PHEX_0001 | c.-562-?_118+?del | Deletion (Exon 1) | PHEX | CNV | Deletion | Pathogenic | 5-10 | Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb D.... | 21994957, 32253725, 34806794 | Exon 1 |
PHEX_0006 | c.-562-?_187+?del | Deletion (Exons 1-2) | PHEX | CNV | Deletion | Pathogenic | 5-10 | Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries | 34141703, 34806794 | 5' UTR |
PHEX_0004 | c.-562-?_349+?del | Deletion (Exons 1-3) | PHEX | CNV | Deletion | Pathogenic | <5 | | 16636593, 11502829, 19581284, 22577109, 33666701, 34141703, 34806794 | Exon 1 - 3 |
PHEX_0007 | c.-562-?_663+?del | Deletion (Exons 1-5) | PHEX | CNV | Deletion | Pathogenic | <5 | | 34806794 | 5' UTR |
PHEX_0815 | c.-562-?_1079+?del | Deletion (Exon 1-9) | PHEX | CNV | Deletion | Likely Pathogenic | 30+ | | 19513579, 34806794 | Exon 1 - 9 |
PHEX_0014 | c.-562-?_1173+?del | Deletion (Exons 1-10) | PHEX | CNV | Deletion | Pathogenic | <5 | | 34806794 | 5' UTR |
PHEX_0814 | c.-562-?_1586+?del | Deletion (Exons 1-14) | PHEX | CNV | Deletion | Pathogenic | <5 | Gait abnormalities, Tooth abscesses and/or excessive dental caries, Reduced Serum Phosphate | 34806794 | 5' UTR |
PHEX_0003 | c.-562-?_1645+?del | Deletion (Exons 1-15) | PHEX | CNV | Deletion | Pathogenic | <5 | | 34806794 | 5' UTR |
PHEX_1115 | c.-562-?_1404+?del | Deletion (Exons 1-12) | PHEX | CNV | Deletion | Pathogenic | <5 | Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscess.... | | 5' UTR |
PHEX_0015 | c.-562-?_*3357+?del | Deletion (Exons 1-22) | PHEX | CNV | Deletion | Pathogenic | <5 | Bone and/or joint pain and/or joint stiffness, Lower limb deformities | 34806794 | 5' UTR |
PHEX_0008 | c.-430A>G | p.? | PHEX | SNV | Untranslated region | Uncertain Significance | <5 | | 9768674, 34806794 | 5' UTR |
PHEX_0009 | c.-92G>A | p.? | PHEX | SNV | Untranslated region | Uncertain Significance | <5 | | 9768674, 34806794 | 5' UTR |
PHEX_0010 | c.-33C>T | p.? | PHEX | SNV | Untranslated region | Benign | <5 | | 9768674, 34806794, 19219621 | 5' UTR |
PHEX_0013 | c.-29_118+534del | Deletion (Exon 1) | PHEX | Splicing | Deletion | Pathogenic | <5 | | 34806794 | 5' UTR |
PHEX_0011 | c.-14_8delinsTGGGAGCAGCGTGG | p.? | PHEX | Small insertion | Deletion | Pathogenic | <5 | | 22695891, 34806794 | Exon 1 |
PHEX_0016 | c.1A>G | p.Met1? | PHEX | SNV | Missense | Uncertain Significance | <5 | | 21994957, 30682568, 34806794 | Exon 1 |
PHEX_0017 | c.2T>C | p.Met1? | PHEX | SNV | Unknown | Pathogenic | <5 | | 34806794 | Exon 1 |
PHEX_0018 | c.4G>T | p.Glu2* | PHEX | SNV | Nonsense | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Short Stature, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries | 26051471, 34806794 | Exon 1 |
PHEX_0019 | c.10G>C | p.Glu4Gln | PHEX | SNV | Missense | Uncertain Significance | <5 | | 16636593, 31180159, 34141703, 34806794 | Exon 1 |
PHEX_0020 | c.15_16del | p.Gly6Glufs*44 | PHEX | Small deletion | Frameshift | Pathogenic | 5-10 | Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate | 22577109, 34806794 | Exon 1 |
PHEX_0021 | c.17_18del | p.Gly6Glufs*44 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 16636593, 11502829, 34806794 | Exon 1 |
PHEX_0022 | c.20_21insAG | p.Ser7Argfs*24 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 19219621, 34806794 | Exon 1 |
PHEX_0023 | c.24C>T | p.Ser8= | PHEX | SNV | Synonymous | Likely Benign | <5 | | 11502829, 34806794 | Exon 1 |
PHEX_0024 | c.27_28insA | p.Glu10Argfs*41 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | Lower Limb Deformities | 34806794 | Exon 1 |
PHEX_0025 | c.30_36del | p.Thr11Argfs*19 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 34806794 | Exon 1 |
PHEX_0026 | c.49A>T | p.Arg17* | PHEX | SNV | Nonsense | Pathogenic | <5 | Gait Abnormalities | 34806794 | Exon 1 |
PHEX_0982 | c.51_52dup | p.Gly18Glufs*15 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | abnormal bone development, pectus carinatum, bowed or bent leg | 32253725 | Exon 1 |
PHEX_0027 | c.58C>T | p.Arg20* | PHEX | SNV | Nonsense | Pathogenic | 11-20 | Other Musculoskeletal Abnormalities, Short Stature, Lower limb deformities, Lowe.... | 10439971, 9199930, 11502829, 23079138, 20157195, 16055933, 21050253, 15057978, 24857004, 9097956, 16636593, 24926462, 25894638, 18162710, 30599486, 10874297, 34141703, 34806794 | Exon 1 |
PHEX_0028 | c.64G>T | p.Ala22Ser | PHEX | SNV | Missense | Uncertain Significance | <5 | Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 23079138, 24926462, 18162710, 30599486, 34806794 | Exon 1 |
PHEX_0029 | c.67_74del | p.Leu23Valfs*25 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 34806794 | Exon 1 |
PHEX_0030 | c.68del | p.Leu23Argfs*9 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 34806794 | Exon 1 |
PHEX_0032 | c.77_78del | p.Phe26Cysfs*24 | PHEX | Small deletion | Frameshift | Pathogenic | 5-10 | Other Musculoskeletal Abnormalities | 30607568, 33639975, 21902834, 34806794 | Exon 1 |
PHEX_0033 | c.82G>A | p.Gly28Ser | PHEX | SNV | Missense | Likely Benign | <5 | | 19513579, 34806794 | Exon 1 |
PHEX_0034 | c.83del | p.Gly28Valfs*4 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Gait Abnormalities | 34806794 | Exon 1 |
PHEX_0035 | c.117del | p.Val40* | PHEX | Small deletion | Nonsense | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 19219621, 34806794 | Exon 1 - 2 |
PHEX_0037 | c.118+1G>A | p.? | PHEX | Splicing | Splice donor | Pathogenic | 5-10 | Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries | 16636593, 25031893, 15057978, 34141703, 34806794 | Intron 1 |
PHEX_0038 | c.118+1G>T | Splice donor | PHEX | Splicing | Splice donor | Pathogenic | <5 | | 34806794 | Intron 1 |
PHEX_0036 | c.118+2del | Splice donor | PHEX | Splicing | Splice donor | Likely Pathogenic | <5 | | 34806794 | Intron 1 |
PHEX_0816 | c.118+2T>G | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | | 33639975, 34806794 | Intron 1 |
PHEX_0983 | c.118+951C>T | p.? | PHEX | Splicing | Intronic | Benign | <5 | | 19581284 | Intron 1 |
PHEX_0984 | c.118+2130T>A | p.? | PHEX | Splicing | Intronic | Uncertain Significance | <5 | | 19581284 | Intron 1 |
PHEX_0985 | c.119-455C>T | p.? | PHEX | Splicing | Intronic | Benign | <5 | | 22666411 | Intron 1 |
PHEX_0043 | c.119-1G>A | Splice acceptor | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | | 16636593, 7550339, 34806794 | Intron 1 |
PHEX_0041 | c.119-1G>C | Splice acceptor | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | | 16636593, 7550339, 34806794 | Intron 1 |
PHEX_0039 | c.119-?_187+?del | Deletion (Exon 2) | PHEX | CNV | Deletion | Likely Pathogenic | <5 | | 32329911, 34806794 | Exon 2 |
PHEX_0042 | c.119-?_*3357+?dup | Gain (Exons 2-22) | PHEX | CNV | Duplication | Uncertain Significance | <5 | | 34806794 | Intron 1 |
PHEX_0044 | c.124del | p.Gln42Lysfs*4 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Gait Abnormalities, Lower Limb Deformities | 34806794 | Exon 2 |
PHEX_0045 | c.133_134del | p.Leu45Lysfs*5 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 23813354, 34806794 | Exon 2 |
PHEX_1116 | c.134_135ins? | p.Leu45fs | PHEX | Small insertion | | Pathogenic | <5 | | | Exon 2 |
PHEX_0047 | c.134T>A | p.Leu45* | PHEX | SNV | Nonsense | Pathogenic | <5 | Lower Limb Deformities | 34806794 | Exon 2 |
PHEX_0046 | c.134T>G | p.Leu45* | PHEX | SNV | Nonsense | Pathogenic | <5 | Gait Abnormalities, Lower Limb Deformities | 34806794 | Exon 2 |
PHEX_0048 | c.142C>T | p.Gln48* | PHEX | SNV | Nonsense | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 25839938, 19219621, 34806794 | Exon 2 |
PHEX_0049 | c.148A>T | p.Lys50* | PHEX | SNV | Nonsense | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries | 25839938, 22527485, 34806794 | Exon 2 |
PHEX_0050 | c.151C>T | p.Gln51* | PHEX | SNV | Nonsense | Pathogenic | 5-10 | Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 25839938, 11502829, 31485552, 9097956, 16636593, 34806794 | Exon 2 |
PHEX_0051 | c.154G>T | p.Glu52* | PHEX | SNV | Nonsense | Pathogenic | <5 | Lower Limb Deformities | 28383812, 34806794 | Exon 2 |
PHEX_0052 | c.159C>A | p.Tyr53* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34806794 | Exon 2 |
PHEX_0986 | c.160del | p.Cys54Alafs*2 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 32253725 | Exon 2 |
PHEX_0987 | c.161dup | p.Cys54Trpfs*16 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscess.... | | Exon 2 |
PHEX_0053 | c.162C>A | p.Cys54* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 30682568, 34806794 | Exon 2 |
PHEX_0054 | c.166A>T | p.Lys56* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34806794 | Exon 2 |
PHEX_0055 | c.174del | p.Glu58Aspfs*10 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | bowed or bent legs | 32329911, 34806794 | Exon 2 |
PHEX_0056 | c.176G>C | p.Cys59Ser | PHEX | SNV | Missense | Likely Pathogenic | <5 | Lower Limb Deformities | 19513579, 34806794 | Exon 2 |
PHEX_0057 | c.177C>A | p.Cys59* | PHEX | SNV | Nonsense | Pathogenic | <5 | Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries | 34806794 | Exon 2 |
PHEX_0058 | c.179_436del | p.Ile60_Glu145del | PHEX | CNV | Deletion | Likely Pathogenic | <5 | | 16636593, 34806794 | Exons 2-4 |
PHEX_0059 | c.181G>T | p.Glu61* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 21994957, 34806794 | Exon 2 |
PHEX_0060 | c.185C>T | p.Ala62Val | PHEX | Splicing | Intronic | Uncertain Significance | <5 | Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate | 34806794 | Exon 2 |
PHEX_0061 | c.187del | p.Ala63Leufs*5 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 22577109, 34806794 | Exons 2-3 |
PHEX_0988 | c.187+1G>C | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | | 34141703 | Intron 2 |
PHEX_0063 | c.187+1G>T | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | Lower Limb Deformities | 16636593, 29505567, 10439971, 34806794 | Intron 2 |
PHEX_0062 | c.187+2T>A | Splice donor | PHEX | Splicing | Splice donor | Likely Pathogenic | <5 | Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 34806794 | Intron 2 |
PHEX_0989 | c.187+3_187+6del | Intronic | PHEX | Small deletion | Splice donor | Uncertain Significance | <5 | Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature | | Intron 2 |
PHEX_0990 | c.187+354C>T | p.? | PHEX | Splicing | Intronic | Benign | <5 | | 19581284 | Intron 2 |
PHEX_0991 | c.187+416G>A | p.? | PHEX | Splicing | Intronic | Benign | <5 | | 19581284 | Intron 2 |
PHEX_0992 | c.187+491G>A | p.? | PHEX | Splicing | Intronic | Uncertain Significance | <5 | | 19581284 | Intron 2 |
PHEX_0993 | c.188-3779C>G | p.? | PHEX | Splicing | Intronic | Uncertain Significance | <5 | | 19581284 | Intron 2 |
PHEX_0994 | c.188-3425G>A | p.? | PHEX | Splicing | Intronic | Benign | <5 | | 19581284 | Intron 2 |
PHEX_0995 | c.188-3319T>C | p.? | PHEX | Splicing | Intronic | Benign | <5 | | 19581284 | Intron 2 |
PHEX_0069 | c.188-47C>T | p.? | PHEX | Splicing | Intronic | Benign | <5 | | 19219621, 34806794 | Intron 2 |
PHEX_0067 | c.188-1G>A | Splice acceptor | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | Lower limb deformities, Reduced Serum Phosphate | 34806794 | Intron 2 |
PHEX_0066 | c.188-1G>C | p.? | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 11502829, 34806794 | Intron 2 |
PHEX_0064 | c.188-?_349+?del | Deletion (Exon 3) | PHEX | CNV | Deletion | Pathogenic | <5 | Fractures/Pseudo-Fractures, Lower Limb Deformities, Gait abnormalities, Lower limb deformities, abnormal bone development, short stature | 23079138, 24926462, 21902834, 34806794 | Exon 3 |
PHEX_0065 | c.188-?_349+?dup | Gain (Exon 3) | PHEX | CNV | Duplication | Uncertain Significance | <5 | | 21902834, 34806794 | Exon 3 |
PHEX_0817 | c.188-?_1302+?dup | Gain (Exons 3-11) | PHEX | CNV | Duplication | Pathogenic | <5 | | 34806794 | Intron 2 |
PHEX_0070 | c.188-?_1404+?dup | Gain (Exons 3-12) | PHEX | CNV | Duplication | Likely Pathogenic | <5 | | 34806794 | Intron 2 |
PHEX_0071 | c.200T>G | p.Leu67* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 16636593, 34806794 | Exon 3 |
PHEX_0073 | c.201_202dup | p.Ser68Lysfs*4 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 34806794 | Exon 3 |
PHEX_0996 | c.202dup | p.Ser68Lysfs*2 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | Fractures/pseudo-fractures, Short Stature | | Exon 3 |
PHEX_0074 | c.204del | p.Ser68Argfs*3 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 34806794 | Exon 3 |
PHEX_0075 | c.204dup | p.Lys69* | PHEX | Small insertion | Nonsense | Pathogenic | <5 | | 30607568, 33639975, 34806794 | Exon 3 |
PHEX_0076 | c.208_212del | p.Val70Serfs*7 | PHEX | Small deletion | Frameshift | Pathogenic | 5-10 | Gait Abnormalities, Lower Limb Deformities, abnormal bone development, bowed or bent leg, short stature | 26377240, 16636593, 33639975, 15057978, 9097956, 30607568, 32253725, 34806794 | Exon 3 |
PHEX_0077 | c.212A>C | p.Asn71Thr | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 21050253, 34806794 | Exon 3 |
PHEX_0078 | c.212A>T | p.Asn71Ile | PHEX | SNV | Missense | Likely Pathogenic | 5-10 | Short Stature, Other Musculoskeletal Abnormalities | 30607568, 33639975, 21902834, 34806794 | Exon 3 |
PHEX_0080 | c.218_221del | p.Ser73Trpfs*16 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 34806794 | Exon 3 |
PHEX_0082 | c.221_222del | p.Val74Glyfs*4 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 22577109, 34806794 | Exon 3 |
PHEX_1102 | c.221del | p.Val74Glyfs*16 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 34141703 | Exon 3 |
PHEX_0083 | c.227_238dup | p.Asn79_Phe80insSerCysAspAsn | PHEX | Small duplication | Insertion | Pathogenic | <5 | | 34806794 | Exon 3 |
PHEX_0997 | c.227_240del | p.Pro76Leufs*6 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | | Exon 3 |
PHEX_0084 | c.229T>A | p.Cys77Ser | PHEX | SNV | Missense | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 26051471, 34806794 | Exon 3 |
PHEX_0998 | c.229T>C | p.Cys77Arg | PHEX | SNV | Missense | Likely Pathogenic | <5 | short stature, genu varum, teeth falling out | 34141703, 27840894 | Exon 3 |
PHEX_0086 | c.230G>A | p.Cys77Tyr | PHEX | SNV | Missense | Likely Pathogenic | <5 | bowed or bent legs | 32329911, 34806794 | Exon 3 |
PHEX_0085 | c.230G>C | p.Cys77Ser | PHEX | SNV | Missense | Pathogenic | <5 | Hearing Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities, Gait .... | 16636593, 19219621, 9097956, 10874297, 12001226, 32253725, 34806794 | Exon 3 |
PHEX_0087 | c.230G>T | p.Cys77Phe | PHEX | SNV | Missense | Pathogenic | <5 | Lower Limb Deformities, Gait abnormalities, Fractures/Pseudo-Fractures | 34806794 | Exon 3 |
PHEX_0088 | c.231T>G | p.Cys77Trp | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 30682568, 34806794 | Exon 3 |
PHEX_0089 | c.239T>C | p.Phe80Ser | PHEX | SNV | Missense | Pathogenic | <5 | | 17710565, 12001226, 34806794 | Exon 3 |
PHEX_0091 | c.241T>C | p.Phe81Leu | PHEX | SNV | Missense | Uncertain Significance | <5 | | 34806794 | Exon 3 |
PHEX_0092 | c.242T>C | p.Phe81Ser | PHEX | SNV | Missense | Likely Pathogenic | <5 | Other Musculoskeletal Abnormalities | 10439971, 23079138, 16636593, 24926462, 17710565, 34806794 | Exon 3 |
PHEX_0093 | c.250G>C | p.Ala84Pro | PHEX | SNV | Missense | Uncertain Significance | <5 | | 34806794 | Exon 3 |
PHEX_0094 | c.251C>A | p.Ala84Asp | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 25042154, 34806794 | Exon 3 |
PHEX_0095 | c.253T>C | p.Cys85Arg | PHEX | SNV | Missense | Pathogenic | <5 | | 9199930, 11468271, 16636593, 12727977, 14992683, 15470265, 12001226, 19513579, 17710565, 10874297, 25894638, 18046499, 12111239, 34806794 | Exon 3 |
PHEX_0096 | c.254G>A | p.Cys85Tyr | PHEX | SNV | Missense | Pathogenic | 5-10 | Lower Limb Deformities | 11502829, 30682568, 9106524, 16636593, 10874297, 12001226, 34806794 | Exon 3 |
PHEX_0098 | c.254G>C | p.Cys85Ser | PHEX | SNV | Missense | Pathogenic | <5 | bowed or bent legs, Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature | 30682568, 32329911, 34806794 | Exon 3 |
PHEX_0097 | c.254G>T | p.Cys85Phe | PHEX | SNV | Missense | Likely Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 16636593, 19219621, 10874297, 12001226, 34806794 | Exon 3 |
PHEX_0999 | c.255T>A | p.Cys85* | PHEX | SNV | Nonsense | Pathogenic | <5 | Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature | | Exon 3 |
PHEX_0099 | c.263G>A | p.Trp88* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34806794 | Exon 3 |
