X-Linked Hypophosphatemia

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PHEX

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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_IDVariantAmino_Acid_ChangeDisplay ACMG CallACMG_Call_Last_Revised_DateVariant_TypeEffect_Typegene_symbolTimes_Observed_RangePMIDArticle_CountPhenotypeVariant_StartLocation
PHEX_0001c.-562-?_118+?delDeletion (Exon 1)Pathogenic4/28/2021CNVDeletionPHEX6-1021994957, 32253725, 348067943Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities, abnormal bone development, bowed or bent legs, short stature-562Exon 1
PHEX_0006c.-562-?_187+?delDeletion (Exons 1-2)Pathogenic4/28/2021CNVDeletionPHEX6-1034141703, 348067942Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries-5625' UTR
PHEX_0004c.-562-?_349+?delDeletion (Exons 1-3)Pathogenic4/28/2021CNVDeletionPHEX3-516636593, 11502829, 19581284, 22577109, 33666701, 34141703, 348067947--562Exon 1 - 3
PHEX_0007c.-562-?_663+?delDeletion (Exons 1-5)Pathogenic4/28/2021CNVDeletionPHEX3-5348067941--5625' UTR
PHEX_0014c.-562-?_1173+?delDeletion (Exons 1-10)Pathogenic4/28/2021CNVDeletionPHEX< 3348067941--5625' UTR
PHEX_0814c.-562-?_1586+?delDeletion (Exons 1-14)Pathogenic4/28/2021CNVDeletionPHEX< 3348067941Gait abnormalities, Tooth abscesses and/or excessive dental caries, Reduced Serum Phosphate-5625' UTR
PHEX_0003c.-562-?_1645+?delDeletion (Exons 1-15)Pathogenic4/28/2021CNVDeletionPHEX< 3348067941--5625' UTR
PHEX_1115c.-562-?_1404+?delDeletion (Exons 1-12)Pathogenic2022-02-02 00:00:00CNVDeletionPHEX<3-0Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Fractures/pseudo-fractures, Lower limb deformities, Short Stature-5625' UTR
PHEX_0015c.-562-?_*3357+?delDeletion (Exons 1-22)Pathogenic4/28/2021CNVDeletionPHEX< 3348067941Bone and/or joint pain and/or joint stiffness, Lower limb deformities-5625' UTR
PHEX_0008c.-430A>Gp.?-4/28/2021SNVUntranslated regionPHEX< 39768674, 348067942--4305' UTR
PHEX_0009c.-92G>Ap.?-4/28/2021SNVUntranslated regionPHEX< 39768674, 348067942--925' UTR
PHEX_0010c.-33C>Tp.?-4/28/2021SNVUntranslated regionPHEX< 39768674, 34806794, 192196213--335' UTR
PHEX_0013c.-29_118+534delDeletion (Exon 1)-4/28/2021SplicingDeletionPHEX< 3348067941--295' UTR
PHEX_0011c.-14_8delinsTGGGAGCAGCGTGGp.?-4/28/2021Small insertionDeletionPHEX< 322695891, 348067942--14Exon 1
PHEX_0016c.1A>Gp.Met1?-4/28/2021SNVMissensePHEX< 321994957, 30682568, 348067943-1Exon 1
PHEX_0017c.2T>Cp.Met1?Pathogenic4/28/2021SNVUnknownPHEX< 3348067941-2Exon 1
PHEX_0018c.4G>Tp.Glu2*-4/28/2021SNVNonsensePHEX3-526051471, 348067942Other Musculoskeletal Abnormalities, Short Stature, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries4Exon 1
PHEX_0019c.10G>Cp.Glu4Gln-4/28/2021SNVMissensePHEX< 316636593, 31180159, 34141703, 348067944-10Exon 1
PHEX_0020c.15_16delp.Gly6Glufs*44Pathogenic4/28/2021Small deletionFrameshiftPHEX3-522577109, 348067942Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate15Exon 1
