PHEX

X-Linked Hypophosphatemia

Introduction

The PHEX gene has 22 exons spanning ~220kb and encodes a 749 amino acid protein with homology to M13 zinc metallopeptidases (1). In various in vitro assays, the PHEX protein has been shown to cleave putative target proteins at ASARM peptide motifs, but the physiological protein targets for PHEX cleavage are not known (2, 3).

PHEX is primarily expressed in bone and teeth where it is thought to promote mineralization by indirectly regulating the expression of the phosphate regulating hormone fibroblast growth factor 23 (FGF23) (4). PHEX is also proposed to play a role in bone and tooth mineralization that is independent of FGF23/phosphate regulation, possibly through the bone matrix protein Osteopontin (5).

More than 800 disease-causing variants in the PHEX gene have been identified in XLH patients and are represented in this Locus Specific Database (6). The variants occur across the entire length of the gene and include frameshift, splice site, copy-number, nonsense and missense variants. All of the variants are predicted to lead to a loss of PHEX protein function.

Variant List

To see more information, click on the Variant in the table. Hover on the Variant in the table to see its location on the gene. For more information on table headers, HGVS nomenclature, and ACMG classification please use the following links here.

Gene Structure

Variant ID	Variant	Amino Acid Change	Gene Symbol	Variant Type	Effect Type	Display ACMG Call	Times Observed	Phenotype	PMID	Location