PHEX_0100 | c.264del | p.Trp88* | PHEX | Small deletion | Nonsense | Pathogenic | 5-10 | | 23813354, 21293852, 18046499, 24857004, 34806794 | Exon 3 |
PHEX_0101 | c.275_280delinsT | p.Asn92Ilefs*17 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | | 34806794 | Exon 3 |
PHEX_0102 | c.288A>G | p.Glu96= | PHEX | SNV | Synonymous | Likely Benign | <5 | | 18625346, 34806794 | Exon 3 |
PHEX_0103 | c.288del | p.Asp97Ilefs*11 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 34806794 | Exon 3 |
PHEX_0104 | c.289_349+836delinsAAGATATGCCT | Splice Donor | PHEX | Splicing | Splice donor | Likely Pathogenic | <5 | Gait Abnormalities, Lower Limb Deformities | 34806794 | Exon 3 |
PHEX_0105 | c.294_295insAAGAG | p.Pro99Lysfs*11 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 19219621, 34806794 | Exon 3 |
PHEX_0106 | c.304G>A | p.Gly102Arg | PHEX | SNV | Missense | Pathogenic | 11-20 | bowed or bent legs, short stature, Lower Limb Deformities, Tooth Abscesses and/o.... | 29901142, 34141703, 27840894, 34806794 | Exon 3 |
PHEX_1000 | c.304G>T | p.Gly102Trp | PHEX | SNV | Missense | Likely Pathogenic | <5 | Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Lower limb deformities, Short Stature, | | Exon 3 |
PHEX_0107 | c.307del | p.Val103Phefs*5 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Fractures/Pseudo-Fractures, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 34806794 | Exon 3 |
PHEX_0818 | c.310del | p.Tyr104Ilefs*4 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 32329911, 34806794 | Exon 3 |
PHEX_1001 | c.316del | p.Trp106Glyfs*2 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature | | Exon 3 |
PHEX_0108 | c.318G>A | p.Trp106* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34806794 | Exon 3 |
PHEX_0819 | c.325_326dup | p.Asn110Ilefs*7 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 33295632, 34806794 | Exon 3 |
PHEX_0109 | c.327del | p.His109Glnfs*7 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 9768674, 16636593, 34806794 | Exon 3 |
PHEX_0079 | c.328_330del | p.Asn110del | PHEX | CNV | Deletion | Likely Pathogenic | <5 | | 20157195, 18625346, 34806794 | Exon 3 |
PHEX_0111 | c.329_330insC | p.Val111Cysfs*2 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | | 9768674, 34806794 | Exon 3 |
PHEX_0112 | c.332_334del | p.Val111del | PHEX | Small deletion | Deletion | Likely Pathogenic | <5 | | 34806794 | Exon 3 |
PHEX_0820 | c.349+1G>A | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | | 16636593, 34806794 | Intron 3 |
PHEX_0114 | c.349+1G>C | Splice donor | PHEX | Splicing | Splice donor | Likely Pathogenic | <5 | | 34806794 | Intron 3 |
PHEX_0821 | c.349+1G>T | Splice donor | PHEX | Splicing | Splice donor | Pathogenic | <5 | Lower limb deformities | 34806794 | Intron 3 |
PHEX_0115 | c.349+2del | Splice donor | PHEX | Splicing | Splice donor | Pathogenic | <5 | | 34806794 | Intron 3 |
PHEX_0116 | c.349+2T>C | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 19219621, 34141703, 34806794 | Intron 3 |
PHEX_1002 | c.350-14216G>A | p.? | PHEX | Splicing | Intronic | Benign | <5 | | 21618345 | Intron 3 |
PHEX_0126 | c.350-2A>G | p.? | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 26051471, 29460029, 34806794 | Intron 3 |
PHEX_0120 | c.350-1G>A | p.? | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | | 22577109, 34806794 | Intron 3 |
PHEX_1003 | c.350-1G>C | Splice acceptor | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | | | Intron 3 |
PHEX_0125 | c.350-1G>T | p.? | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 22101457, 29460029, 19219621, 34806794 | Intron 3 |
PHEX_0127 | c.350-?_436+?del | Deletion (Exon 4) | PHEX | CNV | Deletion | Pathogenic | <5 | Fractures/Pseudo-Fractures, Lower Limb Deformities, abnormal bone development, bowed or bent leg, short stature | 32253725, 34806794 | Intron 3 |
PHEX_0122 | c.350-?_663+?del | Deletion (Exons 4-5) | PHEX | CNV | Deletion | Pathogenic | <5 | | 16636593, 9199930, 34806794 | Exons 4-5 |
PHEX_0119 | c.350-?_732+?del | Deletion (Exons 4-6) | PHEX | CNV | Deletion | Pathogenic | <5 | | 34806794 | Intron 3 |
PHEX_1117 | c.350-?_933+?dup | Gain (Exons 4-8) | PHEX | Duplication | | Pathogenic | <5 | Lower limb deformities, Short Stature | | Intron 3 |
PHEX_1118 | c.350-?_1079+?dup | Gain (Exons 4-9) | PHEX | Duplication | | Likely Pathogenic | <5 | Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short Stature | | Intron 3 |
PHEX_0124 | c.350-?_1404+?del | Deletion (Exons 4-12) | PHEX | CNV | Deletion | Pathogenic | <5 | abnormal bone development, bowed or bent leg, short stature | 32253725, 34806794 | Intron 3 |
PHEX_0128 | c.350-?_1899+?del | Deletion (Exons 4-18) | PHEX | CNV | Deletion | Uncertain Significance | <5 | | 22695891, 34806794 | Exons 4-18 |
PHEX_0822 | c.350-?_2070+?del | Deletion (Exon 4-20) | PHEX | CNV | Deletion | Likely Pathogenic | <5 | bowed or bent legs | 19513579, 34806794 | Intron 3 |
PHEX_0118 | c.350-?_*3357+?del | Deletion (Exons 4-22) | PHEX | CNV | Deletion | Pathogenic | <5 | | 34806794 | Intron 3 |
PHEX_0129 | c.361A>T | p.Lys121* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34806794 | Exon 4 |
PHEX_0113 | c.388G>T | p.Glu130* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 30075510, 34806794 | Exon 4 |
PHEX_0130 | c.395_398dup | p.Gln133Hisfs*14 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | nephrocalcinosis | 24926462, 23079138, 21902834, 34806794 | Exon 4 |
PHEX_0131 | c.397C>T | p.Gln133* | PHEX | SNV | Nonsense | Pathogenic | 5-10 | Gait Abnormalities, Nervous System, Lower Limb Deformities | 21050253, 18057152, 34806794 | Exon 4 |
PHEX_0132 | c.401_402insGCCAAA | p.Lys134_Ala135insProLys | PHEX | Small insertion | Insertion | Likely Pathogenic | <5 | Lower Limb Deformities | 28383812, 34806794 | Exon 4 |
PHEX_1004 | c.402del | p.Ala135Profs*9 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 34141703 | Exon 4 |
PHEX_0133 | c.404C>A | p.Ala135Asp | PHEX | SNV | Missense | Uncertain Significance | <5 | | 34806794 | Exon 4 |
PHEX_0823 | c.409dup | p.Ile137Asnfs*9 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 34806794 | Exon 4 |
PHEX_1103 | c.411_414del | p.Leu138Ilefs*5 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 34141703 | Exon 4 |
PHEX_0134 | c.412del | p.Leu138Phefs*6 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Short Stature, Lower Limb Deformities | 24229582, 16636593, 15057978, 24857004, 34806794 | Exon 4 |
PHEX_1005 | c.413_419dup | p.Ser141Leufs*7 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | | | Exon 4 |
PHEX_0135 | c.413T>C | p.Leu138Pro | PHEX | SNV | Missense | Likely Pathogenic | 5-10 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 10439971, 27884786, 23079138, 9097956, 16636593, 24926462, 19219621, 10874297, 34806794 | Exon 4 |
PHEX_0136 | c.415del | p.Tyr139Ilefs*5 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 19219621, 34806794 | Exon 4 |
PHEX_0137 | c.416A>G | p.Tyr139Cys | PHEX | SNV | Missense | Pathogenic | <5 | Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 34806794 | Exon 4 |
PHEX_0138 | c.418T>C | p.Ser140Pro | PHEX | SNV | Missense | Pathogenic | <5 | | 34806794 | Exon 4 |
PHEX_0139 | c.419C>G | p.Ser140* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34806794 | Exon 4 |
PHEX_0140 | c.421T>C | p.Ser141Pro | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 16636593, 26894575, 34806794 | Exon 4 |
PHEX_0141 | c.422C>T | p.Ser141Phe | PHEX | SNV | Missense | Likely Pathogenic | 5-10 | Short Stature, Lower Limb Deformities | 26894575, 34806794 | Exon 4 |
PHEX_0142 | c.423del | p.Cys142Alafs*2 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 34806794 | Exon 4 |
PHEX_0143 | c.424T>C | p.Cys142Arg | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 25086671, 34806794 | Exon 4 |
PHEX_0145 | c.425G>C | p.Cys142Ser | PHEX | SNV | Missense | Uncertain Significance | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities, abnormal bone development, pectus carinatum, bowed or bent leg | 10439971, 16636593, 32253725, 34806794 | Exon 4 |
PHEX_0144 | c.425G>T | p.Cys142Phe | PHEX | SNV | Missense | Pathogenic | <5 | Gait Abnormalities, Lower Limb Deformities | 34806794 | Exon 4 |
PHEX_0146 | c.426C>A | p.Cys142* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34806794 | Exon 4 |
PHEX_0147 | c.433G>T | p.Glu145* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 30393837, 34806794 | Exon 4 |
PHEX_1006 | c.436_436+1del | p.? | PHEX | Small deletion | Splice donor | Pathogenic | 5-10 | short stature, genu varum | 34141703, 27840894 | Exon 4, Intron 4 |
PHEX_0149 | c.436+1G>A | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | Short Stature, Lower Limb Deformities, Gait Abnormalities, Skull Deformities | 24857004, 29505567, 34806794 | Intron 4 |
PHEX_0153 | c.436+1G>C | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | stunted growth, genu varum | 18625346, 29505567, 34141703, 27840894, 34806794 | Intron 4 |
PHEX_0151 | c.436+1G>T | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | Short Stature, Lower Limb Deformities | 29460029, 29505567, 34806794 | Intron 4 |
PHEX_0156 | c.436+2T>A | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | Lower Limb Deformities, Gait Abnormalities, Gait abnormalities, Tooth Abscesses .... | 10439971, 31102713, 16636593, 34806794 | Intron 4 |
PHEX_0155 | c.436+3G>C | p.? | PHEX | Splicing | Intronic | Likely Pathogenic | <5 | Short Stature, Other Musculoskeletal Abnormalities | 31102713, 21902834, 24857004, 34806794 | Intron 4 |
PHEX_0150 | c.436+4A>C | p.? | PHEX | Splicing | Intronic | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 31102713, 19219621, 24857004, 34806794 | Intron 4 |
PHEX_0154 | c.436+4A>G | Intronic | PHEX | Splicing | Intronic | Pathogenic | <5 | | 34806794 | Intron 4 |
PHEX_0824 | c.436+4A>T | p.? | PHEX | Splicing | Intronic | Likely Pathogenic | <5 | | 33639975, 34806794 | Intron 4 |
PHEX_1007 | c.436+5_436+8del | p.? | PHEX | Small deletion | Splice donor | Uncertain Significance | <5 | | 18625346 | Intron 4 |
PHEX_0157 | c.436+5G>A | Intronic | PHEX | Splicing | Intronic | Uncertain Significance | <5 | | 34806794 | Intron 4 |
PHEX_0152 | c.436+5G>T | p.? | PHEX | Splicing | Intronic | Likely Pathogenic | <5 | | 15057978, 34806794 | Intron 4 |
PHEX_1008 | c.436+6T>A | Intronic | PHEX | Splicing | Splice donor | Likely Pathogenic | <5 | Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Lower limb deformities | | Intron 4 |
PHEX_0148 | c.436+6T>C | p.? | PHEX | Splicing | Intronic | Pathogenic | 5-10 | Muscle Pain and/or Weakness and/or Fatigue, Bone and/or Joint Pain and/or Joint .... | 18252791, 31102713, 24857004, 34806794 | Intron 4 |
PHEX_0160 | c.437-3C>G | p.? | PHEX | Splicing | Intronic | Uncertain Significance | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 31102713, 19219621, 24857004, 34806794 | Intron 4 |
PHEX_0161 | c.437-2A>C | Splice acceptor | PHEX | Splicing | Splice acceptor | Likely Pathogenic | <5 | | 34806794 | Intron 4 |
PHEX_0159 | c.437-2A>G | Splice acceptor | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 34806794 | Intron 4 |
PHEX_0162 | c.437-?_1404+?del | Deletion (Exons 5-12) | PHEX | CNV | Deletion | Pathogenic | <5 | | 34806794 | Intron 4 |
PHEX_0825 | c.444del | p.Ile148Metfs*73 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Gait abnormalities, Lower limb deformities | 34806794 | Exon 5 |
PHEX_0163 | c.455dup | p.Asp152Glufs*20 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 34806794 | Exon 5 |
PHEX_0164 | c.457dup | p.Ala153Glyfs*19 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 34806794 | Exon 5 |
PHEX_0165 | c.463C>G | p.Pro155Ala | PHEX | SNV | Missense | Uncertain Significance | <5 | | 22996961, 34806794 | Exon 5 |
PHEX_0166 | c.465_466dup | p.Leu156Hisfs*66 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities | 24926462, 30599486, 23079138, 22261628, 18162710, 34806794 | Exon 5 |
PHEX_0826 | c.468dup | p.Leu157Alafs*15 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | Lower limb deformities, Reduced Serum Phosphate | 34806794 | Exon 5 |
PHEX_0827 | c.471del | p.His158Thrfs*63 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 33639975, 34806794 | Exon 5 |
PHEX_0167 | c.479T>G | p.Leu160Arg | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 16636593, 11004247, 34806794 | Exon 5 |
PHEX_0168 | c.482G>C | p.Arg161Pro | PHEX | SNV | Missense | Likely Pathogenic | <5 | Lower Limb Deformities | 21050253, 34806794 | Exon 5 |
PHEX_0169 | c.485A>G | p.His162Arg | PHEX | SNV | Missense | Pathogenic | <5 | | 9768674, 34806794 | Exon 5 |
PHEX_1009 | c.488C>A | p.Ser163* | PHEX | SNV | Nonsense | Pathogenic | <5 | short stature, pain, dental abscesses | 33796255 | Exon 5 |
PHEX_0170 | c.489A>G | p.Ser163= | PHEX | SNV | Synonymous | Likely Pathogenic | <5 | | 9768674, 34806794 | Exon 5 |
PHEX_0171 | c.496C>T | p.Arg166Cys | PHEX | SNV | Missense | Likely Pathogenic | <5 | Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities | 10439971, 11502829, 23079138, 16636593, 24926462, 34806794 | Exon 5 |
PHEX_0172 | c.497del | p.Arg166Profs*55 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Bone and/or Joint Pain and/or Joint Stiffne.... | 30075510, 34806794 | Exon 5 |
PHEX_0173 | c.499T>C | p.Trp167Arg | PHEX | SNV | Missense | Likely Pathogenic | 5-10 | radiological signs of rickets, abnormal bone development, short stature, Lower Limb Deformities | 33639975, 34806794 | Exon 5 |
PHEX_1010 | c.501G>A | p.Trp167* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 33666701 | Exon 5 |
PHEX_0174 | c.503C>T | p.Pro168Leu | PHEX | SNV | Missense | Pathogenic | 5-10 | Gait Abnormalities, Lower Limb Deformities | 16261449, 29460029, 34806794 | Exon 5 |
PHEX_0175 | c.505G>A | p.Val169Met | PHEX | SNV | Missense | Likely Benign | 5-10 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 19219621, 34806794 | Exon 5 |
PHEX_0176 | c.508_529del | p.Leu170Lysfs*44 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 34806794 | Exon 5 |
PHEX_1011 | c.518_520delATAinsTT | p.Asn173Ilefs*48 | PHEX | Deletion/Insertion | Frameshift | Pathogenic | <5 | abnormal bone development, pectus carinatum, bowed or bent leg, short stature | 32253725 | Exon 5 |
PHEX_1012 | c.528del | p.Glu177Lysfs*44 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | genu varum | 34141703, 27840894 | Exon 5 |
PHEX_0177 | c.537T>A | p.Val179= | PHEX | SNV | Synonymous | Likely Benign | <5 | | 9768674, 34806794 | Exon 5 |
PHEX_0178 | c.538del | p.Trp180Glyfs*41 | PHEX | Small deletion | Frameshift | Pathogenic | 5-10 | | 19201216, 27884786, 19219621, 34806794 | Exon 5 |
PHEX_0179 | c.540G>A | p.Trp180* | PHEX | SNV | Nonsense | Pathogenic | <5 | Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries | 34806794 | Exon 5 |
PHEX_0180 | c.542C>G | p.Ser181* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 29460029, 34806794 | Exon 5 |
PHEX_0181 | c.547_548del | p.Arg183Lysfs*28 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 23813354, 34806794 | Exon 5 |
PHEX_1104 | c.548_549del | p.Arg183Lysfs*28 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | abnormal bone development, bowed or bent leg, short stature | 32253725 | Exon 5 |
PHEX_0182 | c.551dup | p.Phe185Valfs*27 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | Gait Abnormalities, Lower Limb Deformities | 34806794 | Exon 5 |
PHEX_0828 | c.552del | p.Lys184Asnfs*37 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Reduced Serum Phosphate, Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries | 34806794 | Exon 5 |
PHEX_0184 | c.565C>T | p.Gln189* | PHEX | SNV | Nonsense | Pathogenic | <5 | Short Stature, Other Musculoskeletal Abnormalities, pain | 16261449, 23079138, 12414858, 24926462, 21902834, 16636593, 33796255, 34806794 | Exon 5 |
PHEX_0829 | c.567_568del | p.Gln189Hisfs*22 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 29707405, 34806794 | Exon 5 |
PHEX_0183 | c.567_576del | p.Thr190Argfs*28 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 22577109, 34806794 | Exon 5 |
PHEX_1013 | c.572T>C | p.Leu191Pro | PHEX | SNV | Missense | Likely Pathogenic | <5 | short stature, pain, bowed or bent leg, dental abscesses | 32253725 | Exon 5 |
PHEX_0185 | c.574dup | p.Ala192Glyfs*20 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 34806794 | Exon 5 |