PHEX_0021c.17_18delp.Gly6Glufs*44-4/28/2021Small deletionFrameshiftPHEX< 316636593, 11502829, 348067943-17Exon 1
PHEX_0022c.20_21insAGp.Ser7Argfs*24-4/28/2021Small insertionFrameshiftPHEX< 319219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities20Exon 1
PHEX_0023c.24C>Tp.Ser8=-4/28/2021SNVSynonymousPHEX< 311502829, 348067942-24Exon 1
PHEX_0024c.27_28insAp.Glu10Argfs*41Pathogenic4/28/2021Small insertionFrameshiftPHEX< 3348067941Lower Limb Deformities27Exon 1
PHEX_0025c.30_36delp.Thr11Argfs*19Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-30Exon 1
PHEX_0026c.49A>Tp.Arg17*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941Gait Abnormalities49Exon 1
PHEX_0982c.51_52dupp.Gly18Glufs*15Pathogenic2022-02-02 00:00:00Small insertionFrameshiftPHEX<3322537251abnormal bone development, pectus carinatum, bowed or bent leg52Exon 1
PHEX_0027c.58C>Tp.Arg20*Pathogenic4/28/2021SNVNonsensePHEX11-2010439971, 9199930, 11502829, 23079138, 20157195, 16055933, 21050253, 15057978, 24857004, 9097956, 16636593, 24926462, 25894638, 18162710, 30599486,10874297, 34141703, 3480679418Other Musculoskeletal Abnormalities, Short Stature, Lower limb deformities, Lower Limb Deformities, Gait Abnormalities, Gait abnormalities, Skull Deformities58Exon 1
PHEX_0028c.64G>Tp.Ala22SerUncertain Significance4/28/2021SNVMissensePHEX< 323079138, 24926462, 18162710, 30599486, 348067945Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities64Exon 1
PHEX_0029c.67_74delp.Leu23Valfs*25Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-67Exon 1
PHEX_0030c.68delp.Leu23Argfs*9Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-68Exon 1
PHEX_0032c.77_78delp.Phe26Cysfs*24-4/28/2021Small deletionFrameshiftPHEX6-1030607568, 33639975, 21902834, 348067944Other Musculoskeletal Abnormalities77Exon 1
PHEX_0033c.82G>Ap.Gly28Ser-4/28/2021SNVMissensePHEX3-519513579, 348067942-82Exon 1
PHEX_0034c.83delp.Gly28Valfs*4Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941Gait Abnormalities83Exon 1
PHEX_0035c.117delp.Val40*-4/28/2021Small deletionNonsensePHEX< 319219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities117Exon 1 - 2
PHEX_0037c.118+1G>Ap.?Pathogenic4/28/2021SplicingSplice donorPHEX3-516636593, 25031893, 15057978, 34141703, 348067945Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries118Intron 1
PHEX_0038c.118+1G>TSplice donorPathogenic4/28/2021SplicingSplice donorPHEX< 3348067941-118Intron 1
PHEX_0036c.118+2delSplice donorLikely Pathogenic4/28/2021SplicingSplice donorPHEX< 3348067941-118Intron 1
PHEX_0816c.118+2T>Gp.?-4/28/2021SplicingSplice donorPHEX< 333639975, 348067942-118Intron 1
PHEX_0983c.118+951C>Tp.?Benign2022-02-02 00:00:00SplicingIntronicPHEX<3195812841-118Intron 1
PHEX_0984c.118+2130T>Ap.?Uncertain Significance2022-02-02 00:00:00SplicingIntronicPHEX<3195812841-118Intron 1
PHEX_0985c.119-455C>Tp.?Benign2022-02-02 00:00:00SplicingIntronicPHEX<3226664111-119Intron 1
