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Variant ID Variant Amino Acid
Change
ACMG Call ACMG Call Last
Revised Date
Predicted
ACMG Call
Variant Type Effect Type Times
Observed
PMID Article Count Clinical Phenotype Variant Start Position Genomic Coordinate (GRCh38) Location
1 c.-562-?_118+?del Deletion (Exon 1) Pathogenic 4/28/2021 - CNV Deletion 6-10 21994957, 32253725, 34806794 3 Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities, abnormal bone development, bowed or bent legs, short stature -562 g.22032445_22033124del Exon 1
3 c.-562-?_1645+?del Deletion (Exons 1-15) Pathogenic 4/28/2021 - CNV Deletion < 3 34806794 1 - -562 g.22032445_22190503del 5' UTR
4 c.-562-?_349+?del Deletion (Exons 1-3) Pathogenic 4/28/2021 Likely Pathogenic CNV Deletion 3-5 16636593, 11502829, 19581284, 22577109, 33666701, 34141703, 34806794 7 - -562 g.22032445_22047212del Exon 1 - 3
6 c.-562-?_187+?del Deletion (Exons 1-2) Pathogenic 4/28/2021 - CNV Deletion 6-10 34141703, 34806794 2 Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries -562 g.22032445_22038538del 5' UTR
7 c.-562-?_663+?del Deletion (Exons 1-5) Pathogenic 4/28/2021 - CNV Deletion 3-5 34806794 1 - -562 g.22032445_22077703del 5' UTR
8 c.-430A>G p.? - 4/28/2021 Uncertain Significance SNV Untranslated region < 3 9768674, 34806794 2 - -430 g.22032576A>G 5' UTR
9 c.-92G>A p.? - 4/28/2021 Uncertain Significance SNV Untranslated region < 3 9768674, 34806794 2 - -92 g.22032914G>A 5' UTR
10 c.-33C>T p.? - 4/28/2021 Benign SNV Untranslated region < 3 9768674, 34806794, 19219621 3 - -33 g.22032973C>T 5' UTR
11 c.-14_8delinsTGGGAGCAGCGTGG p.? - 4/28/2021 Pathogenic Small insertion Deletion < 3 22695891, 34806794 2 - -14 g.22032992_22033013delinsTGGGAGCAGCGTGG Exon 1
13 c.-29_118+534del Deletion (Exon 1) - 4/28/2021 Pathogenic Splicing Deletion < 3 34806794 1 - -29 g.22032977_22033657del 5' UTR
14 c.-562-?_1173+?del Deletion (Exons 1-10) Pathogenic 4/28/2021 - CNV Deletion < 3 34806794 1 - -562 g.22032445_22111561del 5' UTR
15 c.-562-?_*3357+?del Deletion (Exons 1-22) Pathogenic 4/28/2021 - CNV Deletion < 3 34806794 1 Bone and/or joint pain and/or joint stiffness, Lower limb deformities -562 g.22032446_22251312del 5' UTR
16 c.1A>G p.Met1? - 4/28/2021 Uncertain Significance SNV Missense < 3 21994957, 30682568, 34806794 3 - 1 g.22033006A>G Exon 1
17 c.2T>C p.Met1? Pathogenic 4/28/2021 - SNV Unknown < 3 34806794 1 - 2 g.22033007T>C Exon 1
18 c.4G>T p.Glu2* - 4/28/2021 Pathogenic SNV Nonsense 3-5 26051471, 34806794 2 Other Musculoskeletal Abnormalities, Short Stature, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries 4 g.22033009G>T Exon 1
19 c.10G>C p.Glu4Gln - 4/28/2021 Uncertain Significance SNV Missense < 3 16636593, 31180159, 34141703, 34806794 4 - 10 g.22033015G>C Exon 1
20 c.15_16del p.Gly6Glufs*44 Pathogenic 4/28/2021 Pathogenic Small deletion Frameshift 3-5 22577109, 34806794 2 Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate 15 g.22033020_22033021del Exon 1
21 c.17_18del p.Gly6Glufs*44 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 16636593, 11502829, 34806794 3 - 17 g.22033022_22033023del Exon 1
22 c.20_21insAG p.Ser7Argfs*24 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 20 g.22033024_22033025dup Exon 1
23 c.24C>T p.Ser8= - 4/28/2021 Likely Benign SNV Synonymous < 3 11502829, 34806794 2 - 24 g.22033029C>T Exon 1
24 c.27_28insA p.Glu10Argfs*41 Pathogenic 4/28/2021 - Small insertion Frameshift < 3 34806794 1 Lower Limb Deformities 27 g.22033032_22033033insA Exon 1
25 c.30_36del p.Thr11Argfs*19 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 30 g.22033035_22033041del Exon 1
26 c.49A>T p.Arg17* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 Gait Abnormalities 49 g.22033054A>T Exon 1
27 c.58C>T p.Arg20* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 11-20 10439971, 9199930, 11502829, 23079138, 20157195, 16055933, 21050253, 15057978, 24857004, 9097956, 16636593, 24926462, 25894638, 18162710, 30599486,10874297, 34141703, 34806794 18 Other Musculoskeletal Abnormalities, Short Stature, Lower limb deformities, Lower Limb Deformities, Gait Abnormalities, Gait abnormalities, Skull Deformities 58 g.22033063C>T Exon 1
28 c.64G>T p.Ala22Ser Uncertain Significance 4/28/2021 Uncertain Significance SNV Missense < 3 23079138, 24926462, 18162710, 30599486, 34806794 5 Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 64 g.22033069G>T Exon 1
29 c.67_74del p.Leu23Valfs*25 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 67 g.22033072_22033079del Exon 1
30 c.68del p.Leu23Argfs*9 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 68 g.22033073del Exon 1
32 c.77_78del p.Phe26Cysfs*24 - 4/28/2021 Pathogenic Small deletion Frameshift 6-10 30607568, 33639975, 21902834, 34806794 4 Other Musculoskeletal Abnormalities 77 g.22033082_22033083del Exon 1
33 c.82G>A p.Gly28Ser - 4/28/2021 Likely Benign SNV Missense 3-5 19513579, 34806794 2 - 82 g.22033087G>A Exon 1
34 c.83del p.Gly28Valfs*4 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 Gait Abnormalities 83 g.22033088del Exon 1
35 c.117del p.Val40* - 4/28/2021 Pathogenic Small deletion Nonsense < 3 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 117 g.22033122del Exon 1 - 2
36 c.118+2del Splice donor Likely Pathogenic 4/28/2021 - Splicing Splice donor < 3 34806794 1 - 118 g.22033125del Intron 1
37 c.118+1G>A p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice donor 3-5 16636593, 25031893, 15057978, 34141703, 34806794 5 Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries 118 g.22033124G>A Intron 1
38 c.118+1G>T Splice donor Pathogenic 4/28/2021 - Splicing Splice donor < 3 34806794 1 - 118 g.22033124G>T Intron 1
39 c.119-?_187+?del Deletion (Exon 2) Likely Pathogenic 4/28/2021 - CNV Deletion < 3 32329911, 34806794 2 - 119 g.22038469_22038537del Exon 2
41 c.119-1G>C Splice acceptor - 4/28/2021 Pathogenic Splicing Splice acceptor < 3 16636593, 7550339, 34806794 3 - 119 g.22038468G>C Intron 1
42 c.119-?_*3357+?dup Gain (Exons 2-22) Uncertain Significance 4/28/2021 - CNV Duplication < 3 34806794 1 - 119 g.22038469_22251310dup Intron 1
43 c.119-1G>A Splice acceptor - 4/28/2021 Pathogenic Splicing Splice acceptor < 3 16636593, 7550339, 34806794 3 - 119 g.22038468G>A Intron 1
44 c.124del p.Gln42Lysfs*4 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 Gait Abnormalities, Lower Limb Deformities 124 g.22038474del Exon 2
45 c.133_134del p.Leu45Lysfs*5 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 23813354, 34806794 2 - 133 g.22038483_22038484del Exon 2
46 c.134T>G p.Leu45* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 Gait Abnormalities, Lower Limb Deformities 134 g.22038484T>G Exon 2
47 c.134T>A p.Leu45* Pathogenic 4/28/2021 - SNV Nonsense 3-5 34806794 1 Lower Limb Deformities 134 g.22038484T>A Exon 2
48 c.142C>T p.Gln48* - 4/28/2021 Pathogenic SNV Nonsense < 3 25839938, 19219621, 34806794 3 Other Musculoskeletal Abnormalities, Lower Limb Deformities 142 g.22038492C>T Exon 2
49 c.148A>T p.Lys50* - 4/28/2021 Pathogenic SNV Nonsense < 3 25839938, 22527485, 34806794 3 Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries 148 g.22038498A>T Exon 2
50 c.151C>T p.Gln51* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 6-10 25839938, 11502829, 31485552, 9097956, 16636593, 34806794 6 Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 151 g.22038501C>T Exon 2
51 c.154G>T p.Glu52* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 3-5 28383812, 34806794 2 Lower Limb Deformities 154 g.22038504G>T Exon 2
52 c.159C>A p.Tyr53* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 - 159 g.22038509C>A Exon 2
53 c.162C>A p.Cys54* - 4/28/2021 Pathogenic SNV Nonsense < 3 30682568, 34806794 2 - 162 g.22038512C>A Exon 2
54 c.166A>T p.Lys56* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 - 166 g.22038516A>T Exon 2
55 c.174del p.Glu58Aspfs*10 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 32329911, 34806794 2 bowed or bent legs 174 g.22038524del Exon 2
56 c.176G>C p.Cys59Ser - 4/28/2021 Likely Pathogenic SNV Missense 3-5 19513579, 34806794 2 Lower Limb Deformities 176 g.22038526G>C Exon 2
57 c.177C>A p.Cys59* Pathogenic 4/28/2021 - SNV Nonsense 3-5 34806794 1 Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries 177 g.22038527C>A Exon 2
58 c.179_436del p.Ile60_Glu145del - 4/28/2021 Likely Pathogenic CNV Deletion < 3 16636593, 34806794 2 - 179 g.22038529_22076474del Exons 2-4
59 c.181G>T p.Glu61* - 4/28/2021 Pathogenic SNV Nonsense < 3 21994957, 34806794 2 - 181 g.22038531G>T Exon 2
60 c.185C>T p.Ala62Val Uncertain Significance 4/28/2021 - Splicing Intronic < 3 34806794 1 Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate 185 g.22038535C>T Exon 2
61 c.187del p.Ala63Leufs*5 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 22577109, 34806794 2 - 187 g.22038538del Exons 2-3
62 c.187+2T>A Splice donor Likely Pathogenic 4/28/2021 - Splicing Splice donor < 3 34806794 1 Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 187 g.22038539T>A Intron 2
63 c.187+1G>T p.? - 4/28/2021 Pathogenic Splicing Splice donor < 3 16636593, 29505567, 10439971, 34806794 4 Lower Limb Deformities 187 g.22038538G>T Intron 2
64 c.188-?_349+?del Deletion (Exon 3) Pathogenic 4/28/2021 Uncertain Significance CNV Deletion 3-5 23079138, 24926462, 21902834, 34806794 4 Fractures/Pseudo-Fractures, Lower Limb Deformities, Gait abnormalities, Lower limb deformities, abnormal bone development, short stature 188 g.22047050_22047211del Exon 3
65 c.188-?_349+?dup Gain (Exon 3) - 4/28/2021 Uncertain Significance CNV Duplication < 3 21902834, 34806794 2 - 188 g.22047050_22047211dup Exon 3
66 c.188-1G>C p.? - 4/28/2021 Pathogenic Splicing Splice acceptor 3-5 11502829, 34806794 2 Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 188 g.22047049G>C Intron 2
67 c.188-1G>A Splice acceptor Pathogenic 4/28/2021 - Splicing Splice acceptor 3-5 34806794 1 Lower limb deformities, Reduced Serum Phosphate 188 g.22047049G>A Intron 2
69 c.188-47C>T p.? - 4/28/2021 Benign Splicing Intronic < 3 19219621, 34806794 2 - 188 g.22047003C>T Intron 2
70 c.188-?_1404+?dup Gain (Exons 3-12) Likely Pathogenic 4/28/2021 - CNV Duplication < 3 34806794 1 - 188 g.22047050_22133624dup Intron 2
71 c.200T>G p.Leu67* - 4/28/2021 Pathogenic SNV Nonsense < 3 16636593, 34806794 2 - 200 g.22047062T>G Exon 3
73 c.201_202dup p.Ser68Lysfs*4 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 - 201 g.22047063_22047064dup Exon 3
74 c.204del p.Ser68Argfs*3 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 204 g.22047066del Exon 3
75 c.204dup p.Lys69* - 4/28/2021 Pathogenic Small insertion Nonsense < 3 30607568, 33639975, 34806794 3 - 204 g.22047066dup Exon 3
76 c.208_212del p.Val70Serfs*7 Pathogenic 4/28/2021 Pathogenic Small deletion Frameshift 6-10 26377240, 16636593, 33639975, 15057978, 9097956, 30607568, 32253725, 34806794 8 Gait Abnormalities, Lower Limb Deformities, abnormal bone development, bowed or bent leg, short stature 208 g.22047070_22047074del Exon 3
77 c.212A>C p.Asn71Thr - 4/28/2021 Likely Pathogenic SNV Missense < 3 21050253, 34806794 2 - 212 g.22047074A>C Exon 3
78 c.212A>T p.Asn71Ile - 4/28/2021 Likely Pathogenic SNV Missense 6-10 30607568, 33639975, 21902834, 34806794 4 Short Stature, Other Musculoskeletal Abnormalities 212 g.22047074A>T Exon 3
79 c.328_330del p.Asn110del - 4/28/2021 Likely Pathogenic CNV Deletion < 3 20157195, 18625346, 34806794 3 - 328 g.22047190_22047192del Exon 3
80 c.218_221del p.Ser73Trpfs*16 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 218 g.22047080_22047083del Exon 3
82 c.221_222del p.Val74Glyfs*4 Pathogenic 4/28/2021 Pathogenic Small deletion Frameshift < 3 22577109, 34806794 2 - 221 g.22047083_22047084del Exon 3
83 c.227_238dup p.Asn79_Phe80insSerCysAspAsn Pathogenic 4/28/2021 - Small duplication Insertion < 3 34806794 1 - 227 g.22047089_22047100dup Exon 3
84 c.229T>A p.Cys77Ser - 4/28/2021 Pathogenic SNV Missense < 3 26051471, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 229 g.22047091T>A Exon 3
85 c.230G>C p.Cys77Ser Pathogenic 4/28/2021 Pathogenic SNV Missense 3-5 16636593, 19219621, 9097956, 10874297, 12001226, 32253725, 34806794 7 Hearing Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, abnormal bone development, pectus carinatum, bowed or bent leg, short stature 230 g.22047092G>C Exon 3
86 c.230G>A p.Cys77Tyr Likely Pathogenic 4/28/2021 Pathogenic SNV Missense 3-5 32329911, 34806794 2 bowed or bent legs 230 g.22047092G>A Exon 3
87 c.230G>T p.Cys77Phe Pathogenic 4/28/2021 - SNV Missense 3-5 34806794 1 Lower Limb Deformities, Gait abnormalities, Fractures/Pseudo-Fractures 230 g.22047092G>T Exon 3
88 c.231T>G p.Cys77Trp - 4/28/2021 Likely Pathogenic SNV Missense < 3 30682568, 34806794 2 - 231 g.22047093T>G Exon 3
89 c.239T>C p.Phe80Ser Pathogenic 4/28/2021 Likely Pathogenic SNV Missense < 3 17710565, 12001226, 34806794 3 - 239 g.22047101T>C Exon 3
91 c.241T>C p.Phe81Leu Uncertain Significance 4/28/2021 - SNV Missense < 3 34806794 1 - 241 g.22047103T>C Exon 3
92 c.242T>C p.Phe81Ser - 4/28/2021 Likely Pathogenic SNV Missense < 3 10439971, 23079138, 16636593, 24926462, 17710565, 34806794 6 Other Musculoskeletal Abnormalities 242 g.22047104T>C Exon 3
93 c.250G>C p.Ala84Pro Uncertain Significance 4/28/2021 - SNV Missense < 3 34806794 1 - 250 g.22047112G>C Exon 3
94 c.251C>A p.Ala84Asp - 4/28/2021 Likely Pathogenic SNV Missense < 3 25042154, 34806794 2 - 251 g.22047113C>A Exon 3
95 c.253T>C p.Cys85Arg - 4/28/2021 Pathogenic SNV Missense < 3 9199930, 11468271, 16636593, 12727977, 14992683, 15470265, 12001226, 19513579, 17710565, 10874297, 25894638, 18046499, 12111239, 34806794 14 - 253 g.22047115T>C Exon 3
96 c.254G>A p.Cys85Tyr Pathogenic 4/28/2021 Likely Pathogenic SNV Missense 6-10 11502829, 30682568, 9106524, 16636593, 10874297, 12001226, 34806794 7 Lower Limb Deformities 254 g.22047116G>A Exon 3
97 c.254G>T p.Cys85Phe - 4/28/2021 Likely Pathogenic SNV Missense < 3 16636593, 19219621, 10874297, 12001226, 34806794 5 Other Musculoskeletal Abnormalities, Lower Limb Deformities 254 g.22047116G>T Exon 3
98 c.254G>C p.Cys85Ser Pathogenic 4/28/2021 Pathogenic SNV Missense 3-5 30682568, 32329911, 34806794 3 bowed or bent legs, Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature 254 g.22047116G>C Exon 3
99 c.263G>A p.Trp88* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 - 263 g.22047125G>A Exon 3
100 c.264del p.Trp88* - 4/28/2021 Pathogenic Small deletion Nonsense 3-5 23813354, 21293852, 18046499, 24857004, 34806794 5 - 264 g.22047126del Exon 3
101 c.275_280delinsT p.Asn92Ilefs*17 Pathogenic 4/28/2021 - Small insertion Frameshift < 3 34806794 1 - 275 g.22047137_22047142delinsT Exon 3
102 c.288A>G p.Glu96= - 4/28/2021 Likely Benign SNV Synonymous < 3 18625346, 34806794 2 - 288 g.22047150A>G Exon 3
103 c.288del p.Asp97Ilefs*11 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 288 g.22047150del Exon 3
104 c.289_349+836delinsAAGATATGCCT Splice Donor Likely Pathogenic 4/28/2021 - Splicing Splice donor < 3 34806794 1 Gait Abnormalities, Lower Limb Deformities 289 g.22047151_22048047delinsAAGATATGCCT Exon 3
105 c.294_295insAAGAG p.Pro99Lysfs*11 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 294 g.22047156_22047157insAAGAG Exon 3
106 c.304G>A p.Gly102Arg Pathogenic 4/28/2021 Likely Pathogenic SNV Missense 11-20 29901142, 34141703, 27840894, 34806794 4 bowed or bent legs, short stature, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, pectus carinatum, abnormal bone development, dental abnormalities 304 g.22047166G>A Exon 3
107 c.307del p.Val103Phefs*5 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 Fractures/Pseudo-Fractures, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 307 g.22047169del Exon 3
108 c.318G>A p.Trp106* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 - 318 g.22047180G>A Exon 3
109 c.327del p.His109Glnfs*7 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 9768674, 16636593, 34806794 3 - 327 g.22047189del Exon 3
111 c.329_330insC p.Val111Cysfs*2 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 9768674, 34806794 2 - 329 g.22047191_22047192insC Exon 3
112 c.332_334del p.Val111del Likely Pathogenic 2022-02-02 00:00:00 - Small deletion Deletion < 3 34806794 1 - 332 g.22047194_22047196del Exon 3
113 c.388G>T p.Glu130* - 4/28/2021 Pathogenic SNV Nonsense < 3 30075510, 34806794 2 - 388 g.22076426G>T Exon 4
114 c.349+1G>C Splice donor Likely Pathogenic 4/28/2021 - Splicing Splice donor < 3 34806794 1 - 349 g.22047212G>C Intron 3
115 c.349+2del Splice donor Pathogenic 4/28/2021 - Splicing Splice donor < 3 34806794 1 - 349 g.22047213del Intron 3
116 c.349+2T>C p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice donor < 3 19219621, 34141703, 34806794 3 Other Musculoskeletal Abnormalities, Lower Limb Deformities 349 g.22047213T>C Intron 3
118 c.350-?_*3357+?del Deletion (Exons 4-22) Pathogenic 4/28/2021 - CNV Deletion < 3 34806794 1 - 350 g.22076388_22251310del Intron 3
119 c.350-?_732+?del Deletion (Exons 4-6) Pathogenic 4/28/2021 - CNV Deletion < 3 34806794 1 - 350 g.22076388_22090497del Intron 3
120 c.350-1G>A p.? - 4/28/2021 Pathogenic Splicing Splice acceptor < 3 22577109, 34806794 2 - 350 g.22076387G>A Intron 3
122 c.350-?_663+?del Deletion (Exons 4-5) Pathogenic 4/28/2021 Likely Pathogenic CNV Deletion 3-5 16636593, 9199930, 34806794 3 - 350 g.22076388_22077702del Exons 4-5
124 c.350-?_1404+?del Deletion (Exons 4-12) Pathogenic 4/28/2021 - CNV Deletion < 3 32253725, 34806794 2 abnormal bone development, bowed or bent leg, short stature 350 g.22076388_22133624del Intron 3
125 c.350-1G>T p.? - 4/28/2021 Pathogenic Splicing Splice acceptor 3-5 22101457, 29460029, 19219621, 34806794 4 Other Musculoskeletal Abnormalities, Lower Limb Deformities 350 g.22076387G>T Intron 3
126 c.350-2A>G p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice acceptor 3-5 26051471, 29460029, 34806794 3 Other Musculoskeletal Abnormalities, Lower Limb Deformities 350 g.22076386A>G Intron 3
127 c.350-?_436+?del Deletion (Exon 4) Pathogenic 4/28/2021 - CNV Deletion < 3 32253725, 34806794 2 Fractures/Pseudo-Fractures, Lower Limb Deformities, abnormal bone development, bowed or bent leg, short stature 350 g.22076388_22076474del Intron 3
128 c.350-?_1899+?del Deletion (Exons 4-18) - 4/28/2021 Uncertain Significance CNV Deletion < 3 22695891, 34806794 2 - 350 g.22076388_22221743del Exons 4-18
129 c.361A>T p.Lys121* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 - 361 g.22076399A>T Exon 4
130 c.395_398dup p.Gln133Hisfs*14 - 4/28/2021 Pathogenic Small duplication Frameshift < 3 24926462, 23079138, 21902834, 34806794 4 nephrocalcinosis 395 g.22076433_22076436dup Exon 4
131 c.397C>T p.Gln133* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 3-5 21050253, 18057152, 34806794 3 Gait Abnormalities, Nervous System, Lower Limb Deformities 397 g.22076435C>T Exon 4
132 c.401_402insGCCAAA p.Lys134_Ala135insProLys - 4/28/2021 Likely Pathogenic Small insertion Insertion < 3 28383812, 34806794 2 Lower Limb Deformities 401 g.22076439_22076440insGCCAAA Exon 4
133 c.404C>A p.Ala135Asp Uncertain Significance 4/28/2021 - SNV Missense < 3 34806794 1 - 404 g.22076442C>A Exon 4
134 c.412del p.Leu138Phefs*6 - 4/28/2021 Pathogenic Small deletion Frameshift 3-5 24229582, 16636593, 15057978, 24857004, 34806794 5 Short Stature, Lower Limb Deformities 412 g.22076450del Exon 4
135 c.413T>C p.Leu138Pro - 4/28/2021 Likely Pathogenic SNV Missense 3-5 10439971, 27884786, 23079138, 9097956, 16636593, 24926462, 19219621, 10874297, 34806794 9 Other Musculoskeletal Abnormalities, Lower Limb Deformities 413 g.22076451T>C Exon 4
136 c.415del p.Tyr139Ilefs*5 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 415 g.22076453del Exon 4
137 c.416A>G p.Tyr139Cys Pathogenic 2022-02-02 00:00:00 - SNV Missense 3-5 34806794 1 Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 416 g.22076454A>G Exon 4
138 c.418T>C p.Ser140Pro - 4/28/2021 Pathogenic SNV Missense < 3 34806794 1 - 418 g.22076456T>C Exon 4
139 c.419C>G p.Ser140* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 - 419 g.22076457C>G Exon 4
140 c.421T>C p.Ser141Pro - 4/28/2021 Likely Pathogenic SNV Missense < 3 16636593, 26894575, 34806794 3 - 421 g.22076459T>C Exon 4
141 c.422C>T p.Ser141Phe - 4/28/2021 Likely Pathogenic SNV Missense 3-5 26894575, 34806794 2 Short Stature, Lower Limb Deformities 422 g.22076460C>T Exon 4
142 c.423del p.Cys142Alafs*2 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 423 g.22076461del Exon 4
143 c.424T>C p.Cys142Arg - 4/28/2021 Likely Pathogenic SNV Missense < 3 25086671, 34806794 2 - 424 g.22076462T>C Exon 4
144 c.425G>T p.Cys142Phe Pathogenic 4/28/2021 - SNV Missense < 3 34806794 1 Gait Abnormalities, Lower Limb Deformities 425 g.22076463G>T Exon 4
145 c.425G>C p.Cys142Ser Uncertain Significance 4/28/2021 Likely Pathogenic SNV Missense 3-5 10439971, 16636593, 32253725, 34806794 4 Other Musculoskeletal Abnormalities, Lower Limb Deformities, abnormal bone development, pectus carinatum, bowed or bent leg 425 g.22076463G>C Exon 4
146 c.426C>A p.Cys142* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 - 426 g.22076464C>A Exon 4
147 c.433G>T p.Glu145* - 4/28/2021 Pathogenic SNV Nonsense < 3 30393837, 34806794 2 - 433 g.22076471G>T Exon 4
148 c.436+6T>C p.? - 4/28/2021 Pathogenic Splicing Intronic 6-10 18252791, 31102713, 24857004, 34806794 4 Muscle Pain and/or Weakness and/or Fatigue, Bone and/or Joint Pain and/or Joint Stiffness, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Bone Density Abnormalities, Thyroid 436 g.22076480T>C Intron 4
149 c.436+1G>A p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice donor < 3 24857004, 29505567, 34806794 3 Short Stature, Lower Limb Deformities, Gait Abnormalities, Skull Deformities 436 g.22076475G>A Intron 4