PHEX_0186 | c.589C>T | p.Gln197* | PHEX | SNV | Nonsense | Pathogenic | <5 | Short Stature, Bone Density Abnormalities, Lower Limb Deformities | 30599486, 34806794 | Exon 5 |
PHEX_0187 | c.591A>G | p.Gln197= | PHEX | SNV | Synonymous | Pathogenic | 11-20 | Other Musculoskeletal Abnormalities, Reduced_TmP/GFR_( | 21902834, 29393334, 34806794 | Exon 5 |
PHEX_0188 | c.593dup | p.Tyr198* | PHEX | Small duplication | Nonsense | Pathogenic | <5 | | 34806794 | Exon 5 |
PHEX_1105 | c.594C>A | p.Tyr198* | PHEX | SNV | Nonsense | Pathogenic | <5 | abnormal bone development, short stature | 32253725 | Exon 5 |
PHEX_0189 | c.594C>G | p.Tyr198* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 16636593, 11004247, 34806794 | Exon 5 |
PHEX_0190 | c.610_663+50del | p.? | PHEX | Small deletion | Deletion | Pathogenic | <5 | | 16636593, 9199930, 9097956, 34806794 | Exon 5, intron 5 |
PHEX_0830 | c.614G>C | p.Arg205Pro | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 29901142, 34141703, 34806794 | Exon 5 |
PHEX_0192 | c.617T>A | p.Leu206* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34806794 | Exon 5 |
PHEX_0191 | c.617T>G | p.Leu206Trp | PHEX | SNV | Missense | Likely Pathogenic | <5 | Short Stature, Lower Limb Deformities | 16636593, 21293852, 23813354, 24857004, 34806794 | Exon 5 |
PHEX_1014 | c.620_623del | p.Tyr207Cysfs*13 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 33666701 | Exon 5 |
PHEX_0193 | c.621T>A | p.Tyr207* | PHEX | SNV | Nonsense | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 19219621, 34806794 | Exon 5 |
PHEX_0194 | c.630del | p.Asp211Metfs*10 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 29460029, 34806794 | Exon 5 |
PHEX_1015 | c.637A>T | p.Lys213* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34141703 | Exon 5 |
PHEX_1016 | c.643dup | p.Ser215Phefs*3 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | | | Exon 5 |
PHEX_0195 | c.649G>T | p.Glu217* | PHEX | SNV | Nonsense | Pathogenic | <5 | Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries | 9768674, 16636593, 34806794 | Exon 5 |
PHEX_0831 | c.652_655del | p.His218Serfs*2 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 29707405, 34806794 | Exon 5 |
PHEX_0196 | c.655_656del | p.Ile219Leufs*18 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 26051471, 34806794 | Exon 5 |
PHEX_1017 | c.657_658del | p.Leu220Glufs*17 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | short stature, pectus carinatum | 32253725 | Exon 5 |
PHEX_0198 | c.663_663+12del | Intronic | PHEX | Small deletion | Splice donor | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Short Stature, Lower Limb Deformities, Skull Deformities | 25153221, 34806794 | Exon 5, Intron 5 |
PHEX_0197 | c.663_1176del | p.Leu222Serfs*15 | PHEX | CNV | Frameshift | Pathogenic | <5 | | 21050253, 34806794 | Exon 6 |
PHEX_0199 | c.663G>A | p.Lys221= | PHEX | Splicing | splice donor | Likely Pathogenic | 5-10 | Reduced Serum Phosphate, Gait Abnormalities, Lower Limb Deformities, Lower limb .... | 34806794 | Exon 5 |
PHEX_0200 | c.663+1G>A | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | Short Stature, Lower Limb Deformities, Gait Abnormalities, Gait abnormalities, L.... | 30599486, 25031893, 34806794 | Intron 5 |
PHEX_0832 | c.663+1G>T | p.? | PHEX | Splicing | Splice donor | Pathogenic | 5-10 | | 33295632, 34806794 | Intron 5 |
PHEX_0201 | c.663+2del | p.? | PHEX | Small deletion | Splice donor | Pathogenic | <5 | | 23813354, 21293852, 24857004, 34806794 | Intron 5 |
PHEX_0202 | c.663+2T>A | Splice donor | PHEX | Splicing | Splice donor | Pathogenic | <5 | Gait Abnormalities, Lower Limb Deformities | 34806794 | Intron 5 |
PHEX_0203 | c.663+2T>C | Splice donor | PHEX | Splicing | Splice donor | Pathogenic | 5-10 | Lower Limb Deformities, Gait abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities | 34806794 | Intron 5 |
PHEX_0204 | c.664-2A>C | Splice acceptor | PHEX | Splicing | Splice acceptor | Likely Pathogenic | <5 | | 34806794 | Intron 5 |
PHEX_0833 | c.664-1G>C | p.? | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | | 32329911, 34806794 | Intron 5 |
PHEX_0205 | c.664-?_732+?del | Deletion (Exon 6) | PHEX | CNV | Deletion | Pathogenic | <5 | | 9768674, 9199930, 16636593, 34806794 | Exon 6 |
PHEX_1119 | c.664-?_732+?dup | Gain (Exon 6) | PHEX | Small duplication | | Uncertain Significance | <5 | | | Exon 6 |
PHEX_1120 | c.664-?_849+?del | Deletion (Exons 6-7) | PHEX | | Deletion | UNKNOWN | <5 | | 33666701 | Exon 6 - 7 |
PHEX_0206 | c.664-?_933+?del | Deletion (Exons 6-8) | PHEX | CNV | Deletion | Pathogenic | <5 | | 34806794 | Intron 5 |
PHEX_0207 | c.664-?_1079+?del | Deletion (Exons 6-9) | PHEX | CNV | Deletion | Pathogenic | <5 | | 34806794 | Intron 5 |
PHEX_1121 | c.664-?_1302+?del | Deletion (Exons 6-11) | PHEX | | Deletion | UNKNOWN | <5 | | 34141703 | Exon 6 - 11 |
PHEX_0834 | c.665_674del | p.Leu222Glnfs*7 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 29707405, 34806794 | Exon 6 |
PHEX_0208 | c.665T>C | p.Leu222Pro | PHEX | SNV | Missense | Likely Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 19219621, 34806794 | Exon 6 |
PHEX_0209 | c.670C>T | p.Gln224* | PHEX | SNV | Nonsense | Pathogenic | 5-10 | bowed or bent legs, short stature, gait disturbance, abnormal bone development | 23079138, 32133333, 21293852, 24857004, 16636593, 24926462, 24857004, 33783172, 34806794 | Exon 6 |
PHEX_1018 | c.671_685del | p.Gln224_Ser228del | PHEX | Small deletion | Deletion | Likely Pathogenic | <5 | short stature, bowed or bent leg, abnormal bone development, joint pain, dental caries | 33907069 | Exon 6 |
PHEX_0210 | c.674del | p.Ala225Glufs*7 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 21050253, 34806794 | Exon 6 |
PHEX_0211 | c.677del | p.Thr226Asnfs*6 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 16636593, 15057978, 34806794 | Exon 6 |
PHEX_0214 | c.682_683del | p.Ser228Profs*9 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | hearing loss, renal calcification, hypothyroidism | 16636593, 9199930, 33639975, 21553362, 34806794 | Exon 6 |
PHEX_0213 | c.682dup | p.Ser228Phefs*10 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | Short Stature, Other Musculoskeletal Abnormalities | 21902834, 34806794 | Exon 6 |
PHEX_0215 | c.690C>T | p.Ala230= | PHEX | SNV | Synonymous | Uncertain Significance | <5 | Lower Limb Deformities | 11502829, 34806794 | Exon 6 |
PHEX_0216 | c.710A>G | p.Asp237Gly | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 10439971, 23079138, 16636593, 24926462, 12727977, 34806794 | Exon 6 |
PHEX_0835 | c.717_721del | p.Ser239Argfs*23 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 34806794 | Exon 6 |
PHEX_1019 | c.719del | p.Thr240Lysfs*21 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Lower limb deformities | | Exon 6 |
PHEX_0217 | c.724del | p.Ala242Profs*19 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 34806794 | Exon 6 |
PHEX_0218 | c.732+1_732+2del | p.? | PHEX | Small deletion | Splice donor | Pathogenic | <5 | Other Musculoskeletal Abnormalities, bowed or bent legs, Lower Limb Deformities, dental abscesses, abnormal bone development, short stature | 27884786, 19219621, 32253725, 34806794 | Intron 6 |
PHEX_0836 | c.732+1G>A | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | | 32329911, 34806794 | Intron 6 |
PHEX_0219 | c.732+1G>C | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | bowed or bent legs, dental caries | 32329911, 29460029, 34806794 | Intron 6 |
PHEX_0221 | c.732+1G>T | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | | 9097956, 24857004, 34806794 | Intron 6 |
PHEX_1020 | c.732+3A>T | Intronic | PHEX | Splicing | Splice donor | Uncertain Significance | <5 | Lower limb deformities, Short Stature | | Intron 6 |
PHEX_0220 | c.732+4_732+5insCA | Intronic | PHEX | Splicing | Intronic | Uncertain Significance | <5 | | 34806794 | Intron 6 |
PHEX_0223 | c.733-2A>C | Splice acceptor | PHEX | Splicing | Splice acceptor | Likely Pathogenic | <5 | | 34806794 | Intron 6 |
PHEX_1021 | c.733-2A>T | Splice acceptor | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | Gait abnormalities, Lower limb deformities, Short Stature | | Intron 6 |
PHEX_0224 | c.733-1G>A | p.? | PHEX | Splicing | Splice acceptor | Pathogenic | 5-10 | Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate | 9097956, 34806794 | Intron 6 |
PHEX_0226 | c.733-1G>C | p.? | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | | 9097956, 34806794 | Intron 6 |
PHEX_0225 | c.733-1G>T | p.? | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 19219621, 34806794 | Intron 6 |
PHEX_0222 | c.733-?_849+?del | Deletion (Exon 7) | PHEX | CNV | Deletion | Likely Pathogenic | <5 | Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 34806794 | Intron 6 |
PHEX_0837 | c.733-?_933+?del | Deletion (Exons 7-8) | PHEX | CNV | Deletion | UNKNOWN | <5 | | 27884786, 34806794 | Exons 7-8 |
PHEX_0839 | c.733-?_1079+?del | Deletion (Exons 7-9) | PHEX | CNV | Deletion | Pathogenic | <5 | Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate | 34806794 | Intron 6 |
PHEX_0838 | c.733-?_1302+?del | Deletion (Exons 7-11) | PHEX | CNV | Deletion | UNKNOWN | <5 | | 32329911, 34806794 | Exons 7-11 |
PHEX_0227 | c.735T>G | p.Tyr245* | PHEX | SNV | Nonsense | Pathogenic | <5 | genu varum, bowed or bent leg, nephrocalcinosis, renal dysfunction, hypertension | 21553362, 34806794 | Exon 7 |
PHEX_0840 | c.739del | p.Asp247Metfs*14 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 32329911, 34806794 | Exon 7 |
PHEX_0229 | c.750C>A | p.Tyr250* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 9768674, 16636593, 34806794 | Exon 7 |
PHEX_0230 | c.750C>G | p.Tyr250* | PHEX | SNV | Nonsense | Pathogenic | <5 | Short Stature, Other Musculoskeletal Abnormalities | 21902834, 34806794 | Exon 7 |
PHEX_0228 | c.750del | p.Tyr250* | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Lower Limb Deformities | 34806794 | Exon 7 |
PHEX_0231 | c.751A>T | p.Lys251* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 16261449, 34806794 | Exon 7 |
PHEX_0233 | c.755T>C | p.Phe252Ser | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 9106524, 16636593, 11502829, 34806794 | Exon 7 |
PHEX_1130 | c.? | p.Met253Ile | PHEX | | Missense | Likely Pathogenic | <5 | | 11502829 | Exon 7 |
PHEX_0232 | c.759G>A | p.Met253Ile | PHEX | SNV | Missense | Pathogenic | <5 | | 16636593, 9106524, 34806794 | Exon 7 |
PHEX_0236 | c.763_784dup | p.Ala262Glyfs*9 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 34806794 | Exon 7 |
PHEX_0238 | c.766_767dup | p.Ala257Leufs*5 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 34806794 | Exon 7 |
PHEX_0237 | c.766A>C | p.Thr256Pro | PHEX | SNV | Missense | Uncertain Significance | <5 | | 34806794 | Exon 7 |
PHEX_0841 | c.767_768del | p.Thr256Serfs*7 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 32897287, 34806794 | Exon 7 |
PHEX_0240 | c.779T>G | p.Leu260* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34806794 | Exon 7 |
PHEX_0241 | c.784G>C | p.Ala262Pro | PHEX | SNV | Missense | Likely Pathogenic | <5 | Other Musculoskeletal Abnormalities | 24926462, 23079138, 21902834, 34806794 | Exon 7 |
PHEX_0242 | c.800C>A | p.Ala267Glu | PHEX | SNV | Missense | Pathogenic | <5 | | 34806794 | Exon 7 |
PHEX_1022 | c.812T>G | p.Met271Arg | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 34141703 | Exon 7 |
PHEX_0243 | c.814A>T | p.Lys272* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34806794 | Exon 7 |
PHEX_0244 | c.819_845del | p.Val274_Ala282del | PHEX | Small deletion | Deletion | Uncertain Significance | <5 | | 34806794 | Exon 7 |
PHEX_0245 | c.824T>C | p.Leu275Pro | PHEX | SNV | Missense | Likely Pathogenic | <5 | Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities, stunted growth, genu varum, teeth falling out | 34141703, 27840894, 34806794 | Exon 7 |
PHEX_0246 | c.830T>A | p.Leu277* | PHEX | SNV | Nonsense | Pathogenic | <5 | Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 11502829, 23079138, 9106524, 16636593, 24926462, 34806794 | Exon 7 |
PHEX_0247 | c.832G>A | p.Glu278Lys | PHEX | SNV | Missense | Likely Pathogenic | <5 | Skull Deformities, Lower Limb Deformities | 29610183, 34806794 | Exon 7 |
PHEX_0248 | c.832G>T | p.Glu278* | PHEX | SNV | Nonsense | Pathogenic | <5 | Other Musculoskeletal Abnormalities | 10439971, 23079138, 16636593, 24926462, 34806794 | Exon 7 |
PHEX_0249 | c.840_849+1del | | PHEX | Splicing | Splice donor | Pathogenic | <5 | | 34806794 | Exon 7 |
PHEX_0250 | c.842T>A | p.Ile281Lys | PHEX | SNV | Missense | Pathogenic | <5 | bowed or bent legs | 26377240, 32329911, 34806794 | Exon 7 |
PHEX_0251 | c.845C>A | p.Ala282Asp | PHEX | SNV | Missense | Uncertain Significance | <5 | | 34806794 | Exon 7 |
PHEX_0252 | c.847_849+2del | | PHEX | Splicing | Splice donor | Pathogenic | <5 | | 34806794 | Exon 7 |
PHEX_0256 | c.849+1G>A | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | | 16636593, 12414858, 24857004, 20578943, 34806794 | Intron 7 |
PHEX_1023 | c.849+1G>C | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | stunted growth, pectus carinatum, abnormal bone development | 34141703, 27840894 | Intron 7 |
PHEX_0254 | c.849+1G>T | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 9097956, 21050253, 16636593, 19219621, 34806794 | Intron 7 |
PHEX_0842 | c.849+3A>G | p.? | PHEX | Splicing | Intronic | Uncertain Significance | <5 | | 33295632, 34806794 | Intron 7 |
PHEX_0255 | c.849+6_849+7insT | p.? | PHEX | Small insertion | Intronic | Uncertain Significance | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 19219621, 34806794 | Intron 7 |
PHEX_1024 | c.849+128G>A | p.? | PHEX | Splicing | Intronic | Benign | <5 | | 19219621 | Intron 7 |
PHEX_0253 | c.849+1268G>T | p.? | PHEX | Splicing | Intronic | Uncertain Significance | <5 | Short Stature, Other Musculoskeletal Abnormalities, Lower Limb Deformities | 11502821, 34806794 | Intron 7 |
PHEX_0261 | c.850-15_853delinsTCTCTTGG | | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | | 34806794 | Intron 7 |
PHEX_0260 | c.850-3C>G | p.? | PHEX | Splicing | Intronic | Pathogenic | <5 | | 31102713, 16636593, 34806794 | Intron 7 |
PHEX_0257 | c.850-2A>G | Splice acceptor | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | | 34806794 | Intron 7 |
PHEX_0258 | c.850-?_933+?del | Deletion (Exon 8) | PHEX | CNV | Deletion | Likely Pathogenic | <5 | Gait Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities | 34806794 | Intron 7 |
PHEX_0262 | c.850-?_1079+?del | Deletion (Exons 8-9) | PHEX | CNV | Deletion | Pathogenic | <5 | | 34806794 | Intron 7 |
PHEX_0259 | c.850del | p.Ile284* | PHEX | Small deletion | Nonsense | Pathogenic | <5 | | 22101457, 29460029, 34806794 | Exon 8 |
PHEX_0843 | c.853dup | p.Met285Asnfs*5 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | Reduced_TmP/GFR_(34806794 | Exon 8 | |
PHEX_0263 | c.871C>T | p.Arg291* | PHEX | SNV | Nonsense | Pathogenic | 30+ | Other Musculoskeletal Abnormalities, Short Stature, Cardio Vascular Disease, Low.... | 10439971, 9199930, 33358363, 30607568, 23466123, 29460029, 9768674, 32133333, 33639975, 32329911, 11502829, 26040324, 28506344, 11004247, 19219621, 33295632, 29707405, 16636593, 33537138, 22161748, 10874297, 34141703, 27840894, 34806794 | Exon 8 |
PHEX_0844 | c.874dup | p.Thr292Asnfs*13 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate | 34806794 | Exon 8 |
PHEX_0264 | c.883del | p.Ala295Profs*6 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 34806794 | Exon 8 |
PHEX_0265 | c.888_890delinsC | p.Tyr297* | PHEX | Small insertion | Nonsense | Pathogenic | <5 | | 30607568, 34806794 | Exon 8 |
PHEX_0267 | c.888delinsAT | p.Met296Ilefs*9 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 34806794 | Exon 8 |
PHEX_0845 | c.891C>A | p.Tyr297* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 33639975, 34806794 | Exon 8 |
PHEX_0268 | c.891C>G | p.Tyr297* | PHEX | SNV | Nonsense | Pathogenic | <5 | Gait Abnormalities, Lower Limb Deformities | 34806794 | Exon 8 |
PHEX_1025 | c.895A>T | p.Lys299* | PHEX | SNV | Nonsense | Pathogenic | <5 | | | Exon 8 |
PHEX_0269 | c.897_898del | p.Lys299Asnfs*5 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Other Musculoskeletal Abnormalities, radiological signs of rickets, abnormal dental development, Short Stature, short stature | 33639975, 21902834, 34806794 | Exon 8 |
PHEX_0270 | c.898del | p.Met300* | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Gait Abnormalities, Lower limb deformities, Lower Limb Deformities | 34806794 | Exon 8 |