PHEX_0043c.119-1G>ASplice acceptor-4/28/2021SplicingSplice acceptorPHEX< 316636593, 7550339, 348067943-119Intron 1
PHEX_0041c.119-1G>CSplice acceptor-4/28/2021SplicingSplice acceptorPHEX< 316636593, 7550339, 348067943-119Intron 1
PHEX_0039c.119-?_187+?delDeletion (Exon 2)Likely Pathogenic4/28/2021CNVDeletionPHEX< 332329911, 348067942-119Exon 2
PHEX_0042c.119-?_*3357+?dupGain (Exons 2-22)Uncertain Significance4/28/2021CNVDuplicationPHEX< 3348067941-119Intron 1
PHEX_0044c.124delp.Gln42Lysfs*4Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941Gait Abnormalities, Lower Limb Deformities124Exon 2
PHEX_0045c.133_134delp.Leu45Lysfs*5-4/28/2021Small deletionFrameshiftPHEX< 323813354, 348067942-133Exon 2
PHEX_1116c.134_135ins?p.Leu45fsPathogenic2022-02-02 00:00:00Small insertionPHEX<3-0-134Exon 2
PHEX_0047c.134T>Ap.Leu45*Pathogenic4/28/2021SNVNonsensePHEX3-5348067941Lower Limb Deformities134Exon 2
PHEX_0046c.134T>Gp.Leu45*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941Gait Abnormalities, Lower Limb Deformities134Exon 2
PHEX_0048c.142C>Tp.Gln48*-4/28/2021SNVNonsensePHEX< 325839938, 19219621, 348067943Other Musculoskeletal Abnormalities, Lower Limb Deformities142Exon 2
PHEX_0049c.148A>Tp.Lys50*-4/28/2021SNVNonsensePHEX< 325839938, 22527485, 348067943Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries148Exon 2
PHEX_0050c.151C>Tp.Gln51*Pathogenic4/28/2021SNVNonsensePHEX6-1025839938, 11502829, 31485552, 9097956, 16636593, 348067946Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities151Exon 2
PHEX_0051c.154G>Tp.Glu52*Pathogenic4/28/2021SNVNonsensePHEX3-528383812, 348067942Lower Limb Deformities154Exon 2
PHEX_0052c.159C>Ap.Tyr53*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941-159Exon 2
PHEX_0986c.160delp.Cys54Alafs*2Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3322537251-160Exon 2
PHEX_0987c.161dupp.Cys54Trpfs*16Pathogenic2022-02-02 00:00:00Small insertionFrameshiftPHEX<3-0Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Fractures/pseudo-fractures, Lower limb deformities, Short Stature161Exon 2
PHEX_0053c.162C>Ap.Cys54*-4/28/2021SNVNonsensePHEX< 330682568, 348067942-162Exon 2
PHEX_0054c.166A>Tp.Lys56*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941-166Exon 2
PHEX_0055c.174delp.Glu58Aspfs*10-4/28/2021Small deletionFrameshiftPHEX< 332329911, 348067942bowed or bent legs174Exon 2
PHEX_0056c.176G>Cp.Cys59Ser-4/28/2021SNVMissensePHEX3-519513579, 348067942Lower Limb Deformities176Exon 2
PHEX_0057c.177C>Ap.Cys59*Pathogenic4/28/2021SNVNonsensePHEX3-5348067941Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries177Exon 2
PHEX_0058c.179_436delp.Ile60_Glu145del-4/28/2021CNVDeletionPHEX< 316636593, 348067942-179Exons 2-4
PHEX_0059c.181G>Tp.Glu61*-4/28/2021SNVNonsensePHEX< 321994957, 348067942-181Exon 2
PHEX_0060c.185C>Tp.Ala62ValUncertain Significance4/28/2021SplicingIntronicPHEX< 3348067941Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate185Exon 2
PHEX_0061c.187delp.Ala63Leufs*5-4/28/2021Small deletionFrameshiftPHEX< 322577109, 348067942-187Exons 2-3