150 c.436+4A>C p.? - 4/28/2021 Pathogenic Splicing Intronic 3-5 31102713, 19219621, 24857004, 34806794 4 Other Musculoskeletal Abnormalities, Lower Limb Deformities 436 g.22076478A>C Intron 4
151 c.436+1G>T p.? - 4/28/2021 Pathogenic Splicing Splice donor 3-5 29460029, 29505567, 34806794 3 Short Stature, Lower Limb Deformities 436 g.22076475G>T Intron 4
152 c.436+5G>T p.? - 4/28/2021 Likely Pathogenic Splicing Intronic < 3 15057978, 34806794 2 - 436 g.22076479G>T Intron 4
153 c.436+1G>C p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice donor 3-5 18625346, 29505567, 34141703, 27840894, 34806794 5 stunted growth, genu varum 436 g.22076475G>C Intron 4
154 c.436+4A>G Intronic Pathogenic 4/28/2021 - Splicing Intronic 3-5 34806794 1 - 436 g.22076478A>G Intron 4
155 c.436+3G>C p.? Likely Pathogenic 4/28/2021 Pathogenic Splicing Intronic 3-5 31102713, 21902834, 24857004, 34806794 4 Short Stature, Other Musculoskeletal Abnormalities 436 g.22076477G>C Intron 4
156 c.436+2T>A p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice donor 3-5 10439971, 31102713, 16636593, 34806794 4 Lower Limb Deformities, Gait Abnormalities, Gait abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities, Tooth abscesses and/or excessive dental caries 436 g.22076476T>A Intron 4
157 c.436+5G>A Intronic Uncertain Significance 4/28/2021 - Splicing Intronic < 3 34806794 1 - 436 g.22076479G>A Intron 4
159 c.437-2A>G Splice acceptor Pathogenic 4/28/2021 - Splicing Splice acceptor 3-5 34806794 1 Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 437 g.22077474A>G Intron 4
160 c.437-3C>G p.? Uncertain Significance 4/28/2021 Pathogenic Splicing Intronic 3-5 31102713, 19219621, 24857004, 34806794 4 Other Musculoskeletal Abnormalities, Lower Limb Deformities 437 g.22077473C>G Intron 4
161 c.437-2A>C Splice acceptor Likely Pathogenic 4/28/2021 - Splicing Splice acceptor < 3 34806794 1 - 437 g.22077474A>C Intron 4
162 c.437-?_1404+?del Deletion (Exons 5-12) Pathogenic 4/28/2021 - CNV Deletion < 3 34806794 1 - 437 g.22077476_22133624del Intron 4
163 c.455dup p.Asp152Glufs*20 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 - 455 g.22077494dup Exon 5
164 c.457dup p.Ala153Glyfs*19 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 - 457 g.22077496dup Exon 5
165 c.463C>G p.Pro155Ala - 4/28/2021 Uncertain Significance SNV Missense < 3 22996961, 34806794 2 - 463 g.22077502C>G Exon 5
166 c.465_466dup p.Leu156Hisfs*66 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 24926462, 30599486, 23079138, 22261628, 18162710, 34806794 6 Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities 465 g.22077504_22077505dup Exon 5
167 c.479T>G p.Leu160Arg - 4/28/2021 Likely Pathogenic SNV Missense < 3 16636593, 11004247, 34806794 3 - 479 g.22077518T>G Exon 5
168 c.482G>C p.Arg161Pro Likely Pathogenic 2022-02-02 00:00:00 Uncertain Significance SNV Missense 3-5 21050253, 34806794 2 Lower Limb Deformities 482 g.22077521G>C Exon 5
169 c.485A>G p.His162Arg - 4/28/2021 Pathogenic SNV Missense < 3 9768674, 34806794 2 - 485 g.22077524A>G Exon 5
170 c.489A>G p.Ser163= - 4/28/2021 Likely Pathogenic SNV Synonymous < 3 9768674, 34806794 2 - 489 g.22077528A>G Exon 5
171 c.496C>T p.Arg166Cys - 4/28/2021 Likely Pathogenic SNV Missense < 3 10439971, 11502829, 23079138, 16636593, 24926462, 34806794 6 Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities 496 g.22077535C>T Exon 5
172 c.497del p.Arg166Profs*55 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 30075510, 34806794 2 Other Musculoskeletal Abnormalities, Bone and/or Joint Pain and/or Joint Stiffness, Fractures/Pseudo-Fractures, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Bone Density Abnormalities 497 g.22077536del Exon 5
173 c.499T>C p.Trp167Arg Likely Pathogenic 4/28/2021 Likely Pathogenic SNV Missense 6-10 33639975, 34806794 2 radiological signs of rickets, abnormal bone development, short stature, Lower Limb Deformities 499 g.22077538T>C Exon 5
174 c.503C>T p.Pro168Leu Pathogenic 2022-02-02 00:00:00 Likely Pathogenic SNV Missense 6-10 16261449, 29460029, 34806794 3 Gait Abnormalities, Lower Limb Deformities 503 g.22077542C>T Exon 5
175 c.505G>A p.Val169Met - 4/28/2021 Likely Benign SNV Missense 6-10 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 505 g.22077544G>A Exon 5
176 c.508_529del p.Leu170Lysfs*44 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 508 g.22077547_22077568del Exon 5
177 c.537T>A p.Val179= - 4/28/2021 Likely Benign SNV Synonymous < 3 9768674, 34806794 2 - 537 g.22077576T>A Exon 5
178 c.538del p.Trp180Glyfs*41 Pathogenic 4/28/2021 Pathogenic Small deletion Frameshift 6-10 19201216, 27884786, 19219621, 34806794 4 - 538 g.22077577del Exon 5
179 c.540G>A p.Trp180* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries 540 g.22077579G>A Exon 5
180 c.542C>G p.Ser181* - 4/28/2021 Pathogenic SNV Nonsense < 3 29460029, 34806794 2 - 542 g.22077581C>G Exon 5
181 c.547_548del p.Arg183Lysfs*28 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 23813354, 34806794 2 - 547 g.22077587_22077588del Exon 5
182 c.551dup p.Phe185Valfs*27 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 Gait Abnormalities, Lower Limb Deformities 551 g.22077590dup Exon 5
183 c.567_576del p.Thr190Argfs*28 - 4/28/2021 Pathogenic Small deletion Frameshift 3-5 22577109, 34806794 2 - 567 g.22077606_22077615del Exon 5
184 c.565C>T p.Gln189* - 4/28/2021 Pathogenic SNV Nonsense 3-5 16261449, 23079138, 12414858, 24926462, 21902834, 16636593, 33796255, 34806794 8 Short Stature, Other Musculoskeletal Abnormalities, pain 565 g.22077604C>T Exon 5
185 c.574dup p.Ala192Glyfs*20 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 - 574 g.22077613dup Exon 5
186 c.589C>T p.Gln197* - 4/28/2021 Pathogenic SNV Nonsense < 3 30599486, 34806794 2 Short Stature, Bone Density Abnormalities, Lower Limb Deformities 589 g.22077628C>T Exon 5
187 c.591A>G p.Gln197= Pathogenic 4/28/2021 Pathogenic SNV Synonymous 11-20 21902834, 29393334, 34806794 3 Other Musculoskeletal Abnormalities, Reduced_TmP/GFR_(<LLN), Short Stature, Lower limb deformities, Lower Limb Deformities, Fractures/Pseudo-Fractures, Gait Abnormalities, Reduced Serum Phosphate, Tooth Abscesses and/or Excessive Dental Caries, Gait abnormalities, Bone Density Abnormalities 591 g.22077630A>G Exon 5
188 c.593dup p.Tyr198* Pathogenic 4/28/2021 - Small duplication Nonsense < 3 34806794 1 - 593 g.22077632dup Exon 5
189 c.594C>G p.Tyr198* - 4/28/2021 Pathogenic SNV Nonsense < 3 16636593, 11004247, 34806794 3 - 594 g.22077633C>G Exon 5
190 c.610_663+50del p.? - 4/28/2021 Pathogenic Small deletion Deletion < 3 16636593, 9199930, 9097956, 34806794 4 - 610 g.22077649_22077752del Exon 5, intron 5
191 c.617T>G p.Leu206Trp - 4/28/2021 Likely Pathogenic SNV Missense 3-5 16636593, 21293852, 23813354, 24857004, 34806794 5 Short Stature, Lower Limb Deformities 617 g.22077656T>G Exon 5
192 c.617T>A p.Leu206* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 - 617 g.22077656T>A Exon 5
193 c.621T>A p.Tyr207* - 4/28/2021 Pathogenic SNV Nonsense < 3 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 621 g.22077660T>A Exon 5
194 c.630del p.Asp211Metfs*10 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 29460029, 34806794 2 - 630 g.22077669del Exon 5
195 c.649G>T p.Glu217* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 3-5 9768674, 16636593, 34806794 3 Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries 649 g.22077688G>T Exon 5
196 c.655_656del p.Ile219Leufs*18 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 26051471, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 655 g.22077694_22077695del Exon 5
197 c.663_1176del p.Leu222Serfs*15 - 4/28/2021 Pathogenic CNV Frameshift < 3 21050253, 34806794 2 - 663 g.22077702_22114460del Exon 6
198 c.663_663+12del Intronic - 4/28/2021 Pathogenic Small deletion Splice donor < 3 25153221, 34806794 2 Other Musculoskeletal Abnormalities, Short Stature, Lower Limb Deformities, Skull Deformities 663 g.22077702_22077714del Exon 5, Intron 5
199 c.663G>A p.Lys221= Likely Pathogenic 4/28/2021 - Splicing splice donor 3-5 34806794 1 Reduced Serum Phosphate, Gait Abnormalities, Lower Limb Deformities, Lower limb deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries 663 g.22077702G>A Exon 5
200 c.663+1G>A p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice donor 3-5 30599486, 25031893, 34806794 3 Short Stature, Lower Limb Deformities, Gait Abnormalities, Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries 663 g.22077703G>A Intron 5
201 c.663+2del p.? - 4/28/2021 Pathogenic Small deletion Splice donor 3-5 23813354, 21293852, 24857004, 34806794 4 - 663 g.22077704del Intron 5
202 c.663+2T>A Splice donor Pathogenic 4/28/2021 - Splicing Splice donor < 3 34806794 1 Gait Abnormalities, Lower Limb Deformities 663 g.22077704T>A Intron 5
203 c.663+2T>C Splice donor Pathogenic 4/28/2021 - Splicing Splice donor 3-5 34806794 1 Lower Limb Deformities, Gait abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities 663 g.22077704T>C Intron 5
204 c.664-2A>C Splice acceptor Likely Pathogenic 4/28/2021 - Splicing Splice acceptor < 3 34806794 1 - 664 g.22090427A>C Intron 5
205 c.664-?_732+?del Deletion (Exon 6) Pathogenic 4/28/2021 Uncertain Significance CNV Deletion < 3 9768674, 9199930, 16636593, 34806794 4 - 664 g.22090429_22090497del Exon 6
206 c.664-?_933+?del Deletion (Exons 6-8) Pathogenic 4/28/2021 - CNV Deletion < 3 34806794 1 - 664 g.22090429_22097038del Intron 5
207 c.664-?_1079+?del Deletion (Exons 6-9) Pathogenic 4/28/2021 - CNV Deletion < 3 34806794 1 - 664 g.22090429_22099151del Intron 5
208 c.665T>C p.Leu222Pro - 4/28/2021 Likely Pathogenic SNV Missense < 3 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 665 g.22090430T>C Exon 6
209 c.670C>T p.Gln224* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 6-10 23079138, 32133333, 21293852, 24857004, 16636593, 24926462, 24857004, 33783172, 34806794 9 bowed or bent legs, short stature, gait disturbance, abnormal bone development 670 g.22090435C>T Exon 6
210 c.674del p.Ala225Glufs*7 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 21050253, 34806794 2 - 674 g.22090439del Exon 6
211 c.677del p.Thr226Asnfs*6 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 16636593, 15057978, 34806794 3 - 677 g.22090442del Exon 6
213 c.682dup p.Ser228Phefs*10 - 4/28/2021 Pathogenic Small duplication Frameshift < 3 21902834, 34806794 2 Short Stature, Other Musculoskeletal Abnormalities 682 g.22090447dup Exon 6
214 c.682_683del p.Ser228Profs*9 Pathogenic 4/28/2021 Pathogenic Small deletion Frameshift 3-5 16636593, 9199930, 33639975, 21553362, 34806794 5 hearing loss, renal calcification, hypothyroidism 682 g.22090447_22090448del Exon 6
215 c.690C>T p.Ala230= - 4/28/2021 Uncertain Significance SNV Synonymous < 3 11502829, 34806794 2 Lower Limb Deformities 690 g.22090455C>T Exon 6
216 c.710A>G p.Asp237Gly - 4/28/2021 Likely Pathogenic SNV Missense < 3 10439971, 23079138, 16636593, 24926462, 12727977, 34806794 6 - 710 g.22090475A>G Exon 6
217 c.724del p.Ala242Profs*19 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 724 g.22090489del Exon 6
218 c.732+1_732+2del p.? - 4/28/2021 Pathogenic Small deletion Splice donor 3-5 27884786, 19219621, 32253725, 34806794 4 Other Musculoskeletal Abnormalities, bowed or bent legs, Lower Limb Deformities, dental abscesses, abnormal bone development, short stature 732 g.22090498_22090499del Intron 6
219 c.732+1G>C p.? - 4/28/2021 Pathogenic Splicing Splice donor < 3 32329911, 29460029, 34806794 3 bowed or bent legs, dental caries 732 g.22090498G>C Intron 6
220 c.732+4_732+5insCA Intronic Uncertain Significance 4/28/2021 - Splicing Intronic < 3 34806794 1 - 732 g.22090501_22090502insCA Intron 6
221 c.732+1G>T p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice donor 3-5 9097956, 24857004, 34806794 3 - 732 g.22090498G>T Intron 6
222 c.733-?_849+?del Deletion (Exon 7) Likely Pathogenic 4/28/2021 - CNV Deletion < 3 34806794 1 Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 733 g.22093983_22094099del Intron 6
223 c.733-2A>C Splice acceptor Likely Pathogenic 4/28/2021 - Splicing Splice acceptor < 3 34806794 1 - 733 g.22093981A>C Intron 6
224 c.733-1G>A p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice acceptor 6-10 9097956, 34806794 2 Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate 733 g.22093982G>A Intron 6
225 c.733-1G>T p.? - 4/28/2021 Pathogenic Splicing Splice acceptor < 3 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 733 g.22093982G>T Intron 6
226 c.733-1G>C p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice acceptor < 3 9097956, 34806794 2 - 733 g.22093982G>C Intron 6
227 c.735T>G p.Tyr245* - 4/28/2021 Pathogenic SNV Nonsense < 3 21553362, 34806794 2 genu varum, bowed or bent leg, nephrocalcinosis, renal dysfunction, hypertension 735 g.22093985T>G Exon 7
228 c.750del p.Tyr250* Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 Lower Limb Deformities 750 g.22094000del Exon 7
229 c.750C>A p.Tyr250* Pathogenic 4/28/2021 Pathogenic SNV Nonsense < 3 9768674, 16636593, 34806794 3 - 750 g.22094000C>A Exon 7
230 c.750C>G p.Tyr250* Pathogenic 4/28/2021 Pathogenic SNV Nonsense < 3 21902834, 34806794 2 Short Stature, Other Musculoskeletal Abnormalities 750 g.22094000C>G Exon 7
231 c.751A>T p.Lys251* - 4/28/2021 Pathogenic SNV Nonsense < 3 16261449, 34806794 2 - 751 g.22094001A>T Exon 7
232 c.759G>A p.Met253Ile Pathogenic 4/28/2021 Likely Pathogenic SNV Missense < 3 16636593, 9106524, 34806794 3 - 759 g.22094009G>A Exon 7
233 c.755T>C p.Phe252Ser - 4/28/2021 Likely Pathogenic SNV Missense < 3 9106524, 16636593, 11502829, 34806794 4 - 755 g.22094005T>C Exon 7
236 c.763_784dup p.Ala262Glyfs*9 - 4/28/2021 Pathogenic Small duplication Frameshift < 3 34806794 1 - 763 g.22094013_22094034dup Exon 7
237 c.766A>C p.Thr256Pro Uncertain Significance 4/28/2021 - SNV Missense < 3 34806794 1 - 766 g.22094016A>C Exon 7
238 c.766_767dup p.Ala257Leufs*5 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 766 g.22094016_22094017dup Exon 7
240 c.779T>G p.Leu260* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 - 779 g.22094029T>G Exon 7
241 c.784G>C p.Ala262Pro - 4/28/2021 Likely Pathogenic SNV Missense < 3 24926462, 23079138, 21902834, 34806794 4 Other Musculoskeletal Abnormalities 784 g.22094034G>C Exon 7
242 c.800C>A p.Ala267Glu - 4/28/2021 Pathogenic SNV Missense < 3 34806794 1 - 800 g.22094050C>A Exon 7
243 c.814A>T p.Lys272* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 - 814 g.22094064A>T Exon 7
244 c.819_845del p.Val274_Ala282del Uncertain Significance 4/28/2021 - Small deletion Deletion < 3 34806794 1 - 819 g.22094069_22094095del Exon 7
245 c.824T>C p.Leu275Pro Likely Pathogenic 4/28/2021 Likely Pathogenic SNV Missense 3-5 34141703, 27840894, 34806794 3 Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities, stunted growth, genu varum, teeth falling out 824 g.22094074T>C Exon 7
246 c.830T>A p.Leu277* - 4/28/2021 Pathogenic SNV Nonsense < 3 11502829, 23079138, 9106524, 16636593, 24926462, 34806794 6 Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 830 g.22094080T>A Exon 7
247 c.832G>A p.Glu278Lys - 4/28/2021 Likely Pathogenic SNV Missense 3-5 29610183, 34806794 2 Skull Deformities, Lower Limb Deformities 832 g.22094082G>A Exon 7
248 c.832G>T p.Glu278* - 4/28/2021 Pathogenic SNV Nonsense < 3 10439971, 23079138, 16636593, 24926462, 34806794 5 Other Musculoskeletal Abnormalities 832 g.22094082G>T Exon 7
249 c.840_849+1del - Pathogenic 4/28/2021 - Splicing Splice donor < 3 34806794 1 - 840 g.22094090_22094100del Exon 7
250 c.842T>A p.Ile281Lys - 4/28/2021 Pathogenic SNV Missense < 3 26377240, 32329911, 34806794 3 bowed or bent legs 842 g.22094092T>A Exon 7
251 c.845C>A p.Ala282Asp Uncertain Significance 4/28/2021 - SNV Missense < 3 34806794 1 - 845 g.22094095C>A Exon 7
252 c.847_849+2del - Pathogenic 4/28/2021 - Splicing Splice donor < 3 34806794 1 - 847 g.22094097_22094101del Exon 7
253 c.849+1268G>T p.? Uncertain Significance 4/28/2021 Likely Pathogenic Splicing Intronic 3-5 11502821, 34806794 2 Short Stature, Other Musculoskeletal Abnormalities, Lower Limb Deformities 849 g.22095367G>T Intron 7
254 c.849+1G>T p.? - 4/28/2021 Pathogenic Splicing Splice donor 3-5 9097956, 21050253, 16636593, 19219621, 34806794 5 Other Musculoskeletal Abnormalities, Lower Limb Deformities 849 g.22094100G>T Intron 7
255 c.849+6_849+7insT p.? - 4/28/2021 Uncertain Significance Small insertion Intronic < 3 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 849 g.22094105dup Intron 7
256 c.849+1G>A p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice donor 3-5 16636593, 12414858, 24857004, 20578943, 34806794 5 - 849 g.22094100G>A Intron 7
257 c.850-2A>G Splice acceptor Pathogenic 4/28/2021 - Splicing Splice acceptor 3-5 34806794 1 - 850 g.22096953A>G Intron 7
258 c.850-?_933+?del Deletion (Exon 8) Likely Pathogenic 4/28/2021 - CNV Deletion < 3 34806794 1 Gait Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities 850 g.22096955_22097038del Intron 7
259 c.850del p.Ile284* Pathogenic 4/28/2021 Pathogenic Small deletion Nonsense 3-5 22101457, 29460029, 34806794 3 - 850 g.22096955del Exon 8
260 c.850-3C>G p.? - 4/28/2021 Pathogenic Splicing Intronic < 3 31102713, 16636593, 34806794 3 - 850 g.22096952C>G Intron 7
261 c.850-15_853delinsTCTCTTGG - Pathogenic 4/28/2021 - Splicing Splice acceptor < 3 34806794 1 - 850 g.22096940_22096958delinsTCTCTTGG Intron 7
262 c.850-?_1079+?del Deletion (Exons 8-9) Pathogenic 4/28/2021 - CNV Deletion 3-5 34806794 1 - 850 g.22096955_22099151del Intron 7
263 c.871C>T p.Arg291* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 30+ 10439971, 9199930, 33358363, 30607568, 23466123, 29460029, 9768674, 32133333, 33639975, 32329911, 11502829, 26040324, 28506344, 11004247, 19219621, 33295632, 29707405, 16636593, 33537138, 22161748, 10874297, 34141703, 27840894, 34806794 24 Other Musculoskeletal Abnormalities, Short Stature, Cardio Vascular Disease, Lower Limb Deformities, Gait Abnormalities, Fractures/Pseudo-Fractures, Reduced Serum Phosphate, Tooth Abscesses and/or Excessive Dental Caries, Skull Deformities, Vision, genu varum, teeth falling out 871 g.22096976C>T Exon 8
264 c.883del p.Ala295Profs*6 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 883 g.22096988del Exon 8
265 c.888_890delinsC p.Tyr297* - 4/28/2021 Pathogenic Small insertion Nonsense < 3 30607568, 34806794 2 - 888 g.22096993_22096995delinsC Exon 8
266 c.933+1G>T p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice donor < 3 9199930, 34806794 2 Bone and/or joint pain and/or joint stiffness, Lower limb deformities 933 g.22097039G>T Intron 8
267 c.888delinsAT p.Met296Ilefs*9 Pathogenic 4/28/2021 - Small insertion Frameshift < 3 34806794 1 Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 888 g.22096993delinsAT Exon 8
268 c.891C>G p.Tyr297* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 Gait Abnormalities, Lower Limb Deformities 891 g.22096996C>G Exon 8
269 c.897_898del p.Lys299Asnfs*5 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 33639975, 21902834, 34806794 3 Other Musculoskeletal Abnormalities, radiological signs of rickets, abnormal dental development, Short Stature, short stature 897 g.22097002_22097003del Exon 8
270 c.898del p.Met300* Pathogenic 4/28/2021 - Small deletion Frameshift 3-5 34806794 1 Gait Abnormalities, Lower limb deformities, Lower Limb Deformities 898 g.22097003del Exon 8
271 c.904A>G p.Ile302Val - 4/28/2021 Pathogenic SNV Missense < 3 34806794 1 - 904 g.22097009A>G Exon 8
272 c.907T>A p.Ser303Thr - 4/28/2021 Uncertain Significance SNV Missense < 3 30607568, 34806794 2 - 907 g.22097012T>A Exon 8
273 c.914T>C p.Leu305Pro - 4/28/2021 Likely Pathogenic SNV Missense < 3 18775977, 34806794 2 Cardio Vascular Disease, Lower Limb Deformities, Kidney Disease, Thyroid 914 g.22097019T>C Exon 8
274 c.924_927dup p.Pro310Aspfs*15 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries 924 g.22097029_22097032dup Exon 8
275 c.931C>T p.Gln311* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 6-10 9097956, 16636593, 28506344, 19219621, 22161748, 34141703, 27840894, 34806794 8 Other Musculoskeletal Abnormalities, Lower Limb Deformities, Bone and/or joint pain and/or joint stiffness, Short Stature, stunted growth, genu varum 931 g.22097036C>T Exon 8
276 c.933+1G>A p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice donor < 3 30682568, 34806794 2 Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Fractures/pseudo-fractures, Lower limb deformities, Short Stature 933 g.22097039G>A Intron 8
277 c.934-2A>G Splice acceptor Pathogenic 4/28/2021 Pathogenic Splicing Splice acceptor < 3 9768674, 16636593, 34806794 3 - 934 g.22099004A>G Intron 8
278 c.934-16_934-12delinsCTACCTAACTGAGAT Intronic Uncertain Significance 4/28/2021 - Splicing Intronic < 3 34806794 1 Gait Abnormalities, Lower Limb Deformities 934 g.22098990_22098994delinsCTACCTAACTGAGAT Intron 8
279 c.933+2T>A Splice donor - 4/28/2021 Pathogenic Splicing Frameshift < 3 34806794 1 - 933 g.22097040T>A Intron 8
280 c.934-?_*3357+?del Deletion (Exons 9-22) Pathogenic 4/28/2021 - CNV Deletion < 3 34806794 1 - 934 g.22099006_22251310del Intron 8
281 c.934-?_1079+?del Deletion (Exon 9) - 4/28/2021 Pathogenic CNV Deletion < 3 9199930, 34806794 2 - 934 g.22099006_22099151del Intron 8
282 c.934-1G>T p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice acceptor < 3 24926462, 30599486, 34806794 3 Short Stature, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries 934 g.22099005G>T Intron 8
283 c.934-1_937dup p.Asp313Glyfs*20 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 16636593, 34806794 2 - 937 g.22099005_22099009dup Intron 8, exon 9