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		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		<5		9768674, 34806794	5' UTR
PHEX_0009	c.-92G>A	p.?	PHEX	SNV	Untranslated region		<5		9768674, 34806794	5' UTR
PHEX_0010	c.-33C>T	p.?	PHEX	SNV	Untranslated region		<5		9768674, 34806794, 19219621	5' UTR
PHEX_0013	c.-29_118+534del	Deletion (Exon 1)	PHEX	Splicing	Deletion		<5		34806794	5' UTR
PHEX_0011	c.-14_8delinsTGGGAGCAGCGTGG	p.?	PHEX	Small insertion	Deletion		<5		22695891, 34806794	Exon 1
PHEX_0016	c.1A>G	p.Met1?	PHEX	SNV	Missense		<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		<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		<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		<5		16636593, 11502829, 34806794	Exon 1
PHEX_0022	c.20_21insAG	p.Ser7Argfs*24	PHEX	Small insertion	Frameshift		<5	Other Musculoskeletal Abnormalities, Lower Limb Deformities	19219621, 34806794	Exon 1
PHEX_0023	c.24C>T	p.Ser8=	PHEX	SNV	Synonymous		<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		5-10	Other Musculoskeletal Abnormalities	30607568, 33639975, 21902834, 34806794	Exon 1
PHEX_0033	c.82G>A	p.Gly28Ser	PHEX	SNV	Missense		<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		<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		<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		<5		16636593, 7550339, 34806794	Intron 1
PHEX_0041	c.119-1G>C	Splice acceptor	PHEX	Splicing	Splice acceptor		<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		<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		<5	Other Musculoskeletal Abnormalities, Lower Limb Deformities	25839938, 19219621, 34806794	Exon 2
PHEX_0049	c.148A>T	p.Lys50*	PHEX	SNV	Nonsense		<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		<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		<5	bowed or bent legs	32329911, 34806794	Exon 2
PHEX_0056	c.176G>C	p.Cys59Ser	PHEX	SNV	Missense		<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		<5		16636593, 34806794	Exons 2-4
PHEX_0059	c.181G>T	p.Glu61*	PHEX	SNV	Nonsense		<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		<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		<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		<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		<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		<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		<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		<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		<5		21050253, 34806794	Exon 3
PHEX_0078	c.212A>T	p.Asn71Ile	PHEX	SNV	Missense		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		<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		<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		<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		<5		25042154, 34806794	Exon 3
PHEX_0095	c.253T>C	p.Cys85Arg	PHEX	SNV	Missense		<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		<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		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		<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		<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		<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		<5		33295632, 34806794	Exon 3
PHEX_0109	c.327del	p.His109Glnfs*7	PHEX	Small deletion	Frameshift		<5		9768674, 16636593, 34806794	Exon 3
PHEX_0079	c.328_330del	p.Asn110del	PHEX	CNV	Deletion		<5		20157195, 18625346, 34806794	Exon 3
PHEX_0111	c.329_330insC	p.Val111Cysfs*2	PHEX	Small insertion	Frameshift		<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		<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		<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		<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		<5		22695891, 34806794	Exons 4-18
PHEX_0822	c.350-?_2070+?del	Deletion (Exon 4-20)	PHEX	CNV	Deletion		<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		<5		30075510, 34806794	Exon 4
PHEX_0130	c.395_398dup	p.Gln133Hisfs*14	PHEX	Small duplication	Frameshift		<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		<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		<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		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		<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		<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		<5		16636593, 26894575, 34806794	Exon 4
PHEX_0141	c.422C>T	p.Ser141Phe	PHEX	SNV	Missense		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		<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		<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		<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		<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		<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		<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		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		<5		22996961, 34806794	Exon 5
PHEX_0166	c.465_466dup	p.Leu156Hisfs*66	PHEX	Small insertion	Frameshift		<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		<5		33639975, 34806794	Exon 5
PHEX_0167	c.479T>G	p.Leu160Arg	PHEX	SNV	Missense		<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		<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		<5		9768674, 34806794	Exon 5
PHEX_0171	c.496C>T	p.Arg166Cys	PHEX	SNV	Missense		<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		<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		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		<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		<5		29460029, 34806794	Exon 5
PHEX_0181	c.547_548del	p.Arg183Lysfs*28	PHEX	Small deletion	Frameshift		<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		<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		<5		29707405, 34806794	Exon 5
PHEX_0183	c.567_576del	p.Thr190Argfs*28	PHEX	Small deletion	Frameshift		<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		<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		<5		16636593, 11004247, 34806794	Exon 5
PHEX_0190	c.610_663+50del	p.?	PHEX	Small deletion	Deletion		<5		16636593, 9199930, 9097956, 34806794	Exon 5, intron 5
PHEX_0830	c.614G>C	p.Arg205Pro	PHEX	SNV	Missense		<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		<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		<5	Other Musculoskeletal Abnormalities, Lower Limb Deformities	19219621, 34806794	Exon 5
PHEX_0194	c.630del	p.Asp211Metfs*10	PHEX	Small deletion	Frameshift		<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		<5		29707405, 34806794	Exon 5
PHEX_0196	c.655_656del	p.Ile219Leufs*18	PHEX	Small deletion	Frameshift		<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		<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		<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		<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		<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		<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		<5		34141703	Exon 6 - 11
PHEX_0834	c.665_674del	p.Leu222Glnfs*7	PHEX	Small deletion	Frameshift		<5		29707405, 34806794	Exon 6
PHEX_0208	c.665T>C	p.Leu222Pro	PHEX	SNV	Missense		<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		<5		21050253, 34806794	Exon 6
PHEX_0211	c.677del	p.Thr226Asnfs*6	PHEX	Small deletion	Frameshift		<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		<5	Short Stature, Other Musculoskeletal Abnormalities	21902834, 34806794	Exon 6