PHEX_0988c.187+1G>Cp.?Pathogenic2022-02-02 00:00:00SplicingSplice donorPHEX<3341417031-187Intron 2
PHEX_0063c.187+1G>Tp.?-4/28/2021SplicingSplice donorPHEX< 316636593, 29505567, 10439971, 348067944Lower Limb Deformities187Intron 2
PHEX_0062c.187+2T>ASplice donorLikely Pathogenic4/28/2021SplicingSplice donorPHEX< 3348067941Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities187Intron 2
PHEX_0989c.187+3_187+6delIntronicUncertain Significance2022-02-02 00:00:00Small deletionSplice donorPHEX<3-0Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature187Intron 2
PHEX_0990c.187+354C>Tp.?Benign2022-02-02 00:00:00SplicingIntronicPHEX<3195812841-187Intron 2
PHEX_0991c.187+416G>Ap.?Benign2022-02-02 00:00:00SplicingIntronicPHEX<3195812841-187Intron 2
PHEX_0992c.187+491G>Ap.?Uncertain Significance2022-02-02 00:00:00SplicingIntronicPHEX<3195812841-187Intron 2
PHEX_0993c.188-3779C>Gp.?Uncertain Significance2022-02-02 00:00:00SplicingIntronicPHEX<3195812841-188Intron 2
PHEX_0994c.188-3425G>Ap.?Benign2022-02-02 00:00:00SplicingIntronicPHEX<3195812841-188Intron 2
PHEX_0995c.188-3319T>Cp.?Benign2022-02-02 00:00:00SplicingIntronicPHEX<3195812841-188Intron 2
PHEX_0069c.188-47C>Tp.?-4/28/2021SplicingIntronicPHEX< 319219621, 348067942-188Intron 2
PHEX_0067c.188-1G>ASplice acceptorPathogenic4/28/2021SplicingSplice acceptorPHEX3-5348067941Lower limb deformities, Reduced Serum Phosphate188Intron 2
PHEX_0066c.188-1G>Cp.?-4/28/2021SplicingSplice acceptorPHEX3-511502829, 348067942Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities188Intron 2
PHEX_0064c.188-?_349+?delDeletion (Exon 3)Pathogenic4/28/2021CNVDeletionPHEX3-523079138, 24926462, 21902834, 348067944Fractures/Pseudo-Fractures, Lower Limb Deformities, Gait abnormalities, Lower limb deformities, abnormal bone development, short stature188Exon 3
PHEX_0065c.188-?_349+?dupGain (Exon 3)-4/28/2021CNVDuplicationPHEX< 321902834, 348067942-188Exon 3
PHEX_0817c.188-?_1302+?dupGain (Exons 3-11)Pathogenic4/28/2021CNVDuplicationPHEX< 3348067941-188Intron 2
PHEX_0070c.188-?_1404+?dupGain (Exons 3-12)Likely Pathogenic4/28/2021CNVDuplicationPHEX< 3348067941-188Intron 2
PHEX_0071c.200T>Gp.Leu67*-4/28/2021SNVNonsensePHEX< 316636593, 348067942-200Exon 3
PHEX_0073c.201_202dupp.Ser68Lysfs*4Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941-201Exon 3
PHEX_0996c.202dupp.Ser68Lysfs*2Pathogenic2022-02-02 00:00:00Small insertionFrameshiftPHEX<3-0Fractures/pseudo-fractures, Short Stature202Exon 3
PHEX_0074c.204delp.Ser68Argfs*3Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-204Exon 3
PHEX_0075c.204dupp.Lys69*-4/28/2021Small insertionNonsensePHEX< 330607568, 33639975, 348067943-204Exon 3
PHEX_0076c.208_212delp.Val70Serfs*7Pathogenic4/28/2021Small deletionFrameshiftPHEX6-1026377240, 16636593, 33639975, 15057978, 9097956, 30607568, 32253725, 348067948Gait Abnormalities, Lower Limb Deformities, abnormal bone development, bowed or bent leg, short stature208Exon 3