PHEX_0846 | c.899_900del | p.Met300Lysfs*4 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 33295632, 34806794 | Exon 8 |
PHEX_0271 | c.904A>G | p.Ile302Val | PHEX | SNV | Missense | Pathogenic | <5 | | 34806794 | Exon 8 |
PHEX_1026 | c.907del | p.Ser303Leufs*3 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Gait abnormalities, Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short Stature | | Exon 8 |
PHEX_0272 | c.907T>A | p.Ser303Thr | PHEX | SNV | Missense | Uncertain Significance | <5 | | 30607568, 34806794 | Exon 8 |
PHEX_0273 | c.914T>C | p.Leu305Pro | PHEX | SNV | Missense | Likely Pathogenic | <5 | Cardio Vascular Disease, Lower Limb Deformities, Kidney Disease, Thyroid | 18775977, 34806794 | Exon 8 |
PHEX_1027 | c.917del | p.Ser306Metfs*3 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 34141703 | Exon 8 |
PHEX_0274 | c.924_927dup | p.Pro310Aspfs*15 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries | 34806794 | Exon 8 |
PHEX_1106 | c.927del | p.Gln311Serfs*20 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | abnormal bone development, bowed or bent leg, short stature | 32253725 | Exon 8 |
PHEX_0275 | c.931C>T | p.Gln311* | PHEX | SNV | Nonsense | Pathogenic | 5-10 | Other Musculoskeletal Abnormalities, Lower Limb Deformities, Bone and/or joint pain and/or joint stiffness, Short Stature, stunted growth, genu varum | 9097956, 16636593, 28506344, 19219621, 22161748, 34141703, 27840894, 34806794 | Exon 8 |
PHEX_1107 | c.931del | p.Gln311Serfs*20 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 34141703 | Exon 8 |
PHEX_0847 | c.931dup | p.Gln311Profs*13 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 28506344, 34806794 | Exon 8 |
PHEX_0276 | c.933+1G>A | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscess.... | 30682568, 34806794 | Intron 8 |
PHEX_1028 | c.933+1G>C | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | abnormal bone development, pectus carinatum, bowed or bent leg, short stature | 32253725 | Intron 8 |
PHEX_0266 | c.933+1G>T | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | Bone and/or joint pain and/or joint stiffness, Lower limb deformities | 9199930, 34806794 | Intron 8 |
PHEX_0279 | c.933+2T>A | Splice donor | PHEX | Splicing | Frameshift | Pathogenic | <5 | | 34806794 | Intron 8 |
PHEX_0278 | c.934-16_934-12delinsCTACCTAACTGAGAT | Intronic | PHEX | Splicing | Intronic | Uncertain Significance | <5 | Gait Abnormalities, Lower Limb Deformities | 34806794 | Intron 8 |
PHEX_1029 | c.934-12_936del | p.? | PHEX | Small deletion | Splice acceptor | Likely Pathogenic | <5 | abnormal bone development, pectus carinatum, bowed or bent leg, short stature | 32253725 | Exon 9, Intron 8 |
PHEX_0277 | c.934-2A>G | Splice acceptor | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | | 9768674, 16636593, 34806794 | Intron 8 |
PHEX_0283 | c.934-1_937dup | p.Asp313Glyfs*20 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | | 16636593, 34806794 | Intron 8, exon 9 |
PHEX_1030 | c.934-1G>A | p.? | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | bowed or bent legs, short stature | 28509123 | Intron 8 |
PHEX_0282 | c.934-1G>T | p.? | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | Short Stature, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries | 24926462, 30599486, 34806794 | Intron 8 |
PHEX_0281 | c.934-?_1079+?del | Deletion (Exon 9) | PHEX | CNV | Deletion | Pathogenic | <5 | | 9199930, 34806794 | Intron 8 |
PHEX_0280 | c.934-?_*3357+?del | Deletion (Exons 9-22) | PHEX | CNV | Deletion | Pathogenic | <5 | | 34806794 | Intron 8 |
PHEX_1131 | c.? | p.Trp314Arg | PHEX | | Missense | Likely Pathogenic | <5 | | 22161748 | Exon 9 |
PHEX_1108 | c.940T>C | p.Trp314Arg | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 34141703 | Exon 9 |
PHEX_0284 | c.941G>A | p.Trp314* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34806794 | Exon 9 |
PHEX_0287 | c.? | p.Trp314* | PHEX | SNV | Nonsense | Pathogenic | <5 | Lower Limb Deformities | 11502829, 34806794 | Exon 9 |
PHEX_0286 | c.942G>A | p.Trp314* | PHEX | SNV | Nonsense | Pathogenic | <5 | Lower Limb Deformities, Gait abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities | 16636593, 34806794 | Exon 9 |
PHEX_1031 | c.943_946del | p.Leu315Alafs*15 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | | Exon 9 |
PHEX_0288 | c.947G>T | p.Gly316Val | PHEX | SNV | Missense | Uncertain Significance | <5 | Short Stature, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Bone Density Abnormalities | 25861491, 34806794 | Exon 9 |
PHEX_0848 | c.949T>A | p.Tyr317Asn | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 32329911, 34806794 | Exon 9 |
PHEX_0289 | c.950A>T | p.Tyr317Phe | PHEX | SNV | Missense | Likely Pathogenic | <5 | Lower Limb Deformities | 9768674, 16636593, 12727977, 22161748, 25861491, 21604088, 22713460, 10439971, 34806794 | Exon 9 |
PHEX_0290 | c.956dup | p.Lys320Glufs*4 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 34806794 | Exon 9 |
PHEX_0291 | c.958_960del | p.Lys320del | PHEX | Small deletion | Deletion | Uncertain Significance | <5 | Gait Abnormalities, Lower Limb Deformities | 26377240, 22695891, 34806794 | Exon 9 |
PHEX_0292 | c.961_962insAGTTACTG | p.Val321Glufs*13 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | | 16636593, 9097956, 34806794 | Exon 9 |
PHEX_0293 | c.962ins8 | Frameshift | PHEX | Small insertion | Frameshift | Pathogenic | <5 | | 9768674, 34806794 | Exon 9 |
PHEX_0295 | c.978_979dup | p.Tyr327Serfs*5 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 19219621, 34806794 | Exon 9 |
PHEX_0296 | c.979_983dup | p.His329Thrfs*4 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | Short Stature, Lower Limb Deformities | 29505567, 34806794 | Exon 9 |
PHEX_0299 | c.981C>G | p.Tyr327* | PHEX | SNV | Nonsense | Pathogenic | <5 | Tooth Abscesses and/or Excessive Dental Caries | 34806794 | Exon 9 |
PHEX_0300 | c.985dup | p.His329Profs*20 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | | 9768674, 16636593, 9768675, 9097956, 34806794 | Exon 9 |
PHEX_1109 | c.986_1004delATCTGAAAGACATCAGCCC | p.His329Profs*20 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | abnormal bone development, pectus carinatum, bowed or bent leg | 32253725 | Exon 9 |
PHEX_0301 | c.994del | p.Asp332Thrfs*23 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 34806794 | Exon 9 |
PHEX_0849 | c.998_1000del | p.Ile333del | PHEX | Small deletion | Deletion | Pathogenic | <5 | | 32329911, 34806794 | Exon 9 |
PHEX_0303 | c.1002_1003insG | p.Pro335Alafs*14 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 19219621, 34806794 | Exon 9 |
PHEX_0302 | c.1005del | p.Ser336Profs*19 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 22577109, 34806794 | Exon 9 |
PHEX_0304 | c.1008dup | p.Glu337Argfs*12 | PHEX | Small insertion | Missense | Pathogenic | <5 | | 21994957, 34806794 | Exon 9 |
PHEX_0305 | c.1009G>T | p.Glu337* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34806794 | Exon 9 |
PHEX_0306 | c.1013_1018del | p.Asn338_Val340delinsMet | PHEX | Small deletion | Deletion/Insertion | Likely Pathogenic | <5 | | 16636593, 15057978, 34806794 | Exon 9 |
PHEX_0850 | c.1009_1405-9282del | Partial Deletion (Exons 9-12) | PHEX | Splicing | Splice donor | Pathogenic | <5 | Reduced Serum Phosphate | 34806794 | Intron 8 |
PHEX_1032 | c.1016T>A | p.Val339Glu | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 34141703 | Exon 9 |
PHEX_0307 | c.1020_1022del | p.Val341del | PHEX | Small deletion | Deletion | Uncertain Significance | <5 | Reduced_TmP/GFR_(16636593, 34806794 | Exon 9 | |
PHEX_0308 | c.1021del | p.Val341Serfs*14 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 34806794 | Exon 9 |
PHEX_0309 | c.1022dup | p.Arg342Profs*7 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 34806794 | Exon 9 |
PHEX_0851 | c.1027G>A | p.Val343Ile | PHEX | SNV | Missense | Uncertain Significance | <5 | Lower limb deformities, Reduced Serum Phosphate | 34806794 | Exon 9 |
PHEX_0310 | c.1033C>T | p.Gln345* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 22101457, 29460029, 34806794 | Exon 9 |
PHEX_0311 | c.1034del | p.Gln345Argfs*10 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 22577109, 34806794 | Exon 9 |
PHEX_0312 | c.1036T>G | p.Tyr346Asp | PHEX | SNV | Missense | Likely Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 19219621, 22161748, 34806794 | Exon 9 |
PHEX_0313 | c.1037A>G | p.Tyr346Cys | PHEX | SNV | Missense | Uncertain Significance | <5 | | 34806794 | Exon 9 |
PHEX_1033 | c.1038C>A | p.Tyr346* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34141703 | Exon 9 |
PHEX_0314 | c.1042A>T | p.Lys348* | PHEX | SNV | Nonsense | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 16636593, 9097956, 19219621, 22161748, 34806794 | Exon 9 |
PHEX_0315 | c.1044del | p.Asp349Ilefs*6 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 21050253, 32619592, 34806794 | Exon 9 |
PHEX_1034 | c.1046A>G | p.Asp349Gly | PHEX | SNV | Missense | Likely Pathogenic | <5 | | | Exon 9 |
PHEX_0316 | c.1046dup | p.Asp349Glufs*4 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 34806794 | Exon 9 |
PHEX_1122 | c.1052_1053ins? | p.Phe351fs | PHEX | Small insertion | | Pathogenic | <5 | Lower limb deformities, Short Stature | | Exon 9 |
PHEX_0852 | c.1053_1077dup | p.Lys360* | PHEX | Small duplication | Nonsense | Pathogenic | <5 | Gait abnormalities, Lower limb deformities | 34806794 | Exon 9 |
PHEX_1035 | c.1065del | p.Ser356Leufs*37 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | abnormal bone development, pectus carinatum, bowed or bent leg, short stature | 32253725 | Exon 9 |
PHEX_0318 | c.1076del | p.Lys359Argfs*34 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 16636593, 9097956, 34806794 | Exon 9 |
PHEX_0321 | c.1079+1G>A | p.? | PHEX | Splicing | Splice donor | Pathogenic | 5-10 | Lower Limb Deformities, Gait Abnormalities, Gait abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities | 32329911, 32133333, 15057978, 21050253, 16636593, 33639975, 34806794 | Intron 9 |
PHEX_0322 | c.1079+1G>T | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | radiological signs of rickets, short stature, abnormal bone development | 33639975, 30607568, 34806794 | Intron 9 |
PHEX_0320 | c.1079+2_1079+5del | p.? | PHEX | Small deletion | Splice donor | Pathogenic | <5 | | 15057978, 19219621, 34141703, 34806794 | Intron 9 |
PHEX_0319 | c.1079+2T>G | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | Fractures/Pseudo-Fractures, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 10439971, 23079138, 16636593, 24926462, 34806794 | Intron 9 |
PHEX_0326 | c.1080-3C>A | p.? | PHEX | Splicing | Intronic | Pathogenic | <5 | Tooth Abscesses and/or Excessive Dental Caries, Short Stature, Lower Limb Deformities | 31102713, 26107949, 34806794 | Intron 9 |
PHEX_0329 | c.1080-2A>C | p.? | PHEX | Splicing | Splice acceptor | Pathogenic | 5-10 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 26904698, 31102713, 34806794 | Intron 9 |
PHEX_0330 | c.1080-2A>G | p.? | PHEX | Splicing | Splice acceptor | Pathogenic | 5-10 | Other Musculoskeletal Abnormalities, Cardio Vascular Disease, Lower Limb Deformi.... | 26051471, 9097956, 34806794 | Intron 9 |
PHEX_0328 | c.1080-1G>A | Splice acceptor | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | | 34806794 | Intron 9 |
PHEX_0327 | c.1080-?_1173+?del | Deletion (Exon 10) | PHEX | CNV | Deletion | Pathogenic | <5 | | 34806794 | Intron 9 |
PHEX_0325 | c.1080-?_1302+?del | Deletion (Exons 10-11) | PHEX | CNV | Deletion | Pathogenic | 5-10 | Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Ab.... | 16636593, 32253725, 34806794 | Intron 9 |
PHEX_1123 | c.1080-?_1404+?del | Deletion (Exons 10-12) | PHEX | Deletion | Deletion | UNKNOWN | <5 | | 34141703 | Exon 10 - 12 |
PHEX_1036 | c.1087G>C | p.Ala363Pro | PHEX | SNV | Missense | Pathogenic | <5 | | | Exon 10 |
PHEX_0331 | c.1088C>T | p.Ala363Val | PHEX | SNV | Missense | Likely Pathogenic | <5 | Lower Limb Deformities | 19513579, 34806794 | Exon 10 |
PHEX_0332 | c.1092C>A | p.Asn364Lys | PHEX | SNV | Missense | Likely Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 19219621, 34806794 | Exon 10 |
PHEX_0333 | c.1103G>A | p.Trp368* | PHEX | SNV | Nonsense | Pathogenic | 5-10 | Reduced Serum Phosphate | 31903094, 15057978, 16636593, 22695891, 34806794 | Exon 10 |
PHEX_1037 | c.1104_1106dupGAG | p.Arg369dup | PHEX | Small insertion | Insertion | Likely Pathogenic | <5 | abnormal bone development, pectus carinatum, bowed or bent leg, short stature | 32253725 | Exon 10 |
PHEX_0334 | c.1104G>A | p.Trp368* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34806794 | Exon 10 |
PHEX_0335 | c.1105A>T | p.Arg369* | PHEX | SNV | Nonsense | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Short Stature, Fractures/Pseudo-Fractures, .... | 24926462, 23079138, 21902834, 34806794 | Exon 10 |
PHEX_0336 | c.1106_1108dup | p.Arg369dup | PHEX | Small duplication | Insertion | Pathogenic | <5 | | 34806794 | Exon 10 |
PHEX_0337 | c.1109T>G | p.Met370Arg | PHEX | SNV | Missense | Likely Pathogenic | 5-10 | Gait Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities | 18625346, 34806794 | Exon 10 |
PHEX_0338 | c.1110_1111insAAG | p.Met370_Val371insLys | PHEX | Small insertion | Insertion | Likely Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 19219621, 34806794 | Exon 10 |
PHEX_0339 | c.1116T>A | p.Tyr372* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34806794 | Exon 10 |
PHEX_0340 | c.1118C>T | p.Ser373Phe | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 21050253, 34806794 | Exon 10 |
PHEX_0341 | c.1133T>C | p.Leu378Pro | PHEX | SNV | Missense | Uncertain Significance | <5 | Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 11502829, 23079138, 16636593, 24926462, 34806794 | Exon 10 |
PHEX_0342 | c.1134del | p.Ser379Alafs*14 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 16636593, 9199930, 34806794 | Exon 10 |
PHEX_0343 | c.1137_1149del | p.Arg380Ilefs*9 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 34806794 | Exon 10 |
PHEX_1038 | c.1138del | p.Arg380Glyfs*13 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Gait abnormalities, Lower limb deformities, Short Stature, Gait abnormalities, T.... | | Exon 10 |
PHEX_0344 | c.1142G>A | p.Arg381His | PHEX | SNV | Missense | Uncertain Significance | <5 | | 34806794 | Exon 10 |
PHEX_0345 | c.1146del | p.Gln383Serfs*10 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 34806794 | Exon 10 |
PHEX_0346 | c.1147C>T | p.Gln383* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34806794 | Exon 10 |
PHEX_0347 | c.1152dup | p.Arg385* | PHEX | Small insertion | Frameshift | Pathogenic | <5 | | 23813354, 23813354, 34806794 | Exon 10 |
PHEX_0348 | c.1152T>G | p.Tyr384* | PHEX | SNV | Nonsense | Pathogenic | 5-10 | Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait abnormalities, Lower limb deformities | 21994957, 19219621, 34806794 | Exon 10 |
PHEX_0349 | c.1157G>A | p.Trp386* | PHEX | SNV | Nonsense | Pathogenic | <5 | bowed or bent legs, dental caries, Lower Limb Deformities | 32329911, 34806794 | Exon 10 |
PHEX_0351 | c.? | p.Trp386* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 22101457, 34806794 | Exon 10 |
PHEX_0350 | c.1158G>A | p.Trp386* | PHEX | SNV | Nonsense | Pathogenic | <5 | Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 25894638, 16636593, 29460029, 34806794 | Exon 10 |
PHEX_0352 | c.1164dup | p.Phe389Ilefs*23 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | | 21050253, 34806794 | Exon 10 |
PHEX_0353 | c.1166del | p.Phe389Serfs*4 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Lower Limb Deformities | 16636593, 11502829, 34806794 | Exon 10 |
PHEX_1039 | c.1167_1173+17del | p.? | PHEX | Small deletion | Splice donor | Pathogenic | <5 | abnormal bone development, bowed or bent leg, short stature | 32253725 | Exon 10, Intron 10 |
PHEX_1040 | c.1168del | p.Ser390Glnfs*3 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Lower limb deformities, Short Stature | | Exon 10 |
PHEX_0355 | c.1173+1del | Splice donor | PHEX | Splicing | Splice donor | Pathogenic | <5 | | 34806794 | Intron 10 |
PHEX_0356 | c.1173+1G>A | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | Gait Abnormalities, Lower Limb Deformities | 24926462, 23079138, 21902834, 34141703, 34806794 | Intron 10 |