PHEX_0215	c.690C>T	p.Ala230=	PHEX	SNV	Synonymous		<5	Lower Limb Deformities	11502829, 34806794	Exon 6
PHEX_0216	c.710A>G	p.Asp237Gly	PHEX	SNV	Missense		<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		<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		<5		32329911, 34806794	Intron 6
PHEX_0219	c.732+1G>C	p.?	PHEX	Splicing	Splice donor		<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		<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		<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		<5		32329911, 34806794	Exons 7-11
PHEX_0227	c.735T>G	p.Tyr245*	PHEX	SNV	Nonsense		<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		<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		<5		16261449, 34806794	Exon 7
PHEX_0233	c.755T>C	p.Phe252Ser	PHEX	SNV	Missense		<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		<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		<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		<5	Other Musculoskeletal Abnormalities	24926462, 23079138, 21902834, 34806794	Exon 7
PHEX_0242	c.800C>A	p.Ala267Glu	PHEX	SNV	Missense		<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		<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		<5	Skull Deformities, Lower Limb Deformities	29610183, 34806794	Exon 7
PHEX_0248	c.832G>T	p.Glu278*	PHEX	SNV	Nonsense		<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		<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		<5	Other Musculoskeletal Abnormalities, Lower Limb Deformities	9097956, 21050253, 16636593, 19219621, 34806794	Intron 7
PHEX_0842	c.849+3A>G	p.?	PHEX	Splicing	Intronic		<5		33295632, 34806794	Intron 7
PHEX_0255	c.849+6_849+7insT	p.?	PHEX	Small insertion	Intronic		<5	Other Musculoskeletal Abnormalities, Lower Limb Deformities	19219621, 34806794	Intron 7
PHEX_1024	c.849+128G>A	p.?	PHEX	Splicing	Intronic		<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		<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		<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		<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		<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		<5		33295632, 34806794	Exon 8
PHEX_0271	c.904A>G	p.Ile302Val	PHEX	SNV	Missense		<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		<5		30607568, 34806794	Exon 8
PHEX_0273	c.914T>C	p.Leu305Pro	PHEX	SNV	Missense		<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		<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		<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		<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		<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		<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		<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		<5		32329911, 34806794	Exon 9
PHEX_0289	c.950A>T	p.Tyr317Phe	PHEX	SNV	Missense		<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		<5		16636593, 9097956, 34806794	Exon 9
PHEX_0293	c.962ins8	Frameshift	PHEX	Small insertion	Frameshift		<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		<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		<5		32329911, 34806794	Exon 9
PHEX_0303	c.1002_1003insG	p.Pro335Alafs*14	PHEX	Small insertion	Frameshift		<5	Other Musculoskeletal Abnormalities, Lower Limb Deformities	19219621, 34806794	Exon 9
PHEX_0302	c.1005del	p.Ser336Profs*19	PHEX	Small deletion	Frameshift		<5		22577109, 34806794	Exon 9
PHEX_0304	c.1008dup	p.Glu337Argfs*12	PHEX	Small insertion	Missense		<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		<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		<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		<5		22101457, 29460029, 34806794	Exon 9
PHEX_0311	c.1034del	p.Gln345Argfs*10	PHEX	Small deletion	Frameshift		<5		22577109, 34806794	Exon 9
PHEX_0312	c.1036T>G	p.Tyr346Asp	PHEX	SNV	Missense		<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		<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		<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		<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		<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		<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		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		<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		<5	Lower Limb Deformities	19513579, 34806794	Exon 10
PHEX_0332	c.1092C>A	p.Asn364Lys	PHEX	SNV	Missense		<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		<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		<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		<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		<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		<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		<5		21050253, 34806794	Exon 10
PHEX_0353	c.1166del	p.Phe389Serfs*4	PHEX	Small deletion	Frameshift		<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		<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		<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		<5	Other Musculoskeletal Abnormalities, Lower Limb Deformities	19219621, 34806794	Exon 11
PHEX_0367	c.1206del	p.Gln402Hisfs*6	PHEX	Small deletion	Frameshift		<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		<5		26107949, 34806794	Exon 11
PHEX_1132	c.?	p.Cys406Ser	PHEX		Missense		<5		25042154	Exon 11
PHEX_0376	c.1216T>A	p.Cys406Ser	PHEX	SNV	Missense		<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		<5	Lower Limb Deformities	24926462, 23079138, 29505567, 34806794	Exon 11
PHEX_0375	c.1217G>T	p.Cys406Phe	PHEX	SNV	Missense		<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		<5	Other Musculoskeletal Abnormalities, Lower Limb Deformities	19219621, 34806794	Exon 11
PHEX_0381	c.1269del	p.Asp424Metfs*11	PHEX	Small deletion	Frameshift		<5	Other Musculoskeletal Abnormalities	10439971, 16636593, 34806794	Exon 11
PHEX_0382	c.1270_1271del	p.Asp424Cysfs*7	PHEX	Small deletion	Frameshift		<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		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		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		<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		<5		22695891, 34806794	Exon 12
PHEX_0406	c.1319_1321del	p.Glu440del	PHEX	Small deletion	Deletion		<5	Other Musculoskeletal Abnormalities, Lower Limb Deformities	19219621, 34806794	Exon 12
PHEX_0407	c.1324G>T	p.Val442Phe	PHEX	SNV	Missense		<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		<5	dental caries	32329911, 22695891, 34806794	Exon 12
PHEX_0412	c.1332_1333insAAC	p.Trp444_Ala445insAsn	PHEX	Small insertion	Insertion		<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		<5		29707405, 34806794	Exon 12
PHEX_0414	c.1349T>C	p.Leu450Pro	PHEX	SNV	Missense		<5		21050253, 34806794	Exon 12
PHEX_0415	c.1351G>T	p.Glu451*	PHEX	SNV	Nonsense		<5	Other Musculoskeletal Abnormalities	10439971, 23079138, 16636593, 24926462, 34806794	Exon 12
PHEX_0416	c.1357_1360del	p.Glu453Metfs*29	PHEX	Small deletion	Frameshift		<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		<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		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		<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		<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		<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		<5		16636593, 34806794	Exon 13