PHEX_0077c.212A>Cp.Asn71Thr-4/28/2021SNVMissensePHEX< 321050253, 348067942-212Exon 3
PHEX_0078c.212A>Tp.Asn71Ile-4/28/2021SNVMissensePHEX6-1030607568, 33639975, 21902834, 348067944Short Stature, Other Musculoskeletal Abnormalities212Exon 3
PHEX_0080c.218_221delp.Ser73Trpfs*16Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-218Exon 3
PHEX_0082c.221_222delp.Val74Glyfs*4Pathogenic4/28/2021Small deletionFrameshiftPHEX< 322577109, 348067942-221Exon 3
PHEX_1102c.221delp.Val74Glyfs*16Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3341417031-221Exon 3
PHEX_0083c.227_238dupp.Asn79_Phe80insSerCysAspAsnPathogenic4/28/2021Small duplicationInsertionPHEX< 3348067941-227Exon 3
PHEX_0997c.227_240delp.Pro76Leufs*6Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3-0227Exon 3
PHEX_0084c.229T>Ap.Cys77Ser-4/28/2021SNVMissensePHEX< 326051471, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities229Exon 3
PHEX_0998c.229T>Cp.Cys77ArgLikely Pathogenic2022-02-02 00:00:00SNVMissensePHEX3-534141703, 278408942short stature, genu varum, teeth falling out229Exon 3
PHEX_0086c.230G>Ap.Cys77TyrLikely Pathogenic4/28/2021SNVMissensePHEX3-532329911, 348067942bowed or bent legs230Exon 3
PHEX_0085c.230G>Cp.Cys77SerPathogenic4/28/2021SNVMissensePHEX3-516636593, 19219621, 9097956, 10874297, 12001226, 32253725, 348067947Hearing Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, abnormal bone development, pectus carinatum, bowed or bent leg, short stature230Exon 3
PHEX_0087c.230G>Tp.Cys77PhePathogenic4/28/2021SNVMissensePHEX3-5348067941Lower Limb Deformities, Gait abnormalities, Fractures/Pseudo-Fractures230Exon 3
PHEX_0088c.231T>Gp.Cys77Trp-4/28/2021SNVMissensePHEX< 330682568, 348067942-231Exon 3
PHEX_0089c.239T>Cp.Phe80SerPathogenic4/28/2021SNVMissensePHEX< 317710565, 12001226, 348067943-239Exon 3
PHEX_0091c.241T>Cp.Phe81LeuUncertain Significance4/28/2021SNVMissensePHEX< 3348067941-241Exon 3
PHEX_0092c.242T>Cp.Phe81Ser-4/28/2021SNVMissensePHEX< 310439971, 23079138, 16636593, 24926462, 17710565, 348067946Other Musculoskeletal Abnormalities242Exon 3
PHEX_0093c.250G>Cp.Ala84ProUncertain Significance4/28/2021SNVMissensePHEX< 3348067941-250Exon 3
PHEX_0094c.251C>Ap.Ala84Asp-4/28/2021SNVMissensePHEX< 325042154, 348067942-251Exon 3
PHEX_0095c.253T>Cp.Cys85Arg-4/28/2021SNVMissensePHEX< 39199930, 11468271, 16636593, 12727977, 14992683, 15470265, 12001226, 19513579, 17710565, 10874297, 25894638, 18046499, 12111239, 3480679414-253Exon 3
PHEX_0096c.254G>Ap.Cys85TyrPathogenic4/28/2021SNVMissensePHEX6-1011502829, 30682568, 9106524, 16636593, 10874297, 12001226, 348067947Lower Limb Deformities254Exon 3
PHEX_0098c.254G>Cp.Cys85SerPathogenic4/28/2021SNVMissensePHEX3-530682568, 32329911, 348067943bowed or bent legs, Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature254Exon 3
PHEX_0097c.254G>Tp.Cys85Phe-4/28/2021SNVMissensePHEX< 316636593, 19219621, 10874297, 12001226, 348067945Other Musculoskeletal Abnormalities, Lower Limb Deformities254Exon 3