PHEX_0354 | c.1173+1G>C | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | | 25086671 | Intron 10 |
PHEX_0359 | c.1173+1G>T | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature | 22101457, 29460029, 34806794 | Intron 10 |
PHEX_0357 | c.1173+2T>C | Splice donor | PHEX | Splicing | Splice donor | Pathogenic | 11-20 | Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities, Lower Limb Deformities | 34806794 | Intron 10 |
PHEX_0358 | c.1173+5G>A | Intronic | PHEX | Splicing | Intronic | Likely Pathogenic | <5 | Gait Abnormalities, Lower Limb Deformities | 34806794 | Intron 10 |
PHEX_1041 | c.1174-937T>G | p.? | PHEX | Splicing | Intronic | Benign | <5 | | 21644943 | Intron 10 |
PHEX_1042 | c.1174-3C>G | p.? | PHEX | Splicing | Intronic | Likely Pathogenic | <5 | | 34141703 | Intron 10 |
PHEX_0853 | c.1174-2A>G | Splice acceptor | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | | 34141703, 34806794 | Intron 10 |
PHEX_0362 | c.1174-1G>A | p.? | PHEX | Splicing | Splice acceptor | Pathogenic | 5-10 | Short Stature, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities, genu varum, stunted growth, short stature | 24836714, 18162710, 28506344, 30599486, 27840894, 34141703, 34806794 | Intron 10 |
PHEX_0360 | c.1174-?_1302+?del | Deletion (Exon 11) | PHEX | CNV | Deletion | Pathogenic | <5 | | 34806794 | Intron 10 |
PHEX_0363 | c.1180C>T | p.Gln394* | PHEX | SNV | Nonsense | Pathogenic | 5-10 | Lower Limb Deformities | 19513579, 15057978, 34806794 | Exon 11 |
PHEX_0364 | c.1183G>C | p.Gly395Arg | PHEX | SNV | Missense | Likely Pathogenic | <5 | Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 24836714, 34806794 | Exon 11 |
PHEX_0365 | c.1185del | p.Thr396Profs*12 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 15057978, 19219621, 34806794 | Exon 11 |
PHEX_0366 | c.1204C>T | p.Gln402* | PHEX | SNV | Nonsense | Pathogenic | <5 | abnormal bone development | 33639975, 34806794 | Exon 11 |
PHEX_0368 | c.1206A>G | p.Gln402Gln | PHEX | SNV | Missense | Likely Benign | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 19219621, 34806794 | Exon 11 |
PHEX_0367 | c.1206del | p.Gln402Hisfs*6 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Short Stature, Lower Limb Deformities | 29505567, 34806794 | Exon 11 |
PHEX_0369 | c.1208G>A | p.Trp403* | PHEX | SNV | Nonsense | Pathogenic | 5-10 | Other Musculoskeletal Abnormalities, Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities | 26377240, 19219621, 33666701, 34806794 | Exon 11 |
PHEX_0370 | c.1209G>A | p.Trp403* | PHEX | SNV | Nonsense | Pathogenic | 11-20 | Short Stature, Bone and/or Joint Pain and/or Joint Stiffness, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries | 30920082, 15057978, 9097956, 16636593, 34806794 | Exon 11 |
PHEX_0371 | c.1210del | p.Asp404Thrfs*4 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Gait Abnormalities, Lower Limb Deformities | 34806794 | Exon 11 |
PHEX_0372 | c.1211_1215delinsTTTACAT | p.Asp404Valfs*5 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | | 26107949, 34806794 | Exon 11 |
PHEX_1132 | c.? | p.Cys406Ser | PHEX | | Missense | Likely Pathogenic | <5 | | 25042154 | Exon 11 |
PHEX_0376 | c.1216T>A | p.Cys406Ser | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 30682568, 24756041 | Exon 11 |
PHEX_0373 | c.1216T>C | p.Cys406Arg | PHEX | SNV | Missense | Pathogenic | <5 | Short Stature, Bone Density Abnormalities, Lower Limb Deformities | 29505567, 24756041, 34806794 | Exon 11 |
PHEX_0374 | c.1217G>A | p.Cys406Tyr | PHEX | SNV | Missense | Pathogenic | <5 | Lower Limb Deformities | 24926462, 23079138, 29505567, 34806794 | Exon 11 |
PHEX_0375 | c.1217G>T | p.Cys406Phe | PHEX | SNV | Missense | Pathogenic | <5 | Short Stature, Lower Limb Deformities | 29460029, 29505567, 34806794 | Exon 11 |
PHEX_0854 | c.1218T>A | p.Cys406* | PHEX | SNV | Nonsense | Pathogenic | <5 | Reduced Serum Phosphate, Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures | 34806794 | Exon 11 |
PHEX_1043 | c.1220T>G | p.Val407Gly | PHEX | SNV | Missense | Uncertain Significance | <5 | Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscess.... | | Exon 11 |
PHEX_0377 | c.1224del | p.Phe409Leufs*15 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries | 34141703, 34806794 | Exon 11 |
PHEX_1044 | c.1234del | p.Ser412Valfs*12 | PHEX | Small deletion | Frameshift | Pathogenic | 5-10 | abnormal bone development, pectus carinatum, bowed or bent leg, short stature | 34141703, 27840894 | Exon 11 |
PHEX_0378 | c.1237G>C | p.Ala413Pro | PHEX | SNV | Missense | Likely Pathogenic | 5-10 | | 34806794 | Exon 11 |
PHEX_0379 | c.1251del | p.Val418Leufs*6 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 34806794 | Exon 11 |
PHEX_0380 | c.1263del | p.Met421Ilefs*3 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 19219621, 34806794 | Exon 11 |
PHEX_0381 | c.1269del | p.Asp424Metfs*11 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Other Musculoskeletal Abnormalities | 10439971, 16636593, 34806794 | Exon 11 |
PHEX_0382 | c.1270_1271del | p.Asp424Cysfs*7 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 15057978, 34806794 | Exon 11 |
PHEX_1133 | c.? | p.Tyr426* | PHEX | | Nonsense | Pathogenic | <5 | bowed or bent legs, dental abscesses | 11502829 | Exon 11 |
PHEX_0383 | c.1278C>G | p.Tyr426* | PHEX | SNV | Nonsense | Pathogenic | 5-10 | | 16636593, 34806794 | Exon 11 |
PHEX_0384 | c.1282C>T | p.Gln428* | PHEX | SNV | Nonsense | Pathogenic | <5 | Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature | 16636593, 15057978, 14564066, 34806794 | Exon 11 |
PHEX_0385 | c.1294A>T | p.Lys432* | PHEX | SNV | Nonsense | Pathogenic | 5-10 | Short Stature, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental C.... | 23813354, 22713460, 29901142, 24857004, 27840894, 34141703, 34806794 | Exon 11 |
PHEX_0394 | c.1301-?_1899+?del | Deletion (Exons 12-18) | PHEX | CNV | Deletion | Uncertain Significance | <5 | | 34806794 | Exons 12-18 |
PHEX_0386 | c.1302+1G>A | p.? | PHEX | Splicing | Splice donor | Pathogenic | 5-10 | muscle weakness, bowed or bent legs, Gait abnormalities, Lower limb deformities,.... | 26377240, 32329911, 9097956, 32253725, 34806794 | Intron 11 |
PHEX_0388 | c.1302+1G>C | Splice donor | PHEX | Splicing | Splice donor | Pathogenic | <5 | | 34806794 | Intron 11 |
PHEX_0387 | c.1302+1G>T | p.? | PHEX | Splicing | Splice donor | Likely Pathogenic | <5 | | 9097956, 16636593, 34806794 | Intron 11 |
PHEX_0855 | c.1302+4_1302+10del | Intronic | PHEX | Small deletion | Splice donor | Likely Pathogenic | <5 | Lower limb deformities | 34806794 | Intron 11 |
PHEX_1045 | c.1303-3589C>G | p.? | PHEX | Splicing | Intronic | Uncertain Significance | <5 | | 16183656 | Intron 11 |
PHEX_1046 | c.1303-1G>C | p.? | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | | 34141703 | Intron 11 |
PHEX_0396 | c.1303-1G>T | p.? | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities | 26051471, 34806794 | Intron 11 |
PHEX_0390 | c.? | Intron 12 - Exon 13 | PHEX | CNV | Unknown | Likely Pathogenic | <5 | | 34806794 | Intron 12 - Exon 13 |
PHEX_1134 | c.? | Partial deletion (Exon 12) | PHEX | | | Pathogenic | <5 | Reduced_TmP/GFR_( | | Exon 12 |
PHEX_0392 | c.1303-?_1404+?del | Deletion (Exon 12) | PHEX | CNV | Deletion | Pathogenic | 5-10 | Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Lower li.... | 16636593, 32329911, 9199930, 32253725, 33666701, 34141703, 34806794 | Intron 11 |
PHEX_0393 | c.1303-?_1404+?dup | Gain (Exon 12) | PHEX | CNV | Duplication | Pathogenic | <5 | Lower limb deformities, Reduced Serum Phosphate | 34806794 | Intron 11 |
PHEX_0395 | c.1303-?_1482+?dup | Gain (Exons 12-13) | PHEX | CNV | Duplication | Uncertain Significance | <5 | Lower Limb Deformities | 34806794 | Intron 11 |
PHEX_0389 | c.1303-?_2070+?dup | Gain (Exons 12-20) | PHEX | CNV | Duplication | Uncertain Significance | <5 | | 34806794 | Intron 11 |
PHEX_1124 | c.1303-?_1645+?dup | Gain (Exons 12-15) | PHEX | | | Likely Pathogenic | <5 | Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature | | Exon 12 - 15 |
PHEX_0398 | c.1304T>G | p.Met435Arg | PHEX | Splicing | Intronic | Uncertain Significance | <5 | Lower Limb Deformities, Gait Abnormalities, Gait abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities | 34806794 | Exon 12 |
PHEX_0399 | c.1305_1306insC | p.Glu436Argfs*5 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | | 21050253, 34806794 | Exon 12 |
PHEX_0401 | c.1309dup | p.Glu437Glyfs*4 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | Lower limb deformities, Reduced Serum Phosphate | 34806794 | Exon 12 |
PHEX_0402 | c.1309G>T | p.Glu437* | PHEX | SNV | Nonsense | Pathogenic | <5 | Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 34806794 | Exon 12 |
PHEX_0404 | c.1313del | p.Leu438Trpfs*13 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 34806794 | Exon 12 |
PHEX_0403 | c.1313T>C | p.Leu438Ser | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 34806794 | Exon 12 |
PHEX_0405 | c.1313T>G | p.Leu438Trp | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 22695891, 34806794 | Exon 12 |
PHEX_0406 | c.1319_1321del | p.Glu440del | PHEX | Small deletion | Deletion | Likely Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 19219621, 34806794 | Exon 12 |
PHEX_0407 | c.1324G>T | p.Val442Phe | PHEX | SNV | Missense | Likely Pathogenic | <5 | radiological signs of rickets, short stature, abnormal bone development | 33639975, 15057978, 34806794 | Exon 12 |
PHEX_0409 | c.1328G>A | p.Arg443His | PHEX | SNV | Missense | Uncertain Significance | <5 | | 34806794 | Exon 12 |
PHEX_0408 | c.1328G>C | p.Arg443Pro | PHEX | SNV | Missense | Uncertain Significance | <5 | | 34806794 | Exon 12 |
PHEX_0410 | c.1331G>A | p.Trp444* | PHEX | SNV | Nonsense | Pathogenic | <5 | dental caries | 32329911, 22695891, 34806794 | Exon 12 |
PHEX_0412 | c.1332_1333insAAC | p.Trp444_Ala445insAsn | PHEX | Small insertion | Insertion | Likely Pathogenic | <5 | | 11004247, 16636593, 34806794 | Exon 12 |
PHEX_0411 | c.1332G>A | p.Trp444* | PHEX | SNV | Nonsense | Pathogenic | 5-10 | Bone and/or Joint Pain and/or Joint Stiffness, short stature, Lower Limb Deformi.... | 24836714, 29901142, 34141703, 34806794 | Exon 12 |
PHEX_1047 | c.1333del | p.Ala445Profs*6 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | abnormal bone development, bowed or bent leg | 32253725 | Exon 12 |
PHEX_0856 | c.1334C>A | p.Ala445Asp | PHEX | SNV | Missense | Likely Pathogenic | <5 | Fractures/pseudo-fractures, Lower limb deformities | 34806794 | Exon 12 |
PHEX_0413 | c.1335del | p.Phe446Leufs*5 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 34806794 | Exon 12 |
PHEX_0857 | c.1337delinsAATAA | p.Phe446* | PHEX | Small insertion | Nonsense | Pathogenic | <5 | | 29707405, 34806794 | Exon 12 |
PHEX_0414 | c.1349T>C | p.Leu450Pro | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 21050253, 34806794 | Exon 12 |
PHEX_0415 | c.1351G>T | p.Glu451* | PHEX | SNV | Nonsense | Pathogenic | <5 | Other Musculoskeletal Abnormalities | 10439971, 23079138, 16636593, 24926462, 34806794 | Exon 12 |
PHEX_0416 | c.1357_1360del | p.Glu453Metfs*29 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 29460029, 34806794 | Exon 12 |
PHEX_0417 | c.1363G>T | p.Glu455* | PHEX | SNV | Nonsense | Pathogenic | 5-10 | Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities | 10439971, 23079138, 16636593, 24926462, 22261628, 18162710, 30599486, 34806794 | Exon 12 |
PHEX_0418 | c.1366T>A | p.Trp456Arg | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 29460029, 34806794 | Exon 12 |
PHEX_1048 | c.1366T>G | p.Trp456Gly | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 33666701 | Exon 12 |
PHEX_0422 | c.? | p.Trp456Cys | PHEX | SNV | Missense | Likely Pathogenic | 5-10 | short stature, abnormal bone development | 10439971, 22101457, 12001226, 34806794 | Exon 12 |
PHEX_0419 | c.1367G>A | p.Trp456* | PHEX | SNV | Nonsense | Pathogenic | 5-10 | abnormal bone development, pectus carinatum, bowed or bent leg, short stature | 9199930, 16636593, 30607568, 33639975, 32253725, 34806794 | Exon 12 |
PHEX_0420 | c.1368G>A | p.Trp456* | PHEX | SNV | Nonsense | Pathogenic | <5 | Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 22577109, 34806794 | Exon 12 |
PHEX_0421 | c.1368G>C | p.Trp456Cys | PHEX | SNV | Missense | Pathogenic | <5 | | 29460029, 34806794 | Exon 12 |
PHEX_0858 | c.1382C>A | p.Thr461Lys | PHEX | SNV | Missense | Likely Pathogenic | <5 | Lower limb deformities, Tooth abscesses and/or excessive dental caries | 34806794 | Exon 12 |
PHEX_0423 | c.1382C>G | p.Thr461Arg | PHEX | SNV | Missense | Likely Pathogenic | <5 | Lower Limb Deformities | 34806794 | Exon 12 |
PHEX_0424 | c.1387del | p.Arg463Glyfs*20 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Gait Abnormalities, Lower Limb Deformities | 34806794 | Exon 12 |
PHEX_0859 | c.1387dup | p.Arg463Lysfs*23 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 34806794 | Exon 12 |
PHEX_0425 | c.1394C>A | p.Ala465Asp | PHEX | SNV | Missense | Uncertain Significance | <5 | | 34806794 | Exon 12 |
PHEX_0860 | c.1398dup | p.Glu467Argfs*19 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate | 34806794 | Exon 12 |
PHEX_0426 | c.1399G>T | p.Glu467* | PHEX | SNV | Nonsense | Pathogenic | <5 | Gait Abnormalities, Lower Limb Deformities | 16636593, 34141703, 34806794 | Exon 12 |
PHEX_0427 | c.1400_1404del | p.Glu467Glyfs*17 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 16636593, 15057978, 34806794 | Exon 12 |
PHEX_0428 | c.1402A>G | p.Lys468Glu | PHEX | Splicing | Missense | Uncertain Significance | <5 | bone pain, bowed or bent legs | 32329911, 34806794 | Exon 12 |
PHEX_0429 | c.1403A>C | p.Lys468Thr | PHEX | Splicing | Intronic | Pathogenic | <5 | Reduced Serum Phosphate | 34806794 | Exon 12 |
PHEX_0430 | c.1403del | p.Lys468Argfs*15 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 16636593, 19219621, 34806794 | Exon 12 |
PHEX_0432 | c.1404G>C | p.Lys468Asn | PHEX | Splicing | Missense | Likely Pathogenic | <5 | Lower Limb Deformities | 33358363, 33639975, 34806794 | Exon 12 |
PHEX_1110 | c.1404G>T | p.Lys468Asn | PHEX | SNV | Missense | Likely Pathogenic | <5 | abnormal bone development, bowed or bent leg, short stature | 32253725 | Exon 12 |
PHEX_0433 | c.1404+1del | p.? | PHEX | Small deletion | Splice donor | Pathogenic | <5 | Short Stature, Lower Limb Deformities | 29505567, 34806794 | Intron 12 |
PHEX_0431 | c.1404+2_1404+6del | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries | 22695891, 34806794 | Intron 12 |
PHEX_1049 | c.1404+9251G>A | p.? | PHEX | Splicing | Intronic | Benign | <5 | | 21326311 | Intron 12 |
PHEX_1050 | c.1405-6860C>T | p.? | PHEX | Splicing | Intronic | Benign | <5 | | 20018918 | Intron 12 |
PHEX_0863 | | Partial Deletion(Exon 13) | PHEX | CNV | Deletion | Likely Pathogenic | <5 | Gait abnormalities, Lower limb deformities, Tooth abscesses and/or excessive dental caries | 34806794 | Exon 13 |
PHEX_1135 | Complex Rearrangement/Intron 12 - Exon 13 | Intron 12 - Exon 13 | PHEX | | | Likely Pathogenic | <5 | Short Stature | | Intron 12 - Exon 13 |
PHEX_1136 | c.? | Partial deletion (Exon 13) | PHEX | | | Likely Pathogenic | <5 | Gait abnormalities, Muscle pain and/or weakness and/or fatigue, Bone and/or join.... | | Exon 13 |
PHEX_0862 | c.1405_?del | p.Ala469_?del | PHEX | Small deletion | Deletion | UNKNOWN | <5 | | 33639975, 34806794 | Exon 13 |
PHEX_0861 | c.1405-?_1482+?del | Deletion (Exon 13) | PHEX | CNV | Deletion | Likely Pathogenic | <5 | Gait abnormalities, Lower limb deformities, Tooth abscesses and/or excessive dental caries | 34806794 | Intron 12 |
PHEX_0439 | c.1406_1488del | | PHEX | Small deletion | Frameshift | Uncertain Significance | <5 | | 16636593, 34806794 | Exon 13 |
PHEX_0440 | c.1405-?_1645+?del | Deletion (Exons 13-15) | PHEX | CNV | Deletion | Likely Pathogenic | <5 | | 24926462, 23079138, 21902834, 34806794 | Exon 13 - 15 |
PHEX_0437 | c.1405-?_1645+?dup | Gain (Exons 13-15) | PHEX | CNV | Duplication | Pathogenic | 30+ | Fractures/Pseudo-Fractures, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities | 34806794 | Intron 12 |
PHEX_0434 | c.1405-?_2070+?dup | Gain (Exons 13-20) | PHEX | CNV | Duplication | Likely Pathogenic | <5 | Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Fractures/Pseudo-Fractures | 34806794 | Intron 12 |