PHEX_0440	c.1405-?_1645+?del	Deletion (Exons 13-15)	PHEX	CNV	Deletion		<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		<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		<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		<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		<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		<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		<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		5-10		23700148, 29381780, 22573557, 22006791, 28005411, 34806794	Exon 14
PHEX_0461	c.1491_1509del	p.Phe497Leufs*11	PHEX	Small deletion	Frameshift		<5		26377240, 34806794	Exon 14
PHEX_0462	c.1503_1504insGACT	p.Tyr502Aspfs*17	PHEX	Small insertion	Frameshift		<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		<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		<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		<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		<5		32329911, 34806794	Exon 14
PHEX_0473	c.1553del	p.Phe518Serfs*4	PHEX	Small deletion	Frameshift		<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		<5		23079138, 16636593, 24926462, 9199930, 34806794	Exon 14
PHEX_0868	c.1566_1570del	p.Arg522Serfs*58	PHEX	Small deletion	Frameshift		<5		32619592, 34806794	Exon 14
PHEX_0475	c.1572dup	p.Val525Argfs*57	PHEX	Small insertion	Frameshift		<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		<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		<5		21885902, 34806794	Intron 14
PHEX_0478	c.1586+6T>C	p.?	PHEX	Splicing	Intronic		<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		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		<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		<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		<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		<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		<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		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		<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		<5		30682568, 34806794	Intron 15
PHEX_0501	c.1645+5G>A	p.?	PHEX	Splicing	Intronic, Frameshift		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		<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		<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		<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		<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		<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		<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		<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		<5		21902834, 34806794	Exon 16
PHEX_0524	c.1657G>T	p.Gly553*	PHEX	SNV	Nonsense		<5		26377240, 34806794	Exon 16
PHEX_0525	c.1658G>A	p.Gly553Glu	PHEX	SNV	Missense		<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		<5		29460029, 34806794	Exon 16
PHEX_0530	c.1672C>G	p.Pro558Ala	PHEX	SNV	Missense		<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		<5	Other Musculoskeletal Abnormalities, Lower Limb Deformities	19219621, 34806794	Exon 16
PHEX_0534	c.1684G>T	p.Gly562*	PHEX	SNV	Nonsense		<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		5-10	Short Stature, Lower Limb Deformities	31537998, 34806794	Exon 16
PHEX_0522	c.1694del	p.Tyr565Phefs*5	PHEX	Small deletion	Frameshift		<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		<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		<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		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		<5		21050253, 34806794	Exon 17
PHEX_0878	c.1706T>G	p.Leu569Arg	PHEX	SNV	Missense		<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		<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		<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		<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		<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		<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		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		<5		22101457, 29460029, 34806794	Exon 17
PHEX_0574	c.1742A>T	p.Glu581Val	PHEX	SNV	Missense		<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		<5	short stature, gene varum, osteoarthritis	35251124	Exon 17
PHEX_0540	c.1768+?ins		PHEX	Splicing	Unknown		<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		<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		<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		<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		<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		<5	Short Stature, Other Musculoskeletal Abnormalities	24926462, 21902834, 34806794	Intron 17
PHEX_0885	c.1769-10C>T	p.?	PHEX	Splicing	Intronic		<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		<5		32257293, 34806794	Intron 17
PHEX_0591	c.1769-1G>A	p.Gly590Glufs*28	PHEX	Splicing	Splice acceptor, Frameshift		<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		<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		<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		<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		<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		<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		<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		<5		32329911, 34806794	Exon 18
PHEX_0611	c.1825G>T	p.Glu609*	PHEX	SNV	Nonsense		<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		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		<5		22101457, 29460029, 34806794	Exon 18
PHEX_0616	c.1832_1833del	p.Phe611*	PHEX	Small deletion	Nonsense		<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		<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		<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		<5		22101457, 22913777, 24857004, 34806794	Exon 18
PHEX_0629	c.1862A>G	p.Gln621Arg	PHEX	SNV	Missense		<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		<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		<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		<5		21050253, 31102713, 34806794	Intron 18
PHEX_0637	c.1899+2T>A	p.?	PHEX	Splicing	Splice donor		<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		<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		<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		<5	Other Musculoskeletal Abnormalities, Lower Limb Deformities	19219621, 34806794	Exon 19
PHEX_0647	c.1929del	p.Asn643Lysfs*19	PHEX	Small deletion	Frameshift		<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		<5		32133333, 34806794	Exon 19
PHEX_0652	c.1936_1938del	p.Asp646del	PHEX	Small deletion	Deletion		<5	Short Stature, Other Musculoskeletal Abnormalities	24926462, 23079138, 21902834, 34806794	Exon 19
PHEX_0894	c.1936del	p.Asp646Ilefs*16	PHEX	Small deletion	Frameshift		<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		<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		<5	Skull Deformities, Other Musculoskeletal Abnormalities, Lower Limb Deformities	26051471, 34806794	Exon 19
PHEX_0660	c.1946G>A	p.Gly649Asp	PHEX	SNV	Missense		<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		<5	Other Musculoskeletal Abnormalities, Lower Limb Deformities	19219621, 34806794	Exon 19
PHEX_0662	c.1952G>C	p.Arg651Pro	PHEX	SNV	Missense		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		<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		<5		33639975, 34806794	Exon 19
PHEX_0898	c.1962dup	p.Arg655*	PHEX	Small duplication	Nonsense		<5		32329911, 34806794	Exon 19