PHEX_0999c.255T>Ap.Cys85*Pathogenic2022-02-02 00:00:00SNVNonsensePHEX<3-0Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature255Exon 3
PHEX_0099c.263G>Ap.Trp88*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941-263Exon 3
PHEX_0100c.264delp.Trp88*-4/28/2021Small deletionNonsensePHEX3-523813354, 21293852, 18046499, 24857004, 348067945-264Exon 3
PHEX_0101c.275_280delinsTp.Asn92Ilefs*17Pathogenic4/28/2021Small insertionFrameshiftPHEX< 3348067941-275Exon 3
PHEX_0102c.288A>Gp.Glu96=-4/28/2021SNVSynonymousPHEX< 318625346, 348067942-288Exon 3
PHEX_0103c.288delp.Asp97Ilefs*11Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-288Exon 3
PHEX_0104c.289_349+836delinsAAGATATGCCTSplice DonorLikely Pathogenic4/28/2021SplicingSplice donorPHEX< 3348067941Gait Abnormalities, Lower Limb Deformities289Exon 3
PHEX_0105c.294_295insAAGAGp.Pro99Lysfs*11-4/28/2021Small insertionFrameshiftPHEX< 319219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities294Exon 3
PHEX_0106c.304G>Ap.Gly102ArgPathogenic4/28/2021SNVMissensePHEX11-2029901142, 34141703, 27840894, 348067944bowed or bent legs, short stature, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, pectus carinatum, abnormal bone development, dental abnormalities304Exon 3
PHEX_1000c.304G>Tp.Gly102TrpLikely Pathogenic2022-02-02 00:00:00SNVMissensePHEX<3-1Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Lower limb deformities, Short Stature, 304Exon 3
PHEX_0107c.307delp.Val103Phefs*5Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941Fractures/Pseudo-Fractures, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities307Exon 3
PHEX_0818c.310delp.Tyr104Ilefs*4-4/28/2021Small deletionFrameshiftPHEX< 332329911, 348067942-310Exon 3
PHEX_1001c.316delp.Trp106Glyfs*2Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3-0Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature316Exon 3
PHEX_0108c.318G>Ap.Trp106*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941-318Exon 3
PHEX_0819c.325_326dupp.Asn110Ilefs*7-4/28/2021Small duplicationFrameshiftPHEX< 333295632, 348067942-325Exon 3
PHEX_0109c.327delp.His109Glnfs*7-4/28/2021Small deletionFrameshiftPHEX< 39768674, 16636593, 348067943-327Exon 3
PHEX_0079c.328_330delp.Asn110del-4/28/2021CNVDeletionPHEX< 320157195, 18625346, 348067943-328Exon 3
PHEX_0111c.329_330insCp.Val111Cysfs*2-4/28/2021Small insertionFrameshiftPHEX< 39768674, 348067942-329Exon 3
PHEX_0112c.332_334delp.Val111delLikely Pathogenic2022-02-02 00:00:00Small deletionDeletionPHEX< 3348067941-332Exon 3
PHEX_0820c.349+1G>Ap.?-4/28/2021SplicingSplice donorPHEX< 316636593, 348067942-349Intron 3
PHEX_0114c.349+1G>CSplice donorLikely Pathogenic4/28/2021SplicingSplice donorPHEX< 3348067941-349Intron 3
PHEX_0821c.349+1G>TSplice donorPathogenic4/28/2021SplicingSplice donorPHEX< 3348067941Lower limb deformities349Intron 3
PHEX_0115c.349+2delSplice donorPathogenic4/28/2021SplicingSplice donorPHEX< 3348067941-349Intron 3