PHEX_0436 | c.1405-?_*3357+?del | Deletion (Exons 13-22) | PHEX | CNV | Deletion | Pathogenic | 5-10 | Gait abnormalities, Muscle pain and/or weakness and/or fatigue, Reduced_TmP/GFR_.... | 24926462, 21902834, 23079138, 34806794 | Intron 12 |
PHEX_1051 | c.1406C>A | p.Ala469Glu | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 33666701 | Exon 13 |
PHEX_0442 | c.1412_1417del | p.Ala471_Leu473delinsVal | PHEX | Small deletion | Deletion | Uncertain Significance | <5 | Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 34806794 | Exon 13 |
PHEX_1052 | c.1415T>A | p.Val472Asp | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 34141703 | Exon 13 |
PHEX_1053 | c.1426G>A | p.Val476Ile | PHEX | SNV | Missense | Uncertain Significance | <5 | Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Fractures/pseudo-fractures | | Exon 13 |
PHEX_0443 | c.1434T>A | p.Tyr478* | PHEX | SNV | Nonsense | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 16636593, 9097956, 19219621, 34806794 | Exon 13 |
PHEX_0864 | c.1446_1452del | p.Ile482Metfs*30 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries | 34806794 | Exon 13 |
PHEX_1054 | c.1461del | p.His487Glnfs*27 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | short stature, pain, bowed or bent leg, dental abscesses | 34141703, 33796255 | Exon 13 |
PHEX_0444 | c.1471del | p.Asp491Thrfs*23 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | bowed or bent legs, Other Musculoskeletal Abnormalities, Lower Limb Deformities | 27884786, 19219621, 34806794 | Exon 13 |
PHEX_0445 | c.1474del | p.Leu492Serfs*22 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 29460029, 34806794 | Exon 13 |
PHEX_0453 | c.1482+1G>A | Splice donor | PHEX | Splicing | Splice donor | Pathogenic | <5 | Gait Abnormalities, Lower Limb Deformities | 34806794 | Intron 13 |
PHEX_0451 | c.1482+1G>C | p.? | PHEX | Splicing | Splice donor | Pathogenic | 5-10 | Lower Limb Deformities | 9768674, 21050253, 24926462, 16636593, 31102713, 34141703, 34806794 | Intron 13 |
PHEX_0447 | c.1482+1G>T | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | Lower Limb Deformities | 23079138, 11502829, 34806794 | Intron 13 |
PHEX_0449 | c.1482+2T>G | Splice donor | PHEX | Splicing | Splice donor | Pathogenic | <5 | | 34806794 | Intron 13 |
PHEX_0448 | c.1482+3_1482+4delinsT | p.? | PHEX | Deletion/Insertion | Intronic | Uncertain Significance | <5 | | 19219621, 34806794 | Intron 13 |
PHEX_0450 | c.1482+3A>C | Intronic | PHEX | Splicing | Intronic | Pathogenic | 5-10 | Lower Limb Deformities, Gait Abnormalities, Fractures/Pseudo-Fractures, Reduced Serum Phosphate, Tooth Abscesses and/or Excessive Dental Caries | 34806794 | Intron 13 |
PHEX_0452 | c.1482+4del | p.? | PHEX | Splicing | Intronic | Likely Pathogenic | <5 | Short Stature, Other Musculoskeletal Abnormalities | 24926462, 33639975, 21902834, 34806794 | Intron 13 |
PHEX_0446 | c.1482+5G>C | p.? | PHEX | Splicing | Intronic | Pathogenic | <5 | Fractures/Pseudo-Fractures, Lower Limb Deformities, gait disturbance, abnormal bone development, bowed or bent leg, cupping and fraying of metaphyses | 31102713, 16636593, 29460029, 34275936, 34806794 | Intron 13 |
PHEX_1055 | c.1483-1012C>T | p.? | PHEX | Splicing | Intronic | Benign | <5 | | 28900292 | Intron 13 |
PHEX_1056 | c.1483-804T>A | p.? | PHEX | Splicing | Intronic | Pathogenic | <5 | ossified posterior longitudinal ligament, ossified anterior longitudinal ligamen.... | 33953992 | Intron 13 |
PHEX_0458 | c.1483-2A>G | p.? | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | Lower Limb Deformities | 24926462, 23079138, 25031893, 34806794 | Intron 13 |
PHEX_0454 | c.1483-1G>A | p.? | PHEX | Splicing | Splice acceptor | Pathogenic | 5-10 | bowed or bent legs, lumbar hyperlordosis, knock knee, Lower Limb Deformities, Gait Abnormalities | 22577109, 33295632, 34806794 | Intron 13 |
PHEX_0457 | c.1483-1G>C | p.? | PHEX | Splicing | Splice acceptor | Pathogenic | 11-20 | Short Stature, genu varum, Lower limb deformities, Fractures/Pseudo-Fractures, G.... | 31567381, 27840894, 34218635, 34141703, 34806794 | Intron 13 |
PHEX_0455 | c.1483-?_1586+?del | Deletion (Exon 14) | PHEX | CNV | Deletion | Pathogenic | <5 | | 33295632, 34806794 | Exon 14 |
PHEX_0456 | c.1483-?_1645+?del | Deletion (Exons 14-15) | PHEX | CNV | Deletion | Pathogenic | <5 | | 34806794 | Intron 13 |
PHEX_0460 | c.? | p.Lys496* | PHEX | SNV | Nonsense | Pathogenic | 5-10 | | 23700148, 29381780, 22573557, 22006791, 28005411, 34806794 | Exon 14 |
PHEX_0461 | c.1491_1509del | p.Phe497Leufs*11 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 26377240, 34806794 | Exon 14 |
PHEX_0462 | c.1503_1504insGACT | p.Tyr502Aspfs*17 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | abnormal bone development | 24926462, 23079138, 16636593, 10439971, 34806794 | Exon 14 |
PHEX_1057 | c.1506C>G | p.Tyr502* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 33666701 | Exon 14 |
PHEX_0463 | c.1519C>G | p.Leu507Val | PHEX | SNV | Missense | Uncertain Significance | <5 | Fractures/Pseudo-Fractures, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 34806794 | Exon 14 |
PHEX_0464 | c.1520T>C | p.Leu507Pro | PHEX | SNV | Missense | Uncertain Significance | <5 | | 34806794 | Exon 14 |
PHEX_0465 | c.1522C>T | p.Gln508* | PHEX | SNV | Nonsense | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 21050253, 19219621, 22695891, 34806794 | Exon 14 |
PHEX_0466 | c.1523_1537del | p.Gln508_Tyr512del | PHEX | Small deletion | Deletion | Likely Pathogenic | <5 | | 15057978, 34806794 | Exon 14 |
PHEX_1111 | c.1525delA | p.Thr509Leufs*5 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | | Exon 14 |
PHEX_0468 | c.1529G>C | p.Arg510Pro | PHEX | SNV | Missense | Likely Pathogenic | <5 | Short Stature, Other Musculoskeletal Abnormalities | 23079138, 15057978, 16636593, 24926462, 21902834, 34806794 | Exon 14 |
PHEX_0469 | c.1531A>T | p.Lys511* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34806794 | Exon 14 |
PHEX_0467 | c.1532del | p.Lys511Serfs*3 | PHEX | Small deletion | Frameshift | Pathogenic | 11-20 | Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 18625346, 11502829, 16636593, 34806794 | Exon 14 |
PHEX_0471 | c.1535del | p.Tyr512Phefs*2 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Lower Limb Deformities | 34806794 | Exon 14 |
PHEX_0865 | c.1540G>C | p.Ala514Pro | PHEX | SNV | Missense | Pathogenic | <5 | | 32329911, 34806794 | Exon 14 |
PHEX_0867 | c.1543_1544del | p.Gln515Valfs*2 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 33639975, 34806794 | Exon 14 |
PHEX_0472 | c.1543C>T | p.Gln515* | PHEX | SNV | Nonsense | Pathogenic | 5-10 | Reduced_TmP/GFR_( | 26377240, 23079138, 24926462, 21902834, 31927522, 34806794 | Exon 14 |
PHEX_0866 | c.1543del | p.Gln515SerfsTer7 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 32329911, 34806794 | Exon 14 |
PHEX_0473 | c.1553del | p.Phe518Serfs*4 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Short Stature, Hearing Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries | 25060345, 34806794 | Exon 14 |
PHEX_0474 | c.1560del | p.Trp520Cysfs*2 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 23079138, 16636593, 24926462, 9199930, 34806794 | Exon 14 |
PHEX_0868 | c.1566_1570del | p.Arg522Serfs*58 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 32619592, 34806794 | Exon 14 |
PHEX_0475 | c.1572dup | p.Val525Argfs*57 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | | 16636593, 9199930, 34806794 | Exon 14 |
PHEX_0484 | c.1586_1586+1del | p.? | PHEX | Small deletion | Splice donor | Pathogenic | 11-20 | stunted growth, pectus carinatum, abnormal bone development, genu varum | 19429806, 10439971, 24229582, 19219621, 27840894, 34141703, 34806794, 23079138, 30599486, 24926462 | Exon 14 - 15, Intron 14 |
PHEX_1058 | c.1585_1586del | p.Glu529Valfs*52 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short Stature | | Exon 14 |
PHEX_0479 | c.1586+1G>A | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Short Stature | 28506344, 26051471, 31102713, 29505567, 34806794 | Intron 14 |
PHEX_0481 | c.1586+1G>C | Splice donor | PHEX | Splicing | Splice donor | Pathogenic | <5 | | 34806794 | Intron 14 |
PHEX_0477 | c.1586+1G>T | Splice donor | PHEX | Splicing | Splice donor | Pathogenic | <5 | abnormal bone development, pectus carinatum, bowed or bent leg, short stature | 32253725, 34806794 | Intron 14 |
PHEX_0483 | c.1586+2T>A | Splice donor | PHEX | Splicing | Splice donor | Pathogenic | <5 | | 34806794 | Intron 14 |
PHEX_0482 | c.1586+2T>G | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | Short Stature, Lower Limb Deformities | 29505567, 34806794 | Intron 14 |
PHEX_0480 | c.1586+3_1586+6del | p.Glu529Valfs*52 | PHEX | Small deletion | Intronic, Frameshift | Pathogenic | 11-20 | Other Musculoskeletal Abnormalities, Reduced Serum Phosphate, Lower Limb Deformi.... | 10439971, 32329911, 11502829, 9106524, 22695891, 24926462, 19219621, 18625346, 34806794 | Intron 14, Exon 14 - 15 |
PHEX_0870 | c.1586+3G>T | Intronic | PHEX | Splicing | Splice donor | Likely Pathogenic | <5 | Reduced Serum Phosphate | 34141703, 34806794 | Intron 14 |
PHEX_0869 | c.1586+5G>A | Intronic | PHEX | Splicing | Intronic | Pathogenic | <5 | Gait abnormalities, Lower limb deformities | 34806794 | Intron 14 |
PHEX_0871 | c.1586+6T>A | Intronic | PHEX | Splicing | Intronic | Likely Pathogenic | <5 | | 21885902, 34806794 | Intron 14 |
PHEX_0478 | c.1586+6T>C | p.? | PHEX | Splicing | Intronic | Pathogenic | <5 | | 18625346, 31102713, 20157195, 34806794 | Intron 14 |
PHEX_1059 | c.1587-46C>T | p.? | PHEX | Splicing | Intronic | Uncertain Significance | <5 | | 24857004 | Intron 14 |
PHEX_0488 | c.1587-1G>A | Splice acceptor | PHEX | Splicing | Splice acceptor | Pathogenic | 5-10 | Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Ab.... | 34806794 | Intron 14 |
PHEX_0489 | c.1587-1G>C | p.? | PHEX | Splicing | Splice acceptor | Pathogenic | 5-10 | | 28506344, 31903094, 22695891, 34806794 | Intron 14 |
PHEX_0872 | c.1589G>A | p.Trp530* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34141703, 34806794 | Exon 15 |
PHEX_0487 | | Exon 15 | PHEX | CNV | Deletion | Likely Pathogenic | <5 | | 34806794 | Exon 15 |
PHEX_1137 | c.? | Partial deletion (Exon 15) | PHEX | | | Likely Pathogenic | <5 | | | Exon 15 |
PHEX_0486 | c.1587-?_1645+?del | Deletion (Exon 15) | PHEX | CNV | Deletion | Pathogenic | 5-10 | Lower Limb Deformities, abnormal bone development, pectus carinatum, bowed or bent leg, short stature | 32253725, 34806794 | Intron 14 |
PHEX_0485 | c.1587-?_2070+?del | Deletion (Exons 15-20) | PHEX | CNV | Deletion | Pathogenic | <5 | | 34141703, 34806794 | Intron 14 |
PHEX_1125 | c.1587-?_*3357+?del | Deletion (Exons 15-22) | PHEX | | Deletion | UNKNOWN | <5 | | 34141703 | Exon 15 - 22 |
PHEX_1060 | c.1590del | p.Trp530Cysfs*40 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | abnormal bone development, bowed or bent leg | 32253725 | Exon 15 |
PHEX_0491 | c.1590G>A | p.Trp530* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 9768674, 16636593, 34806794 | Exon 15 |
PHEX_0490 | c.1590G>C | p.Trp530Cys | PHEX | SNV | Missense | Likely Pathogenic | <5 | Other Musculoskeletal Abnormalities | 10439971, 16636593, 34806794 | Exon 15 |
PHEX_0492 | c.1593dup | p.Thr532Tyrfs*50 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 34806794 | Exon 15 |
PHEX_0494 | c.1600C>A | p.Pro534Thr | PHEX | SNV | Missense | Pathogenic | <5 | Lower limb deformities, Reduced Serum Phosphate, Lower Limb Deformities | 22577109, 28383812, 34806794 | Exon 15 |
PHEX_0493 | c.1600C>T | p.Pro534Ser | PHEX | SNV | Missense | Likely Pathogenic | <5 | Lower Limb Deformities | 28383812, 29460029, 34806794 | Exon 15 |
PHEX_0495 | c.1601C>T | p.Pro534Leu | PHEX | SNV | Missense | Pathogenic | 30+ | Other Musculoskeletal Abnormalities, Reduced_TmP/GFR_( | 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 | Exon 15 |
PHEX_1061 | c.1604C>T | p.Thr535Met | PHEX | SNV | Missense | Likely Pathogenic | <5 | stunted growth, abnormal bone development, flexion contracture | 33888711 | Exon 15 |
PHEX_0496 | c.1605_1607del | p.Thr536del | PHEX | Small deletion | Deletion | Likely Pathogenic | <5 | Short Stature, Lower Limb Deformities | 19513579, 34806794 | Exon 15 |
PHEX_1062 | c.1621T>G | p.Tyr541Asp | PHEX | SNV | Missense | Likely Pathogenic | <5 | | | Exon 15 |
PHEX_0498 | c.1639C>T | p.Gln547* | PHEX | SNV | Nonsense | Pathogenic | <5 | Short Stature, Other Musculoskeletal Abnormalities | 24926462, 23079138, 21902834, 34806794 | Exon 15 |
PHEX_0873 | c.1640A>C | p.Gln547Pro | PHEX | SNV | Missense | Likely Pathogenic | <5 | Lower limb deformities, Reduced Serum Phosphate | 34806794 | Exon 15 |
PHEX_0874 | c.1643T>C | p.Ile548Thr | PHEX | SNV | Missense | Likely Pathogenic | 5-10 | | 25237965, 34806794 | Exon 15 |
PHEX_0505 | c.1645C>T | p.Arg549* | PHEX | SNV | Nonsense | Pathogenic | 30+ | Other Musculoskeletal Abnormalities, Short Stature, Fractures/Pseudo-Fractures, .... | 29460029, 24836714, 23079138, 15057978, 9097956, 29901142, 16636593, 24926462, 25894638, 19219621, 21902834, 26051471, 31102713, 29505567, 34141703, 34806794 | Exon 15 - 16 |
PHEX_0503 | c.1645+1G>A | p.? | PHEX | Splicing | Splice donor | Pathogenic | 30+ | Other Musculoskeletal Abnormalities, Reduced_TmP/GFR_( | 10439971, 23079138, 24857004, 21902834, 22101457, 25086671, 15057978, 32619592, 18625346, 33639975, 32329911, 11502829, 30682568, 22695891, 24926462, 19219621, 33295632, 16636593, 31102713, 24102521, 33666701, 34141703, 34806794 | Intron 15 |
PHEX_0506 | c.1645+1G>T | Splice donor | PHEX | Splicing | Splice donor | Pathogenic | <5 | Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscess.... | 34806794 | Intron 15 |
PHEX_0497 | c.1645+2T>C | Splice donor | PHEX | Splicing | Splice donor | Pathogenic | <5 | | 9199930, 34806794 | Intron 15 |
PHEX_0500 | c.1645+2T>G | Splice donor | PHEX | Splicing | Splice donor | Pathogenic | <5 | Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 34806794 | Intron 15 |
PHEX_1063 | c.1645+4A>C | Intronic | PHEX | Splicing | Splice donor | Uncertain Significance | <5 | | | Intron 15 |
PHEX_0504 | c.1645+4A>G | p.? | PHEX | Splicing | Intronic | Likely Pathogenic | <5 | | 30682568, 34806794 | Intron 15 |
PHEX_0501 | c.1645+5G>A | p.? | PHEX | Splicing | Intronic, Frameshift | Pathogenic | 5-10 | Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities | 11502829, 16636593, 31102713, 33639975, 19219621, 34141703, 34806794 | Intron 15 |
PHEX_0502 | c.1645+6T>C | p.? | PHEX | Splicing | Intronic | Pathogenic | <5 | | 18625346, 31102713, 34806794 | Intron 15 |
PHEX_1064 | c.1646-1493C>A | p.? | PHEX | Splicing | Intronic | Benign | <5 | | 20672378 | Intron 15 |
PHEX_0875 | c.1646-46T>C | p.? | PHEX | Splicing | Intronic | Benign | <5 | bowed or bent legs, short stature, deformation of chest, widening of the distal parts of the forearms | 33295632, 34806794 | Intron 15 |
PHEX_0515 | c.1646-2A>G | p.? | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities | 16261449, 34806794 | Intron 15 |
PHEX_0510 | c.1646-2A>T | p.? | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | Lower Limb Deformities | 28506344, 24836714, 34141703, 34806794 | Intron 15 |
PHEX_0519 | c.1646-1G>C | Splice acceptor | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | | 34806794 | Intron 15 |
PHEX_0517 | c.1646_?del | p.Arg549_?del | PHEX | Small deletion | Deletion | Uncertain Significance | <5 | radiological signs of rickets, abnormal bone development | 30607568, 33639975, 34806794 | Exon 16 |
PHEX_0521 | c.1646-?_1768+?del | Deletion (Exons 16-17) | PHEX | Small deletion | Deletion | Pathogenic | <5 | | 9768674, 16636593, 34806794 | Exon 16 - 17 |
PHEX_0518 | c.1646G>C | p.Arg549Pro | PHEX | SNV | Missense | Pathogenic | 5-10 | Other Musculoskeletal Abnormalities, Bone and/or Joint Pain and/or Joint Stiffne.... | 22577109, 25839938, 18625346, 34806794 | Exon 15 - 16 |
PHEX_1126 | c.1646-?_1899+?del | Deletion (Exons 16-18) | PHEX | | Deletion | UNKNOWN | <5 | | 32253725 | Exon 16 - 18 |
PHEX_0508 | c.1646-?_1700+?del | Deletion (Exon 16) | PHEX | CNV | Deletion | Pathogenic | 5-10 | | 29460029, 31474501, 34141703, 34806794 | Exon 16 |
PHEX_0507 | c.1646-?_2070+?del | Deletion (Exons 16-20) | PHEX | CNV | Deletion | Pathogenic | <5 | | 34806794 | Intron 15 |