284 c.941G>A p.Trp314* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 - 941 g.22099013G>A Exon 9
286 c.942G>A p.Trp314* Pathogenic 4/28/2021 Pathogenic SNV Nonsense < 3 16636593, 34806794 2 Lower Limb Deformities, Gait abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities 942 g.22099014G>A Exon 9
287 c.? p.Trp314* - 4/28/2021 Pathogenic SNV Nonsense 3-5 11502829, 34806794 2 Lower Limb Deformities 942 g.22099014 Exon 9
288 c.947G>T p.Gly316Val - 4/28/2021 Uncertain Significance SNV Missense < 3 25861491, 34806794 2 Short Stature, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Bone Density Abnormalities 947 g.22099019G>T Exon 9
289 c.950A>T p.Tyr317Phe - 4/28/2021 Likely Pathogenic SNV Missense 3-5 9768674, 16636593, 12727977, 22161748, 25861491, 21604088, 22713460, 10439971, 34806794 9 Lower Limb Deformities 950 g.22099022A>T Exon 9
290 c.956dup p.Lys320Glufs*4 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 - 956 g.22099028dup Exon 9
291 c.958_960del p.Lys320del Uncertain Significance 4/28/2021 Pathogenic Small deletion Deletion 3-5 26377240, 22695891, 34806794 3 Gait Abnormalities, Lower Limb Deformities 958 g.22099030_22099032del Exon 9
292 c.961_962insAGTTACTG p.Val321Glufs*13 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 16636593, 9097956, 34806794 3 - 961 g.22099033_22099034insAGTTACTG Exon 9
293 c.962ins8 Frameshift - 4/28/2021 Pathogenic Small insertion Frameshift < 3 9768674, 34806794 2 - 962 g.22099034del Exon 9
295 c.978_979dup p.Tyr327Serfs*5 Pathogenic 4/28/2021 Pathogenic Small duplication Frameshift < 3 19219621, 34806794 2 - 978 g.22099050_22099051dup Exon 9
296 c.979_983dup p.His329Thrfs*4 - 4/28/2021 Pathogenic Small duplication Frameshift < 3 29505567, 34806794 2 Short Stature, Lower Limb Deformities 979 g.22099051_22099055dup Exon 9
299 c.981C>G p.Tyr327* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 Tooth Abscesses and/or Excessive Dental Caries 981 g.22099053C>G Exon 9
300 c.985dup p.His329Profs*20 Pathogenic 4/28/2021 Pathogenic Small insertion Frameshift < 3 9768674, 16636593, 9768675, 9097956, 34806794 5 - 985 g.22099057dup Exon 9
301 c.994del p.Asp332Thrfs*23 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 994 g.22099066del Exon 9
302 c.1005del p.Ser336Profs*19 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 22577109, 34806794 2 - 1005 g.22099077del Exon 9
303 c.1002_1003insG p.Pro335Alafs*14 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 1002 g.22099074_22099075insG Exon 9
304 c.1008dup p.Glu337Argfs*12 - 4/28/2021 Pathogenic Small insertion Missense < 3 21994957, 34806794 2 - 1008 g.22099080dup Exon 9
305 c.1009G>T p.Glu337* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 - 1009 g.22099081G>T Exon 9
306 c.1013_1018del p.Asn338_Val340delinsMet - 4/28/2021 Likely Pathogenic Small deletion Deletion/Insertion < 3 16636593, 15057978, 34806794 3 - 1013 g.22099085_22099090del Exon 9
307 c.1020_1022del p.Val341del Uncertain Significance 4/28/2021 Likely Pathogenic Small deletion Deletion < 3 16636593, 34806794 2 Reduced_TmP/GFR_(<LLN), Tooth abscesses and/or excessive dental caries, Reduced Serum Phosphate 1020 g.22099092_22099094del Exon 9
308 c.1021del p.Val341Serfs*14 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 1021 g.22099093del Exon 9
309 c.1022dup p.Arg342Profs*7 - 4/28/2021 Pathogenic Small duplication Frameshift < 3 34806794 1 - 1022 g.22099094dup Exon 9
310 c.1033C>T p.Gln345* - 4/28/2021 Pathogenic SNV Nonsense < 3 22101457, 29460029, 34806794 3 - 1033 g.22099105C>T Exon 9
311 c.1034del p.Gln345Argfs*10 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 22577109, 34806794 2 - 1034 g.22099106del Exon 9
312 c.1036T>G p.Tyr346Asp - 4/28/2021 Likely Pathogenic SNV Missense < 3 19219621, 22161748, 34806794 3 Other Musculoskeletal Abnormalities, Lower Limb Deformities 1036 g.22099108T>G Exon 9
313 c.1037A>G p.Tyr346Cys Uncertain Significance 4/28/2021 - SNV Missense < 3 34806794 1 - 1037 g.22099109A>G Exon 9
314 c.1042A>T p.Lys348* - 4/28/2021 Pathogenic SNV Nonsense < 3 16636593, 9097956, 19219621, 22161748, 34806794 5 Other Musculoskeletal Abnormalities, Lower Limb Deformities 1042 g.22099114A>T Exon 9
315 c.1044del p.Asp349Ilefs*6 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 21050253, 32619592, 34806794 3 - 1044 g.22099116del Exon 9
316 c.1046dup p.Asp349Glufs*4 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 - 1046 g.22099118dup Exon 9
318 c.1076del p.Lys359Argfs*34 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 16636593, 9097956, 34806794 3 - 1076 g.22099148del Exon 9
319 c.1079+2T>G p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice donor < 3 10439971, 23079138, 16636593, 24926462, 34806794 5 Fractures/Pseudo-Fractures, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 1079 g.22099153T>G Intron 9
320 c.1079+2_1079+5del p.? - 4/28/2021 Pathogenic Small deletion Splice donor 3-5 15057978, 19219621, 34141703, 34806794 4 - 1079 g.22099153_22099156del Intron 9
321 c.1079+1G>A p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice donor 6-10 32329911, 32133333, 15057978, 21050253, 16636593, 33639975, 34806794 7 Lower Limb Deformities, Gait Abnormalities, Gait abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities 1079 g.22099152G>A Intron 9
322 c.1079+1G>T p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice donor 3-5 33639975, 30607568, 34806794 3 radiological signs of rickets, short stature, abnormal bone development 1079 g.22099152G>T Intron 9
325 c.1080-?_1302+?del Deletion (Exons 10-11) Pathogenic 4/28/2021 - CNV Deletion 6-10 16636593, 32253725, 34806794 3 Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, abnormal bone development, pectus carinatum, bowed or bent leg, short stature 1080 g.22111468_22114587del Intron 9
326 c.1080-3C>A p.? - 4/28/2021 Pathogenic Splicing Intronic 3-5 31102713, 26107949, 34806794 3 Tooth Abscesses and/or Excessive Dental Caries, Short Stature, Lower Limb Deformities 1080 g.22111464C>A Intron 9
327 c.1080-?_1173+?del Deletion (Exon 10) Pathogenic 4/28/2021 - CNV Deletion < 3 34806794 1 - 1080 g.22111468_22111561del Intron 9
328 c.1080-1G>A Splice acceptor Pathogenic 4/28/2021 - Splicing Splice acceptor < 3 34806794 1 - 1080 g.22111466G>A Intron 9
329 c.1080-2A>C p.? - 4/28/2021 Pathogenic Splicing Splice acceptor 6-10 26904698, 31102713, 34806794 3 Other Musculoskeletal Abnormalities, Lower Limb Deformities 1080 g.22111465A>C Intron 9
330 c.1080-2A>G p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice acceptor 6-10 26051471, 9097956, 34806794 3 Other Musculoskeletal Abnormalities, Cardio Vascular Disease, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Skull Deformities, Nervous System 1080 g.22111465A>G Intron 9
331 c.1088C>T p.Ala363Val - 4/28/2021 Likely Pathogenic SNV Missense 3-5 19513579, 34806794 2 Lower Limb Deformities 1088 g.22111475C>T Exon 10
332 c.1092C>A p.Asn364Lys - 4/28/2021 Likely Pathogenic SNV Missense < 3 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 1092 g.22111479C>A Exon 10
333 c.1103G>A p.Trp368* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 6-10 31903094, 15057978, 16636593, 22695891, 34806794 5 Reduced Serum Phosphate 1103 g.22111490G>A Exon 10
334 c.1104G>A p.Trp368* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 - 1104 g.22111491G>A Exon 10
335 c.1105A>T p.Arg369* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 3-5 24926462, 23079138, 21902834, 34806794 4 Other Musculoskeletal Abnormalities, Short Stature, Fractures/Pseudo-Fractures, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities, Fractures/pseudo-fractures 1105 g.22111492A>T Exon 10
336 c.1106_1108dup p.Arg369dup Pathogenic 4/28/2021 - Small duplication Insertion < 3 34806794 1 - 1106 g.22111493_22111495dup Exon 10
337 c.1109T>G p.Met370Arg Likely Pathogenic 2022-02-02 00:00:00 Likely Pathogenic SNV Missense 6-10 18625346, 34806794 2 Gait Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities 1109 g.22111496T>G Exon 10
338 c.1110_1111insAAG p.Met370_Val371insLys - 4/28/2021 Likely Pathogenic Small insertion Insertion < 3 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 1110 g.22111497_22111498insAAG Exon 10
339 c.1116T>A p.Tyr372* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 - 1116 g.22111503T>A Exon 10
340 c.1118C>T p.Ser373Phe - 4/28/2021 Likely Pathogenic SNV Missense < 3 21050253, 34806794 2 - 1118 g.22111505C>T Exon 10
341 c.1133T>C p.Leu378Pro Uncertain Significance 4/28/2021 Likely Pathogenic SNV Missense < 3 11502829, 23079138, 16636593, 24926462, 34806794 5 Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 1133 g.22111520T>C Exon 10
342 c.1134del p.Ser379Alafs*14 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 16636593, 9199930, 34806794 3 - 1134 g.22111521del Exon 10
343 c.1137_1149del p.Arg380Ilefs*9 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 1137 g.22111524_22111536del Exon 10
344 c.1142G>A p.Arg381His Uncertain Significance 4/28/2021 - SNV Missense < 3 34806794 1 - 1142 g.22111529G>A Exon 10
345 c.1146del p.Gln383Serfs*10 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 1146 g.22111533del Exon 10
346 c.1147C>T p.Gln383* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 - 1147 g.22111534C>T Exon 10
347 c.1152dup p.Arg385* - 4/28/2021 Pathogenic Small insertion Frameshift < 3 23813354, 23813354, 34806794 3 - 1152 g.22111539dup Exon 10
348 c.1152T>G p.Tyr384* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 3-5 21994957, 19219621, 34806794 3 Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait abnormalities, Lower limb deformities 1152 g.22111539T>G Exon 10
349 c.1157G>A p.Trp386* Pathogenic 4/28/2021 Pathogenic SNV Nonsense < 3 32329911, 34806794 2 bowed or bent legs, dental caries, Lower Limb Deformities 1157 g.22111544G>A Exon 10
350 c.1158G>A p.Trp386* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 3-5 25894638, 16636593, 29460029, 34806794 4 Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 1158 g.22111545G>A Exon 10
351 c.? p.Trp386* - 4/28/2021 Pathogenic SNV Nonsense < 3 22101457, 34806794 2 - 1158 g.22111545 Exon 10
352 c.1164dup p.Phe389Ilefs*23 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 21050253, 34806794 2 - 1164 g.22111551dup Exon 10
353 c.1166del p.Phe389Serfs*4 - 4/28/2021 Pathogenic Small deletion Frameshift 3-5 16636593, 11502829, 34806794 3 Lower Limb Deformities 1166 g.22111553del Exon 10
354 c.1173+1G>C p.? - 4/28/2021 Pathogenic Splicing Splice donor < 3 25086671 1 - 1173 g.22111561G>C Intron 10
355 c.1173+1del Splice donor Pathogenic 4/28/2021 - Splicing Splice donor < 3 34806794 1 - 1173 g.22111561del Intron 10
356 c.1173+1G>A p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice donor 3-5 24926462, 23079138, 21902834, 34141703, 34806794 5 Gait Abnormalities, Lower Limb Deformities 1173 g.22111561G>A Intron 10
357 c.1173+2T>C Splice donor Pathogenic 4/28/2021 - Splicing Splice donor 11-20 34806794 1 Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities, Lower Limb Deformities 1173 g.22111562T>C Intron 10
358 c.1173+5G>A Intronic Likely Pathogenic 2022-02-02 00:00:00 - Splicing Intronic < 3 34806794 1 Gait Abnormalities, Lower Limb Deformities 1173 g.22111565G>A Intron 10
359 c.1173+1G>T p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice donor 3-5 22101457, 29460029, 34806794 3 Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature 1173 g.22111561G>T Intron 10
360 c.1174-?_1302+?del Deletion (Exon 11) Pathogenic 4/28/2021 - CNV Deletion < 3 34806794 1 - 1174 g.22114462_22114590del Intron 10
362 c.1174-1G>A p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice acceptor 6-10 24836714, 18162710, 28506344, 30599486, 27840894, 34141703, 34806794 7 Short Stature, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities, genu varum, stunted growth, short stature 1174 g.22114457G>A Intron 10
363 c.1180C>T p.Gln394* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 3-5 19513579, 15057978, 34806794 3 Lower Limb Deformities 1180 g.22114464C>T Exon 11
364 c.1183G>C p.Gly395Arg - 4/28/2021 Likely Pathogenic SNV Missense < 3 24836714, 34806794 2 Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 1183 g.22114467G>C Exon 11
365 c.1185del p.Thr396Profs*12 Pathogenic 4/28/2021 Pathogenic Small deletion Frameshift 3-5 15057978, 19219621, 34806794 3 Other Musculoskeletal Abnormalities, Lower Limb Deformities 1185 g.22114469del Exon 11
366 c.1204C>T p.Gln402* Pathogenic 4/28/2021 Pathogenic SNV Nonsense < 3 33639975, 34806794 2 abnormal bone development 1204 g.22114488C>T Exon 11
367 c.1206del p.Gln402Hisfs*6 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 29505567, 34806794 2 Short Stature, Lower Limb Deformities 1206 g.22114490del Exon 11
368 c.1206A>G p.Gln402Gln - 4/28/2021 Likely Benign SNV Missense < 3 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 1206 g.22114490A>G Exon 11
369 c.1208G>A p.Trp403* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 6-10 26377240, 19219621, 33666701, 34806794 4 Other Musculoskeletal Abnormalities, Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities 1208 g.22114492G>A Exon 11
370 c.1209G>A p.Trp403* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 11-20 30920082, 15057978, 9097956, 16636593, 34806794 5 Short Stature, Bone and/or Joint Pain and/or Joint Stiffness, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries 1209 g.22114493G>A Exon 11
371 c.1210del p.Asp404Thrfs*4 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 Gait Abnormalities, Lower Limb Deformities 1210 g.22114494del Exon 11
372 c.1211_1215delinsTTTACAT p.Asp404Valfs*5 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 26107949, 34806794 2 - 1211 g.22114495_22114499delinsTTTACAT Exon 11
373 c.1216T>C p.Cys406Arg Pathogenic 4/28/2021 Likely Pathogenic SNV Missense < 3 29505567, 24756041, 34806794 3 Short Stature, Bone Density Abnormalities, Lower Limb Deformities 1216 g.22114500T>C Exon 11
374 c.1217G>A p.Cys406Tyr - 4/28/2021 Pathogenic SNV Missense < 3 24926462, 23079138, 29505567, 34806794 4 Lower Limb Deformities 1217 g.22114501G>A Exon 11
375 c.1217G>T p.Cys406Phe - 4/28/2021 Pathogenic SNV Missense < 3 29460029, 29505567, 34806794 3 Short Stature, Lower Limb Deformities 1217 g.22114501G>T Exon 11
376 c.1216T>A p.Cys406Ser - 4/28/2021 Likely Pathogenic SNV Missense < 3 30682568, 24756041 2 - 1216 g.22114500T>A Exon 11
377 c.1224del p.Phe409Leufs*15 Pathogenic 4/28/2021 Pathogenic Small deletion Frameshift < 3 34141703, 34806794 2 Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries 1224 g.22114508del Exon 11
378 c.1237G>C p.Ala413Pro Likely Pathogenic 2022-02-02 00:00:00 - SNV Missense 6-10 34806794 1 - 1237 g.22114521G>C Exon 11
379 c.1251del p.Val418Leufs*6 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 1251 g.22114535del Exon 11
380 c.1263del p.Met421Ilefs*3 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 1263 g.22114547del Exon 11
381 c.1269del p.Asp424Metfs*11 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 10439971, 16636593, 34806794 3 Other Musculoskeletal Abnormalities 1269 g.22114553del Exon 11
382 c.1270_1271del p.Asp424Cysfs*7 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 15057978, 34806794 2 - 1270 g.22114554_22114555del Exon 11
383 c.1278C>G p.Tyr426* - 4/28/2021 Pathogenic SNV Nonsense 6-10 16636593, 34806794 2 - 1278 g.22114562C>G Exon 11
384 c.1282C>T p.Gln428* Pathogenic 4/28/2021 Pathogenic SNV Nonsense < 3 16636593, 15057978, 14564066, 34806794 4 Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature 1282 g.22114566C>T Exon 11
385 c.1294A>T p.Lys432* - 4/28/2021 Pathogenic SNV Nonsense 6-10 23813354, 22713460, 29901142, 24857004, 27840894, 34141703, 34806794 7 Short Stature, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Bone Density Abnormalities, abnormal bone development, genu varum, difficulty walking, stunted growth, bowed or bent leg, short stature 1294 g.22114578A>T Exon 11
386 c.1302+1G>A p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice donor 6-10 26377240, 32329911, 9097956, 32253725, 34806794 5 muscle weakness, bowed or bent legs, Gait abnormalities, Lower limb deformities, Short Stature, abnormal bone development, pectus carinatum, short stature 1302 g.22114587G>A Intron 11
387 c.1302+1G>T p.? Likely Pathogenic 4/28/2021 Pathogenic Splicing Splice donor < 3 9097956, 16636593, 34806794 3 - 1302 g.22114587G>T Intron 11
388 c.1302+1G>C Splice donor Pathogenic 4/28/2021 - Splicing Splice donor < 3 34806794 1 - 1302 g.22114587G>C Intron 11
389 c.1303-?_2070+?dup Gain (Exons 12-20) Uncertain Significance 4/28/2021 - CNV Duplication < 3 34806794 1 - 1303 g.22133523_22227611dup Intron 11
390 c.? Intron 12 - Exon 13 Likely Pathogenic 4/28/2021 - CNV Unknown < 3 34806794 1 - 1303 g.22133523 Intron 12 - Exon 13
392 c.1303-?_1404+?del Deletion (Exon 12) Pathogenic 4/28/2021 Uncertain Significance CNV Deletion 6-10 16636593, 32329911, 9199930, 32253725, 33666701, 34141703, 34806794 7 Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Lower limb deformities, abnormal bone development, pectus carinatum, bowed or bent leg, short stature 1303 g.22133523_22133624del Intron 11
393 c.1303-?_1404+?dup Gain (Exon 12) Pathogenic 2022-02-02 00:00:00 - CNV Duplication 3-5 34806794 1 Lower limb deformities, Reduced Serum Phosphate 1303 g.22133523_22133624dup Intron 11
394 c.1301-?_1899+?del Deletion (Exons 12-18) Uncertain Significance 4/28/2021 - CNV Deletion < 3 34806794 1 - 1301 g.22114585_22221743del Exons 12-18
395 c.1303-?_1482+?dup Gain (Exons 12-13) Uncertain Significance 4/28/2021 - CNV Duplication < 3 34806794 1 Lower Limb Deformities 1303 g.22133523_22168389dup Intron 11
396 c.1303-1G>T p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice acceptor 3-5 26051471, 34806794 2 Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities 1303 g.22133522G>T Intron 11
398 c.1304T>G p.Met435Arg Uncertain Significance 4/28/2021 - Splicing Intronic 3-5 34806794 1 Lower Limb Deformities, Gait Abnormalities, Gait abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities 1304 g.22133524T>G Exon 12
399 c.1305_1306insC p.Glu436Argfs*5 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 21050253, 34806794 2 - 1305 g.22133525_22133526insC Exon 12
401 c.1309dup p.Glu437Glyfs*4 Pathogenic 4/28/2021 - Small duplication Frameshift 3-5 34806794 1 Lower limb deformities, Reduced Serum Phosphate 1309 g.22133529dup Exon 12
402 c.1309G>T p.Glu437* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 1309 g.22133529G>T Exon 12
403 c.1313T>C p.Leu438Ser Likely Pathogenic 4/28/2021 - SNV Missense 3-5 34806794 1 - 1313 g.22133533T>C Exon 12
404 c.1313del p.Leu438Trpfs*13 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 1313 g.22133533del Exon 12
405 c.1313T>G p.Leu438Trp - 4/28/2021 Likely Pathogenic SNV Missense < 3 22695891, 34806794 2 - 1313 g.22133533T>G Exon 12
406 c.1319_1321del p.Glu440del - 4/28/2021 Likely Pathogenic Small deletion Deletion < 3 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 1319 g.22133539_22133541del Exon 12
407 c.1324G>T p.Val442Phe - 4/28/2021 Likely Pathogenic SNV Missense 3-5 33639975, 15057978, 34806794 3 radiological signs of rickets, short stature, abnormal bone development 1324 g.22133544G>T Exon 12
408 c.1328G>C p.Arg443Pro Uncertain Significance 4/28/2021 - SNV Missense < 3 34806794 1 - 1328 g.22133548G>C Exon 12
409 c.1328G>A p.Arg443His Uncertain Significance 4/28/2021 - SNV Missense < 3 34806794 1 - 1328 g.22133548G>A Exon 12
410 c.1331G>A p.Trp444* - 4/28/2021 Pathogenic SNV Nonsense < 3 32329911, 22695891, 34806794 3 dental caries 1331 g.22133551G>A Exon 12
411 c.1332G>A p.Trp444* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 6-10 24836714, 29901142, 34141703, 34806794 4 Bone and/or Joint Pain and/or Joint Stiffness, short stature, Lower Limb Deformities, Gait Abnormalities, Gait abnormalities, Lower limb deformities, teeth falling out 1332 g.22133552G>A Exon 12
412 c.1332_1333insAAC p.Trp444_Ala445insAsn - 4/28/2021 Likely Pathogenic Small insertion Insertion < 3 11004247, 16636593, 34806794 3 - 1332 g.22133552_22133553insAAC Exon 12
413 c.1335del p.Phe446Leufs*5 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 1335 g.22133555del Exon 12
414 c.1349T>C p.Leu450Pro - 4/28/2021 Likely Pathogenic SNV Missense < 3 21050253, 34806794 2 - 1349 g.22133569T>C Exon 12
415 c.1351G>T p.Glu451* - 4/28/2021 Pathogenic SNV Nonsense < 3 10439971, 23079138, 16636593, 24926462, 34806794 5 Other Musculoskeletal Abnormalities 1351 g.22133571G>T Exon 12
416 c.1357_1360del p.Glu453Metfs*29 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 29460029, 34806794 2 - 1357 g.22133577_22133580del Exon 12
417 c.1363G>T p.Glu455* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 6-10 10439971, 23079138, 16636593, 24926462, 22261628, 18162710, 30599486, 34806794 8 Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities 1363 g.22133583G>T Exon 12
418 c.1366T>A p.Trp456Arg - 4/28/2021 Likely Pathogenic SNV Missense < 3 29460029, 34806794 2 - 1366 g.22133586T>A Exon 12
419 c.1367G>A p.Trp456* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 3-5 9199930, 16636593, 30607568, 33639975, 32253725, 34806794 6 abnormal bone development, pectus carinatum, bowed or bent leg, short stature 1367 g.22133587G>A Exon 12
420 c.1368G>A p.Trp456* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 3-5 22577109, 34806794 2 Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 1368 g.22133588G>A Exon 12
421 c.1368G>C p.Trp456Cys Pathogenic 4/28/2021 Likely Pathogenic SNV Missense 3-5 29460029, 34806794 2 - 1368 g.22133588G>C Exon 12