PHEX_0116c.349+2T>Cp.?Pathogenic4/28/2021SplicingSplice donorPHEX< 319219621, 34141703, 348067943Other Musculoskeletal Abnormalities, Lower Limb Deformities349Intron 3
PHEX_1002c.350-14216G>Ap.?Benign2022-02-02 00:00:00SplicingIntronicPHEX<3216183451-350Intron 3
PHEX_0126c.350-2A>Gp.?Pathogenic4/28/2021SplicingSplice acceptorPHEX3-526051471, 29460029, 348067943Other Musculoskeletal Abnormalities, Lower Limb Deformities350Intron 3
PHEX_0120c.350-1G>Ap.?-4/28/2021SplicingSplice acceptorPHEX< 322577109, 348067942-350Intron 3
PHEX_1003c.350-1G>CSplice acceptorPathogenic2022-02-02 00:00:00SplicingSplice acceptorPHEX<3-0350Intron 3
PHEX_0125c.350-1G>Tp.?-4/28/2021SplicingSplice acceptorPHEX3-522101457, 29460029, 19219621, 348067944Other Musculoskeletal Abnormalities, Lower Limb Deformities350Intron 3
PHEX_0127c.350-?_436+?delDeletion (Exon 4)Pathogenic4/28/2021CNVDeletionPHEX< 332253725, 348067942Fractures/Pseudo-Fractures, Lower Limb Deformities, abnormal bone development, bowed or bent leg, short stature350Intron 3
PHEX_0122c.350-?_663+?delDeletion (Exons 4-5)Pathogenic4/28/2021CNVDeletionPHEX3-516636593, 9199930, 348067943-350Exons 4-5
PHEX_0119c.350-?_732+?delDeletion (Exons 4-6)Pathogenic4/28/2021CNVDeletionPHEX< 3348067941-350Intron 3
PHEX_1117c.350-?_933+?dupGain (Exons 4-8)Pathogenic2022-02-02 00:00:00DuplicationPHEX<3-0Lower limb deformities, Short Stature350Intron 3
PHEX_1118c.350-?_1079+?dupGain (Exons 4-9)Likely Pathogenic2022-02-02 00:00:00DuplicationPHEX<3-0Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short Stature350Intron 3
PHEX_0124c.350-?_1404+?delDeletion (Exons 4-12)Pathogenic4/28/2021CNVDeletionPHEX< 332253725, 348067942abnormal bone development, bowed or bent leg, short stature350Intron 3
PHEX_0128c.350-?_1899+?delDeletion (Exons 4-18)-4/28/2021CNVDeletionPHEX< 322695891, 348067942-350Exons 4-18
PHEX_0118c.350-?_*3357+?delDeletion (Exons 4-22)Pathogenic4/28/2021CNVDeletionPHEX< 3348067941-350Intron 3
PHEX_0129c.361A>Tp.Lys121*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941-361Exon 4
PHEX_0113c.388G>Tp.Glu130*-4/28/2021SNVNonsensePHEX< 330075510, 348067942-388Exon 4
PHEX_0130c.395_398dupp.Gln133Hisfs*14-4/28/2021Small duplicationFrameshiftPHEX< 324926462, 23079138, 21902834, 348067944nephrocalcinosis395Exon 4
PHEX_0131c.397C>Tp.Gln133*Pathogenic4/28/2021SNVNonsensePHEX3-521050253, 18057152, 348067943Gait Abnormalities, Nervous System, Lower Limb Deformities397Exon 4
PHEX_0132c.401_402insGCCAAAp.Lys134_Ala135insProLys-4/28/2021Small insertionInsertionPHEX< 328383812, 348067942Lower Limb Deformities401Exon 4
PHEX_1004c.402delp.Ala135Profs*9Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3341417031-402Exon 4
PHEX_0133c.404C>Ap.Ala135AspUncertain Significance4/28/2021SNVMissensePHEX< 3348067941-404Exon 4
PHEX_0823c.409dupp.Ile137Asnfs*9Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941-409Exon 4