PHEX_0516 | c.1646-?_2070+?dup | Gain (Exons 16-20) | PHEX | CNV | Duplication | Uncertain Significance | <5 | | 22695891, 34806794 | Exon 16 - 20 |
PHEX_0512 | c.1646-?_*3357+?del | Deletion (Exons 16-22) | PHEX | CNV | Deletion | Pathogenic | 5-10 | nephrocalcinosis, hyperparathyroidism, abnormal bone development | 24926462, 29460029, 31474501, 22695891, 23079138, 21902834, 34141703, 34806794 | Exon 16 - 22 |
PHEX_1065 | c.1650_1652delTCCinsAGGGTTAGGGTTAGGGTTTAGAGTTAGGGTTAGGGTTAGGGTT | p.Phe550Leufs*45 | PHEX | Deletion/Insertion | Frameshift | Likely Pathogenic | <5 | abnormal bone development, pectus carinatum, bowed or bent leg | 32253725 | Exon 16 |
PHEX_0523 | c.1654G>A | p.Ala552Thr | PHEX | SNV | Missense | Uncertain Significance | <5 | | 21902834, 34806794 | Exon 16 |
PHEX_0524 | c.1657G>T | p.Gly553* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 26377240, 34806794 | Exon 16 |
PHEX_0525 | c.1658G>A | p.Gly553Glu | PHEX | SNV | Missense | Pathogenic | <5 | bowed or bent legs, dental caries | 21050253, 32329911, 34806794 | Exon 16 |
PHEX_0526 | c.1660G>T | p.Glu554* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34806794 | Exon 16 |
PHEX_0527 | c.1664T>C | p.Leu555Pro | PHEX | SNV | Missense | Pathogenic | 11-20 | Lower Limb Deformities | 9768646, 16636593, 19219621, 34806794 | Exon 16 |
PHEX_0528 | c.1666C>T | p.Gln556* | PHEX | SNV | Nonsense | Pathogenic | 5-10 | abnormal bone development, bowed or bent leg, short stature | 31658436, 32253725, 34806794 | Exon 16 |
PHEX_0529 | c.1670del | p.Lys557Serfs*13 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 29460029, 34806794 | Exon 16 |
PHEX_0530 | c.1672C>G | p.Pro558Ala | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 18046499, 23813354, 21293852, 24857004, 34806794 | Exon 16 |
PHEX_0532 | c.1681_1682insAlu | p.Phe560fs | PHEX | Small insertion | Frameshift | Pathogenic | <5 | | 34806794 | Exon 16 |
PHEX_1066 | c.1682G>A | p.Trp561* | PHEX | SNV | Nonsense | Pathogenic | <5 | | | Exon 16 |
PHEX_0533 | c.1683G>A | p.Trp561* | PHEX | SNV | Nonsense | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 19219621, 34806794 | Exon 16 |
PHEX_0534 | c.1684G>T | p.Gly562* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 15057978, 34806794 | Exon 16 |
PHEX_0536 | c.1685del | p.Gly562Glufs*8 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 18625346, 34806794 | Exon 16 |
PHEX_0535 | c.1685dup | p.Thr563Asnfs*19 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 34806794 | Exon 16 |
PHEX_0537 | c.1692del | p.Glu564Aspfs*6 | PHEX | Small deletion | Frameshift | Pathogenic | 5-10 | Short Stature, Lower Limb Deformities | 31537998, 34806794 | Exon 16 |
PHEX_0522 | c.1694del | p.Tyr565Phefs*5 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Lower Limb Deformities | 24836714, 34141703, 34806794 | Exon 16 |
PHEX_0538 | c.1695T>A | p.Tyr565* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34806794 | Exon 16 |
PHEX_0539 | c.1699C>T | p.Arg567* | PHEX | SNV | Nonsense | Pathogenic | 30+ | Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait Abnormalities,.... | 16303832, 32329911, 29460029, 21994957, 21293852, 29901142, 21050253, 30599486, 25894638, 22261628, 18162710, 18625346, 22101457, 24229582, 33639975, 19219621, 24857004, 34141703, 34806794 | Exons 16-17 |
PHEX_0541 | c.1700G>A | | PHEX | Splicing | Unknown | Pathogenic | <5 | | 9097956, 34806794 | Exon 16 |
PHEX_0544 | c.1700G>C | p.Arg567Pro | PHEX | SNV | Missense | Pathogenic | <5 | Reduced Serum Phosphate | 21994957, 16636593, 34806794 | Exons 16-17 |
PHEX_0545 | c.1700+1G>A | p.? | PHEX | Splicing | Splice donor | Pathogenic | 5-10 | Other Musculoskeletal Abnormalities, Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities | 19219621, 34806794 | Intron 16 |
PHEX_0543 | c.1700+1G>C | Splice donor | PHEX | Splicing | Splice donor | Pathogenic | <5 | Gait Abnormalities, Lower limb deformities, Lower Limb Deformities | 34806794 | Intron 16 |
PHEX_0542 | c.1700+1G>T | Splice donor | PHEX | Splicing | Splice donor | Pathogenic | 5-10 | Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries | 34806794 | Intron 16 |
PHEX_0877 | c.1700+2T>C | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | | 16636593, 9199930, 33666701, 34806794 | Intron 16 |
PHEX_0876 | c.1700+5G>A | Intronic | PHEX | Splicing | Splice donor | Likely Pathogenic | <5 | Reduced_TmP/GFR_(34806794 | Intron 16 | |
PHEX_0546 | c.1701-16T>A | p.? | PHEX | Splicing | Intronic | Pathogenic | 5-10 | | 31102713, 31821448, 9097956, 34806794 | Intron 16 |
PHEX_0550 | c.1701-2A>G | Splice acceptor | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | | 34806794 | Intron 16 |
PHEX_0553 | c.1701-2A>T | Splice acceptor | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | | 34806794 | Intron 16 |
PHEX_0548 | c.1701-1del | Splice acceptor | PHEX | Splicing | Splice acceptor | Likely Pathogenic | <5 | Gait Abnormalities, Lower Limb Deformities | 34806794 | Intron 16 |
PHEX_0552 | c.1701-?_1899+?del | Deletion (Exons 17-18) | PHEX | CNV | Deletion | Pathogenic | <5 | Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities | 32329911, 34806794 | Exons 17-18 |
PHEX_0547 | c.1701-?_2070+?del | Deletion (Exons 17-20) | PHEX | CNV | Deletion | Pathogenic | <5 | Lower Limb Deformities, hyperparathyroidism, abnormal bone development | 23079138, 24926463, 24926462, 21902834, 34806794 | Exons 17-20 |
PHEX_0549 | c.1701-?_*3357+?del | Deletion (Exons 17-22) | PHEX | CNV | Deletion | Pathogenic | <5 | Lower Limb Deformities | 16636593, 33295633, 32329911, 9199930, 34806794 | Exons 17-22 |
PHEX_0554 | c.1702T>C | p.Ser568Pro | PHEX | Splicing | Intronic | Uncertain Significance | <5 | Gait Abnormalities, Lower Limb Deformities | 34806794 | Exon 17 |
PHEX_0555 | c.1705_1706del | p.Leu569Glufs*12 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 21050253, 34806794 | Exon 17 |
PHEX_0878 | c.1706T>G | p.Leu569Arg | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 33639975, 34806794 | Exon 17 |
PHEX_0879 | c.1707_1710dup | p.Tyr571Glufs*12 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 34806794 | Exon 17 |
PHEX_0556 | c.1708del | p.Ser570Valfs*5 | PHEX | Small deletion | Deletion | Pathogenic | <5 | | 34806794 | Exon 17 |
PHEX_0557 | c.1713T>G | p.Tyr571* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34806794 | Exon 17 |
PHEX_0558 | c.1714G>A | p.Gly572Ser | PHEX | SNV | Missense | Pathogenic | 5-10 | bowed or bent legs, Lower Limb Deformities, Fractures/Pseudo-Fractures | 30238432, 32329911, 34806794 | Exon 17 |
PHEX_0559 | c.1714G>C | p.Gly572Arg | PHEX | SNV | Missense | Uncertain Significance | <5 | | 34806794 | Exon 17 |
PHEX_0561 | c.1715G>A | p.Gly572Asp | PHEX | SNV | Missense | Pathogenic | 11-20 | Reduced Serum Phosphate, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities | 11502829, 23079138, 16055933, 16636593, 24926462, 18162710, 30599486, 34806794 | Exon 17 |
PHEX_0560 | c.1715G>T | p.Gly572Val | PHEX | SNV | Missense | Likely Pathogenic | <5 | abnormal bone development, pectus carinatum, bowed or bent leg | 32253725, 34806794 | Exon 17 |
PHEX_0562 | c.1718C>A | p.Ala573Asp | PHEX | SNV | Missense | Likely Pathogenic | <5 | Other Musculoskeletal Abnormalities | 10439971, 16636593, 24926462, 23079138, 34806794 | Exon 17 |
PHEX_0563 | c.1721T>A | p.Ile574Lys | PHEX | SNV | Missense | Likely Pathogenic | <5 | Short Stature, Bone Density Abnormalities, Lower Limb Deformities | 29393334, 34806794 | Exon 17 |
PHEX_0880 | c.1723_1727dup | p.Ile577Glufs*2 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 32329911, 34806794 | Exon 17 |
PHEX_0564 | c.1723G>A | p.Gly575Arg | PHEX | SNV | Missense | Likely Pathogenic | <5 | Reduced Serum Phosphate | 34806794 | Exon 17 |
PHEX_0565 | c.1724G>A | p.Gly575Glu | PHEX | SNV | Missense | Pathogenic | <5 | | 33049132, 34806794 | Exon 17 |
PHEX_0566 | c.1727_1738del | p.Val576_His580delinsAsp | PHEX | Small deletion | Deletion/Insertion | Likely Pathogenic | 5-10 | | 21050253, 34806794 | Exon 17 |
PHEX_0567 | c.1728_1731dup | p.Val578Asnfs*5 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 22695891, 34806794 | Exon 17 |
PHEX_0568 | c.1735G>A | p.Gly579Arg | PHEX | SNV | Missense | Pathogenic | 30+ | Other Musculoskeletal Abnormalities, Reduced_TmP/GFR_( | 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 | Exon 17 |
PHEX_0570 | c.1735G>C | p.Gly579Arg | PHEX | SNV | Missense | Pathogenic | <5 | | 9199930, 11468271, 24926462, 24684036, 12727977, 20838491, 34806794 | Exon 17 |
PHEX_0881 | c.1735G>T | p.Gly579* | PHEX | SNV | Nonsense | Pathogenic | <5 | Fractures/pseudo-fractures, Lower limb deformities | 34806794 | Exon 17 |
PHEX_0569 | c.? | p.Gly579Arg | PHEX | SNV | Missense | Pathogenic | 11-20 | Other Musculoskeletal Abnormalities | 10439971, 15470265, 23813354, 30682568, 10874297, 9097956, 25894638, 18046499, 12111239, 21604088, 27221261, 34806794 | Exon 17 |
PHEX_0571 | c.1736G>T | p.Gly579Val | PHEX | SNV | Missense | Likely Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 10439971, 11502829, 23079138, 16636593, 24926462, 12727977, 34806794 | Exon 17 |
PHEX_0572 | c.1738C>G | p.His580Asp | PHEX | SNV | Missense | Likely Pathogenic | <5 | Lower Limb Deformities | 34806794 | Exon 17 |
PHEX_0573 | c.1739A>C | p.His580Pro | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 22101457, 29460029, 34806794 | Exon 17 |
PHEX_0574 | c.1742A>T | p.Glu581Val | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 11468271, 11311133, 12727977, 34806794 | Exon 17 |
PHEX_0882 | c.1750C>T | p.His584Tyr | PHEX | SNV | Missense | Pathogenic | <5 | Lower limb deformities, Tooth abscesses and/or excessive dental caries, Reduced Serum Phosphate | 34806794 | Exon 17 |
PHEX_0575 | c.1751A>C | p.His584Pro | PHEX | SNV | Missense | Uncertain Significance | <5 | Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 24836714, 34141703, 34806794 | Exon 17 |
PHEX_0883 | c.1753G>A | p.Gly585Arg | PHEX | SNV | Missense | Likely Pathogenic | <5 | Lower limb deformities, Reduced Serum Phosphate | 34806794 | Exon 17 |
PHEX_0576 | c.1757T>C | p.Phe586Ser | PHEX | SNV | Missense | Pathogenic | <5 | Lower Limb Deformities | 18625346, 34806794 | Exon 17 |
PHEX_0577 | c.1765_1768del | p.Asn589Valfs*29 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait abnormalities,.... | 19219621, 34806794 | Exon 17 |
PHEX_1067 | c.1768G > A | p. G590S | PHEX | SNV | Missense | UNKNOWN | <5 | short stature, gene varum, osteoarthritis | 35251124 | Exon 17 |
PHEX_0540 | c.1768+?ins | | PHEX | Splicing | Unknown | Pathogenic | <5 | | 9768674, 34806794 | Intron 17 |
PHEX_0579 | c.1768+1del | Splice donor | PHEX | Splicing | Splice donor | Likely Pathogenic | <5 | | 34806794 | Intron 17 |
PHEX_0585 | c.1768+1G>A | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | Lower Limb Deformities | 10439971, 16636593, 28383812, 34806794 | Intron 17 |
PHEX_0578 | c.1768+1G>C | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | | 18625346, 16636593, 34806794 | Intron 17 |
PHEX_1068 | c.1768+1G>T | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | | 34141703 | Intron 17 |
PHEX_0531 | c.1768+? Poly T | | PHEX | SNV | Unknown | Pathogenic | <5 | | 9768674, 34806794 | Intron 17 |
PHEX_0584 | c.1768+2del | Splice donor | PHEX | Splicing | Splice donor | Pathogenic | <5 | | 34806794 | Intron 17 |
PHEX_0581 | c.1768+2dup | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | | 19219621, 34806794 | Intron 17 |
PHEX_1069 | c.1768+2T>C | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | abnormal bone development, pectus carinatum, bowed or bent leg, short stature | 32253725 | Intron 17 |
PHEX_0586 | c.1768+2T>G | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | Bone and/or Joint Pain and/or Joint Stiffness, Short Stature, Lower Limb Deformities | 24836714, 31102713, 32257293, 33666701, 34141703, 34806794 | Intron 17 |
PHEX_0580 | c.1768+3_1768+4insT | p.? | PHEX | Splicing | Intronic | Uncertain Significance | <5 | | 15057978, 34806794 | Intron 17 |
PHEX_0583 | c.1768+4_1768+7del | Intronic | PHEX | Splicing | Intronic | Uncertain Significance | <5 | | 34806794 | Intron 17 |
PHEX_0588 | c.1768+5G>A | p.? | PHEX | Splicing | Intronic | Pathogenic | 5-10 | Gait Abnormalities, Lower limb deformities, Lower Limb Deformities | 15057978, 24926462, 18162710, 31102713, 23079138, 34806794 | Intron 17 |
PHEX_0587 | c.1768+177_1768+180dup | p.? | PHEX | Splicing | Intronic | Uncertain Significance | <5 | Short Stature, Other Musculoskeletal Abnormalities | 24926462, 21902834, 34806794 | Intron 17 |
PHEX_0885 | c.1769-10C>T | p.? | PHEX | Splicing | Intronic | Benign | <5 | | 33295632, 34141703, 34806794, 19219621, 24489884 | Intron 17 |
PHEX_1070 | c.1769-6_1784dup | Intronic | PHEX | Small insertion | Nonsense | Uncertain Significance | <5 | | | Exon 18 |
PHEX_0884 | c.1769-2A>G | Splice acceptor | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | Reduced Serum Phosphate, Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries | 34806794 | Intron 17 |
PHEX_0886 | c.1769-2del | p.? | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | | 32257293, 34806794 | Intron 17 |
PHEX_0591 | c.1769-1G>A | p.Gly590Glufs*28 | PHEX | Splicing | Splice acceptor, Frameshift | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Short Stature, Lower Limb Deformities, Bone Density Abnormalities | 30599486, 26559751, 34806794 | Intron 17, exons 17-18 |
PHEX_0589 | c.1769-1G>C | p.? | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | Gait abnormalities, Lower limb deformities, Short Stature | 21050253, 31102713, 34806794 | Intron 17 |
PHEX_1138 | c.? | Deletion (Exons 18-20) | PHEX | Deletion | | Pathogenic | <5 | Gait abnormalities, Lower limb deformities, Short Stature | | Exons 18-20 |
PHEX_1127 | c.1769-?_1899+?del | Deletion (Exon 18) | PHEX | Deletion | | Pathogenic | <5 | | | Intron 17 |
PHEX_0590 | c.1769-?_2070+?dup | Gain (Exons 18-20) | PHEX | CNV | Duplication | Likely Pathogenic | <5 | | 34806794 | Intron 17 |
PHEX_0592 | c.1775_1778dup | p.Tyr593* | PHEX | Small duplication | Nonsense | Pathogenic | <5 | | 29460029, 34806794 | Exon 18 |
PHEX_0594 | c.1779_1782dup | p.Lys595* | PHEX | Small duplication | Nonsense | Pathogenic | <5 | bowed or bent legs | 32329911, 19219621, 34806794 | Exon 18 |
PHEX_0593 | c.1779T>A | p.Tyr593* | PHEX | SNV | Nonsense | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities, abnormal bone development, bowed or bent leg, short stature | 19219621, 32253725, 34806794 | Exon 18 |
PHEX_0595 | c.1779T>G | p.Tyr593* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34806794 | Exon 18 |
PHEX_0597 | c.1783_1784insTGAT | p.Lys595Metfs*13 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | | 16636593, 23813354, 9199930, 34806794 | Exon 18 |
PHEX_1112 | c.1783A>T | p.Lys595* | PHEX | SNV | Nonsense | Pathogenic | <5 | short stature, Chiari malformation, Dolichocephaly | 32253725 | Exon 18 |
PHEX_0598 | c.1787dup | p.Asn596Lysfs*11 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | | 16636593, 34806794 | Exon 18 |
PHEX_0599 | c.1789G>T | p.Gly597* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34806794 | Exon 18 |
PHEX_0600 | c.1800dup | p.Pro601Serfs*6 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 34806794 | Exon 18 |
PHEX_0602 | c.1802del | p.Pro601Leufs*18 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 16636593, 34806794 | Exon 18 |
PHEX_0603 | c.1805G>A | p.Trp602* | PHEX | SNV | Nonsense | Pathogenic | <5 | Short Stature, Fractures/Pseudo-Fractures, Lower Limb Deformities, Kidney Diseas.... | 25983897, 34806794 | Exon 18 |
PHEX_0606 | c.1806G>A | p.Trp602* | PHEX | SNV | Nonsense | Pathogenic | 5-10 | Short Stature, Other Musculoskeletal Abnormalities, Lower Limb Deformities | 19513579, 28383812, 19219621, 34141703, 34806794 | Exon 18 |
PHEX_0604 | c.1806del | p.Trp602Cysfs*17 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 34806794 | Exon 18 |
PHEX_0605 | c.1806dup | p.Trp603Valfs*4 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 34806794 | Exon 18 |
PHEX_0608 | c.1809_1816del | p.Trp603* | PHEX | Small deletion | Nonsense | Pathogenic | <5 | | 18625346, 16636593, 34806794 | Exon 18 |
PHEX_0607 | c.1809G>A | p.Trp603* | PHEX | SNV | Nonsense | Pathogenic | 5-10 | Gait abnormalities, Lower limb deformities, Short Stature | 23813354, 21293852, 18046499, 19513579, 24857004, 34806794 | Exon 18 |