PHEX_0668	c.1965+1G>A	p.?	PHEX	Splicing	Splice donor		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		<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		<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		<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		<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		<5		29460029, 34806794	Exon 20
PHEX_0901	c.1979_1995dup	p.Gln666Glyfs*2	PHEX	Small duplication	Frameshift		<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		<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		<5		24926462, 23079138, 16636593, 34806794, 10439971	Exon 20
PHEX_0903	c.1986_1989dup	p.Arg664*	PHEX	Small duplication	Nonsense		<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		<5		24926462, 23079138, 15057978, 9199930, 16636593, 34806794	Exon 20
PHEX_0681	c.1993del	p.Arg665Glyfs*22	PHEX	Small deletion	Frameshift		<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		<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		<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		<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	PHEX	Small deletion	Frameshift	Pathogenic	<5		34806794	Exon 20
PHEX_0693	c.2022del	p.Gly675Alafs*12	PHEX	Small deletion	Frameshift	Pathogenic	<5		34806794	Exon 20
PHEX_0694	c.2028_2032dup	p.Phe678Serfs*11	PHEX	Small duplication	Frameshift	Pathogenic	<5	Lower Limb Deformities	34806794	Exon 20
PHEX_0695	c.2030_2031dup	p.Phe678Hisfs*10	PHEX	Small duplication	Frameshift	Pathogenic	<5		20157195, 34806794	Exon 20
PHEX_0696	c.2033dup	p.Thr679Hisfs*38	PHEX	Small insertion	Frameshift		<5		23813354, 22713460, 24857004, 34141703, 34806794	Exon 20
PHEX_1082	c.2039_2042dup	p.Asn681Lysfs*37	PHEX	Small insertion	Frameshift	Pathogenic	<5		34141703	Exon 20
PHEX_0699	c.2040_2041del	p.Asn680Lysfs*36	PHEX	Small deletion	Frameshift		<5	Other Musculoskeletal Abnormalities, Lower Limb Deformities	19219621, 34806794	Exon 20
PHEX_0697	c.2040C>A	p.Asn680Lys	PHEX	SNV	Missense	Uncertain Significance	<5	Gait Abnormalities, Lower Limb Deformities	16636593, 34806794	Exon 20
PHEX_0698	c.2040C>G	p.Asn680Lys	PHEX	SNV	Missense	Uncertain Significance	<5		34806794	Exon 20
PHEX_0701	c.2044C>T	p.Gln682*	PHEX	SNV	Nonsense		<5		15057978, 34806794	Exon 20
PHEX_0906	c.2048T>A	p.Leu683His	PHEX	SNV	Missense		<5		29707405, 34806794	Exon 20
PHEX_0702	c.2048T>C	p.Leu683Pro	PHEX	SNV	Missense		<5	Short Stature, Lower Limb Deformities	24229582, 24857004, 34806794	Exon 20
PHEX_0907	c.2050_2055del	p.Phe684_Phe685del	PHEX	Small deletion	Deletion	Uncertain Significance	<5	Reduced_TmP/GFR_(	34806794	Exon 20
PHEX_0703	c.2051T>G	p.Phe684Cys	PHEX	SNV	Missense		<5		22577109, 34806794	Exon 20
PHEX_0704	c.2053_2055del	p.Phe685del	PHEX	Small deletion	Deletion	Uncertain Significance	<5	Lower limb deformities	34806794	Exon 20
PHEX_1083	c.2054_2057delinsA	p.Phe685*	PHEX	Deletion/Insertion	Nonsense	Pathogenic	<5		34141703	Exon 20
PHEX_0706	c.2057T>A	p.Leu686Gln	PHEX	SNV	Missense		<5		33049132, 34806794	Exon 20
PHEX_0707	c.2057T>C	p.Leu686Pro	PHEX	SNV	Missense	Uncertain Significance	<5	Fractures/Pseudo-Fractures, Lower Limb Deformities	34806794	Exon 20
PHEX_0908	c.2058_2061dup	p.Tyr688Glufs*30	PHEX	Small duplication	Frameshift	Pathogenic	<5		34806794	Exon 20
PHEX_0708	c.2060_2063dup	p.Tyr688*	PHEX	Small insertion	Nonsense	Pathogenic	5-10		19219621, 33666701, 34806794	Exon 20
PHEX_0705	c.2061?ins	Frameshift	PHEX	Small insertion	Frameshift		<5		9768674, 34806794	Exon 20
PHEX_0709	c.2061T>G	p.Ser687Arg	PHEX	SNV	Missense	Likely Pathogenic	<5		34806794	Exon 20
PHEX_0710	c.2063_2070+2del		PHEX	Splicing	Splice donor	Pathogenic	<5		34806794	Exon 20
PHEX_0712	c.2064T>A	p.Tyr688*	PHEX	SNV	Nonsense	Pathogenic	<5	Other Musculoskeletal Abnormalities, Bone and/or joint pain and/or joint stiffness	10439971, 23079138, 16636593, 24926462, 34806794	Exon 20
PHEX_1114	c.2064T>G	p.Tyr688*	PHEX	SNV	Nonsense	Conflict	<5	abnormal bone development, pectus carinatum, bowed or bent leg, short stature	32253725	Exon 20
PHEX_0713	c.2065G>C	p.Ala689Pro	PHEX	SNV	Missense	Uncertain Significance	<5	Gait Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities	34806794	Exon 20
PHEX_0715	c.2066C>A	p.Ala689Asp	PHEX	SNV	Missense		<5		22101457, 29460029, 34806794	Exon 20
PHEX_0714	c.2066C>T	p.Ala689Val	PHEX	SNV	Missense		<5	Other Musculoskeletal Abnormalities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Nervous System	26561226, 34806794	Exon 20
PHEX_0909	c.2067_2068dup	p.His690Leufs*3	PHEX	Small duplication	Frameshift	Pathogenic	<5	Fractures/pseudo-fractures, Reduced Serum Phosphate	34806794	Exon 20
PHEX_0718	c.2070+1G>A	Splice donor	PHEX	Splicing	Splice donor	Pathogenic	5-10		34806794	Intron 20
PHEX_0716	c.2070+1G>T	Splice donor	PHEX	Splicing	Splice donor	Likely Pathogenic	<5		34806794	Intron 20
PHEX_0910	c.2070+2T>G	p.?	PHEX	Splicing	Splice donor		<5		32329911, 34806794	Intron 20
PHEX_0717	c.2070+5G>C	Intronic	PHEX	Splicing	Splice donor	Pathogenic	<5	Gait abnormalities, Lower limb deformities, Short Stature	34806794	Intron 20
PHEX_0912	c.2071-2_2072del		PHEX	Splicing	Splice acceptor	Pathogenic	<5	Gait abnormalities, Lower limb deformities, Tooth abscesses and/or excessive dental caries	34806794	Intron 20
PHEX_0722	c.2071-2A>C	p.?	PHEX	Splicing	Splice acceptor	Pathogenic	<5	abnormal bone development, Other Musculoskeletal Abnormalities, Lower Limb Defor....	10439971, 19219621, 34141703, 34806794	Intron 20
PHEX_0724	c.2071-2A>G	p.?	PHEX	Splicing	Splice acceptor	Pathogenic	5-10	Gait Abnormalities, Lower Limb Deformities	16261449, 12414858, 22695891, 16636593, 22577109, 34806794	Intron 20
PHEX_0723	c.2071-1G>A	p.?	PHEX	Splicing	Splice acceptor	Pathogenic	<5	Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities	12414858, 16636593, 15057978, 34806794	Intron 20
PHEX_1084	c.2071-1G>C	Splice acceptor	PHEX	Splicing	Splice acceptor	Pathogenic	<5			Intron 20
PHEX_0726	c.2071-1G>T	p.?	PHEX	Splicing	Splice acceptor		<5	Lower Limb Deformities	24229582, 22913777, 34806794	Intron 20
PHEX_0721	c.2071A>C		PHEX	Splicing	Unknown		<5		10439971, 34806794	Exon 21
PHEX_1139	c.?	Deletion (Exons 21-22)	PHEX			Pathogenic	<5	Lower limb deformities, Short Stature		Exons 21-22
PHEX_0720	c.2071-?_*3357+?del	Deletion (Exons 21-22)	PHEX	CNV	Deletion	Pathogenic	5-10	Reduced Serum Phosphate, Gait Abnormalities, Gait abnormalities, Tooth Abscesses....	32253725, 34141703, 34806794	Intron 20
PHEX_0911	c.2071-?_*3357+?dup	Gain (Exons 21-22)	PHEX	CNV	Duplication	Uncertain Significance	<5	Gait abnormalities, Lower limb deformities	34806794	Intron 20
PHEX_0725	c.2071-?_2147+?del	Deletion (Exon 21)	PHEX	CNV	Deletion	Pathogenic	<5	Tooth abscesses and/or excessive dental caries, Reduced Serum Phosphate	34806794	Intron 20
PHEX_0728	c.2074_2082del	p.Arg692_Asn694del	PHEX	Small insertion	Unknown		<5		9768674, 34806794	Exon 21
PHEX_0729	c.2077_*4delinsA	p.Trp693delins	PHEX	Small insertion	Deletion/Insertion		<5	Nervous System, Lower Limb Deformities	24836714, 34806794	Exons 21-22
PHEX_0730	c.2077T>A	p.Cys693Ser	PHEX	SNV	Missense	Likely Pathogenic	<5	Tooth Abscesses and/or Excessive Dental Caries	34806794	Exon 21
PHEX_0731	c.2077T>C	p.Cys693Arg	PHEX	SNV	Missense	Likely Pathogenic	<5		34806794	Exon 21
PHEX_0733	c.2078G>A	p.Cys693Tyr	PHEX	SNV	Missense	Pathogenic	<5	Short Stature, Lower Limb Deformities	23079138, 30682568, 16636593, 24229582, 24857004, 34806794	Exon 21
PHEX_1085	c.2078G>C	p.Cys693Ser	PHEX	SNV	Missense	Pathogenic	<5	Gait abnormalities, Fractures/pseudo-fractures, Lower limb deformities, Short Stature		Exon 21