422 c.? p.Trp456Cys - 4/28/2021 Likely Pathogenic SNV Missense 6-10 10439971, 22101457, 12001226, 34806794 4 short stature, abnormal bone development 1368 g.22133587 Exon 12
423 c.1382C>G p.Thr461Arg Likely Pathogenic 2022-02-02 00:00:00 - SNV Missense 3-5 34806794 1 Lower Limb Deformities 1382 g.22133602C>G Exon 12
424 c.1387del p.Arg463Glyfs*20 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 Gait Abnormalities, Lower Limb Deformities 1387 g.22133607del Exon 12
425 c.1394C>A p.Ala465Asp Uncertain Significance 4/28/2021 - SNV Missense < 3 34806794 1 - 1394 g.22133614C>A Exon 12
426 c.1399G>T p.Glu467* Pathogenic 4/28/2021 Pathogenic SNV Nonsense < 3 16636593, 34141703, 34806794 3 Gait Abnormalities, Lower Limb Deformities 1399 g.22133619G>T Exon 12
427 c.1400_1404del p.Glu467Glyfs*17 Pathogenic 4/28/2021 Pathogenic Small deletion Frameshift < 3 16636593, 15057978, 34806794 3 - 1400 g.22133620_22133624del Exon 12
428 c.1402A>G p.Lys468Glu Uncertain Significance 4/28/2021 Likely Pathogenic Splicing Missense < 3 32329911, 34806794 2 bone pain, bowed or bent legs 1402 g.22133622A>G Exon 12
429 c.1403A>C p.Lys468Thr Pathogenic 2022-02-02 00:00:00 - Splicing Intronic < 3 34806794 1 Reduced Serum Phosphate 1403 g.22133623A>C Exon 12
430 c.1403del p.Lys468Argfs*15 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 16636593, 19219621, 34806794 3 Other Musculoskeletal Abnormalities, Lower Limb Deformities 1403 g.22133623del Exon 12
431 c.1404+2_1404+6del p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice donor < 3 22695891, 34806794 2 Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries 1404 g.22133626_22133630del Intron 12
432 c.1404G>C p.Lys468Asn Likely Pathogenic 4/28/2021 Likely Pathogenic Splicing Missense 3-5 33358363, 33639975, 34806794 3 Lower Limb Deformities 1404 g.22133624G>C Exon 12
433 c.1404+1del p.? - 4/28/2021 Pathogenic Small deletion Splice donor < 3 29505567, 34806794 2 Short Stature, Lower Limb Deformities 1404 g.22133625del Intron 12
434 c.1405-?_2070+?dup Gain (Exons 13-20) Likely Pathogenic 2022-02-02 00:00:00 - CNV Duplication 3-5 34806794 1 Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Fractures/Pseudo-Fractures 1405 g.22168313_22227612dup Intron 12
436 c.1405-?_*3357+?del Deletion (Exons 13-22) Pathogenic 4/28/2021 Pathogenic CNV Deletion 6-10 24926462, 21902834, 23079138, 34806794 4 Gait abnormalities, Muscle pain and/or weakness and/or fatigue, Reduced_TmP/GFR_(<LLN), Reduced Serum Phosphate, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Lower limb deformities 1405 g.22168313_22251311del Intron 12
437 c.1405-?_1645+?dup Gain (Exons 13-15) Pathogenic 2022-02-02 00:00:00 - CNV Duplication 30+ 34806794 1 Fractures/Pseudo-Fractures, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities 1405 g.22168313_22190503dup Intron 12
439 c.1406_1488del - - 4/28/2021 Uncertain Significance Small deletion Frameshift < 3 16636593, 34806794 2 - 1406 g.22168313_22178278del Exon 13
440 c.1405-?_1645+?del Deletion (Exons 13-15) - 4/28/2021 Likely Pathogenic CNV Deletion < 3 24926462, 23079138, 21902834, 34806794 4 - 1405 g.22168313_22190503del Exon 13 - 15
442 c.1412_1417del p.Ala471_Leu473delinsVal Uncertain Significance 4/28/2021 - Small deletion Deletion < 3 34806794 1 Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 1412 g.22168319_22168324del Exon 13
443 c.1434T>A p.Tyr478* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 3-5 16636593, 9097956, 19219621, 34806794 4 Other Musculoskeletal Abnormalities, Lower Limb Deformities 1434 g.22168341T>A Exon 13
444 c.1471del p.Asp491Thrfs*23 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 27884786, 19219621, 34806794 3 bowed or bent legs, Other Musculoskeletal Abnormalities, Lower Limb Deformities 1471 g.22168378_22168379del Exon 13
445 c.1474del p.Leu492Serfs*22 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 29460029, 34806794 2 - 1474 g.22168382_22168383del Exon 13
446 c.1482+5G>C p.? Pathogenic 4/28/2021 Pathogenic Splicing Intronic 3-5 31102713, 16636593, 29460029, 34275936, 34806794 5 Fractures/Pseudo-Fractures, Lower Limb Deformities, gait disturbance, abnormal bone development, bowed or bent leg, cupping and fraying of metaphyses 1482 g.22168394G>C Intron 13
447 c.1482+1G>T p.? - 4/28/2021 Pathogenic Splicing Splice donor 3-5 23079138, 11502829, 34806794 3 Lower Limb Deformities 1482 g.22168390G>T Intron 13
448 c.1482+3_1482+4delinsT p.? - 4/28/2021 Uncertain Significance Deletion/Insertion Intronic < 3 19219621, 34806794 2 - 1482 g.22168392_22168393delinsT Intron 13
449 c.1482+2T>G Splice donor Pathogenic 4/28/2021 - Splicing Splice donor < 3 34806794 1 - 1482 g.22168391T>G Intron 13
450 c.1482+3A>C Intronic Pathogenic 2022-02-02 00:00:00 - Splicing Intronic 6-10 34806794 1 Lower Limb Deformities, Gait Abnormalities, Fractures/Pseudo-Fractures, Reduced Serum Phosphate, Tooth Abscesses and/or Excessive Dental Caries 1482 g.22168392A>C Intron 13
451 c.1482+1G>C p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice donor 3-5 9768674, 21050253, 24926462, 16636593, 31102713, 34141703, 34806794 7 Lower Limb Deformities 1482 g.22168390G>C Intron 13
452 c.1482+4del p.? - 4/28/2021 Likely Pathogenic Splicing Intronic 3-5 24926462, 33639975, 21902834, 34806794 4 Short Stature, Other Musculoskeletal Abnormalities 1482 g.22168393del Intron 13
453 c.1482+1G>A Splice donor Pathogenic 4/28/2021 - Splicing Splice donor 3-5 34806794 1 Gait Abnormalities, Lower Limb Deformities 1482 g.22168390G>A Intron 13
454 c.1483-1G>A p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice acceptor 6-10 22577109, 33295632, 34806794 3 bowed or bent legs, lumbar hyperlordosis, knock knee, Lower Limb Deformities, Gait Abnormalities 1483 g.22178272G>A Intron 13
455 c.1483-?_1586+?del Deletion (Exon 14) Pathogenic 4/28/2021 - CNV Deletion < 3 33295632, 34806794 2 - 1483 g.22178273_22178376del Exon 14
456 c.1483-?_1645+?del Deletion (Exons 14-15) Pathogenic 4/28/2021 - CNV Deletion < 3 34806794 1 - 1483 g.22178273_22190502del Intron 13
457 c.1483-1G>C p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice acceptor 11-20 31567381, 27840894, 34218635, 34141703, 34806794 5 Short Stature, genu varum, Lower limb deformities, Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Bone Density Abnormalities, stunted growth 1483 g.22178272G>C Intron 13
458 c.1483-2A>G p.? - 4/28/2021 Pathogenic Splicing Splice acceptor < 3 24926462, 23079138, 25031893, 34806794 4 Lower Limb Deformities 1483 g.22178271A>G Intron 13
460 c.? p.Lys496* - 2022-02-02 00:00:00 Pathogenic SNV Nonsense 3-5 23700148, 29381780, 22573557, 22006791, 28005411, 34806794 6 - 1488 g.22178281 Exon 14
461 c.1491_1509del p.Phe497Leufs*11 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 26377240, 34806794 2 - 1491 g.22178281_22178299del Exon 14
462 c.1503_1504insGACT p.Tyr502Aspfs*17 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 24926462, 23079138, 16636593, 10439971, 34806794 5 abnormal bone development 1503 g.22178293_22178294insGACT Exon 14
463 c.1519C>G p.Leu507Val Uncertain Significance 4/28/2021 - SNV Missense < 3 34806794 1 Fractures/Pseudo-Fractures, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 1519 g.22178309C>G Exon 14
464 c.1520T>C p.Leu507Pro Uncertain Significance 4/28/2021 - SNV Missense 3-5 34806794 1 - 1520 g.22178310T>C Exon 14
465 c.1522C>T p.Gln508* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 3-5 21050253, 19219621, 22695891, 34806794 4 Other Musculoskeletal Abnormalities, Lower Limb Deformities 1522 g.22178312C>T Exon 14
466 c.1523_1537del p.Gln508_Tyr512del - 4/28/2021 Likely Pathogenic Small deletion Deletion < 3 15057978, 34806794 2 - 1523 g.22178313_22178327del Exon 14
467 c.1532del p.Lys511Serfs*3 Pathogenic 4/28/2021 Pathogenic Small deletion Frameshift 11-20 18625346, 11502829, 16636593, 34806794 4 Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 1532 g.22178322del Exon 14
468 c.1529G>C p.Arg510Pro - 4/28/2021 Likely Pathogenic SNV Missense < 3 23079138, 15057978, 16636593, 24926462, 21902834, 34806794 6 Short Stature, Other Musculoskeletal Abnormalities 1529 g.22178319G>C Exon 14
469 c.1531A>T p.Lys511* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 - 1531 g.22178321A>T Exon 14
471 c.1535del p.Tyr512Phefs*2 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 Lower Limb Deformities 1535 g.22178325del Exon 14
472 c.1543C>T p.Gln515* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 6-10 26377240, 23079138, 24926462, 21902834, 31927522, 34806794 6 Reduced_TmP/GFR_(<LLN), Other Musculoskeletal Abnormalities, Short Stature, Reduced Serum Phosphate, bone pain, gait disturbance, abnormal dental development, bowed or bent legs, stunted growth, abnormal bone development, osteoporosis 1543 g.22178333C>T Exon 14
473 c.1553del p.Phe518Serfs*4 - 4/28/2021 Pathogenic Small deletion Frameshift 3-5 25060345, 34806794 2 Short Stature, Hearing Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries 1553 g.22178344_22178345del Exon 14
474 c.1560del p.Trp520Cysfs*2 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 23079138, 16636593, 24926462, 9199930, 34806794 5 - 1560 g.22178350_22178351del Exon 14
475 c.1572dup p.Val525Argfs*57 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 16636593, 9199930, 34806794 3 - 1572 g.22178362_22178363dup Exon 14
477 c.1586+1G>T Splice donor Pathogenic 4/28/2021 Pathogenic Splicing Splice donor < 3 32253725, 34806794 2 abnormal bone development, pectus carinatum, bowed or bent leg, short stature 1586 g.22178377G>T Intron 14
478 c.1586+6T>C p.? - 4/28/2021 Pathogenic Splicing Intronic < 3 18625346, 31102713, 20157195, 34806794 4 - 1586 g.22178382T>C Intron 14
479 c.1586+1G>A p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice donor 3-5 28506344, 26051471, 31102713, 29505567, 34806794 5 Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Short Stature 1586 g.22178377G>A Intron 14
480 c.1586+3_1586+6del p.Glu529Valfs*52 Pathogenic 4/28/2021 Pathogenic Small deletion Intronic, Frameshift 11-20 10439971, 32329911, 11502829, 9106524, 22695891, 24926462, 19219621, 18625346, 34806794 9 Other Musculoskeletal Abnormalities, Reduced Serum Phosphate, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Gait abnormalities, Lower limb deformities, 1586 g.22178379_22178382del Intron 14, Exon 14 - 15
481 c.1586+1G>C Splice donor Pathogenic 4/28/2021 - Splicing Splice donor < 3 34806794 1 - 1586 g.22178377G>C Intron 14
482 c.1586+2T>G p.? - 4/28/2021 Pathogenic Splicing Splice donor < 3 29505567, 34806794 2 Short Stature, Lower Limb Deformities 1586 g.22178378T>G Intron 14
483 c.1586+2T>A Splice donor Pathogenic 4/28/2021 - Splicing Splice donor < 3 34806794 1 - 1586 g.22178378T>A Intron 14
484 c.1586_1586+1del p.? Pathogenic 4/28/2021 Pathogenic Small deletion Splice donor 11-20 19429806, 10439971, 24229582, 19219621, 27840894, 34141703, 34806794, 23079138, 30599486, 24926462 10 stunted growth, pectus carinatum, abnormal bone development, genu varum 1586 g.22178376_22178377del Exon 14 - 15, Intron 14
485 c.1587-?_2070+?del Deletion (Exons 15-20) Pathogenic 4/28/2021 - CNV Deletion 3-5 34141703, 34806794 2 - 1587 g.22190447_22227614del Intron 14
486 c.1587-?_1645+?del Deletion (Exon 15) Pathogenic 4/28/2021 - CNV Deletion 3-5 32253725, 34806794 2 Lower Limb Deformities, abnormal bone development, pectus carinatum, bowed or bent leg, short stature 1587 g.22190447_22190505del Intron 14
487 - Exon 15 Likely Pathogenic 4/28/2021 - CNV Deletion < 3 34806794 1 - 1587 g.22190447 Exon 15
488 c.1587-1G>A Splice acceptor Pathogenic 4/28/2021 - Splicing Splice acceptor 6-10 34806794 1 Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Tooth abscesses and/or excessive dental caries 1587 g.22190443G>A Intron 14
489 c.1587-1G>C p.? - 4/28/2021 Pathogenic Splicing Splice acceptor 6-10 28506344, 31903094, 22695891, 34806794 4 - 1587 g.22190443G>C Intron 14
490 c.1590G>C p.Trp530Cys - 4/28/2021 Likely Pathogenic SNV Missense < 3 10439971, 16636593, 34806794 3 Other Musculoskeletal Abnormalities 1590 g.22190447G>C Exon 15
491 c.1590G>A p.Trp530* Pathogenic 4/28/2021 Pathogenic SNV Nonsense < 3 9768674, 16636593, 34806794 3 - 1590 g.22190447G>A Exon 15
492 c.1593dup p.Thr532Tyrfs*50 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 - 1593 g.22190450dup Exon 15
493 c.1600C>T p.Pro534Ser - 4/28/2021 Likely Pathogenic SNV Missense 3-5 28383812, 29460029, 34806794 3 Lower Limb Deformities 1600 g.22190457C>T Exon 15
494 c.1600C>A p.Pro534Thr Pathogenic 4/28/2021 Likely Pathogenic SNV Missense 3-5 22577109, 28383812, 34806794 3 Lower limb deformities, Reduced Serum Phosphate, Lower Limb Deformities 1600 g.22190457C>A Exon 15
495 c.1601C>T p.Pro534Leu Pathogenic 4/28/2021 Pathogenic SNV Missense 30+ 10439971, 9199930, 23813354, 23079138, 22101457, 29460029, 9768674, 15057978, 16055933, 9097956, 25894638, 22261628, 18162710, 30599486, 22713460, 33639975, 32329911, 24660072, 11502829, 30682568, 22695891, 24926462, 25042154, 20688626, 32104046, 29505567, 19219621, 29707405, 21050253, 16636593, 17467977, 10874297, 10894185, 21604088, 32253725, 27840894, 33783172, 34141703, 34806794 39 Other Musculoskeletal Abnormalities, Reduced_TmP/GFR_(<LLN), Short Stature, Lower limb deformities, Bone and/or Joint Pain and/or Joint Stiffness, Lower Limb Deformities, Gait Abnormalities, Fractures/Pseudo-Fractures, Reduced Serum Phosphate, Tooth Abscesses and/or Excessive Dental Caries, Bone Density Abnormalities, Thyroid, teeth falling out, genu varum, stunted growth, short stature 1601 g.22190458C>T Exon 15
496 c.1605_1607del p.Thr536del - 4/28/2021 Likely Pathogenic Small deletion Deletion < 3 19513579, 34806794 2 Short Stature, Lower Limb Deformities 1605 g.22190462_22190464del Exon 15
497 c.1645+2T>C Splice donor - 4/28/2021 Pathogenic Splicing Splice donor < 3 9199930, 34806794 2 - 1645 g.22190504T>C Intron 15
498 c.1639C>T p.Gln547* - 4/28/2021 Pathogenic SNV Nonsense < 3 24926462, 23079138, 21902834, 34806794 4 Short Stature, Other Musculoskeletal Abnormalities 1639 g.22190496C>T Exon 15
500 c.1645+2T>G Splice donor Pathogenic 4/28/2021 - Splicing Splice donor < 3 34806794 1 Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 1645 g.22190504T>G Intron 15
501 c.1645+5G>A p.? - 4/28/2021 Pathogenic Splicing Intronic, Frameshift 6-10 11502829, 16636593, 31102713, 33639975, 19219621, 34141703, 34806794 7 Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities 1645 g.22190507G>A Intron 15
502 c.1645+6T>C p.? - 4/28/2021 Pathogenic Splicing Intronic < 3 18625346, 31102713, 34806794 3 - 1645 g.22190508T>C Intron 15
503 c.1645+1G>A p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice donor 30+ 10439971, 23079138, 24857004, 21902834, 22101457, 25086671, 15057978, 32619592, 18625346, 33639975, 32329911, 11502829, 30682568, 22695891, 24926462, 19219621, 33295632, 16636593, 31102713, 24102521, 33666701, 34141703, 34806794 23 Other Musculoskeletal Abnormalities, Reduced_TmP/GFR_(<LLN), Short Stature, Lower Limb Deformities, Gait Abnormalities, Fractures/Pseudo-Fractures, Reduced Serum Phosphate, Tooth Abscesses and/or Excessive Dental Caries, Skull Deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries, short stature, bowed or bent legs, osteopenia, radiological signs of rickets 1645 g.22190503G>A Intron 15
504 c.1645+4A>G p.? - 4/28/2021 Likely Pathogenic Splicing Intronic < 3 30682568, 34806794 2 - 1645 g.22190506A>G Intron 15
505 c.1645C>T p.Arg549* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 30+ 29460029, 24836714, 23079138, 15057978, 9097956, 29901142, 16636593, 24926462, 25894638, 19219621, 21902834, 26051471, 31102713, 29505567, 34141703, 34806794 16 Other Musculoskeletal Abnormalities, Short Stature, Fractures/Pseudo-Fractures, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries 1645 g.22190502C>T Exon 15 - 16
506 c.1645+1G>T Splice donor Pathogenic 4/28/2021 nan Splicing Splice donor < 3 34806794 1 Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short Stature 1645 g.22190503G>T Intron 15
507 c.1646-?_2070+?del Deletion (Exons 16-20) Pathogenic 4/28/2021 - CNV Deletion 3-5 34806794 1 - 1646 g.22212905_22227612del Intron 15
508 c.1646-?_1700+?del Deletion (Exon 16) Pathogenic 4/28/2021 Pathogenic CNV Deletion 3-5 29460029, 31474501, 34141703, 34806794 4 - 1646 g.22212905_22212959del Exon 16
510 c.1646-2A>T p.? - 4/28/2021 Pathogenic Splicing Splice acceptor 3-5 28506344, 24836714, 34141703, 34806794 4 Lower Limb Deformities 1646 g.22212902A>T Intron 15
512 c.1646-?_*3357+?del Deletion (Exons 16-22) Pathogenic 4/28/2021 Pathogenic CNV Deletion 3-5 24926462, 29460029, 31474501, 22695891, 23079138, 21902834, 34141703, 34806794 8 nephrocalcinosis, hyperparathyroidism, abnormal bone development 1646 g.22212905_22251311del Exon 16 - 22
515 c.1646-2A>G p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice acceptor 3-5 16261449, 34806794 2 Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities 1646 g.22212902A>G Intron 15
516 c.1646-?_2070+?dup Gain (Exons 16-20) - 4/28/2021 Uncertain Significance CNV Duplication < 3 22695891, 34806794 2 - 1646 g.22212905_22227612dup Exon 16 - 20
517 c.1646_?del p.Arg549_?del - 4/28/2021 Uncertain Significance Small deletion Deletion 3-5 30607568, 33639975, 34806794 3 radiological signs of rickets, abnormal bone development 1646 g.22212904_22212905del Exon 16
518 c.1646G>C p.Arg549Pro Pathogenic 4/28/2021 Likely Pathogenic SNV Missense 6-10 22577109, 25839938, 18625346, 34806794 4 Other Musculoskeletal Abnormalities, Bone and/or Joint Pain and/or Joint Stiffness, Fractures/Pseudo-Fractures, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Short Stature 1646 g.22212904G>C Exon 15 - 16
519 c.1646-1G>C Splice acceptor Pathogenic 4/28/2021 - Splicing Splice acceptor < 3 34806794 1 - 1646 g.22212903G>C Intron 15
521 c.1646-?_1768+?del Deletion (Exons 16-17) - 4/28/2021 Pathogenic Small deletion Deletion 3-5 9768674, 16636593, 34806794 3 - 1646 g.22212904_22212926del Exon 16 - 17
522 c.1694del p.Tyr565Phefs*5 - 4/28/2021 Pathogenic Small deletion Frameshift 3-5 24836714, 34141703, 34806794 3 Lower Limb Deformities 1694 g.22212952del Exon 16
523 c.1654G>A p.Ala552Thr - 4/28/2021 Uncertain Significance SNV Missense < 3 21902834, 34806794 2 - 1654 g.22212912G>A Exon 16
524 c.1657G>T p.Gly553* - 4/28/2021 Pathogenic SNV Nonsense < 3 26377240, 34806794 2 - 1657 g.22212915G>T Exon 16
525 c.1658G>A p.Gly553Glu - 4/28/2021 Pathogenic SNV Missense < 3 21050253, 32329911, 34806794 3 bowed or bent legs, dental caries 1658 g.22212916G>A Exon 16
526 c.1660G>T p.Glu554* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 - 1660 g.22212918G>T Exon 16
527 c.1664T>C p.Leu555Pro Pathogenic 4/28/2021 Likely Pathogenic SNV Missense 11-20 9768646, 16636593, 19219621, 34806794 4 Lower Limb Deformities 1664 g.22212922T>C Exon 16
528 c.1666C>T p.Gln556* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 3-5 31658436, 32253725, 34806794 3 abnormal bone development, bowed or bent leg, short stature 1666 g.22212924C>T Exon 16
529 c.1670del p.Lys557Serfs*13 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 29460029, 34806794 2 - 1670 g.22212928_22212929del Exon 16
530 c.1672C>G p.Pro558Ala - 4/28/2021 Likely Pathogenic SNV Missense 3-5 18046499, 23813354, 21293852, 24857004, 34806794 5 - 1672 g.22212930C>G Exon 16
531 c.1768+? Poly T - - 4/28/2021 Pathogenic SNV Unknown < 3 9768674, 34806794 2 - 1768 g.22219105del Intron 17
532 c.1681_1682insAlu p.Phe560fs Pathogenic 4/28/2021 - Small insertion Frameshift 3-5 34806794 1 - 1681 g.22212939_22212940insA Exon 16
533 c.1683G>A p.Trp561* - 4/28/2021 Pathogenic SNV Nonsense < 3 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 1683 g.22212941G>A Exon 16
534 c.1684G>T p.Gly562* - 4/28/2021 Pathogenic SNV Nonsense < 3 15057978, 34806794 2 - 1684 g.22212942G>T Exon 16
535 c.1685dup p.Thr563Asnfs*19 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 - 1685 g.22212943_22212944dup Exon 16
536 c.1685del p.Gly562Glufs*8 Pathogenic 4/28/2021 Pathogenic Small deletion Frameshift < 3 18625346, 34806794 2 - 1685 g.22212943_22212944del Exon 16
537 c.1692del p.Glu564Aspfs*6 - 4/28/2021 Pathogenic Small deletion Frameshift 6-10 31537998, 34806794 2 Short Stature, Lower Limb Deformities 1692 g.22212952_22212953del Exon 16
538 c.1695T>A p.Tyr565* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 - 1695 g.22212953T>A Exon 16
539 c.1699C>T p.Arg567* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 30+ 16303832, 32329911, 29460029, 21994957, 21293852, 29901142, 21050253, 30599486, 25894638, 22261628, 18162710, 18625346, 22101457, 24229582, 33639975, 19219621, 24857004, 34141703, 34806794 19 Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait Abnormalities, Fractures/Pseudo-Fractures, Tooth Abscesses and/or Excessive Dental Caries, abnormal bone development, bowed or bent leg, short stature 1699 g.22212957C>T Exons 16-17
540 c.1768+?ins - - 4/28/2021 Pathogenic Splicing Unknown < 3 9768674, 34806794 2 - 1768 g.22219104_22221612delinsA Intron 17
541 c.1700G>A - - 4/28/2021 Pathogenic Splicing Unknown < 3 9097956, 34806794 2 - 1700 g.22212958G>A Exon 16
542 c.1700+1G>T Splice donor Pathogenic 4/28/2021 - Splicing Splice donor 6-10 34806794 1 Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries 1700 g.22212959G>T Intron 16
543 c.1700+1G>C Splice donor Pathogenic 4/28/2021 - Splicing Splice donor < 3 34806794 1 Gait Abnormalities, Lower limb deformities, Lower Limb Deformities 1700 g.22212959G>C Intron 16
544 c.1700G>C p.Arg567Pro Pathogenic 2022-02-02 00:00:00 Likely Pathogenic SNV Missense < 3 21994957, 16636593, 34806794 3 Reduced Serum Phosphate 1700 g.22212958G>C Exons 16-17