PHEX_0887 | c.1812del | p.Thr605Leufs*14 | PHEX | Small deletion | Frameshift | Pathogenic | 5-10 | Reduced_TmP/GFR_(34806794 | Exon 18 | |
PHEX_0609 | c.1818_1821dup | p.Glu608Ilefs*6 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | Gait Abnormalities, Lower Limb Deformities | 34806794 | Exon 18 |
PHEX_0610 | c.1825_1828dup | p.Lys610Argfs*4 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | | 32329911, 34806794 | Exon 18 |
PHEX_0611 | c.1825G>T | p.Glu609* | PHEX | SNV | Nonsense | Pathogenic | <5 | Short Stature, Other Musculoskeletal Abnormalities | 21902834, 24926462, 23079138, 21293852, 34806794 | Exon 18 |
PHEX_0612 | c.1826_1830del | p.Glu609Valfs*2 | PHEX | Small deletion | Frameshift | Pathogenic | 5-10 | Tooth Abscesses and/or Excessive Dental Caries, Short Stature, Lower Limb Deformities | 16636593, 24926462, 23079138, 21293852, 24857004, 34806794 | Exon 18 |
PHEX_0613 | c.1828_1829dup | p.Phe611Serfs*9 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 34806794 | Exon 18 |
PHEX_0614 | c.1828_1832dup | p.Phe611Leufs*10 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | Reduced_TmP/GFR_(34806794 | Exon 18 | |
PHEX_0615 | c.1830del | p.Lys610Asnfs*9 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 22101457, 29460029, 34806794 | Exon 18 |
PHEX_0616 | c.1832_1833del | p.Phe611* | PHEX | Small deletion | Nonsense | Pathogenic | <5 | | 9199930, 16636593, 34806794 | Exon 18 |
PHEX_0617 | c.1843del | p.Thr615Glnfs*4 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Lower limb deformities | 23813354, 21293852, 24857004, 34806794 | Exon 18 |
PHEX_0618 | c.1843dup | p.Thr615Asnfs*6 | PHEX | Small insertion | Frameshift | Pathogenic | 5-10 | short stature, teeth falling out, deformities of the long bones, difficulty walking | 19219621, 27840894, 34141703, 34806794 | Exon 18 |
PHEX_0889 | c.1844_1845del | p.Thr615Lysfs*5 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 32329911, 34806794 | Exon 18 |
PHEX_1071 | c.1844_1845dup | p.Lys616Glnfs*4 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | abnormal dental development, bowed or bent legs, stunted growth, abnormal bone development | 30406928 | Exon 18 |
PHEX_0620 | c.1844_1847dup | p.Lys616Asnfs*6 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | abnormal bone development, bowed or bent leg | 21050253, 32253725, 34806794 | Exon 18 |
PHEX_0622 | c.1847_1848del | p.Lys616Metfs*4 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Lower Limb Deformities | 34806794 | Exon 18 |
PHEX_0623 | c.1848del | p.Lys616Asnfs*3 | PHEX | Small deletion | Frameshift | Pathogenic | 11-20 | | 18625346, 20157195, 34806794 | Exon 18 |
PHEX_0624 | c.1848dup | p.Cys617Metfs*4 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | | 16636593, 34806794 | Exon 18 |
PHEX_0625 | c.1850G>T | p.Cys617Phe | PHEX | SNV | Missense | Uncertain Significance | <5 | Gait Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities | 34806794 | Exon 18 |
PHEX_0626 | c.1854_1857dup | p.Asn620Aspfs*2 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 19219621, 34806794 | Exon 18 |
PHEX_0630 | c.1859_1862dup | p.Tyr622Profs*3 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | | 26051471, 34806794 | Exon 18 |
PHEX_0628 | c.1861C>T | p.Gln621* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 22101457, 22913777, 24857004, 34806794 | Exon 18 |
PHEX_0629 | c.1862A>G | p.Gln621Arg | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 9768674, 16636593, 21604088, 34806794 | Exon 18 |
PHEX_1113 | c.1863_1870del | p.Tyr622Leufs*22 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 34141703 | Exon 18 |
PHEX_1072 | c.1864T>C | p.Tyr622His | PHEX | SNV | Missense | Uncertain Significance | <5 | Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature | | Exon 18 |
PHEX_0890 | c.1873_1876dup | p.Tyr626Leufs*22 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | Reduced_TmP/GFR_(34806794 | Exon 18 | |
PHEX_0631 | c.1874_1875dup | p.Tyr626Ilefs*8 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 29460029, 34806794 | Exon 18 |
PHEX_0891 | c.1875_1882dup | p.Lys628Ilefs*8 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | Lower limb deformities, Reduced Serum Phosphate | 34806794 | Exon 18 |
PHEX_0632 | c.1875T>G | p.Tyr625* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34806794 | Exon 18 |
PHEX_0633 | c.1880G>A | p.Trp627* | PHEX | SNV | Nonsense | Pathogenic | <5 | Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries | 34806794 | Exon 18 |
PHEX_0635 | c.? | p.Trp627* | PHEX | SNV | Nonsense | Pathogenic | <5 | radiological signs of rickets, bowed or bent legs, waddling gait, fraying of the distal metaphyseal line of both femurs and tibiae, nephrocalcinosis | 19242361, 27221261, 34806794 | Exon 18 |
PHEX_0634 | c.1881G>A | p.Trp627* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 16636593, 15057978, 34806794 | Exon 18 |
PHEX_1073 | c.1885_1888dup | p.Ala630Glufs*18 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | Bone and/or joint pain and/or joint stiffness, Lower limb deformities | | Exon 18 |
PHEX_1074 | c.1895_1899+18del | p.? | PHEX | Small deletion | Splice donor | Pathogenic | <5 | abnormal bone development, radiological signs of rickets | 19219621 | Exon 18, Intron 18 |
PHEX_0638 | c.1899+1G>A | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait abnormalities, Lower limb deformities | 19219621, 34806794 | Intron 18 |
PHEX_0639 | c.1899+1G>T | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | | 21050253, 31102713, 34806794 | Intron 18 |
PHEX_0637 | c.1899+2T>A | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | | 31102713, 21293852, 24857004, 34806794 | Intron 18 |
PHEX_0636 | c.1899+3G>C | Intronic | PHEX | Splicing | Intronic | Uncertain Significance | <5 | Fractures/Pseudo-Fractures, Lower Limb Deformities | 34806794 | Intron 18 |
PHEX_0640 | c.1899+5G>A | p.? | PHEX | Splicing | Intronic | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 31102713, 19219621, 34806794 | Intron 18 |
PHEX_1075 | c.1900-29_1900-28insATT | p.? | PHEX | Small insertion | Intronic | Uncertain Significance | <5 | | 19219621 | Intron 18 |
PHEX_0642 | c.1900-1G>A | p.? | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate | 16261449, 34806794 | Intron 18 |
PHEX_0641 | c.1900-?_*3357+?del | Deletion (Exons 19-22) | PHEX | CNV | Deletion | Uncertain Significance | <5 | | 16636593, 9199930, 34806794 | Exons 19-22 |
PHEX_0892 | c.1900-?_1965+?del | Deletion (Exon 19) | PHEX | CNV | Deletion | Pathogenic | <5 | Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate | 34806794 | Intron 18 |
PHEX_0643 | c.1900-?_2070+?del | Deletion (Exons 19-20) | PHEX | CNV | Deletion | Pathogenic | <5 | | 34141703, 34806794 | Intron 18 |
PHEX_0644 | c.1919T>C | p.Leu640Pro | PHEX | SNV | Missense | Pathogenic | 5-10 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 19219621, 33666701, 34806794 | Exon 19 |
PHEX_0893 | c.1921G>T | p.Gly641* | PHEX | SNV | Nonsense | Pathogenic | <5 | Gait abnormalities, Lower limb deformities | 34806794 | Exon 19 |
PHEX_0646 | c.1927_1930dup | p.Ile644Lysfs*4 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 19219621, 34806794 | Exon 19 |
PHEX_0647 | c.1929del | p.Asn643Lysfs*19 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 16636593, 34806794 | Exon 19 |
PHEX_0648 | c.1933G>A | p.Ala645Thr | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 34806794 | Exon 19 |
PHEX_0649 | c.1935_1938dup | p.Asn647* | PHEX | Small duplication | Nonsense | Pathogenic | 5-10 | Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Fractures/Pseudo-Fractures | 34806794 | Exon 19 |
PHEX_0895 | c.1936_?del | p.Asp646_?del | PHEX | Small deletion | Deletion | UNKNOWN | <5 | | 32133333, 34806794 | Exon 19 |
PHEX_0652 | c.1936_1938del | p.Asp646del | PHEX | Small deletion | Deletion | Likely Pathogenic | <5 | Short Stature, Other Musculoskeletal Abnormalities | 24926462, 23079138, 21902834, 34806794 | Exon 19 |
PHEX_0894 | c.1936del | p.Asp646Ilefs*16 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 33639975, 34806794 | Exon 19 |
PHEX_0651 | c.1936_1939dup | p.Asn647Argfs*2 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 16636593, 11502829, 34806794 | Exon 19 |
PHEX_0650 | c.1936G>A | p.Asp646Asn | PHEX | SNV | Missense | Likely Pathogenic | <5 | Skull Deformities, Short Stature | 21050253, 34806794 | Exon 19 |
PHEX_0653 | c.1936G>C | p.Asp646His | PHEX | SNV | Missense | Likely Pathogenic | <5 | Gait abnormalities | 34806794 | Exon 19 |
PHEX_0654 | c.1936G>T | p.Asp646Tyr | PHEX | SNV | Missense | Uncertain Significance | <5 | | 34806794 | Exon 19 |
PHEX_1076 | c.1937A>G | p.Asp646Gly | PHEX | SNV | Missense | Pathogenic | <5 | | | Exon 19 |
PHEX_0658 | c.1942G>A | p.Gly648Arg | PHEX | SNV | Missense | Uncertain Significance | <5 | | 34806794 | Exon 19 |
PHEX_0657 | c.1942G>C | p.Gly648Arg | PHEX | SNV | Missense | Uncertain Significance | <5 | | 34806794 | Exon 19 |
PHEX_0659 | c.1942G>T | p.Gly648* | PHEX | SNV | Nonsense | Pathogenic | <5 | Skull Deformities, Other Musculoskeletal Abnormalities, Lower Limb Deformities | 26051471, 34806794 | Exon 19 |
PHEX_0660 | c.1946G>A | p.Gly649Asp | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 22577109, 23312231, 34806794 | Exon 19 |
PHEX_0896 | c.1949T>C | p.Leu650Pro | PHEX | SNV | Missense | Uncertain Significance | 5-10 | abnormal bone development, genu varum, bowed or bent leg, short stature | 32252220, 34011663, 34806794 | Exon 19 |
PHEX_1077 | c.1951del | p.Arg651Glyfs*11 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Lower limb deformities, Short Stature, Gait abnormalities, Lower limb deformities, Short Stature | | Exon 19 |
PHEX_0663 | c.1956_1957insGCTTGGGAA | p.Ala653_Phe654insTrpGluAla | PHEX | Small insertion | Insertion | Likely Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 19219621, 34806794 | Exon 19 |
PHEX_0662 | c.1952G>C | p.Arg651Pro | PHEX | SNV | Missense | Pathogenic | 5-10 | Other Musculoskeletal Abnormalities, genu varum, bowed or bent leg, coxa vara, arthritis, hip dysplasia | 10439971, 9199930, 32329911, 23079138, 16636593, 24926462, 21902834, 33639975, 25894638, 10874297, 21553362, 34806794 | Exon 19 |
PHEX_0661 | c.1954_1965del | p.Glu652_Arg655del | PHEX | Small deletion | Deletion | Likely Pathogenic | <5 | | 16636593, 18162710, 16055933, 34806794 | Exon 19 |
PHEX_0664 | c.1958C>A | p.Ala653Asp | PHEX | SNV | Missense | Uncertain Significance | <5 | | 22101457, 29460029, 33049132, 34806794 | Exon 19 |
PHEX_0665 | c.1960T>A | p.Phe654Ile | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 34806794 | Exon 19 |
PHEX_0666 | c.1961_1963delTTAins | p.Phe654Serfs*8 | PHEX | Small insertion | Deletion/Insertion | Pathogenic | <5 | | 34806794 | Exon 19 |
PHEX_0897 | c.1961T>C | p.Phe654Ser | PHEX | SNV | Missense | Likely Pathogenic | <5 | | 33639975, 34806794 | Exon 19 |
PHEX_0898 | c.1962dup | p.Arg655* | PHEX | Small duplication | Nonsense | Pathogenic | <5 | | 32329911, 34806794 | Exon 19 |
PHEX_0668 | c.1965+1G>A | p.? | PHEX | Splicing | Splice donor | Pathogenic | 5-10 | Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities | 10439971, 29460029, 9097956, 16636593, 24926462, 18162710, 21902834, 30599486, 19219621, 23079138, 34806794 | Intron 19 |
PHEX_0667 | c.1965+1G>T | p.? | PHEX | Splicing | Splice donor | Pathogenic | <5 | Short Stature, Lower Limb Deformities | 25115781, 34806794 | Intron 19 |
PHEX_0670 | c.1966-1G>C | Splice acceptor | PHEX | Splicing | Splice acceptor | Pathogenic | <5 | | 34141703, 34806794 | Intron 19 |
PHEX_0669 | c.1966_1969dup | p.Tyr657Cysfs*8 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 34806794 | Exon 20 |
PHEX_0672 | c.1967_?del | p.Asp657_?del | PHEX | Small deletion | Deletion | Uncertain Significance | <5 | radiological signs of rickets, short stature, abnormal bone development | 30607568, 33639975, 34806794 | Exon 20 |
PHEX_0671 | c.1967_2025del | p.Ala656Aspfs*41 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 25086671, 21050253, 34806794 | Exon 20 |
PHEX_0899 | c.1966-?_2070+?del | Deletion (Exon 20) | PHEX | CNV | Deletion | Likely Pathogenic | <5 | Gait abnormalities, Lower limb deformities, Tooth abscesses and/or excessive dental caries | 34806794 | Intron 19 |
PHEX_0673 | c.1970A>G | p.Tyr657Cys | PHEX | SNV | Missense | Pathogenic | <5 | Other Musculoskeletal Abnormalities, abnormal bone development, short stature, Lower Limb Deformities | 29707405, 19219621, 34806794 | Exon 20 |
PHEX_0900 | c.1971C>G | p.Tyr657* | PHEX | SNV | Nonsense | Pathogenic | <5 | Fractures/pseudo-fractures, Lower limb deformities | 34806794 | Exon 20 |
PHEX_0674 | c.1973_1984dup | p.Arg658_Ile661dup | PHEX | Small duplication | Insertion | Uncertain Significance | <5 | Lower Limb Deformities | 34806794 | Exon 20 |
PHEX_0675 | c.1978_1988del | p.Trp660Glnfs*6 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 29460029, 34806794 | Exon 20 |
PHEX_0901 | c.1979_1995dup | p.Gln666Glyfs*2 | PHEX | Small duplication | Frameshift | Pathogenic | <5 | | 32329911, 34806794 | Exon 20 |
PHEX_0676 | c.1979G>A | p.Trp660* | PHEX | SNV | Nonsense | Pathogenic | 5-10 | | 16636593, 9199930, 29707405, 34141703, 34806794 | Exon 20 |
PHEX_0677 | c.1980G>A | p.Trp660* | PHEX | SNV | Nonsense | Pathogenic | <5 | Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 24836714, 34806794 | Exon 20 |
PHEX_0902 | c.1982_1986dup | p.Asp663* | PHEX | Small duplication | Nonsense | Pathogenic | <5 | Lower limb deformities, Tooth abscesses and/or excessive dental caries, Reduced Serum Phosphate | 34806794 | Exon 20 |
PHEX_1078 | c.1985del | p.Asn662Metfs*25 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Short Stature | | Exon 20 |
PHEX_0904 | c.1986_1987insTGAC | p.Asp663* | PHEX | Splicing | Nonsense | Pathogenic | <5 | | 24926462, 23079138, 16636593, 34806794, 10439971 | Exon 20 |
PHEX_0903 | c.1986_1989dup | p.Arg664* | PHEX | Small duplication | Nonsense | Pathogenic | <5 | | 32329911, 34806794 | Exon 20 |
PHEX_0678 | c.1989_1990del | p.Asp663Glufs*6 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 10439971, 19219621, 34806794 | Exon 20 |
PHEX_0680 | c.1991_1992insTGAC | p.Arg664Serfs*7 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | | 24926462, 23079138, 15057978, 9199930, 16636593, 34806794 | Exon 20 |
PHEX_0681 | c.1993del | p.Arg665Glyfs*22 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 16636593, 11502829, 34806794 | Exon 20 |
PHEX_0682 | c.1996_2008del | p.Gln666Serfs*17 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 16636593, 18162710, 16055933, 34806794 | Exon 20 |
PHEX_0683 | c.1999G>T | p.Gly667* | PHEX | SNV | Nonsense | Pathogenic | <5 | | 34806794 | Exon 20 |
PHEX_0684 | c.2000del | p.Gly667Aspfs*20 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries | 34806794 | Exon 20 |
PHEX_1079 | c.2002_2006dup | p.Glu669Aspfs*20 | PHEX | Small insertion | Frameshift | Pathogenic | <5 | abnormal bone development, pectus carinatum, bowed or bent leg | 34141703, 32253725 | Exon 20 |
PHEX_0685 | c.2004_2018del | p.Glu669_Leu673del | PHEX | Small deletion | Deletion | Uncertain Significance | <5 | | 34806794 | Exon 20 |
PHEX_0905 | c.2005_2016del | p.Glu669_Leu672del | PHEX | Small deletion | Deletion | Uncertain Significance | <5 | | 34806794 | Exon 20 |
PHEX_0687 | c.2008G>A | p.Glu670Lys | PHEX | SNV | Missense | Uncertain Significance | <5 | | 34806794 | Exon 20 |
PHEX_0686 | c.2008del | p.Glu670Serfs*17 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 22695891, 34806794 | Exon 20 |
PHEX_0688 | c.2009A>T | p.Glu670Val | PHEX | SNV | Missense | Uncertain Significance | <5 | | 34806794 | Exon 20 |
PHEX_1080 | c.2011_2045del | p.Pro671Alafs*34 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | | 33666701 | Exon 20 |
PHEX_1081 | c.2011C>A | p.Pro671Thr | PHEX | SNV | Missense | Uncertain Significance | <5 | | 34141703 | Exon 20 |
PHEX_0689 | c.2012del | p.Pro671Leufs*16 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities | 34806794 | Exon 20 |
PHEX_0691 | c.2018_2036del | p.Leu673Profs*8 | PHEX | Small deletion | Frameshift | Pathogenic | <5 | Other Musculoskeletal Abnormalities, Lower Limb Deformities | 19219621, 34806794 | Exon 20 |
PHEX_0690 | c.2018T>G | p.Leu673Arg | PHEX | SNV | Missense | Pathogenic | <5 | Lower limb deformities | 29460029, 34806794 | Exon 20 |
PHEX_0692 | c.2021del | p.Pro674Glnfs*13 | |