PHEX_0732	c.2078G>T	p.Cys693Phe	PHEX	SNV	Missense		<5	Lower Limb Deformities	24926462, 23079138, 34806794	Exon 21
PHEX_0913	c.2082C>A	p.Cys694*	PHEX	SNV	Nonsense		<5		32329911, 34806794	Exon 21
PHEX_0734	c.2083del	p.Ser695Profs*45	PHEX	Small deletion	Frameshift	Likely Pathogenic	<5		34806794	Exon 21
PHEX_0735	c.2085del	p.Tyr696Thrfs*44	PHEX	Small deletion	Frameshift	Likely Pathogenic	<5		34806794	Exon 21
PHEX_0914	c.2088C>A	p.Tyr696*	PHEX	SNV	Nonsense		<5		32329911, 34806794	Exon 21
PHEX_0738	c.2089_2092dup	p.Pro698Glnfs*20	PHEX	Small insertion	Frameshift		<5	Other Musculoskeletal Abnormalities, Lower Limb Deformities	19219621, 34806794	Exon 21
PHEX_0736	c.2090_2091del	p.Arg697Thrfs*19	PHEX	Small deletion	Frameshift		5-10		16636593, 23813354, 23079138, 24857004, 24926462, 34806794	Exon 21
PHEX_0739	c.2093del	p.Pro698Glnfs*42	PHEX	Small deletion	Frameshift		<5		16636593, 9199930, 32329911, 34806794	Exon 21
PHEX_0740	c.2095G>T	p.Glu699*	PHEX	SNV	Nonsense	Pathogenic	<5		34806794	Exon 21
PHEX_0741	c.2099del	p.Ala700Valfs*40	PHEX	Small deletion	Frameshift		<5		26287655, 16636593, 9768674, 34806794	Exon 21
PHEX_0742	c.2100del	p.Ala701Profs*39	PHEX	Small deletion	Frameshift	Pathogenic	<5	Fractures/Pseudo-Fractures, Lower Limb Deformities	34806794	Exon 21
PHEX_0744	c.2104del	p.Arg702Glufs*38	PHEX	Small deletion	Frameshift		<5	Lower Limb Deformities	16636593, 11502829, 34806794	Exon 21
PHEX_0743	c.2104C>T	p.Arg702*	PHEX	SNV	Nonsense	Pathogenic	30+	abnormal bone development, pectus carinatum, bowed or bent leg, short stature, O....	26377240, 11502829, 21994957, 9768674, 23079138, 15057978, 9097956, 16636593, 24926462, 25894638, 33107440, 19219621, 21902834, 29505567, 10874297, 32253725, 34141703, 34806794	Exon 21
PHEX_0745	c.2110C>T	p.Gln704*	PHEX	SNV	Nonsense		<5		34806794	Exon 21
PHEX_0915	c.2116C>T	p.Gln706*	PHEX	SNV	Nonsense	Pathogenic	<5	Reduced Serum Phosphate	34806794	Exon 21
PHEX_0746	c.2118_2119del	p.Gln706Hisfs*10	PHEX	Small deletion	Frameshift	Pathogenic	<5	Lower limb deformities	34806794	Exon 21
PHEX_0916	c.2125del	p.Ala709Leufs*31	PHEX	Small deletion	Frameshift	Pathogenic	<5	Lower limb deformities	34806794	Exon 21
PHEX_1086	c.2126del	p.Ala709Valfs*31	PHEX	Small deletion	Frameshift	Pathogenic	<5			Exon 21
PHEX_0813	c.2130_2142dup	p.Phe715Glnfs*6	PHEX	Small insertion	Frameshift		<5		30607568, 34806794	Exon 21
PHEX_1140	c.?	p.Ser711Arg	PHEX		Missense	Pathogenic	<5	bowed or bent legs, dental abscesses	11502829	Exon 21
PHEX_0747	c.2133T>A	p.Ser711Arg	PHEX	SNV	Missense		<5		11468271, 16636593, 12727977, 25894638, 18046499, 15470265, 12111239, 34806794	Exon 21
PHEX_0748	c.2137_2143delinsAA	p.Pro713Asnfs*2	PHEX	Small insertion	Frameshift		<5		16636593, 9768674, 34806794	Exon 21
PHEX_0751	c.2138del	p.Pro713Leufs*27	PHEX	Small deletion	Frameshift	Pathogenic	<5		34806794	Exon 21
PHEX_0749	c.2138dup	p.Gln714Serfs*3	PHEX	Small duplication	Frameshift	Pathogenic	<5	bowed or bent legs	32329911, 19219621, 34806794	Exon 21
PHEX_0750	c.2139_2140dup	p.Gln714Leufs*27	PHEX	Small duplication	Frameshift		<5	Short Stature, Other Musculoskeletal Abnormalities	24926462, 23079138, 21902834, 34806794	Exon 21
PHEX_0753	c.2140del	p.Gln714Serfs*26	PHEX	Small deletion	Frameshift	Pathogenic	<5		34806794	Exon 21
PHEX_0754	c.2140C>T	p.Gln714*	PHEX	SNV	Nonsense		<5	bone pain, bowed or bent legs	16261449, 32329911, 34806794	Exon 21
PHEX_1087	c.2142G>C	p.Gln714His	PHEX	SNV	Missense	Uncertain Significance	<5		34141703	Exon 21
PHEX_1088	c.2147_2147+3del	Splice site	PHEX	Small deletion	Splice donor	Pathogenic	<5	Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscess....		Exon 21, Intron 21
PHEX_0758	c.2147G>C	p.Arg716Thr	PHEX	Splicing	Intronic	Uncertain Significance	<5	Lower Limb Deformities	34806794	Exon 21
PHEX_0755	c.2147+1G>A	Splice donor	PHEX	Splicing	Splice donor	Pathogenic	<5	Gait abnormalities, Lower limb deformities	34806794	Intron 21
PHEX_0757	c.2147+2_2147+9del	Splice donor	PHEX	Small deletion	Splice donor	Pathogenic	<5		34141703, 34806794	Intron 21
PHEX_1089	c.2147+1_2147+8del	p.?	PHEX	Small deletion	Splice donor	Pathogenic	<5		21994957	Intron 21
PHEX_0756	c.2147+2T>A	p.?	PHEX	Splicing	Splice donor		<5	Other Musculoskeletal Abnormalities, Lower Limb Deformities	26051471, 34806794	Intron 21
PHEX_1090	c.2147+2T>G	p.?	PHEX	Splicing	Splice donor	Pathogenic	30+		31927522	Intron 21
PHEX_0759	c.2148-10C>A	Intronic	PHEX	Splicing	Intronic	Uncertain Significance	<5	abnormal bone development, pectus carinatum, bowed or bent leg	32253725, 34806794	Intron 21
PHEX_0765	c.2148-3C>G	Intronic	PHEX	Splicing	Intronic	Uncertain Significance	<5		34806794	Intron 21
PHEX_0766	c.2148-2A>G	p.?	PHEX	Splicing	Splice acceptor		<5		22101457, 34806794	Intron 21
PHEX_0917	c.2148-2A>T	p.?	PHEX	Splicing	Splice acceptor		<5		16636593, 34806794	Intron 21
PHEX_0764	c.2148-1G>C	Splice acceptor	PHEX	Splicing	Splice acceptor	Pathogenic	<5		34806794	Intron 21
PHEX_0760	c.2148-1G>T	p.?	PHEX	Splicing	Splice acceptor		<5		22695891, 25031893, 19219621, 34806794	Intron 21
PHEX_0761	c.2149del	p.Val717Serfs*23	PHEX	Small deletion	Frameshift	Pathogenic	<5	Other Musculoskeletal Abnormalities	16636593, 10439971, 34806794	Exon 22
PHEX_0767	c.2149G>T	p.Val717Phe	PHEX	SNV	Missense	Likely Pathogenic	<5		34806794	Exon 22
PHEX_0768	c.2150_2151insTG	p.Asn718Alafs*23	PHEX	Small insertion	Frameshift		<5	Other Musculoskeletal Abnormalities, Lower Limb Deformities	26051471, 34806794	Exon 22
PHEX_0762	c.2148-?_*3357+?del	Deletion (Exon 22)	PHEX	CNV	Deletion	Pathogenic	<5		34806794	Intron 21
PHEX_0769	c.2150T>A	p.Val717Asp	PHEX	SNV	Missense		<5	Other Musculoskeletal Abnormalities, Lower Limb Deformities	19219621, 34806794	Exon 22
PHEX_1091	c.2154_2169delinsA	p.Asn718_Asn723delinsLys	PHEX	Deletion/Insertion	Deletion	Likely Pathogenic	<5		34141703	Exon 22
PHEX_0771	c.2155G>A	p.Gly719Ser	PHEX	SNV	Missense		<5	Short Stature, Lower Limb Deformities	24229582, 24857004, 34806794	Exon 22
PHEX_0770	c.2155G>T	p.Gly719Cys	PHEX	SNV	Missense		<5	Other Musculoskeletal Abnormalities, Lower Limb Deformities, abnormal bone development, bowed or bent leg	19219621, 32253725, 34806794	Exon 22
PHEX_0772	c.2156del	p.Gly719Valfs*21	PHEX	Small deletion	Frameshift		<5		23813354, 34806794	Exon 22
PHEX_1092	c.2157_2160dup	p.Ile721Cysfs*3	PHEX	Small insertion	Frameshift	Pathogenic	<5	Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short Stature		Exon 22
PHEX_0918	c.2158_2165del	p.Ala720*	PHEX	Small deletion	Frameshift	Pathogenic	<5	Gait abnormalities, Lower limb deformities	34806794	Exon 22
PHEX_0774	c.2158G>A	p.Ala720Thr	PHEX	SNV	Missense		11-20		9768674, 16636593, 12727977, 25042154, 23813354, 32511895, 28982589, 18046499, 21604088, 10439971, 34806794	Exon 22
PHEX_0773	c.2158G>T	p.Ala720Ser	PHEX	SNV	Missense		<5	Bone and/or Joint Pain and/or Joint Stiffness, Tooth Abscesses and/or Excessive Dental Caries	28982589, 32511895, 34806794	Exon 22
PHEX_0775	c.2159C>A	p.Ala720Glu	PHEX	SNV	Missense	Pathogenic	5-10		34806794	Exon 22
PHEX_0776	c.2160_2175del	p.Ile721Asnfs*14	PHEX	Small deletion	Frameshift		<5	Other Musculoskeletal Abnormalities, Lower Limb Deformities	19219621, 34806794	Exon 22
PHEX_0777	c.2162_2163insCCCT	p.Ser722Profs*2	PHEX	Small insertion	Frameshift		<5	Other Musculoskeletal Abnormalities	10439971, 23079138, 24926462, 34806794	Exon 22
PHEX_0778	c.2164del	p.Ser722Valfs*18	PHEX	Small deletion	Frameshift	Pathogenic	<5	Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities	34806794	Exon 22