545 c.1700+1G>A p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice donor 6-10 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities 1700 g.22212959G>A Intron 16
546 c.1701-16T>A p.? - 4/28/2021 Pathogenic Splicing Intronic 6-10 31102713, 31821448, 9097956, 34806794 4 - 1701 g.22219020T>A Intron 16
547 c.1701-?_2070+?del Deletion (Exons 17-20) Pathogenic 4/28/2021 Likely Pathogenic CNV Deletion < 3 23079138, 24926463, 24926462, 21902834, 34806794 5 Lower Limb Deformities, hyperparathyroidism, abnormal bone development 1701 g.22219036_22227611del Exons 17-20
548 c.1701-1del Splice acceptor Likely Pathogenic 4/28/2021 - Splicing Splice acceptor < 3 34806794 1 Gait Abnormalities, Lower Limb Deformities 1701 g.22219035del Intron 16
549 c.1701-?_*3357+?del Deletion (Exons 17-22) Pathogenic 4/28/2021 Uncertain Significance CNV Deletion < 3 16636593, 33295633, 32329911, 9199930, 34806794 5 Lower Limb Deformities 1701 g.22219036_22251310del Exons 17-22
550 c.1701-2A>G Splice acceptor Pathogenic 4/28/2021 - Splicing Splice acceptor 3-5 34806794 1 - 1701 g.22219034A>G Intron 16
552 c.1701-?_1899+?del Deletion (Exons 17-18) Pathogenic 4/28/2021 - CNV Deletion < 3 32329911, 34806794 2 Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities 1701 g.22219036_22221743del Exons 17-18
553 c.1701-2A>T Splice acceptor Pathogenic 4/28/2021 - Splicing Splice acceptor < 3 34806794 1 - 1701 g.22219034A>T Intron 16
554 c.1702T>C p.Ser568Pro Uncertain Significance 4/28/2021 - Splicing Intronic < 3 34806794 1 Gait Abnormalities, Lower Limb Deformities 1702 g.22219037T>C Exon 17
555 c.1705_1706del p.Leu569Glufs*12 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 21050253, 34806794 2 - 1705 g.22219040_22219041del Exon 17
556 c.1708del p.Ser570Valfs*5 - 4/28/2021 Pathogenic Small deletion Deletion < 3 34806794 1 - 1708 g.22219043_22219044del Exon 17
557 c.1713T>G p.Tyr571* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 - 1713 g.22219048T>G Exon 17
558 c.1714G>A p.Gly572Ser Pathogenic 4/28/2021 Pathogenic SNV Missense 6-10 30238432, 32329911, 34806794 3 bowed or bent legs, Lower Limb Deformities, Fractures/Pseudo-Fractures 1714 g.22219049G>A Exon 17
559 c.1714G>C p.Gly572Arg Uncertain Significance 4/28/2021 - SNV Missense < 3 34806794 1 - 1714 g.22219049G>C Exon 17
560 c.1715G>T p.Gly572Val Likely Pathogenic 4/28/2021 Likely Pathogenic SNV Missense < 3 32253725, 34806794 2 abnormal bone development, pectus carinatum, bowed or bent leg 1715 g.22219050G>T Exon 17
561 c.1715G>A p.Gly572Asp Pathogenic 4/28/2021 Likely Pathogenic SNV Missense 11-20 11502829, 23079138, 16055933, 16636593, 24926462, 18162710, 30599486, 34806794 8 Reduced Serum Phosphate, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities 1715 g.22219050G>A Exon 17
562 c.1718C>A p.Ala573Asp - 4/28/2021 Likely Pathogenic SNV Missense < 3 10439971, 16636593, 24926462, 23079138, 34806794 5 Other Musculoskeletal Abnormalities 1718 g.22219053C>A Exon 17
563 c.1721T>A p.Ile574Lys Likely Pathogenic 4/28/2021 Likely Pathogenic SNV Missense 3-5 29393334, 34806794 2 Short Stature, Bone Density Abnormalities, Lower Limb Deformities 1721 g.22219056T>A Exon 17
564 c.1723G>A p.Gly575Arg Likely Pathogenic 2022-02-02 00:00:00 - SNV Missense < 3 34806794 1 Reduced Serum Phosphate 1723 g.22219058G>A Exon 17
565 c.1724G>A p.Gly575Glu Pathogenic 2022-02-02 00:00:00 Likely Pathogenic SNV Missense < 3 33049132, 34806794 2 - 1724 g.22219059G>A Exon 17
566 c.1727_1738del p.Val576_His580delinsAsp Likely Pathogenic 4/28/2021 Likely Pathogenic Small deletion Deletion/Insertion 3-5 21050253, 34806794 2 - 1727 g.22219062_22219073del Exon 17
567 c.1728_1731dup p.Val578Asnfs*5 - 4/28/2021 Pathogenic Small duplication Frameshift < 3 22695891, 34806794 2 - 1728 g.22219063_22219066dup Exon 17
568 c.1735G>A p.Gly579Arg Pathogenic 4/28/2021 Pathogenic SNV Missense 30+ 9199930, 23079138, 20838491, 21902834, 29460029, 9768674, 32133333, 15057978, 22577109, 18625346, 33639975, 32329911, 28163769, 19219621, 27884786, 21293852, 20157195, 16636593, 24684036, 24229582, 24857004, 32253725, 33796255, 34141703, 34806794, 9097956, 10439971, 27221261 28 Other Musculoskeletal Abnormalities, Reduced_TmP/GFR_(<LLN), Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures, abnormal bone development, bowed or bent leg, short stature 1735 g.22219070G>A Exon 17
569 c.? p.Gly579Arg - 4/28/2021 Pathogenic SNV Missense 11-20 10439971, 15470265, 23813354, 30682568, 10874297, 9097956, 25894638, 18046499, 12111239, 21604088, 27221261, 34806794 12 Other Musculoskeletal Abnormalities 1737 g.22219071 Exon 17
570 c.1735G>C p.Gly579Arg - 4/28/2021 Pathogenic SNV Missense < 3 9199930, 11468271, 24926462, 24684036, 12727977, 20838491, 34806794 7 - 1735 g.22219070G>C Exon 17
571 c.1736G>T p.Gly579Val Likely Pathogenic 4/28/2021 Pathogenic SNV Missense 3-5 10439971, 11502829, 23079138, 16636593, 24926462, 12727977, 34806794 7 Other Musculoskeletal Abnormalities, Lower Limb Deformities 1736 g.22219071G>T Exon 17
572 c.1738C>G p.His580Asp Likely Pathogenic 4/28/2021 - SNV Missense < 3 34806794 1 Lower Limb Deformities 1738 g.22219073C>G Exon 17
573 c.1739A>C p.His580Pro - 4/28/2021 Likely Pathogenic SNV Missense < 3 22101457, 29460029, 34806794 3 - 1739 g.22219074A>C Exon 17
574 c.1742A>T p.Glu581Val - 4/28/2021 Likely Pathogenic SNV Missense < 3 11468271, 11311133, 12727977, 34806794 4 - 1742 g.22219077A>T Exon 17
575 c.1751A>C p.His584Pro Uncertain Significance 4/28/2021 Likely Pathogenic SNV Missense 3-5 24836714, 34141703, 34806794 3 Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 1751 g.22219086A>C Exon 17
576 c.1757T>C p.Phe586Ser Pathogenic 2022-02-02 00:00:00 Likely Pathogenic SNV Missense 3-5 18625346, 34806794 2 Lower Limb Deformities 1757 g.22219092T>C Exon 17
577 c.1765_1768del p.Asn589Valfs*29 Pathogenic 4/28/2021 Pathogenic Small deletion Frameshift 3-5 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait abnormalities, Lower limb deformities, Tooth abscesses and/or excessive dental caries 1765 g.22219100_22219103del Exon 17
578 c.1768+1G>C p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice donor 3-5 18625346, 16636593, 34806794 3 - 1768 g.22219104G>C Intron 17
579 c.1768+1del Splice donor Likely Pathogenic 4/28/2021 - Splicing Splice donor < 3 34806794 1 - 1768 g.22219104del Intron 17
580 c.1768+3_1768+4insT p.? - 4/28/2021 Uncertain Significance Splicing Intronic < 3 15057978, 34806794 2 - 1768 g.22219106_22219107insT Intron 17
581 c.1768+2dup p.? Pathogenic 2022-02-02 00:00:00 Pathogenic Splicing Splice donor < 3 19219621, 34806794 2 - 1768 g.22219105dup Intron 17
583 c.1768+4_1768+7del Intronic Uncertain Significance 4/28/2021 - Splicing Intronic < 3 34806794 1 - 1768 g.22219107_22219110del Intron 17
584 c.1768+2del Splice donor Pathogenic 4/28/2021 - Splicing Splice donor < 3 34806794 1 - 1768 g.22219105del Intron 17
585 c.1768+1G>A p.? - 4/28/2021 Pathogenic Splicing Splice donor 3-5 10439971, 16636593, 28383812, 34806794 4 Lower Limb Deformities 1768 g.22219104G>A Intron 17
586 c.1768+2T>G p.? - 4/28/2021 Pathogenic Splicing Splice donor 3-5 24836714, 31102713, 32257293, 33666701, 34141703, 34806794 6 Bone and/or Joint Pain and/or Joint Stiffness, Short Stature, Lower Limb Deformities 1768 g.22219105T>G Intron 17
587 c.1768+177_1768+180dup p.? - 4/28/2021 Uncertain Significance Splicing Intronic < 3 24926462, 21902834, 34806794 3 Short Stature, Other Musculoskeletal Abnormalities 1768 g.22219280_22219283dup Intron 17
588 c.1768+5G>A p.? Pathogenic 4/28/2021 Pathogenic Splicing Intronic 6-10 15057978, 24926462, 18162710, 31102713, 23079138, 34806794 6 Gait Abnormalities, Lower limb deformities, Lower Limb Deformities 1768 g.22219108G>A Intron 17
589 c.1769-1G>C p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice acceptor 3-5 21050253, 31102713, 34806794 3 Gait abnormalities, Lower limb deformities, Short Stature 1769 g.22221612G>C Intron 17
590 c.1769-?_2070+?dup Gain (Exons 18-20) Likely Pathogenic 4/28/2021 - CNV Duplication < 3 34806794 1 - 1769 g.22221615_22227613dup Intron 17
591 c.1769-1G>A p.Gly590Glufs*28 - 4/28/2021 Pathogenic Splicing Splice acceptor, Frameshift < 3 30599486, 26559751, 34806794 3 Other Musculoskeletal Abnormalities, Short Stature, Lower Limb Deformities, Bone Density Abnormalities 1769 g.22221612G>A Intron 17, exons 17-18
592 c.1775_1778dup p.Tyr593* - 4/28/2021 Pathogenic Small duplication Nonsense < 3 29460029, 34806794 2 - 1775 g.22221619_22221622dup Exon 18
593 c.1779T>A p.Tyr593* - 4/28/2021 Pathogenic SNV Nonsense < 3 19219621, 32253725, 34806794 3 Other Musculoskeletal Abnormalities, Lower Limb Deformities, abnormal bone development, bowed or bent leg, short stature 1779 g.22221623T>A Exon 18
594 c.1779_1782dup p.Lys595* Pathogenic 4/28/2021 Pathogenic Small duplication Nonsense 3-5 32329911, 19219621, 34806794 3 bowed or bent legs 1779 g.22221623_22221626dup Exon 18
595 c.1779T>G p.Tyr593* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 - 1779 g.22221623T>G Exon 18
597 c.1783_1784insTGAT p.Lys595Metfs*13 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 16636593, 23813354, 9199930, 34806794 4 - 1783 g.22221627_22221628insTGAT Exon 18
598 c.1787dup p.Asn596Lysfs*11 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 16636593, 34806794 2 - 1787 g.22221631_22221632dup Exon 18
599 c.1789G>T p.Gly597* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 - 1789 g.22221633G>T Exon 18
600 c.1800dup p.Pro601Serfs*6 Pathogenic 4/28/2021 - Small duplication Frameshift 3-5 34806794 1 - 1800 g.22221644_22221645dup Exon 18
602 c.1802del p.Pro601Leufs*18 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 16636593, 34806794 2 - 1802 g.22221646_22221647del Exon 18
603 c.1805G>A p.Trp602* Pathogenic 4/28/2021 Pathogenic SNV Nonsense < 3 25983897, 34806794 2 Short Stature, Fractures/Pseudo-Fractures, Lower Limb Deformities, Kidney Disease, Thyroid, Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries 1805 g.22221649G>A Exon 18
604 c.1806del p.Trp602Cysfs*17 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 1806 g.22221651_22221652del Exon 18
605 c.1806dup p.Trp603Valfs*4 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 - 1806 g.22221651_22221652dup Exon 18
606 c.1806G>A p.Trp602* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 6-10 19513579, 28383812, 19219621, 34141703, 34806794 5 Short Stature, Other Musculoskeletal Abnormalities, Lower Limb Deformities 1806 g.22221650G>A Exon 18
607 c.1809G>A p.Trp603* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 6-10 23813354, 21293852, 18046499, 19513579, 24857004, 34806794 6 Gait abnormalities, Lower limb deformities, Short Stature 1809 g.22221653G>A Exon 18
608 c.1809_1816del p.Trp603* - 4/28/2021 Pathogenic Small deletion Nonsense < 3 18625346, 16636593, 34806794 3 - 1809 g.22221653_22221660del Exon 18
609 c.1818_1821dup p.Glu608Ilefs*6 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 Gait Abnormalities, Lower Limb Deformities 1818 g.22221662_22221665dup Exon 18
610 c.1825_1828dup p.Lys610Argfs*4 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 32329911, 34806794 2 - 1825 g.22221669_22221672dup Exon 18
611 c.1825G>T p.Glu609* - 4/28/2021 Pathogenic SNV Nonsense < 3 21902834, 24926462, 23079138, 21293852, 34806794 5 Short Stature, Other Musculoskeletal Abnormalities 1825 g.22221669G>T Exon 18
612 c.1826_1830del p.Glu609Valfs*2 - 4/28/2021 Pathogenic Small deletion Frameshift 3-5 16636593, 24926462, 23079138, 21293852, 24857004, 34806794 6 Tooth Abscesses and/or Excessive Dental Caries, Short Stature, Lower Limb Deformities 1826 g.22221670_22221674del Exon 18
613 c.1828_1829dup p.Phe611Serfs*9 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 - 1828 g.22221672_22221673dup Exon 18
614 c.1828_1832dup p.Phe611Leufs*10 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 Reduced_TmP/GFR_(<LLN), Reduced Serum Phosphate, Gait abnormalities, Lower limb deformities, Tooth abscesses and/or excessive dental caries 1828 g.22221672_22221676dup Exon 18
615 c.1830del p.Lys610Asnfs*9 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 22101457, 29460029, 34806794 3 - 1830 g.22221674_22221675del Exon 18
616 c.1832_1833del p.Phe611* - 4/28/2021 Pathogenic Small deletion Nonsense < 3 9199930, 16636593, 34806794 3 - 1832 g.22221676_22221677del Exon 18
617 c.1843del p.Thr615Glnfs*4 Pathogenic 4/28/2021 Pathogenic Small deletion Frameshift 3-5 23813354, 21293852, 24857004, 34806794 4 Lower limb deformities 1843 g.22221687del Exon 18
618 c.1843dup p.Thr615Asnfs*6 Pathogenic 4/28/2021 Pathogenic Small insertion Frameshift 6-10 19219621, 27840894, 34141703, 34806794 4 short stature, teeth falling out, deformities of the long bones, difficulty walking 1843 g.22221687dup Exon 18
620 c.1844_1847dup p.Lys616Asnfs*6 Pathogenic 4/28/2021 Pathogenic Small insertion Frameshift < 3 21050253, 32253725, 34806794 3 abnormal bone development, bowed or bent leg 1847 g.22221688_22221691dup Exon 18
622 c.1847_1848del p.Lys616Metfs*4 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 Lower Limb Deformities 1847 g.22221691_22221692del Exon 18
623 c.1848del p.Lys616Asnfs*3 Pathogenic 4/28/2021 Pathogenic Small deletion Frameshift 11-20 18625346, 20157195, 34806794 3 - 1848 g.22221692_22221693del Exon 18
624 c.1848dup p.Cys617Metfs*4 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 16636593, 34806794 2 - 1848 g.22221692_22221693dup Exon 18
625 c.1850G>T p.Cys617Phe Uncertain Significance 4/28/2021 - SNV Missense 3-5 34806794 1 Gait Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities 1850 g.22221694G>T Exon 18
626 c.1854_1857dup p.Asn620Aspfs*2 Pathogenic 4/28/2021 Pathogenic Small duplication Frameshift < 3 19219621, 34806794 2 - 1854 g.22221698_22221701dup Exon 18
628 c.1861C>T p.Gln621* - 4/28/2021 Pathogenic SNV Nonsense < 3 22101457, 22913777, 24857004, 34806794 4 - 1861 g.22221705C>T Exon 18
629 c.1862A>G p.Gln621Arg - 4/28/2021 Likely Pathogenic SNV Missense < 3 9768674, 16636593, 21604088, 34806794 4 - 1862 g.22221706A>G Exon 18
630 c.1859_1862dup p.Tyr622Profs*3 Pathogenic 4/28/2021 Pathogenic Small insertion Frameshift < 3 26051471, 34806794 2 - 1862 g.22221703_22221706dup Exon 18
631 c.1874_1875dup p.Tyr626Ilefs*8 - 4/28/2021 Pathogenic Small duplication Frameshift < 3 29460029, 34806794 2 - 1874 g.22221718_22221719dup Exon 18
632 c.1875T>G p.Tyr625* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 - 1875 g.22221719T>G Exon 18
633 c.1880G>A p.Trp627* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries 1880 g.22221724G>A Exon 18
634 c.1881G>A p.Trp627* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 3-5 16636593, 15057978, 34806794 3 - 1881 g.22221725G>A Exon 18
635 c.? p.Trp627* - 4/28/2021 Pathogenic SNV Nonsense 3-5 19242361, 27221261, 34806794 3 radiological signs of rickets, bowed or bent legs, waddling gait, fraying of the distal metaphyseal line of both femurs and tibiae, nephrocalcinosis 1881 g.22221725 Exon 18
636 c.1899+3G>C Intronic Uncertain Significance 4/28/2021 - Splicing Intronic < 3 34806794 1 Fractures/Pseudo-Fractures, Lower Limb Deformities 1899 g.22221746G>C Intron 18
637 c.1899+2T>A p.? - 4/28/2021 Pathogenic Splicing Splice donor < 3 31102713, 21293852, 24857004, 34806794 4 - 1899 g.22221745T>A Intron 18
638 c.1899+1G>A p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice donor 3-5 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait abnormalities, Lower limb deformities 1899 g.22221744G>A Intron 18
639 c.1899+1G>T p.? - 4/28/2021 Pathogenic Splicing Splice donor < 3 21050253, 31102713, 34806794 3 - 1899 g.22221744G>T Intron 18
640 c.1899+5G>A p.? - 4/28/2021 Pathogenic Splicing Intronic < 3 31102713, 19219621, 34806794 3 Other Musculoskeletal Abnormalities, Lower Limb Deformities 1899 g.22221748G>A Intron 18
641 c.1900-?_*3357+?del Deletion (Exons 19-22) - 4/28/2021 Uncertain Significance CNV Deletion < 3 16636593, 9199930, 34806794 3 - 1900 g.22226444_22251311del Exons 19-22
642 c.1900-1G>A p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice acceptor < 3 16261449, 34806794 2 Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate 1900 g.22226442G>A Intron 18
643 c.1900-?_2070+?del Deletion (Exons 19-20) Pathogenic 4/28/2021 - CNV Deletion 3-5 34141703, 34806794 2 - 1900 g.22226445_22227613del Intron 18
644 c.1919T>C p.Leu640Pro Pathogenic 4/28/2021 Likely Pathogenic SNV Missense 3-5 19219621, 33666701, 34806794 3 Other Musculoskeletal Abnormalities, Lower Limb Deformities 1919 g.22226462T>C Exon 19
646 c.1927_1930dup p.Ile644Lysfs*4 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 1927 g.22226470_22226473dup Exon 19
647 c.1929del p.Asn643Lysfs*19 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 16636593, 34806794 2 - 1929 g.22226473_22226474del Exon 19
648 c.1933G>A p.Ala645Thr Likely Pathogenic 2022-02-02 00:00:00 - SNV Missense < 3 34806794 1 - 1933 g.22226476G>A Exon 19
649 c.1935_1938dup p.Asn647* Pathogenic 4/28/2021 - Small duplication Nonsense 6-10 34806794 1 Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Fractures/Pseudo-Fractures 1935 g.22226478_22226481dup Exon 19
650 c.1936G>A p.Asp646Asn - 4/28/2021 Likely Pathogenic SNV Missense 3-5 21050253, 34806794 2 Skull Deformities, Short Stature 1936 g.22226479G>A Exon 19
651 c.1936_1939dup p.Asn647Argfs*2 Pathogenic 4/28/2021 Pathogenic Small duplication Frameshift < 3 16636593, 11502829, 34806794 3 - 1936 g.22226479_22226482dup Exon 19
652 c.1936_1938del p.Asp646del - 4/28/2021 Likely Pathogenic Small deletion Deletion < 3 24926462, 23079138, 21902834, 34806794 4 Short Stature, Other Musculoskeletal Abnormalities 1936 g.22226479_22226481del Exon 19
653 c.1936G>C p.Asp646His Likely Pathogenic 4/28/2021 - SNV Missense < 3 34806794 1 Gait abnormalities 1936 g.22226479G>C Exon 19
654 c.1936G>T p.Asp646Tyr Uncertain Significance 4/28/2021 - SNV Missense < 3 34806794 1 - 1936 g.22226479G>T Exon 19
657 c.1942G>C p.Gly648Arg Uncertain Significance 4/28/2021 - SNV Missense < 3 34806794 1 - 1942 g.22226485G>C Exon 19
658 c.1942G>A p.Gly648Arg Uncertain Significance 4/28/2021 - SNV Missense < 3 34806794 1 - 1942 g.22226485G>A Exon 19
659 c.1942G>T p.Gly648* - 4/28/2021 Pathogenic SNV Nonsense < 3 26051471, 34806794 2 Skull Deformities, Other Musculoskeletal Abnormalities, Lower Limb Deformities 1942 g.22226485G>T Exon 19
660 c.1946G>A p.Gly649Asp - 4/28/2021 Likely Pathogenic SNV Missense 3-5 22577109, 23312231, 34806794 3 - 1946 g.22226489G>A Exon 19
661 c.1954_1965del p.Glu652_Arg655del - 4/28/2021 Likely Pathogenic Small deletion Deletion < 3 16636593, 18162710, 16055933, 34806794 4 - 1954 g.22226498_22226509del Exon 19
662 c.1952G>C p.Arg651Pro - 4/28/2021 Pathogenic SNV Missense 6-10 10439971, 9199930, 32329911, 23079138, 16636593, 24926462, 21902834, 33639975, 25894638, 10874297, 21553362, 34806794 12 Other Musculoskeletal Abnormalities, genu varum, bowed or bent leg, coxa vara, arthritis, hip dysplasia 1952 g.22226495G>C Exon 19
663 c.1956_1957insGCTTGGGAA p.Ala653_Phe654insTrpGluAla - 4/28/2021 Likely Pathogenic Small insertion Insertion < 3 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 1956 g.22226495_22226503dup Exon 19
664 c.1958C>A p.Ala653Asp Uncertain Significance 4/28/2021 Likely Pathogenic SNV Missense 3-5 22101457, 29460029, 33049132, 34806794 4 - 1958 g.22226501C>A Exon 19
665 c.1960T>A p.Phe654Ile Likely Pathogenic 2022-02-02 00:00:00 - SNV Missense < 3 34806794 1 - 1960 g.22226503T>A Exon 19
666 c.1961_1963delTTAins p.Phe654Serfs*8 Pathogenic 4/28/2021 - Small insertion Deletion/Insertion < 3 34806794 1 - 1961 g.22226504_22226506del Exon 19
667 c.1965+1G>T p.? - 4/28/2021 Pathogenic Splicing Splice donor < 3 25115781, 34806794 2 Short Stature, Lower Limb Deformities 1965 g.22226509G>T Intron 19
668 c.1965+1G>A p.? - 4/28/2021 Pathogenic Splicing Splice donor 6-10 10439971, 29460029, 9097956, 16636593, 24926462, 18162710, 21902834, 30599486, 19219621, 23079138, 34806794 11 Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities 1965 g.22226509G>A Intron 19
669 c.1966_1969dup p.Tyr657Cysfs*8 Pathogenic 4/28/2021 Pathogenic Small duplication Frameshift < 3 34806794 1 - 1966 g.22227507_22227510dup Exon 20
670 c.1966-1G>C Splice acceptor Pathogenic 4/28/2021 Pathogenic Splicing Splice acceptor 3-5 34141703, 34806794 2 - 1966 g.22227506G>C Intron 19
671 c.1967_2025del p.Ala656Aspfs*41 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 25086671, 21050253, 34806794 3 - 1967 g.22227508_22227566del Exon 20
672 c.1967_?del p.Asp657_?del - 4/28/2021 Uncertain Significance Small deletion Deletion 3-5 30607568, 33639975, 34806794 3 radiological signs of rickets, short stature, abnormal bone development 1967 g.22227508_22227509del Exon 20
673 c.1970A>G p.Tyr657Cys - 4/28/2021 Pathogenic SNV Missense < 3 29707405, 19219621, 34806794 3 Other Musculoskeletal Abnormalities, abnormal bone development, short stature, Lower Limb Deformities 1970 g.22227511A>G Exon 20
674 c.1973_1984dup p.Arg658_Ile661dup Uncertain Significance 4/28/2021 - Small duplication Insertion < 3 34806794 1 Lower Limb Deformities 1973 g.22227514_22227525dup Exon 20
675 c.1978_1988del p.Trp660Glnfs*6 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 29460029, 34806794 2 - 1978 g.22227519_22227529del Exon 20
676 c.1979G>A p.Trp660* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 6-10 16636593, 9199930, 29707405, 34141703, 34806794 5 - 1979 g.22227520G>A Exon 20
677 c.1980G>A p.Trp660* - 4/28/2021 Pathogenic SNV Nonsense < 3 24836714, 34806794 2 Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 1980 g.22227521G>A Exon 20