PHEX_0780	c.2165_2184dup	p.Lys729Valfs*18	PHEX	Small duplication	Frameshift	Pathogenic	<5	Gait Abnormalities, Lower Limb Deformities	34806794	Exon 22
PHEX_0981		p.Ser722fs	PHEX	Small insertion	Frameshift		<5		16636593, 34806794	Exon 22
PHEX_0779	c.2166_2199delins	Frameshift	PHEX	Small insertion	Frameshift		<5		9768674, 34806794	Exon 22
PHEX_0781	c.2166delinsGG	p.Ser722Argfs*4	PHEX	Small insertion	Frameshift		<5	Gait Abnormalities, Skull Deformities, Thyroid	30238432, 24594262, 34806794	Exon 22
PHEX_0782	c.2168dup	p.Asn723Lysfs*3	PHEX	Small duplication	Frameshift		<5	Short Stature, Other Musculoskeletal Abnormalities	24926462, 23079138, 21902834, 34806794	Exon 22
PHEX_0783	c.2171_2172del	p.Phe724*	PHEX	Small deletion	Nonsense		<5	abnormal bone development, pectus carinatum, bowed or bent leg, short stature	23079138, 16055933, 16636593, 24926462, 18162710, 30599486, 32253725, 34806794	Exon 22
PHEX_0784	c.2171_2172insAACT	p.Phe724Leufs*3	PHEX	Small insertion	Frameshift		<5	Other Musculoskeletal Abnormalities, Lower Limb Deformities	19219621, 34806794	Exon 22
PHEX_0785	c.2172_*236del	Partial Deletion (Exon 22)	PHEX	CNV	Untranslated region	Pathogenic	<5	Gait Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities	34806794	Exon 22
PHEX_0919	c.2179T>C	p.Phe727Leu	PHEX	SNV	Missense		<5		32329911, 16636593, 32511895, 34806794	Exon 22
PHEX_0786	c.2182C>T	p.Gln728*	PHEX	SNV	Nonsense	Pathogenic	<5	bowed or bent legs, Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities	31474501, 15057978, 34806794	Exon 22
PHEX_0920	c.2188G>T	p.Ala730Ser	PHEX	SNV	Missense		<5		29707405, 34806794	Exon 22
PHEX_0787	c.2189del	p.Ala730Valfs*10	PHEX	Small deletion	Frameshift	Pathogenic	<5		34806794	Exon 22
PHEX_0789	c.2192T>A	p.Phe731Tyr	PHEX	SNV	Missense		<5		9768674, 16636593, 12727977, 23813354, 32511895, 21604088, 22713460, 34806794	Exon 22
PHEX_0788	c.2192T>C	p.Phe731Ser	PHEX	SNV	Missense		5-10	Tooth Abscesses and/or Excessive Dental Caries, Short Stature, Lower Limb Deformities, genu varum	23813354, 22713460, 29901142, 24857004, 27840894, 34141703, 34806794	Exon 22
PHEX_0790	c.2193del	p.Phe731Leufs*9	PHEX	Small deletion	Frameshift	Pathogenic	<5		34806794	Exon 22
PHEX_1093	c.2194_2197dup	p.Cys733*	PHEX	Small insertion	Nonsense	Pathogenic	<5		24857004	Exon 22
PHEX_0791	c.2193_2194insAlu	p.Phe731fs	PHEX	Alu insertion	Frameshift	Pathogenic	<5		34806794	Exon 22
PHEX_0792	c.2197T>C	p.Cys733Arg	PHEX	SNV	Missense	Pathogenic	<5	Other Musculoskeletal Abnormalities, Bone and/or Joint Pain and/or Joint Stiffne....	25839938, 22527485, 34806794, 16636593	Exon 22
PHEX_0921	c.?	p.Cys733Arg	PHEX	SNV	Missense		<5		29933856, 29735309, 34806794	Exon 22
PHEX_0794	c.2198G>A	p.Cys733Tyr	PHEX	SNV	Missense	Likely Pathogenic	5-10	Other Musculoskeletal Abnormalities, Bone and/or Joint Pain and/or Joint Stiffne....	25839938, 21293852, 16636593, 30607568, 23813354, 24857004, 34806794	Exon 22
PHEX_0793	c.2198G>C	p.Cys733Ser	PHEX	SNV	Missense	Uncertain Significance	<5	Other Musculoskeletal Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities, Gait Abnormalities, Skull Deformities	10439971, 23079138, 16636593, 24926462, 29610183, 34806794	Exon 22
PHEX_0795	c.2198G>T	p.Cys733Phe	PHEX	SNV	Missense	Uncertain Significance	<5	radiological signs of rickets, abnormal bone development	33639975, 30607568, 34806794	Exon 22
PHEX_1094	c.2199T>A	p.Cys733*	PHEX	SNV	Nonsense	Pathogenic	<5			Exon 22
PHEX_0797	c.2202del	p.Asn736Ilefs*4	PHEX	Small deletion	Frameshift		<5	Gait Abnormalities, Lower Limb Deformities	30792871, 34806794	Exon 22
PHEX_1095	c.2214_2234del	p.Met739_Ser745del	PHEX	Small deletion	Deletion	Uncertain Significance	<5	Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscess....		Exon 22
PHEX_1096	c.2216_2225del	p.Met739Thrfs*29	PHEX	Small deletion	Frameshift	Pathogenic	<5			Exon 22
PHEX_0922	c.2221A>T	p.Arg741*	PHEX	SNV	Nonsense	Pathogenic	<5	Gait abnormalities, Lower limb deformities	34806794	Exon 22
PHEX_1097	c.2227dup	p.Met743Asnfs*51	PHEX	Small insertion	Frameshift	Pathogenic	<5	difficulty walking, genu varum, lower limb weakness, myelopathy, pain, bowed or....	32698954	Exon 22
PHEX_1098	c.2230_2231insC	p.Asp744Alafs*50	PHEX	Small insertion	Frameshift	Pathogenic	<5	abnormal bone development, pectus carinatum, bowed or bent leg	32253725	Exon 22
PHEX_0923	c.2236dup	p.Cys746Leufs*48	PHEX	Small duplication	Frameshift		<5		32329911, 34806794	Exon 22
PHEX_0798	c.2237G>A	p.Cys746Tyr	PHEX	SNV	Missense	Pathogenic	11-20	Short Stature, Fractures/Pseudo-Fractures, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries	23813354, 24857004, 34806794	Exon 22
PHEX_1099	c.2237G>T	p.Cys746Phe	PHEX	SNV	Missense	Likely Pathogenic	<5	Gait abnormalities, Lower limb deformities		Exon 22
PHEX_0799	c.2238C>A	p.Cys746*	PHEX	SNV	Nonsense		<5	Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities	16636593, 11502829, 34806794	Exon 22
PHEX_0800	c.2238C>G	p.Cys746Trp	PHEX	SNV	Missense		<5	Other Musculoskeletal Abnormalities	10439971, 16636593, 24926462, 23079138, 30792871, 12001226, 34806794	Exon 22
PHEX_0801	c.2239del	p.Arg747Aspfs*24	PHEX	Small deletion	Frameshift	Pathogenic	<5		34806794	Exon 22
PHEX_0802	c.2239C>T	p.Arg747*	PHEX	SNV	Nonsense	Pathogenic	30+	Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait Abnormalities,....	10439971, 25839938, 9199930, 23079138, 30607568, 21902834, 26051471, 9768674, 31903094, 15057978, 16055933, 10894185, 25894638, 33639975, 32329911, 11502829, 30682568, 22695891, 24926462, 19219621, 29505567, 21050253, 16636593, 9593714, 12001226, 10874297, 30792871, 30599486, 18162710, 34141703, 33666701, 32253725, 34806794	Exon 22
PHEX_1100	c.2240G>C	p.Arg747Pro	PHEX	SNV	Missense	Likely Pathogenic	<5	Lower limb deformities		Exon 22
PHEX_0805	c.2243T>G	p.Leu748Arg	PHEX	SNV	Missense		<5		34806794	Exon 22
PHEX_1141	c.?	p.Trp749Arg	PHEX		Missense	Likely Pathogenic	<5	abnormal bone development	10439971, 21604088, 12001226	Exon 22
PHEX_0804	c.2244_2245del	p.Trp749Valfs*44	PHEX	Small deletion	Frameshift		<5	Lower Limb Deformities	28383812, 34806794	Exon 22
PHEX_0807	c.2245_2246insACTC	p.Trp749Tyrfs*46	PHEX	Small insertion	Frameshift		<5		15057978, 34806794	Exon 22
PHEX_1101	c.2245T>A	p.Trp749Arg	PHEX	SNV	Missense	Likely Pathogenic	<5	Reduced Serum Phosphate		Exon 22
PHEX_0806	c.2245T>C	p.Trp749Arg	PHEX	SNV	Missense	Pathogenic	<5	Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities, abnormal bone development, pectus carinatum, bowed or bent leg, short stature	9768674, 16636593, 32253725, 34806794	Exon 22
PHEX_0808	c.2246G>C	p.Trp749Ser	PHEX	SNV	Missense	Uncertain Significance	<5		16636593, 34806794	Exon 22
PHEX_0924	c.2248T>C	p.750Glnext9	PHEX	SNV		Likely Pathogenic	<5	Reduced_TmP/GFR_(	34806794	Exon 22
PHEX_0809	c.2249A>T	p.750Leuext9	PHEX	SNV	Extension	Likely Pathogenic	<5		21050253, 28383812, 34806794	Exon 22
PHEX_0810	c.2250G>C	p.750Tyrext9	PHEX	SNV	Extension	Likely Pathogenic	<5	Other Musculoskeletal Abnormalities, Lower Limb Deformities	26051471, 34806794	Exon 22
PHEX_0811	c.*58C>T	p.?	PHEX	SNV	Untranslated region		<5		18625346, 34806794	3' UTR
PHEX_0812	c.*231A>G	p.?	PHEX	SNV	Untranslated region	Likely Pathogenic	30+	Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities	31242375, 31910300, 29417983, 31242373, 28982589, 25042154, 31242372, 18625346, 31242376, 31242374, 34806794	3' UTR
PHEX_0925	c.?-2664_2949-?dup		PHEX	CNV	Duplication		5-10		33639975, 34806794	3' UTR