678 c.1989_1990del p.Asp663Glufs*6 Pathogenic 4/28/2021 Pathogenic Small deletion Frameshift < 3 10439971, 19219621, 34806794 3 Other Musculoskeletal Abnormalities, Lower Limb Deformities 1989 g.22227530_22227531del Exon 20
680 c.1991_1992insTGAC p.Arg664Serfs*7 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 24926462, 23079138, 15057978, 9199930, 16636593, 34806794 6 - 1991 g.22227532_22227533insTGAC Exon 20
681 c.1993del p.Arg665Glyfs*22 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 16636593, 11502829, 34806794 3 Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 1993 g.22227534_22227535del Exon 20
682 c.1996_2008del p.Gln666Serfs*17 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 16636593, 18162710, 16055933, 34806794 4 - 1996 g.22227537_22227549del Exon 20
683 c.1999G>T p.Gly667* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 - 1999 g.22227540G>T Exon 20
684 c.2000del p.Gly667Aspfs*20 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries 2000 g.22227541_22227542del Exon 20
685 c.2004_2018del p.Glu669_Leu673del Uncertain Significance 4/28/2021 - Small deletion Deletion < 3 34806794 1 - 2004 g.22227545_22227559del Exon 20
686 c.2008del p.Glu670Serfs*17 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 22695891, 34806794 2 - 2008 g.22227550_22227551del Exon 20
687 c.2008G>A p.Glu670Lys Uncertain Significance 4/28/2021 - SNV Missense < 3 34806794 1 - 2008 g.22227549G>A Exon 20
688 c.2009A>T p.Glu670Val Uncertain Significance 4/28/2021 - SNV Missense < 3 34806794 1 - 2009 g.22227550A>T Exon 20
689 c.2012del p.Pro671Leufs*16 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 2012 g.22227555_22227556del Exon 20
690 c.2018T>G p.Leu673Arg Pathogenic 2022-02-02 00:00:00 Likely Pathogenic SNV Missense 3-5 29460029, 34806794 2 Lower limb deformities 2018 g.22227559T>G Exon 20
691 c.2018_2036del p.Leu673Profs*8 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 2018 g.22227559_22227577del Exon 20
692 c.2021del p.Pro674Glnfs*13 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 2021 g.22227562_22227563del Exon 20
693 c.2022del p.Gly675Alafs*12 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 2022 g.22227563_22227564del Exon 20
694 c.2028_2032dup p.Phe678Serfs*11 Pathogenic 4/28/2021 - Small duplication Frameshift 3-5 34806794 1 Lower Limb Deformities 2028 g.22227569_22227573dup Exon 20
695 c.2030_2031dup p.Phe678Hisfs*10 Pathogenic 4/28/2021 Pathogenic Small duplication Frameshift < 3 20157195, 34806794 2 - 2030 g.22227571_22227572dup Exon 20
696 c.2033dup p.Thr679Hisfs*38 - 4/28/2021 Pathogenic Small insertion Frameshift 3-5 23813354, 22713460, 24857004, 34141703, 34806794 5 - 2033 g.22227574dup Exon 20
697 c.2040C>A p.Asn680Lys Uncertain Significance 4/28/2021 Uncertain Significance SNV Missense < 3 16636593, 34806794 2 Gait Abnormalities, Lower Limb Deformities 2040 g.22227581C>A Exon 20
698 c.2040C>G p.Asn680Lys Uncertain Significance 4/28/2021 - SNV Missense < 3 34806794 1 - 2040 g.22227581C>G Exon 20
699 c.2040_2041del p.Asn680Lysfs*36 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 2040 g.22227581_22227582del Exon 20
701 c.2044C>T p.Gln682* - 4/28/2021 Pathogenic SNV Nonsense < 3 15057978, 34806794 2 - 2044 g.22227585C>T Exon 20
702 c.2048T>C p.Leu683Pro - 4/28/2021 Likely Pathogenic SNV Missense 3-5 24229582, 24857004, 34806794 3 Short Stature, Lower Limb Deformities 2048 g.22227589T>C Exon 20
703 c.2051T>G p.Phe684Cys - 4/28/2021 Likely Pathogenic SNV Missense < 3 22577109, 34806794 2 - 2051 g.22227592T>G Exon 20
704 c.2053_2055del p.Phe685del Uncertain Significance 4/28/2021 - Small deletion Deletion < 3 34806794 1 Lower limb deformities 2053 g.22227594_22227596del Exon 20
705 c.2061?ins Frameshift - 4/28/2021 Pathogenic Small insertion Frameshift < 3 9768674, 34806794 2 - 2061 g.22227602_22227603insA Exon 20
706 c.2057T>A p.Leu686Gln - 4/28/2021 Likely Pathogenic SNV Missense < 3 33049132, 34806794 2 - 2057 g.22227598T>A Exon 20
707 c.2057T>C p.Leu686Pro Uncertain Significance 4/28/2021 - SNV Missense < 3 34806794 1 Fractures/Pseudo-Fractures, Lower Limb Deformities 2057 g.22227598T>C Exon 20
708 c.2060_2063dup p.Tyr688* Pathogenic 4/28/2021 Conflict Small insertion Nonsense 6-10 19219621, 33666701, 34806794 3 - 2063 g.22227601_22227604dup Exon 20
709 c.2061T>G p.Ser687Arg Likely Pathogenic 4/28/2021 - SNV Missense < 3 34806794 1 - 2061 g.22227602T>G Exon 20
710 c.2063_2070+2del - Pathogenic 4/28/2021 - Splicing Splice donor < 3 34806794 1 - 2063 g.22227604_22227613del Exon 20
712 c.2064T>A p.Tyr688* Pathogenic 4/28/2021 Conflict SNV Nonsense 3-5 10439971, 23079138, 16636593, 24926462, 34806794 5 Other Musculoskeletal Abnormalities, Bone and/or joint pain and/or joint stiffness 2064 g.22227605T>A Exon 20
713 c.2065G>C p.Ala689Pro Uncertain Significance 4/28/2021 - SNV Missense < 3 34806794 1 Gait Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities 2065 g.22227606G>C Exon 20
714 c.2066C>T p.Ala689Val - 4/28/2021 Likely Pathogenic SNV Missense < 3 26561226, 34806794 2 Other Musculoskeletal Abnormalities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Nervous System 2066 g.22227607C>T Exon 20
715 c.2066C>A p.Ala689Asp - 4/28/2021 Likely Pathogenic SNV Missense < 3 22101457, 29460029, 34806794 3 - 2066 g.22227607C>A Exon 20
716 c.2070+1G>T Splice donor Likely Pathogenic 4/28/2021 - Splicing Splice donor < 3 34806794 1 - 2070 g.22227612G>T Intron 20
717 c.2070+5G>C Intronic Pathogenic 2022-02-02 00:00:00 - Splicing Splice donor 3-5 34806794 1 Gait abnormalities, Lower limb deformities, Short Stature 2070 g.22227616G>C Intron 20
718 c.2070+1G>A Splice donor Pathogenic 4/28/2021 - Splicing Splice donor 3-5 34806794 1 - 2070 g.22227612G>A Intron 20
720 c.2071-?_*3357+?del Deletion (Exons 21-22) Pathogenic 4/28/2021 - CNV Deletion 6-10 32253725, 34141703, 34806794 3 Reduced Serum Phosphate, Gait Abnormalities, Gait abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities, abnormal bone development, pectus carinatum, bowed or bent leg 2071 g.22245334_22251311del Intron 20
721 c.2071A>C - - 4/28/2021 Pathogenic Splicing Unknown < 3 10439971, 34806794 2 - 2071 g.22245333G>C Exon 21
722 c.2071-2A>C p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice acceptor 3-5 10439971, 19219621, 34141703, 34806794 4 abnormal bone development, Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Short Stature 2071 g.22245331A>C Intron 20
723 c.2071-1G>A p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice acceptor 3-5 12414858, 16636593, 15057978, 34806794 4 Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 2071 g.22245332G>A Intron 20
724 c.2071-2A>G p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice acceptor 6-10 16261449, 12414858, 22695891, 16636593, 22577109, 34806794 6 Gait Abnormalities, Lower Limb Deformities 2071 g.22245331A>G Intron 20
725 c.2071-?_2147+?del Deletion (Exon 21) Pathogenic 4/28/2021 - CNV Deletion < 3 34806794 1 Tooth abscesses and/or excessive dental caries, Reduced Serum Phosphate 2071 g.22245335_22245411del Intron 20
726 c.2071-1G>T p.? - 4/28/2021 Pathogenic Splicing Splice acceptor < 3 24229582, 22913777, 34806794 3 Lower Limb Deformities 2071 g.22245332G>T Intron 20
728 c.2074_2082del p.Arg692_Asn694del - 4/28/2021 Pathogenic Small insertion Unknown < 3 9768674, 34806794 2 - 2074 g.22245336_22245344del Exon 21
729 c.2077_*4delinsA p.Trp693delins - 4/28/2021 Likely Pathogenic Small insertion Deletion/Insertion < 3 24836714, 34806794 2 Nervous System, Lower Limb Deformities 2077 g.22245339_22247957del Exons 21-22
730 c.2077T>A p.Cys693Ser Likely Pathogenic 4/28/2021 - SNV Missense < 3 34806794 1 Tooth Abscesses and/or Excessive Dental Caries 2077 g.22245339T>A Exon 21
731 c.2077T>C p.Cys693Arg Likely Pathogenic 4/28/2021 - SNV Missense 3-5 34806794 1 - 2077 g.22245339T>C Exon 21
732 c.2078G>T p.Cys693Phe - 4/28/2021 Pathogenic SNV Missense < 3 24926462, 23079138, 34806794 3 Lower Limb Deformities 2078 g.22245340G>T Exon 21
733 c.2078G>A p.Cys693Tyr Pathogenic 4/28/2021 Likely Pathogenic SNV Missense 3-5 23079138, 30682568, 16636593, 24229582, 24857004, 34806794 6 Short Stature, Lower Limb Deformities 2078 g.22245340G>A Exon 21
734 c.2083del p.Ser695Profs*45 Likely Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 2083 g.22245345del Exon 21
735 c.2085del p.Tyr696Thrfs*44 Likely Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 2085 g.22245347del Exon 21
736 c.2090_2091del p.Arg697Thrfs*19 - 4/28/2021 Pathogenic Small deletion Frameshift 3-5 16636593, 23813354, 23079138, 24857004, 24926462, 34806794 6 - 2090 g.22245352_22245353del Exon 21
738 c.2089_2092dup p.Pro698Glnfs*20 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 2089 g.22245351_22245354dup Exon 21
739 c.2093del p.Pro698Glnfs*42 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 16636593, 9199930, 32329911, 34806794 4 - 2093 g.22245355_22245356del Exon 21
740 c.2095G>T p.Glu699* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 - 2095 g.22245357G>T Exon 21
741 c.2099del p.Ala700Valfs*40 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 26287655, 16636593, 9768674, 34806794 4 - 2099 g.22245361del Exon 21
742 c.2100del p.Ala701Profs*39 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 Fractures/Pseudo-Fractures, Lower Limb Deformities 2100 g.22245362_22245363del Exon 21
743 c.2104C>T p.Arg702* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 30+ 26377240, 11502829, 21994957, 9768674, 23079138, 15057978, 9097956, 16636593, 24926462, 25894638, 33107440, 19219621, 21902834, 29505567, 10874297, 32253725, 34141703, 34806794 18 abnormal bone development, pectus carinatum, bowed or bent leg, short stature, Other Musculoskeletal Abnormalities, Short Stature, Lower Limb Deformities, Fractures/Pseudo-Fractures, Gait Abnormalities, Reduced Serum Phosphate, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities, Fractures/pseudo-fractures, abnormal bone development, pectus carinatum, bowed or bent leg, short stature 2104 g.22245366C>T Exon 21
744 c.2104del p.Arg702Glufs*38 - 4/28/2021 Pathogenic Small deletion Frameshift 3-5 16636593, 11502829, 34806794 3 Lower Limb Deformities 2104 g.22245366_22245367del Exon 21
745 c.2110C>T p.Gln704* - 4/28/2021 Pathogenic SNV Nonsense < 3 34806794 1 - 2110 g.22245372C>T Exon 21
746 c.2118_2119del p.Gln706Hisfs*10 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 Lower limb deformities 2118 g.22245380_22245381del Exon 21
747 c.2133T>A p.Ser711Arg - 4/28/2021 Pathogenic SNV Missense 3-5 11468271, 16636593, 12727977, 25894638, 18046499, 15470265, 12111239, 34806794 8 - 2133 g.22245395T>A Exon 21
748 c.2137_2143delinsAA p.Pro713Asnfs*2 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 16636593, 9768674, 34806794 3 - 2137 g.22245399_22245405del Exon 21
749 c.2138dup p.Gln714Serfs*3 Pathogenic 4/28/2021 Pathogenic Small duplication Frameshift 3-5 32329911, 19219621, 34806794 3 bowed or bent legs 2138 g.22245401_22245402dup Exon 21
750 c.2139_2140dup p.Gln714Leufs*27 - 4/28/2021 Pathogenic Small duplication Frameshift < 3 24926462, 23079138, 21902834, 34806794 4 Short Stature, Other Musculoskeletal Abnormalities 2139 g.22245401_22245402dup Exon 21
751 c.2138del p.Pro713Leufs*27 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 2138 g.22245401_22245402del Exon 21
753 c.2140del p.Gln714Serfs*26 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 2140 g.22245402_22245403del Exon 21
754 c.2140C>T p.Gln714* - 4/28/2021 Pathogenic SNV Nonsense 3-5 16261449, 32329911, 34806794 3 bone pain, bowed or bent legs 2140 g.22245402C>T Exon 21
755 c.2147+1G>A Splice donor Pathogenic 4/28/2021 - Splicing Splice donor 3-5 34806794 1 Gait abnormalities, Lower limb deformities 2147 g.22245410G>A Intron 21
756 c.2147+2T>A p.? - 4/28/2021 Pathogenic Splicing Splice donor < 3 26051471, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 2147 g.22245411T>A Intron 21
757 c.2147+2_2147+9del Splice donor Pathogenic 4/28/2021 Pathogenic Small deletion Splice donor 3-5 34141703, 34806794 2 - 2147 g.22245411_22245418del Intron 21
758 c.2147G>C p.Arg716Thr Uncertain Significance 4/28/2021 - Splicing Intronic < 3 34806794 1 Lower Limb Deformities 2147 g.22245409G>C Exon 21
759 c.2148-10C>A Intronic Uncertain Significance 4/28/2021 Likely Pathogenic Splicing Intronic < 3 32253725, 34806794 2 abnormal bone development, pectus carinatum, bowed or bent leg 2148 g.22247841C>A Intron 21
760 c.2148-1G>T p.? - 4/28/2021 Pathogenic Splicing Splice acceptor < 3 22695891, 25031893, 19219621, 34806794 4 - 2148 g.22247850G>T Intron 21
761 c.2149del p.Val717Serfs*23 Pathogenic 4/28/2021 Pathogenic Small deletion Frameshift < 3 16636593, 10439971, 34806794 3 Other Musculoskeletal Abnormalities 2149 g.22247852del Exon 22
762 c.2148-?_*3357+?del Deletion (Exon 22) Pathogenic 4/28/2021 - CNV Deletion < 3 34806794 1 - 2148 g.22247853_22251312del Intron 21
764 c.2148-1G>C Splice acceptor Pathogenic 4/28/2021 - Splicing Splice acceptor < 3 34806794 1 - 2148 g.22247850G>C Intron 21
765 c.2148-3C>G Intronic Uncertain Significance 4/28/2021 - Splicing Intronic < 3 34806794 1 - 2148 g.22247848C>G Intron 21
766 c.2148-2A>G p.? - 4/28/2021 Pathogenic Splicing Splice acceptor < 3 22101457, 34806794 2 - 2148 g.22247849A>G Intron 21
767 c.2149G>T p.Val717Phe Likely Pathogenic 2022-02-02 00:00:00 - SNV Missense 3-5 34806794 1 - 2149 g.22247852G>T Exon 22
768 c.2150_2151insTG p.Asn718Alafs*23 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 26051471, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 2150 g.22247853_22247854insTG Exon 22
769 c.2150T>A p.Val717Asp - 4/28/2021 Likely Pathogenic SNV Missense < 3 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 2150 g.22247853T>A Exon 22
770 c.2155G>T p.Gly719Cys - 4/28/2021 Likely Pathogenic SNV Missense < 3 19219621, 32253725, 34806794 3 Other Musculoskeletal Abnormalities, Lower Limb Deformities, abnormal bone development, bowed or bent leg 2155 g.22247858G>T Exon 22
771 c.2155G>A p.Gly719Ser - 4/28/2021 Likely Pathogenic SNV Missense < 3 24229582, 24857004, 34806794 3 Short Stature, Lower Limb Deformities 2155 g.22247858G>A Exon 22
772 c.2156del p.Gly719Valfs*21 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 23813354, 34806794 2 - 2156 g.22247859del Exon 22
773 c.2158G>T p.Ala720Ser - 4/28/2021 Pathogenic SNV Missense < 3 28982589, 32511895, 34806794 3 Bone and/or Joint Pain and/or Joint Stiffness, Tooth Abscesses and/or Excessive Dental Caries 2158 g.22247861G>T Exon 22
774 c.2158G>A p.Ala720Thr - 4/28/2021 Pathogenic SNV Missense 11-20 9768674, 16636593, 12727977, 25042154, 23813354, 32511895, 28982589, 18046499, 21604088, 10439971, 34806794 11 - 2158 g.22247861G>A Exon 22
775 c.2159C>A p.Ala720Glu Pathogenic 4/28/2021 - SNV Missense 3-5 34806794 1 - 2159 g.22247862C>A Exon 22
776 c.2160_2175del p.Ile721Asnfs*14 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 2160 g.22247863_22247878del Exon 22
777 c.2162_2163insCCCT p.Ser722Profs*2 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 10439971, 23079138, 24926462, 34806794 4 Other Musculoskeletal Abnormalities 2162 g.22247865_22247866insCCCT Exon 22
778 c.2164del p.Ser722Valfs*18 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 2164 g.22247867_22247868del Exon 22
779 c.2166_2199delins Frameshift - 4/28/2021 Pathogenic Small insertion Frameshift < 3 9768674, 34806794 2 - 2166 g.22247869_22247902del Exon 22
780 c.2165_2184dup p.Lys729Valfs*18 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 Gait Abnormalities, Lower Limb Deformities 2165 g.22247868_22247887dup Exon 22
781 c.2166delinsGG p.Ser722Argfs*4 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 30238432, 24594262, 34806794 3 Gait Abnormalities, Skull Deformities, Thyroid 2166 g.22247869delinsGG Exon 22
782 c.2168dup p.Asn723Lysfs*3 - 4/28/2021 Pathogenic Small duplication Frameshift < 3 24926462, 23079138, 21902834, 34806794 4 Short Stature, Other Musculoskeletal Abnormalities 2168 g.22247871_22247872dup Exon 22
783 c.2171_2172del p.Phe724* - 4/28/2021 Pathogenic Small deletion Nonsense < 3 23079138, 16055933, 16636593, 24926462, 18162710, 30599486, 32253725, 34806794 8 abnormal bone development, pectus carinatum, bowed or bent leg, short stature 2171 g.22247874_22247875del Exon 22
784 c.2171_2172insAACT p.Phe724Leufs*3 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 19219621, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 2171 g.22247874_22247875insAACT Exon 22
785 c.2172_*236del Partial Deletion (Exon 22) Pathogenic 4/28/2021 - CNV Untranslated region < 3 34806794 1 Gait Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities 2172 g.22247875_22248189del Exon 22
786 c.2182C>T p.Gln728* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 3-5 31474501, 15057978, 34806794 3 bowed or bent legs, Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities 2182 g.22247885C>T Exon 22
787 c.2189del p.Ala730Valfs*10 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 2189 g.22247892del Exon 22
788 c.2192T>C p.Phe731Ser - 4/28/2021 Likely Pathogenic SNV Missense 6-10 23813354, 22713460, 29901142, 24857004, 27840894, 34141703, 34806794 7 Tooth Abscesses and/or Excessive Dental Caries, Short Stature, Lower Limb Deformities, genu varum 2192 g.22247895T>C Exon 22
789 c.2192T>A p.Phe731Tyr - 4/28/2021 Likely Pathogenic SNV Missense < 3 9768674, 16636593, 12727977, 23813354, 32511895, 21604088, 22713460, 34806794 8 - 2192 g.22247895T>A Exon 22
790 c.2193del p.Phe731Leufs*9 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 2193 g.22247896_22247897del Exon 22
791 c.2193_2194insAlu p.Phe731fs Pathogenic 4/28/2021 - Alu insertion Frameshift < 3 34806794 1 - 2193 g.22247898dup Exon 22
792 c.2197T>C p.Cys733Arg Pathogenic 4/28/2021 Pathogenic SNV Missense 3-5 25839938, 22527485, 34806794, 16636593 4 Other Musculoskeletal Abnormalities, Bone and/or Joint Pain and/or Joint Stiffness, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries 2197 g.22247900T>C Exon 22
793 c.2198G>C p.Cys733Ser Uncertain Significance 4/28/2021 Likely Pathogenic SNV Missense 3-5 10439971, 23079138, 16636593, 24926462, 29610183, 34806794 6 Other Musculoskeletal Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities, Gait Abnormalities, Skull Deformities 2198 g.22247901G>C Exon 22
794 c.2198G>A p.Cys733Tyr Likely Pathogenic 4/28/2021 Likely Pathogenic SNV Missense 3-5 25839938, 21293852, 16636593, 30607568, 23813354, 24857004, 34806794 7 Other Musculoskeletal Abnormalities, Bone and/or Joint Pain and/or Joint Stiffness, Lower Limb Deformities, Fractures/Pseudo-Fractures, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries 2198 g.22247901G>A Exon 22
795 c.2198G>T p.Cys733Phe Uncertain Significance 4/28/2021 Likely Pathogenic SNV Missense 3-5 33639975, 30607568, 34806794 3 radiological signs of rickets, abnormal bone development 2198 g.22247901G>T Exon 22
797 c.2202del p.Asn736Ilefs*4 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 30792871, 34806794 2 Gait Abnormalities, Lower Limb Deformities 2202 g.22247905del Exon 22
798 c.2237G>A p.Cys746Tyr Pathogenic 4/28/2021 Likely Pathogenic SNV Missense 11-20 23813354, 24857004, 34806794 3 Short Stature, Fractures/Pseudo-Fractures, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries 2237 g.22247940G>A Exon 22
799 c.2238C>A p.Cys746* - 4/28/2021 Pathogenic SNV Nonsense 3-5 16636593, 11502829, 34806794 3 Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities 2238 g.22247941C>A Exon 22
800 c.2238C>G p.Cys746Trp - 4/28/2021 Likely Pathogenic SNV Missense < 3 10439971, 16636593, 24926462, 23079138, 30792871, 12001226, 34806794 7 Other Musculoskeletal Abnormalities 2238 g.22247941C>G Exon 22
801 c.2239del p.Arg747Aspfs*24 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 2239 g.22247942_22247943del Exon 22
802 c.2239C>T p.Arg747* Pathogenic 4/28/2021 Pathogenic SNV Nonsense 30+ 10439971, 25839938, 9199930, 23079138, 30607568, 21902834, 26051471, 9768674, 31903094, 15057978, 16055933, 10894185, 25894638, 33639975, 32329911, 11502829, 30682568, 22695891, 24926462, 19219621, 29505567, 21050253, 16636593, 9593714, 12001226, 10874297, 30792871, 30599486, 18162710, 34141703, 33666701, 32253725, 34806794 33 Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait Abnormalities, Fractures/Pseudo-Fractures, Tooth Abscesses and/or Excessive Dental Caries, abnormal bone development, pectus carinatum, bowed or bent leg, short stature 2239 g.22247942C>T Exon 22
804 c.2244_2245del p.Trp749Valfs*44 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 28383812, 34806794 2 Lower Limb Deformities 2244 g.22247947_22247948del Exon 22
805 c.2243T>G p.Leu748Arg - 4/28/2021 Pathogenic SNV Missense < 3 34806794 1 - 2243 g.22247946T>G Exon 22
806 c.2245T>C p.Trp749Arg Pathogenic 4/28/2021 Likely Pathogenic SNV Missense 3-5 9768674, 16636593, 32253725, 34806794 4 Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities, abnormal bone development, pectus carinatum, bowed or bent leg, short stature 2245 g.22247948T>C Exon 22
807 c.2245_2246insACTC p.Trp749Tyrfs*46 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 15057978, 34806794 2 - 2245 g.22247948_22247949insACTC Exon 22
808 c.2246G>C p.Trp749Ser Uncertain Significance 4/28/2021 Likely Pathogenic SNV Missense < 3 16636593, 34806794 2 - 2246 g.22247949G>C Exon 22
809 c.2249A>T p.*750Leuext*9 Likely Pathogenic 4/28/2021 Uncertain Significance SNV Extension < 3 21050253, 28383812, 34806794 3 - 2249 g.22247952A>T Exon 22
810 c.2250G>C p.*750Tyrext*9 Likely Pathogenic 4/28/2021 Uncertain Significance SNV Extension < 3 26051471, 34806794 2 Other Musculoskeletal Abnormalities, Lower Limb Deformities 2250 g.22247953G>C Exon 22
811 c.*58C>T p.? - 4/28/2021 Likely Benign SNV Untranslated region < 3 18625346, 34806794 2 - 2318 g.22248011C>T 3' UTR
812 c.*231A>G p.? Likely Pathogenic 4/28/2021 Uncertain Significance SNV Untranslated region 30+ 31242375, 31910300, 29417983, 31242373, 28982589, 25042154, 31242372, 18625346, 31242376, 31242374, 34806794 11 Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities 2491 g.22248184A>G 3' UTR
813 c.2130_2142dup p.Phe715Glnfs*6 - 4/28/2021 Pathogenic Small insertion Frameshift < 3 30607568, 34806794 2 - 2142 g.22245392_22245404dup Exon 21
814 c.-562-?_1586+?del Deletion (Exons 1-14) Pathogenic 4/28/2021 - CNV Deletion < 3 34806794 1 Gait abnormalities, Tooth abscesses and/or excessive dental caries, Reduced Serum Phosphate -562 g.22032445_22178377del 5' UTR
815 c.-562-?_1079+?del Deletion (Exon 1-9) - 4/28/2021 Likely Pathogenic CNV Deletion < 3 19513579, 34806794 2 - -562 g.22032445_22099152del Exon 1 - 9
816 c.118+2T>G p.? - 4/28/2021 Pathogenic Splicing Splice donor < 3 33639975, 34806794 2 - 118 g.22033125T>G Intron 1
817 c.188-?_1302+?dup Gain (Exons 3-11) Pathogenic 4/28/2021 - CNV Duplication < 3 34806794 1 - 188 g.22047050_22114586dup Intron 2
818 c.310del p.Tyr104Ilefs*4 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 32329911, 34806794 2 - 310 g.22047172del Exon 3
819 c.325_326dup p.Asn110Ilefs*7 - 4/28/2021 Pathogenic Small duplication Frameshift < 3 33295632, 34806794 2 - 325 g.22047187_22047188dup Exon 3
820 c.349+1G>A p.? - 4/28/2021 Pathogenic Splicing Splice donor < 3 16636593, 34806794 2 - 349 g.22047212G>A Intron 3
821 c.349+1G>T Splice donor Pathogenic 4/28/2021 - Splicing Splice donor < 3 34806794 1 Lower limb deformities 349 g.22047212G>T Intron 3
822 c.350-?_2070+?del Deletion (Exon 4-20) - 4/28/2021 Likely Pathogenic CNV Deletion < 3 19513579, 34806794 2 bowed or bent legs 350 g.22076388_22227611del Intron 3
823 c.409dup p.Ile137Asnfs*9 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 - 409 g.22076447dup Exon 4
824 c.436+4A>T p.? - 4/28/2021 Likely Pathogenic Splicing Intronic < 3 33639975, 34806794 2 - 436 g.22076478A>T Intron 4
825 c.444del p.Ile148Metfs*73 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 Gait abnormalities, Lower limb deformities 444 g.22077483del Exon 5
826 c.468dup p.Leu157Alafs*15 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 Lower limb deformities, Reduced Serum Phosphate 468 g.22077507dup Exon 5
827 c.471del p.His158Thrfs*63 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 33639975, 34806794 2 - 471 g.22077510del Exon 5
828 c.552del p.Lys184Asnfs*37 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 Reduced Serum Phosphate, Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries 552 g.22077591del Exon 5
829 c.567_568del p.Gln189Hisfs*22 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 29707405, 34806794 2 - 567 g.22077606_22077607del Exon 5
830 c.614G>C p.Arg205Pro - 4/28/2021 Likely Pathogenic SNV Missense < 3 29901142, 34141703, 34806794 3 - 614 g.22077653G>C Exon 5
831 c.652_655del p.His218Serfs*2 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 29707405, 34806794 2 - 652 g.22077691_22077694del Exon 5
832 c.663+1G>T p.? Pathogenic 4/28/2021 Pathogenic Splicing Splice donor 3-5 33295632, 34806794 2 - 663 g.22077703G>T Intron 5
833 c.664-1G>C p.? - 4/28/2021 Pathogenic Splicing Splice acceptor < 3 32329911, 34806794 2 - 664 g.22090428G>C Intron 5
834 c.665_674del p.Leu222Glnfs*7 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 29707405, 34806794 2 - 665 g.22090430_22090439del Exon 6
835 c.717_721del p.Ser239Argfs*23 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 - 717 g.22090482_22090486del Exon 6
836 c.732+1G>A p.? - 4/28/2021 Pathogenic Splicing Splice donor < 3 32329911, 34806794 2 - 732 g.22090498G>A Intron 6
837 c.733-?_933+?del Deletion (Exons 7-8) - 4/28/2021 - CNV Deletion < 3 27884786, 34806794 2 - 733 g.22093983_22097038del Exons 7-8
838 c.733-?_1302+?del Deletion (Exons 7-11) - 4/28/2021 - CNV Deletion < 3 32329911, 34806794 2 - 733 g.22093983_22114586del Exons 7-11
839 c.733-?_1079+?del Deletion (Exons 7-9) Pathogenic 4/28/2021 - CNV Deletion < 3 34806794 1 Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate 733 g.22093983_22099151del Intron 6
840 c.739del p.Asp247Metfs*14 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 32329911, 34806794 2 - 739 g.22093989del Exon 7
841 c.767_768del p.Thr256Serfs*7 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 32897287, 34806794 2 - 767 g.22094017_22094018del Exon 7
842 c.849+3A>G p.? - 4/28/2021 Uncertain Significance Splicing Intronic < 3 33295632, 34806794 2 - 849 g.22094102A>G Intron 7
843 c.853dup p.Met285Asnfs*5 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 Reduced_TmP/GFR_(<LLN), Reduced Serum Phosphate, Lower limb deformities, Fractures/pseudo-fractures 853 g.22096958dup Exon 8
844 c.874dup p.Thr292Asnfs*13 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate 874 g.22096979dup Exon 8
845 c.891C>A p.Tyr297* - 4/28/2021 Pathogenic SNV Nonsense < 3 33639975, 34806794 2 - 891 g.22096996C>A Exon 8
846 c.899_900del p.Met300Lysfs*4 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 33295632, 34806794 2 - 899 g.22097004_22097005del Exon 8
847 c.931dup p.Gln311Profs*13 - 4/28/2021 Pathogenic Small duplication Frameshift < 3 28506344, 34806794 2 - 931 g.22097036dup Exon 8
848 c.949T>A p.Tyr317Asn - 4/28/2021 Likely Pathogenic SNV Missense < 3 32329911, 34806794 2 - 949 g.22099021T>A Exon 9
849 c.998_1000del p.Ile333del - 4/28/2021 Pathogenic Small deletion Deletion < 3 32329911, 34806794 2 - 998 g.22099070_22099072del Exon 9
850 c.1009_1405-9282del Partial Deletion (Exons 9-12) Pathogenic 4/28/2021 - Splicing Splice donor < 3 34806794 1 Reduced Serum Phosphate 1009 g.22099085_22159034del Intron 8
851 c.1027G>A p.Val343Ile Uncertain Significance 4/28/2021 - SNV Missense < 3 34806794 1 Lower limb deformities, Reduced Serum Phosphate 1027 g.22099099G>A Exon 9
852 c.1053_1077dup p.Lys360* Pathogenic 4/28/2021 - Small duplication Nonsense < 3 34806794 1 Gait abnormalities, Lower limb deformities 1053 g.22099125_22099149dup Exon 9
853 c.1174-2A>G Splice acceptor Pathogenic 4/28/2021 Pathogenic Splicing Splice acceptor 3-5 34141703, 34806794 2 - 1174 g.22114456A>G Intron 10
854 c.1218T>A p.Cys406* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 Reduced Serum Phosphate, Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures 1218 g.22114502T>A Exon 11
855 c.1302+4_1302+10del Intronic Likely Pathogenic 2022-02-02 00:00:00 - Small deletion Splice donor 3-5 34806794 1 Lower limb deformities 1302 g.22114590_22114596del Intron 11
856 c.1334C>A p.Ala445Asp Likely Pathogenic 4/28/2021 - SNV Missense < 3 34806794 1 Fractures/pseudo-fractures, Lower limb deformities 1334 g.22133554C>A Exon 12
857 c.1337delinsAATAA p.Phe446* - 4/28/2021 Pathogenic Small insertion Nonsense < 3 29707405, 34806794 2 - 1337 g.22133557delinsAATAA Exon 12
858 c.1382C>A p.Thr461Lys Likely Pathogenic 4/28/2021 - SNV Missense < 3 34806794 1 Lower limb deformities, Tooth abscesses and/or excessive dental caries 1382 g.22133602C>A Exon 12
859 c.1387dup p.Arg463Lysfs*23 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 - 1387 g.22133607dup Exon 12
860 c.1398dup p.Glu467Argfs*19 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate 1398 g.22133618dup Exon 12
861 c.1405-?_1482+?del Deletion (Exon 13) Likely Pathogenic 4/28/2021 - CNV Deletion < 3 34806794 1 Gait abnormalities, Lower limb deformities, Tooth abscesses and/or excessive dental caries 1405 g.22168313_22168390del Intron 12
862 c.1405_?del p.Ala469_?del - 4/28/2021 - Small deletion Deletion < 3 33639975, 34806794 2 - 1405 g.22168313_22168314del Exon 13
863 - Partial Deletion(Exon 13) Likely Pathogenic 4/28/2021 - CNV Deletion < 3 34806794 1 Gait abnormalities, Lower limb deformities, Tooth abscesses and/or excessive dental caries 1405 g.22168313 Exon 13
864 c.1446_1452del p.Ile482Metfs*30 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries 1446 g.22168353_22168359del Exon 13
865 c.1540G>C p.Ala514Pro - 4/28/2021 Pathogenic SNV Missense < 3 32329911, 34806794 2 - 1540 g.22178330G>C Exon 14
866 c.1543del p.Gln515SerfsTer7 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 32329911, 34806794 2 - 1543 g.22178333del Exon 14
867 c.1543_1544del p.Gln515Valfs*2 Pathogenic 2022-02-02 00:00:00 Pathogenic Small deletion Frameshift 3-5 33639975, 34806794 2 - 1543 g.22178333_22178334del Exon 14
868 c.1566_1570del p.Arg522Serfs*58 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 32619592, 34806794 2 - 1566 g.22178356_22178360del Exon 14
869 c.1586+5G>A Intronic Pathogenic 4/28/2021 - Splicing Intronic < 3 34806794 1 Gait abnormalities, Lower limb deformities 1586 g.22178381G>A Intron 14
870 c.1586+3G>T Intronic Likely Pathogenic 2022-02-02 00:00:00 Likely Pathogenic Splicing Splice donor < 3 34141703, 34806794 2 Reduced Serum Phosphate 1586 g.22178379G>T Intron 14
871 c.1586+6T>A Intronic - 4/28/2021 Likely Pathogenic Splicing Intronic 3-5 21885902, 34806794 2 - 1586 g.22178382T>A Intron 14
872 c.1589G>A p.Trp530* Pathogenic 4/28/2021 Pathogenic SNV Nonsense < 3 34141703, 34806794 2 - 1589 g.22190446G>A Exon 15
873 c.1640A>C p.Gln547Pro Likely Pathogenic 4/28/2021 - SNV Missense < 3 34806794 1 Lower limb deformities, Reduced Serum Phosphate 1640 g.22190497A>C Exon 15
874 c.1643T>C p.Ile548Thr - 4/28/2021 Likely Pathogenic SNV Missense 6-10 25237965, 34806794 2 - 1643 g.22190500T>C Exon 15
875 c.1646-46T>C p.? - 4/28/2021 Benign Splicing Intronic 3-5 33295632, 34806794 2 bowed or bent legs, short stature, deformation of chest, widening of the distal parts of the forearms 1646 g.22212858T>C Intron 15
876 c.1700+5G>A Intronic Likely Pathogenic 2022-02-02 00:00:00 - Splicing Splice donor < 3 34806794 1 Reduced_TmP/GFR_(<LLN), Gait abnormalities, Lower limb deformities 1700 g.22212963G>A Intron 16
877 c.1700+2T>C p.? - 4/28/2021 Pathogenic Splicing Splice donor < 3 16636593, 9199930, 33666701, 34806794 4 - 1700 g.22212960T>C Intron 16
878 c.1706T>G p.Leu569Arg - 4/28/2021 Likely Pathogenic SNV Missense < 3 33639975, 34806794 2 - 1706 g.22219041T>G Exon 17
879 c.1707_1710dup p.Tyr571Glufs*12 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 - 1707 g.22219042_22219045dup Exon 17
880 c.1723_1727dup p.Ile577Glufs*2 - 4/28/2021 Pathogenic Small duplication Frameshift < 3 32329911, 34806794 2 - 1723 g.22219058_22219062dup Exon 17
881 c.1735G>T p.Gly579* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 Fractures/pseudo-fractures, Lower limb deformities 1735 g.22219070G>T Exon 17
882 c.1750C>T p.His584Tyr Pathogenic 2022-02-02 00:00:00 - SNV Missense < 3 34806794 1 Lower limb deformities, Tooth abscesses and/or excessive dental caries, Reduced Serum Phosphate 1750 g.22219085C>T Exon 17
883 c.1753G>A p.Gly585Arg Likely Pathogenic 2022-02-02 00:00:00 - SNV Missense < 3 34806794 1 Lower limb deformities, Reduced Serum Phosphate 1753 g.22219088G>A Exon 17
884 c.1769-2A>G Splice acceptor Pathogenic 4/28/2021 - Splicing Splice acceptor < 3 34806794 1 Reduced Serum Phosphate, Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries 1769 g.22221611A>G Intron 17
885 c.1769-10C>T p.? - 4/28/2021 Benign Splicing Intronic < 3 33295632, 34141703, 34806794, 19219621, 24489884 5 - 1769 g.22221603C>T Intron 17
886 c.1769-2del p.? - 4/28/2021 Pathogenic Splicing Splice acceptor 3-5 32257293, 34806794 2 - 1769 g.22221611del Intron 17
887 c.1812del p.Thr605Leufs*14 Pathogenic 4/28/2021 - Small deletion Frameshift 6-10 34806794 1 Reduced_TmP/GFR_(<LLN), Reduced Serum Phosphate, Gait abnormalities, Lower limb deformities 1812 g.22221656_22221657del Exon 18
889 c.1844_1845del p.Thr615Lysfs*5 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 32329911, 34806794 2 - 1844 g.22221688_22221689del Exon 18
890 c.1873_1876dup p.Tyr626Leufs*22 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 Reduced_TmP/GFR_(<LLN), Reduced Serum Phosphate, Gait abnormalities, Lower limb deformities, Tooth abscesses and/or excessive dental caries 1873 g.22221717_22221720dup Exon 18
891 c.1875_1882dup p.Lys628Ilefs*8 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 Lower limb deformities, Reduced Serum Phosphate 1875 g.22221719_22221726dup Exon 18
892 c.1900-?_1965+?del Deletion (Exon 19) Pathogenic 4/28/2021 - CNV Deletion < 3 34806794 1 Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate 1900 g.22226445_22226510del Intron 18
893 c.1921G>T p.Gly641* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 Gait abnormalities, Lower limb deformities 1921 g.22226464G>T Exon 19
894 c.1936del p.Asp646Ilefs*16 - 4/28/2021 Pathogenic Small deletion Frameshift < 3 33639975, 34806794 2 - 1936 g.22226479_22226481del Exon 19
895 c.1936_?del p.Asp646_?del - 4/28/2021 - Small deletion Deletion < 3 32133333, 34806794 2 - 1936 g.22226479_22226480del Exon 19
896 c.1949T>C p.Leu650Pro Uncertain Significance 2022-02-02 00:00:00 Likely Pathogenic SNV Missense 3-5 32252220, 34011663, 34806794 3 abnormal bone development, genu varum, bowed or bent leg, short stature 1949 g.22226492T>C Exon 19
897 c.1961T>C p.Phe654Ser - 4/28/2021 Likely Pathogenic SNV Missense < 3 33639975, 34806794 2 - 1961 g.22226504T>C Exon 19
898 c.1962dup p.Arg655* - 4/28/2021 Pathogenic Small duplication Nonsense < 3 32329911, 34806794 2 - 1962 g.22226505_22226506dup Exon 19
899 c.1966-?_2070+?del Deletion (Exon 20) Likely Pathogenic 4/28/2021 - CNV Deletion < 3 34806794 1 Gait abnormalities, Lower limb deformities, Tooth abscesses and/or excessive dental caries 1966 g.22227508_22227612del Intron 19
900 c.1971C>G p.Tyr657* Pathogenic 4/28/2021 - SNV Nonsense 3-5 34806794 1 Fractures/pseudo-fractures, Lower limb deformities 1971 g.22227512C>G Exon 20
901 c.1979_1995dup p.Gln666Glyfs*2 - 4/28/2021 Pathogenic Small duplication Frameshift < 3 32329911, 34806794 2 - 1979 g.22227520_22227536dup Exon 20
902 c.1982_1986dup p.Asp663* Pathogenic 4/28/2021 - Small duplication Nonsense < 3 34806794 1 Lower limb deformities, Tooth abscesses and/or excessive dental caries, Reduced Serum Phosphate 1982 g.22227523_22227527dup Exon 20
903 c.1986_1989dup p.Arg664* - 4/28/2021 Pathogenic Small duplication Nonsense < 3 32329911, 34806794 2 - 1986 g.22227527_22227530dup Exon 20
904 c.1986_1987insTGAC p.Asp663* - 4/28/2021 Pathogenic Splicing Nonsense < 3 24926462, 23079138, 16636593, 34806794, 10439971 5 - 1986 g.22227527_22227528insTGAC Exon 20
905 c.2005_2016del p.Glu669_Leu672del Uncertain Significance 4/28/2021 - Small deletion Deletion < 3 34806794 1 - 2005 g.22227546_22227557del Exon 20
906 c.2048T>A p.Leu683His - 4/28/2021 Likely Pathogenic SNV Missense < 3 29707405, 34806794 2 - 2048 g.22227589T>A Exon 20
907 c.2050_2055del p.Phe684_Phe685del Uncertain Significance 4/28/2021 - Small deletion Deletion < 3 34806794 1 Reduced_TmP/GFR_(<LLN), Tooth abscesses and/or excessive dental caries, Reduced Serum Phosphate 2050 g.22227591_22227596del Exon 20
908 c.2058_2061dup p.Tyr688Glufs*30 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 - 2058 g.22227599_22227602dup Exon 20
909 c.2067_2068dup p.His690Leufs*3 Pathogenic 4/28/2021 - Small duplication Frameshift < 3 34806794 1 Fractures/pseudo-fractures, Reduced Serum Phosphate 2067 g.22227608_22227609dup Exon 20
910 c.2070+2T>G p.? - 4/28/2021 Pathogenic Splicing Splice donor < 3 32329911, 34806794 2 - 2070 g.22227613T>G Intron 20
911 c.2071-?_*3357+?dup Gain (Exons 21-22) Uncertain Significance 4/28/2021 - CNV Duplication < 3 34806794 1 Gait abnormalities, Lower limb deformities 2071 g.22245334_22251311dup Intron 20
912 c.2071-2_2072del - Pathogenic 4/28/2021 - Splicing Splice acceptor < 3 34806794 1 Gait abnormalities, Lower limb deformities, Tooth abscesses and/or excessive dental caries 2071 g.22245331_22245334del Intron 20
913 c.2082C>A p.Cys694* - 4/28/2021 - SNV Nonsense < 3 32329911, 34806794 2 - 2082 g.22245344T>A Exon 21
914 c.2088C>A p.Tyr696* - 4/28/2021 Pathogenic SNV Nonsense < 3 32329911, 34806794 2 - 2088 g.22245350C>A Exon 21
915 c.2116C>T p.Gln706* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 Reduced Serum Phosphate 2116 g.22245378C>T Exon 21
916 c.2125del p.Ala709Leufs*31 Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 Lower limb deformities 2125 g.22245387_22245388del Exon 21
917 c.2148-2A>T p.? - 4/28/2021 Pathogenic Splicing Splice acceptor < 3 16636593, 34806794 2 - 2148 g.22247849A>T Intron 21
918 c.2158_2165del p.Ala720* Pathogenic 4/28/2021 - Small deletion Frameshift < 3 34806794 1 Gait abnormalities, Lower limb deformities 2158 g.22247861_22247868del Exon 22
919 c.2179T>C p.Phe727Leu - 4/28/2021 Pathogenic SNV Missense 3-5 32329911, 16636593, 32511895, 34806794 4 - 2179 g.22247882T>C Exon 22
920 c.2188G>T p.Ala730Ser - 4/28/2021 Uncertain Significance SNV Missense < 3 29707405, 34806794 2 - 2188 g.22247891G>T Exon 22
921 c.? p.Cys733Arg - 4/28/2021 Pathogenic SNV Missense < 3 29933856, 29735309, 34806794 3 - 2199 g.22247901 Exon 22
922 c.2221A>T p.Arg741* Pathogenic 4/28/2021 - SNV Nonsense < 3 34806794 1 Gait abnormalities, Lower limb deformities 2221 g.22247924A>T Exon 22
923 c.2236dup p.Cys746Leufs*48 - 4/28/2021 Pathogenic Small duplication Frameshift < 3 32329911, 34806794 2 - 2236 g.22247939_22247940dup Exon 22
924 c.2248T>C p.*750Glnext*9 Likely Pathogenic 4/28/2021 - SNV - < 3 34806794 1 Reduced_TmP/GFR_(<LLN), Reduced Serum Phosphate 2248 g.22247951T>C Exon 22
925 c.?-2664_2949-?dup - - 4/28/2021 - CNV Duplication 6-10 33639975, 34806794 2 - 2664 g.22248358_22248359dup 3' UTR
981 - p.Ser722fs - 4/28/2021 Pathogenic Small insertion Frameshift < 3 16636593, 34806794 2 - 2166 g.22247869 Exon 22
982 c.51_52dup p.Gly18Glufs*15 nan 2022-02-02 00:00:00 Pathogenic Small insertion Frameshift <3 32253725 1 abnormal bone development, pectus carinatum, bowed or bent leg 52 g.22033056_22033057dup Exon 1
983 c.118+951C>T p.? nan 2022-02-02 00:00:00 Benign Splicing Intronic <3 19581284 1 - 118 g.22034074C>T Intron 1
984 c.118+2130T>A p.? nan 2022-02-02 00:00:00 Uncertain Significance Splicing Intronic <3 19581284 1 - 118 g.22035253T>A Intron 1
985 c.119-455C>T p.? nan 2022-02-02 00:00:00 Benign Splicing Intronic <3 22666411 1 - 119 g.22038014C>T Intron 1
986 c.160del p.Cys54Alafs*2 nan 2022-02-02 00:00:00 Pathogenic Small deletion Frameshift <3 32253725 1 - 160 g.22038510del Exon 2
987 c.161dup p.Cys54Trpfs*16 Pathogenic 2022-02-02 00:00:00 nan Small insertion Frameshift <3 - 0 Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Fractures/pseudo-fractures, Lower limb deformities, Short Stature 161 g.22038511dup Exon 2
988 c.187+1G>C p.? nan 2022-02-02 00:00:00 Pathogenic Splicing Splice donor <3 34141703 1 - 187 g.22038538G>C Intron 2
989 c.187+3_187+6del Intronic Uncertain Significance 2022-02-02 00:00:00 nan Small deletion Splice donor <3 - 0 Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature 187 g.22038540_22038543del Intron 2
990 c.187+354C>T p.? nan 2022-02-02 00:00:00 Benign Splicing Intronic <3 19581284 1 - 187 g.22038891C>T Intron 2
991 c.187+416G>A p.? nan 2022-02-02 00:00:00 Benign Splicing Intronic <3 19581284 1 - 187 g.22038953G>A Intron 2
992 c.187+491G>A p.? nan 2022-02-02 00:00:00 Uncertain Significance Splicing Intronic <3 19581284 1 - 187 g.22039028G>A Intron 2
993 c.188-3779C>G p.? nan 2022-02-02 00:00:00 Uncertain Significance Splicing Intronic <3 19581284 1 - 188 g.22043271C>G Intron 2
994 c.188-3425G>A p.? nan 2022-02-02 00:00:00 Benign Splicing Intronic <3 19581284 1 - 188 g.22043625G>A Intron 2
995 c.188-3319T>C p.? nan 2022-02-02 00:00:00 Benign Splicing Intronic <3 19581284 1 - 188 g.22043731T>C Intron 2
996 c.202dup p.Ser68Lysfs*2 Pathogenic 2022-02-02 00:00:00 nan Small insertion Frameshift <3 - 0 Fractures/pseudo-fractures, Short Stature 202 g.22047064dup Exon 3
997 c.227_240del p.Pro76Leufs*6 Pathogenic 2022-02-02 00:00:00 nan Small deletion Frameshift <3 - 0 nan 227 g.22047089_22047102del Exon 3
998 c.229T>C p.Cys77Arg nan 2022-02-02 00:00:00 Likely Pathogenic SNV Missense 3-5 34141703, 27840894 2 short stature, genu varum, teeth falling out 229 g.22047091T>C Exon 3
999 c.255T>A p.Cys85* Pathogenic 2022-02-02 00:00:00 nan SNV Nonsense <3 - 0 Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature 255 g.22047117T>A Exon 3
1000 c.304G>T p.Gly102Trp Likely Pathogenic 2022-02-02 00:00:00 nan SNV Missense <3 - 1 Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Lower limb deformities, Short Stature, 304 g.22047166G>T Exon 3
1001 c.316del p.Trp106Glyfs*2 Pathogenic 2022-02-02 00:00:00 nan Small deletion Frameshift <3 - 0 Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature 316 g.22047178del Exon 3
1002 c.350-14216G>A p.? nan 2022-02-02 00:00:00 Benign Splicing Intronic <3 21618345 1 - 350 g.22062172G>A Intron 3
1003 c.350-1G>C Splice acceptor Pathogenic 2022-02-02 00:00:00 nan Splicing Splice acceptor <3 - 0 nan 350 g.22076387G>C Intron 3
1004 c.402del p.Ala135Profs*9 nan 2022-02-02 00:00:00 Pathogenic Small deletion Frameshift <3 34141703 1 - 402 g.22076440del Exon 4
1005 c.413_419dup p.Ser141Leufs*7 Pathogenic 2022-02-02 00:00:00 nan Small insertion Frameshift <3 - 0 nan 419 g.22076451_22076457dup Exon 4
1006 c.436_436+1del p.? nan 2022-02-02 00:00:00 Pathogenic Small deletion Splice donor 3-5 34141703, 27840894 2 short stature, genu varum 436 g.22076474_22076475del Exon 4, Intron 4
1007 c.436+5_436+8del p.? nan 2022-02-02 00:00:00 Uncertain Significance Small deletion Splice donor <3 18625346 1 - 436 g.22076479_22076482del Intron 4
1008 c.436+6T>A Intronic Likely Pathogenic 2022-02-02 00:00:00 nan Splicing Splice donor <3 - 0 Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Lower limb deformities 436 g.22076480T>A Intron 4