Notes:

* Click the PMID number to go to the corresponding publication.
* All variants are referencing NM_000444.5 or NM_000444.6 and there is no change between these versions with respect to the coding sequence.
* Genomic coordinates are calculated based on variant data provided: in some cases coordinates are estimated in order to allow users to sort the variants linearly, by approximation.

Definition of acronyms:

"*": Referenced a stop codon insertion when listed under amino acid change.
ACMG: American College of Medical Genetics and Genomics
CNV: Copy number variant which here describes a change 100 DNA nucleotides or larger.
SNV: Single DNA nucleotide variant
del: Deletion
dup: Duplication
fs: Frameshift
ins: Insertion

References:

The HYP Consortium, A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets. Nat Genet 11, 130–136 (1995).
Rowe, P. S. N. et al., The wrickkened-pathways of FGF23, MEPE and PHEX. Crit Rev Oral Biol Med 15:264 –281 4 (2004).
Rowe, P. S. N. et al., Regulation of bone-renal mineral and energy metabolism: the PHEX, FGF23, DMP1, MEPE ASARM pathway Crit Rev Eukaryot Gene Expr. 22(1):61-86 (2012).
Beck-Nielsen, S. S. et al., FGF23 and its role in X-linked hypophosphatemia-related morbidity. Orphanet J Rare Dis 14, 58 (2019).
Barros, N. M. et al., Proteolytic processing of osteopontin by PHEX and accumulation of osteopontin fragments in Hyp mouse bone, the murine model of X‐linked hypophosphatemia. J Bone Miner Res 28, 688–699 (2013).
Sarafrazi, S. et al., Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH). Hum Mutat. 43(2):143-157 (2022).

X-Linked Hypophosphatemia

Introduction

Variant List

Gene Structure

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