1009 c.488C>A p.Ser163* nan 2022-02-02 00:00:00 Pathogenic SNV Nonsense <3 33796255 1 short stature, pain, dental abscesses 488 g.22077527C>A Exon 5
1010 c.501G>A p.Trp167* nan 2022-02-02 00:00:00 Pathogenic SNV Nonsense <3 33666701 1 - 501 g.22077540G>A Exon 5
1011 c.518_520delATAinsTT p.Asn173Ilefs*48 nan 2022-02-02 00:00:00 Pathogenic Deletion/Insertion Frameshift <3 32253725 1 abnormal bone development, pectus carinatum, bowed or bent leg, short stature 518 g.22077557_22077559delinsTT Exon 5
1012 c.528del p.Glu177Lysfs*44 nan 2022-02-02 00:00:00 Pathogenic Small deletion Frameshift <3 34141703, 27840894 2 genu varum 528 g.22077567del Exon 5
1013 c.572T>C p.Leu191Pro nan 2022-02-02 00:00:00 Likely Pathogenic SNV Missense <3 32253725 1 short stature, pain, bowed or bent leg, dental abscesses 572 g.22077611T>C Exon 5
1014 c.620_623del p.Tyr207Cysfs*13 nan 2022-02-02 00:00:00 Pathogenic Small deletion Frameshift <3 33666701 1 - 620 g.22077659_22077662del Exon 5
1015 c.637A>T p.Lys213* nan 2022-02-02 00:00:00 Pathogenic SNV Nonsense <3 34141703 1 - 637 g.22077676A>T Exon 5
1016 c.643dup p.Ser215Phefs*3 Pathogenic 2022-02-02 00:00:00 nan Small insertion Frameshift <3 - 0 nan 643 g.22077682dup Exon 5
1017 c.657_658del p.Leu220Glufs*17 nan 2022-02-02 00:00:00 Pathogenic Small deletion Frameshift <3 32253725 1 short stature, pectus carinatum 657 g.22077696_22077697del Exon 5
1018 c.671_685del p.Gln224_Ser228del nan 2022-02-02 00:00:00 Likely Pathogenic Small deletion Deletion <3 33907069 1 short stature, bowed or bent leg, abnormal bone development, joint pain, dental caries 671 g.22090436_22090450del Exon 6
1019 c.719del p.Thr240Lysfs*21 Pathogenic 2022-02-02 00:00:00 nan Small deletion Frameshift <3 - 0 Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Lower limb deformities 719 g.22090484del Exon 6
1020 c.732+3A>T Intronic Uncertain Significance 2022-02-02 00:00:00 nan Splicing Splice donor <3 - 0 Lower limb deformities, Short Stature 732 g.22090500A>T Intron 6
1021 c.733-2A>T Splice acceptor Pathogenic 2022-02-02 00:00:00 nan Splicing Splice acceptor <3 - 0 Gait abnormalities, Lower limb deformities, Short Stature 733 g.22093981A>T Intron 6
1022 c.812T>G p.Met271Arg nan 2022-02-02 00:00:00 Likely Pathogenic SNV Missense <3 34141703 1 - 812 g.22094062T>G Exon 7
1023 c.849+1G>C p.? nan 2022-02-02 00:00:00 Pathogenic Splicing Splice donor <3 34141703, 27840894 2 stunted growth, pectus carinatum, abnormal bone development 849 g.22094100G>C Intron 7
1024 c.849+128G>A p.? - 2022-02-02 00:00:00 Benign Splicing Intronic <3 19219621 1 - 849 g.22094227G>A Intron 7
1025 c.895A>T p.Lys299* Pathogenic 2022-02-02 00:00:00 nan SNV Nonsense <3 - 0 nan 895 g.22097000A>T Exon 8
1026 c.907del p.Ser303Leufs*3 Pathogenic 2022-02-02 00:00:00 nan Small deletion Frameshift <3 - 0 Gait abnormalities, Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short Stature 907 g.22097012del Exon 8
1027 c.917del p.Ser306Metfs*3 nan 2022-02-02 00:00:00 Pathogenic Small deletion Frameshift <3 34141703 1 - 917 g.22097022del Exon 8
1028 c.933+1G>C p.? nan 2022-02-02 00:00:00 Pathogenic Splicing Splice donor <3 32253725 1 abnormal bone development, pectus carinatum, bowed or bent leg, short stature 933 g.22097039G>C Intron 8
1029 c.934-12_936del p.? nan 2022-02-02 00:00:00 Likely Pathogenic Small deletion Splice acceptor <3 32253725 1 abnormal bone development, pectus carinatum, bowed or bent leg, short stature 934 g.22098994_22099008del Exon 9, Intron 8
1030 c.934-1G>A p.? Pathogenic 2022-02-02 00:00:00 Pathogenic Splicing Splice acceptor <3 28509123 1 bowed or bent legs, short stature 934 g.22099005G>A Intron 8
1031 c.943_946del p.Leu315Alafs*15 Pathogenic 2022-02-02 00:00:00 nan Small deletion Frameshift <3 - 0 nan 943 g.22099015_22099018del Exon 9
1032 c.1016T>A p.Val339Glu nan 2022-02-02 00:00:00 Likely Pathogenic SNV Missense <3 34141703 1 - 1016 g.22099088T>A Exon 9
1033 c.1038C>A p.Tyr346* nan 2022-02-02 00:00:00 Pathogenic SNV Nonsense <3 34141703 1 - 1038 g.22099110C>A Exon 9
1034 c.1046A>G p.Asp349Gly Likely Pathogenic 2022-02-02 00:00:00 nan SNV Missense <3 - 0 nan 1046 g.22099118A>G Exon 9
1035 c.1065del p.Ser356Leufs*37 nan 2022-02-02 00:00:00 Pathogenic Small deletion Frameshift <3 32253725 1 abnormal bone development, pectus carinatum, bowed or bent leg, short stature 1065 g.22099137del Exon 9
1036 c.1087G>C p.Ala363Pro Pathogenic 2022-02-02 00:00:00 nan SNV Missense <3 - 0 nan 1087 g.22111474G>C Exon 10
1037 c.1104_1106dupGAG p.Arg369dup nan 2022-02-02 00:00:00 Likely Pathogenic Small insertion Insertion <3 32253725 1 abnormal bone development, pectus carinatum, bowed or bent leg, short stature 1106 g.22111491_22111493dup Exon 10
1038 c.1138del p.Arg380Glyfs*13 Pathogenic 2022-02-02 00:00:00 nan Small deletion Frameshift <3 - 0 Gait abnormalities, Lower limb deformities, Short Stature, Gait abnormalities, Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short Stature 1138 g.22111525del Exon 10
1039 c.1167_1173+17del p.? nan 2022-02-02 00:00:00 Pathogenic Small deletion Splice donor <3 32253725 1 abnormal bone development, bowed or bent leg, short stature 1167 g.22111554_22111577del Exon 10, Intron 10
1040 c.1168del p.Ser390Glnfs*3 Pathogenic 2022-02-02 00:00:00 nan Small deletion Frameshift <3 - 0 Lower limb deformities, Short Stature 1168 g.22111555del Exon 10
1041 c.1174-937T>G p.? nan 2022-02-02 00:00:00 Benign Splicing Intronic <3 21644943 1 - 1174 g.22113521T>G Intron 10
1042 c.1174-3C>G p.? nan 2022-02-02 00:00:00 Likely Pathogenic Splicing Intronic <3 34141703 1 - 1174 g.22114455C>G Intron 10
1043 c.1220T>G p.Val407Gly Uncertain Significance 2022-02-02 00:00:00 nan SNV Missense <3 - 0 Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short Stature 1220 g.22114504T>G Exon 11
1044 c.1234del p.Ser412Valfs*12 nan 2022-02-02 00:00:00 Pathogenic Small deletion Frameshift 6-10 34141703, 27840894 2 abnormal bone development, pectus carinatum, bowed or bent leg, short stature 1234 g.22114518del Exon 11
1045 c.1303-3589C>G p.? nan 2022-02-02 00:00:00 Uncertain Significance Splicing Intronic <3 16183656 1 - 1303 g.22129934C>G Intron 11
1046 c.1303-1G>C p.? nan 2022-02-02 00:00:00 Pathogenic Splicing Splice acceptor <3 34141703 1 - 1303 g.22133522G>C Intron 11
1047 c.1333del p.Ala445Profs*6 nan 2022-02-02 00:00:00 Pathogenic Small deletion Frameshift <3 32253725 1 abnormal bone development, bowed or bent leg 1333 g.22133553del Exon 12
1048 c.1366T>G p.Trp456Gly nan 2022-02-02 00:00:00 Likely Pathogenic SNV Missense <3 33666701 1 - 1366 g.22133586T>G Exon 12
1049 c.1404+9251G>A p.? nan 2022-02-02 00:00:00 Benign Splicing Intronic <3 21326311 1 - 1404 g.22142875G>A Intron 12
1050 c.1405-6860C>T p.? nan 2022-02-02 00:00:00 Benign Splicing Intronic <3 20018918 1 - 1405 g.22161452C>T Intron 12
1051 c.1406C>A p.Ala469Glu nan 2022-02-02 00:00:00 Likely Pathogenic SNV Missense 3-5 33666701 1 - 1406 g.22168313C>A Exon 13
1052 c.1415T>A p.Val472Asp nan 2022-02-02 00:00:00 Likely Pathogenic SNV Missense <3 34141703 1 - 1415 g.22168322T>A Exon 13
1053 c.1426G>A p.Val476Ile Uncertain Significance 2022-02-02 00:00:00 nan SNV Missense <3 - 0 Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Fractures/pseudo-fractures 1426 g.22168333G>A Exon 13
1054 c.1461del p.His487Glnfs*27 nan 2022-02-02 00:00:00 Pathogenic Small deletion Frameshift <3 34141703, 33796255 2 short stature, pain, bowed or bent leg, dental abscesses 1461 g.22168368del Exon 13
1055 c.1483-1012C>T p.? nan 2022-02-02 00:00:00 Benign Splicing Intronic <3 28900292 1 - 1483 g.22177261C>T Intron 13
1056 c.1483-804T>A p.? nan 2022-02-02 00:00:00 Pathogenic Splicing Intronic <3 33953992 1 ossified posterior longitudinal ligament, ossified anterior longitudinal ligament, bowed or bent legs, short stature, deformities of the long bones, spinal stenosis 1483 g.22177469T>A Intron 13
1057 c.1506C>G p.Tyr502* Pathogenic 2022-02-02 00:00:00 Pathogenic SNV Nonsense <3 33666701 1 - 1506 g.22178296C>G Exon 14
1058 c.1585_1586del p.Glu529Valfs*52 Pathogenic 2022-02-02 00:00:00 nan Small deletion Frameshift <3 - 0 Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short Stature 1585 g.22178376_22178377del Exon 14
1059 c.1587-46C>T p.? nan 2022-02-02 00:00:00 Uncertain Significance Splicing Intronic <3 24857004 1 - 1587 g.22190398C>T Intron 14
1060 c.1590del p.Trp530Cysfs*40 nan 2022-02-02 00:00:00 Pathogenic Small deletion Frameshift <3 32253725 1 abnormal bone development, bowed or bent leg 1590 g.22190447del Exon 15
1061 c.1604C>T p.Thr535Met nan 2022-02-02 00:00:00 Likely Pathogenic SNV Missense <3 33888711 1 stunted growth, abnormal bone development, flexion contracture 1604 g.22190461C>T Exon 15
1062 c.1621T>G p.Tyr541Asp Likely Pathogenic 2022-02-02 00:00:00 nan SNV Missense <3 - 0 nan 1621 g.22190478T>G Exon 15
1063 c.1645+4A>C Intronic Uncertain Significance 2022-02-02 00:00:00 nan Splicing Splice donor <3 - 0 nan 1645 g.22190506A>C Intron 15
1064 c.1646-1493C>A p.? nan 2022-02-02 00:00:00 Benign Splicing Intronic <3 20672378 1 - 1646 g.22211411C>A Intron 15
1065 c.1650_1652delTCCinsAGGGTTAGGGTTAGGGTTTAGAGTTAGGGTTAGGGTTAGGGTT p.Phe550Leufs*45 nan 2022-02-02 00:00:00 Likely Pathogenic Deletion/Insertion Frameshift <3 32253725 1 abnormal bone development, pectus carinatum, bowed or bent leg 1650 g.22212908_22212910delinsAGGGTTAGGGTTAGGGTTTAGAGTTAGGGTTAGGGTTAGGGTT Exon 16
1066 c.1682G>A p.Trp561* Pathogenic 2022-02-02 00:00:00 nan SNV Nonsense <3 - 0 nan 1682 g.22212940G>A Exon 16
1067 c.1768G > A p. G590S nan 2022-02-02 00:00:00 nan SNV Missense 3-5 35251124 1 short stature, gene varum, osteoarthritis 1768 g.22219103G>A Exon 17
1068 c.1768+1G>T p.? nan 2022-02-02 00:00:00 Pathogenic Splicing Splice donor <3 34141703 1 - 1768 g.22219104G>T Intron 17
1069 c.1768+2T>C p.? nan 2022-02-02 00:00:00 Pathogenic Splicing Splice donor <3 32253725 1 abnormal bone development, pectus carinatum, bowed or bent leg, short stature 1768 g.22219105T>C Intron 17
1070 c.1769-6_1784dup Intronic Uncertain Significance 2022-02-02 00:00:00 nan Small insertion Nonsense <3 - 0 nan 1784 g.22221607_22221628dup Exon 18
1071 c.1844_1845dup p.Lys616Glnfs*4 nan 2022-02-02 00:00:00 Pathogenic Small insertion Frameshift <3 30406928 1 abnormal dental development, bowed or bent legs, stunted growth, abnormal bone development 1845 g.22221688_22221689dup Exon 18
1072 c.1864T>C p.Tyr622His Uncertain Significance 2022-02-02 00:00:00 nan SNV Missense <3 - 0 Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature 1864 g.22221708T>C Exon 18
1073 c.1885_1888dup p.Ala630Glufs*18 Pathogenic 2022-02-02 00:00:00 nan Small insertion Frameshift <3 - 0 Bone and/or joint pain and/or joint stiffness, Lower limb deformities 1888 g.22221729_22221732dup Exon 18
1074 c.1895_1899+18del p.? nan 2022-02-02 00:00:00 Pathogenic Small deletion Splice donor <3 19219621 1 abnormal bone development, radiological signs of rickets 1895 g.22221739_22221761del Exon 18, Intron 18
1075 c.1900-29_1900-28insATT p.? nan 2022-02-02 00:00:00 Uncertain Significance Small insertion Intronic <3 19219621 1 - 1900 g.22226414_22226415insATT Intron 18
1076 c.1937A>G p.Asp646Gly Pathogenic 2022-02-02 00:00:00 nan SNV Missense <3 - 0 nan 1937 g.22226480A>G Exon 19
1077 c.1951del p.Arg651Glyfs*11 Pathogenic 2022-02-02 00:00:00 nan Small deletion Frameshift <3 - 0 Lower limb deformities, Short Stature, Gait abnormalities, Lower limb deformities, Short Stature 1951 g.22226494del Exon 19
1078 c.1985del p.Asn662Metfs*25 Pathogenic 2022-02-02 00:00:00 nan Small deletion Frameshift <3 - 0 Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Short Stature 1985 g.22227526del Exon 20
1079 c.2002_2006dup p.Glu669Aspfs*20 nan 2022-02-02 00:00:00 Pathogenic Small insertion Frameshift 3-5 34141703, 32253725 2 abnormal bone development, pectus carinatum, bowed or bent leg 2006 g.22227543_22227547dup Exon 20
1080 c.2011_2045del p.Pro671Alafs*34 nan 2022-02-02 00:00:00 Pathogenic Small deletion Frameshift <3 33666701 1 - 2011 g.22227552_22227586del Exon 20
1081 c.2011C>A p.Pro671Thr nan 2022-02-02 00:00:00 Uncertain Significance SNV Missense <3 34141703 1 - 2011 g.22227552C>A Exon 20
1082 c.2039_2042dup p.Asn681Lysfs*37 nan 2022-02-02 00:00:00 Pathogenic Small insertion Frameshift <3 34141703 1 - 2042 g.22227580_22227583dup Exon 20
1083 c.2054_2057delinsA p.Phe685* nan 2022-02-02 00:00:00 Pathogenic Deletion/Insertion Nonsense <3 34141703 1 - 2054 g.22227595_22227598delinsA Exon 20
1084 c.2071-1G>C Splice acceptor Pathogenic 2022-02-02 00:00:00 nan Splicing Splice acceptor <3 - 0 nan 2071 g.22245332G>C Intron 20
1085 c.2078G>C p.Cys693Ser Pathogenic 2022-02-02 00:00:00 nan SNV Missense <3 - 0 Gait abnormalities, Fractures/pseudo-fractures, Lower limb deformities, Short Stature 2078 g.22245340G>C Exon 21
1086 c.2126del p.Ala709Valfs*31 Pathogenic 2022-02-02 00:00:00 nan Small deletion Frameshift <3 - 0 nan 2126 g.22245388del Exon 21
1087 c.2142G>C p.Gln714His nan 2022-02-02 00:00:00 Uncertain Significance SNV Missense <3 34141703 1 nan 2142 g.22245404G>C Exon 21
1088 c.2147_2147+3del Splice site Pathogenic 2022-02-02 00:00:00 nan Small deletion Splice donor <3 - 0 Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Fractures/pseudo-fractures, Lower limb deformities, Short Stature 2147 g.22245409_22245412del Exon 21, Intron 21
1089 c.2147+1_2147+8del p.? nan 2022-02-02 00:00:00 Pathogenic Small deletion Splice donor <3 21994957 1 - 2147 g.22245411_22245418del Intron 21
1090 c.2147+2T>G p.? nan 2022-02-02 00:00:00 Pathogenic Splicing Splice donor nan 31927522 1 nan 2147 g.22245411T>G Intron 21
1091 c.2154_2169delinsA p.Asn718_Asn723delinsLys nan 2022-02-02 00:00:00 Likely Pathogenic Deletion/Insertion Deletion <3 34141703 1 - 2154 g.22247857_22247872delinsA Exon 22
1092 c.2157_2160dup p.Ile721Cysfs*3 Pathogenic 2022-02-02 00:00:00 nan Small insertion Frameshift <3 - 0 Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short Stature 2160 g.22247860_22247863dup Exon 22
1093 c.2194_2197dup p.Cys733* nan 2022-02-02 00:00:00 Pathogenic Small insertion Nonsense <3 24857004 1 - 2197 g.22247897_22247900dup Exon 22
1094 c.2199T>A p.Cys733* Pathogenic 2022-02-02 00:00:00 nan SNV Nonsense <3 - 0 nan 2199 g.22247902T>A Exon 22
1095 c.2214_2234del p.Met739_Ser745del Uncertain Significance 2022-02-02 00:00:00 nan Small deletion Deletion <3 - 0 Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short Stature 2214 g.22247917_22247937del Exon 22
1096 c.2216_2225del p.Met739Thrfs*29 Pathogenic 2022-02-02 00:00:00 nan Small deletion Frameshift <3 - 0 nan 2216 g.22247919_22247928del Exon 22
1097 c.2227dup p.Met743Asnfs*51 nan 2022-02-02 00:00:00 Pathogenic Small insertion Frameshift <3 32698954 1 difficulty walking, genu varum, lower limb weakness, myelopathy, pain, bowed or bent legs, Ankylosis, short stature, paravertebral ligament ossification, 2227 g.22247930dup Exon 22
1098 c.2230_2231insC p.Asp744Alafs*50 nan 2022-02-02 00:00:00 Pathogenic Small insertion Frameshift <3 32253725 1 abnormal bone development, pectus carinatum, bowed or bent leg 2230 g.22247933_22247934insC Exon 22
1099 c.2237G>T p.Cys746Phe Likely Pathogenic 2022-02-02 00:00:00 nan SNV Missense <3 - 0 Gait abnormalities, Lower limb deformities 2237 g.22247940G>T Exon 22
1100 c.2240G>C p.Arg747Pro Likely Pathogenic 2022-02-02 00:00:00 nan SNV Missense <3 - 0 Lower limb deformities 2240 g.22247943G>C Exon 22
1101 c.2245T>A p.Trp749Arg Likely Pathogenic 2022-02-02 00:00:00 - SNV Missense <3 - 0 Reduced Serum Phosphate 2245 g.22247948T>A Exon 22
1102 c.221del p.Val74Glyfs*16 nan 2022-02-02 00:00:00 Pathogenic Small deletion Frameshift <3 34141703 1 - 221 g.22047083del Exon 3
1103 c.411_414del p.Leu138Ilefs*5 nan 2022-02-02 00:00:00 Pathogenic Small deletion Frameshift <3 34141703 1 - 411 g.22076449_22076452del Exon 4
1104 c.548_549del p.Arg183Lysfs*28 nan 2022-02-02 00:00:00 Pathogenic Small deletion Frameshift <3 32253725 1 abnormal bone development, bowed or bent leg, short stature 548 g.22077587_22077588del Exon 5
1105 c.594C>A p.Tyr198* nan 2022-02-02 00:00:00 Pathogenic SNV Nonsense <3 32253725 1 abnormal bone development, short stature 594 g.22077633C>A Exon 5
1106 c.927del p.Gln311Serfs*20 nan 2022-02-02 00:00:00 Pathogenic Small deletion Frameshift <3 32253725 1 abnormal bone development, bowed or bent leg, short stature 927 g.22097032del Exon 8
1107 c.931del p.Gln311Serfs*20 nan 2022-02-02 00:00:00 Pathogenic Small deletion Frameshift <3 34141703 1 - 931 g.22097036del Exon 8
1108 c.940T>C p.Trp314Arg nan 2022-02-02 00:00:00 Likely Pathogenic SNV Missense <3 34141703 1 - 940 g.22099012T>C Exon 9
1109 c.986_1004delATCTGAAAGACATCAGCCC p.His329Profs*20 nan 2022-02-02 00:00:00 Pathogenic Small deletion Frameshift <3 32253725 1 abnormal bone development, pectus carinatum, bowed or bent leg 986 g.22099058_22099076del Exon 9
1110 c.1404G>T p.Lys468Asn nan 2022-02-02 00:00:00 Likely Pathogenic SNV Missense <3 32253725 1 abnormal bone development, bowed or bent leg, short stature 1404 g.22133624G>T Exon 12
1111 c.1525delA p.Thr509Leufs*5 Pathogenic 2022-02-02 00:00:00 nan Small deletion Frameshift 3-5 - 0 - 1525 g.22178315del Exon 14
1112 c.1783A>T p.Lys595* nan 2022-02-02 00:00:00 Pathogenic SNV Nonsense <3 32253725 1 short stature, Chiari malformation, Dolichocephaly 1783 g.22221627A>T Exon 18
1113 c.1863_1870del p.Tyr622Leufs*22 nan 2022-02-02 00:00:00 Pathogenic Small deletion Frameshift <3 34141703 1 - 1863 g.22221707_22221714del Exon 18
1114 c.2064T>G p.Tyr688* nan 2022-02-02 00:00:00 Conflict SNV Nonsense 3-5 32253725 1 abnormal bone development, pectus carinatum, bowed or bent leg, short stature 2064 g.22227605T>G Exon 20
1115 c.-562-?_1404+?del Deletion (Exons 1-12) Pathogenic 2022-02-02 00:00:00 nan CNV Deletion <3 - 0 Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Fractures/pseudo-fractures, Lower limb deformities, Short Stature -562 g.22032446_22133624del 5' UTR
1116 c.134_135ins? p.Leu45fs Pathogenic 2022-02-02 00:00:00 nan Small insertion nan <3 - 0 - 134 g.22038484_22038485 Exon 2
1117 c.350-?_933+?dup Gain (Exons 4-8) Pathogenic 2022-02-02 00:00:00 nan Duplication nan <3 - 0 Lower limb deformities, Short Stature 350 g.22076388_22097038dup Intron 3
1118 c.350-?_1079+?dup Gain (Exons 4-9) Likely Pathogenic 2022-02-02 00:00:00 nan Duplication nan <3 - 0 Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short Stature 350 g.22076388_22099151dup Intron 3
1119 c.664-?_732+?dup Gain (Exon 6) Uncertain Significance 2022-02-02 00:00:00 nan Small duplication nan <3 - 0 - 664 g.22090429__22090497dup Exon 6
1120 c.664-?_849+?del Deletion (Exons 6-7) nan 2022-02-02 00:00:00 nan nan Deletion 3-5 33666701 1 - 664 g.22090429_22094099del Exon 6 - 7
1121 c.664-?_1302+?del Deletion (Exons 6-11) nan 2022-02-02 00:00:00 nan nan Deletion <3 34141703 1 - 664 g.22090429_22114586 Exon 6 - 11
1122 c.1052_1053ins? p.Phe351fs Pathogenic 2022-02-02 00:00:00 nan Small insertion nan <3 - 0 Lower limb deformities, Short Stature 1052 g.22099124_22099125ins Exon 9
1123 c.1080-?_1404+?del Deletion (Exons 10-12) nan 2022-02-02 00:00:00 nan Deletion Deletion <3 34141703 1 - 1080 g.22111468_22133624del Exon 10 - 12
1124 c.1303-?_1645+?dup Gain (Exons 12-15) Likely Pathogenic 2022-02-02 00:00:00 nan nan nan <3 - 0 Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature 1303 g.22133523_22190505dup Exon 12 - 15
1125 c.1587-?_*3357+?del Deletion (Exons 15-22) nan 2022-02-02 00:00:00 nan nan Deletion <3 34141703 1 - 1587 g.22190447_22251312del Exon 15 - 22
1126 c.1646-?_1899+?del Deletion (Exons 16-18) nan 2022-02-02 00:00:00 nan nan Deletion <3 32253725 1 - 1646 g.22212905_22221743del Exon 16 - 18
1127 c.1769-?_1899+?del Deletion (Exon 18) Pathogenic 2022-02-02 00:00:00 nan Deletion nan <3 - 0 - 1769 g.22221615_22221743del Intron 17
1130 c.? p.Met253Ile nan 2022-02-02 00:00:00 Likely Pathogenic nan Missense <3 11502829 1 - 759 g.22094009 Exon 7
1131 c.? p.Trp314Arg nan 2022-02-02 00:00:00 Likely Pathogenic nan Missense <3 22161748 1 - 940 g.22099012 Exon 9
1132 c.? p.Cys406Ser - 2022-02-02 00:00:00 Likely Pathogenic nan Missense <3 25042154 1 - 1216 g.22114500 Exon 11
1133 c.? p.Tyr426* nan 2022-02-02 00:00:00 Pathogenic nan Nonsense 3-5 11502829 1 bowed or bent legs, dental abscesses 1278 g.22114562 Exon 11
1134 c.? Partial deletion (Exon 12) Pathogenic 2022-02-02 00:00:00 nan nan nan <3 - 0 Reduced_TmP/GFR_(<LLN), Reduced Serum Phosphate, Gait abnormalities, Muscle pain and/or weakness and/or fatigue, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature 1303 g.22133523 Exon 12
1135 Complex Rearrangement/Intron 12 - Exon 13 Intron 12 - Exon 13 Likely Pathogenic 2022-02-02 00:00:00 nan nan nan <3 - 0 Short Stature 1405 g.22251311 Intron 12 - Exon 13
1136 c.? Partial deletion (Exon 13) Likely Pathogenic 2022-02-02 00:00:00 nan nan nan <3 - 0 Gait abnormalities, Muscle pain and/or weakness and/or fatigue, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short Stature 1405 g.22251311 Exon 13
1137 c.? Partial deletion (Exon 15) Likely Pathogenic 2022-02-02 00:00:00 nan nan nan <3 - 0 - 1587 g.22190447 Exon 15
1138 c.? Deletion (Exons 18-20) Pathogenic 2022-02-02 00:00:00 nan Deletion nan <3 - 0 Gait abnormalities, Lower limb deformities, Short Stature 1769 g.22221615 Exons 18-20
1139 c.? Deletion (Exons 21-22) Pathogenic 2022-02-02 00:00:00 nan nan nan <3 - 0 Lower limb deformities, Short Stature 2071 g.22245334 Exons 21-22
1140 c.? p.Ser711Arg nan 2022-02-02 00:00:00 Pathogenic nan Missense 3-5 11502829 1 bowed or bent legs, dental abscesses 2133 g.22245395 Exon 21
1141 c.? p.Trp749Arg nan 2022-02-02 00:00:00 Likely Pathogenic nan Missense 3-5 10439971, 21604088, 12001226 1 abnormal bone development 2244 g.22247947 Exon 22