PHEX_1103c.411_414delp.Leu138Ilefs*5Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3341417031-411Exon 4
PHEX_0134c.412delp.Leu138Phefs*6-4/28/2021Small deletionFrameshiftPHEX3-524229582, 16636593, 15057978, 24857004, 348067945Short Stature, Lower Limb Deformities412Exon 4
PHEX_1005c.413_419dupp.Ser141Leufs*7Pathogenic2022-02-02 00:00:00Small insertionFrameshiftPHEX<3-0419Exon 4
PHEX_0135c.413T>Cp.Leu138Pro-4/28/2021SNVMissensePHEX3-510439971, 27884786, 23079138, 9097956, 16636593, 24926462, 19219621, 10874297, 348067949Other Musculoskeletal Abnormalities, Lower Limb Deformities413Exon 4
PHEX_0136c.415delp.Tyr139Ilefs*5-4/28/2021Small deletionFrameshiftPHEX< 319219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities415Exon 4
PHEX_0137c.416A>Gp.Tyr139CysPathogenic2022-02-02 00:00:00SNVMissensePHEX3-5348067941Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities416Exon 4
PHEX_0138c.418T>Cp.Ser140Pro-4/28/2021SNVMissensePHEX< 3348067941-418Exon 4
PHEX_0139c.419C>Gp.Ser140*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941-419Exon 4
PHEX_0140c.421T>Cp.Ser141Pro-4/28/2021SNVMissensePHEX< 316636593, 26894575, 348067943-421Exon 4
PHEX_0141c.422C>Tp.Ser141Phe-4/28/2021SNVMissensePHEX3-526894575, 348067942Short Stature, Lower Limb Deformities422Exon 4
PHEX_0142c.423delp.Cys142Alafs*2Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities423Exon 4
PHEX_0143c.424T>Cp.Cys142Arg-4/28/2021SNVMissensePHEX< 325086671, 348067942-424Exon 4
PHEX_0145c.425G>Cp.Cys142SerUncertain Significance4/28/2021SNVMissensePHEX3-510439971, 16636593, 32253725, 348067944Other Musculoskeletal Abnormalities, Lower Limb Deformities, abnormal bone development, pectus carinatum, bowed or bent leg425Exon 4
PHEX_0144c.425G>Tp.Cys142PhePathogenic4/28/2021SNVMissensePHEX< 3348067941Gait Abnormalities, Lower Limb Deformities425Exon 4
PHEX_0146c.426C>Ap.Cys142*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941-426Exon 4
PHEX_0147c.433G>Tp.Glu145*-4/28/2021SNVNonsensePHEX< 330393837, 348067942-433Exon 4
PHEX_1006c.436_436+1delp.?Pathogenic2022-02-02 00:00:00Small deletionSplice donorPHEX3-534141703, 278408942short stature, genu varum436Exon 4, Intron 4
PHEX_0149c.436+1G>Ap.?Pathogenic4/28/2021SplicingSplice donorPHEX< 324857004, 29505567, 348067943Short Stature, Lower Limb Deformities, Gait Abnormalities, Skull Deformities436Intron 4
PHEX_0153c.436+1G>Cp.?Pathogenic4/28/2021SplicingSplice donorPHEX3-518625346, 29505567, 34141703, 27840894, 348067945stunted growth, genu varum436Intron 4
PHEX_0151c.436+1G>Tp.?-4/28/2021SplicingSplice donorPHEX3-529460029, 29505567, 348067943Short Stature, Lower Limb Deformities436Intron 4
PHEX_0156c.436+2T>Ap.?Pathogenic4/28/2021SplicingSplice donorPHEX3-510439971, 31102713, 16636593, 348067944Lower Limb Deformities, Gait Abnormalities, Gait abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities, Tooth abscesses and/or excessive dental caries436Intron 4
PHEX_0155c.436+3G>Cp.?Likely Pathogenic4/28/2021SplicingIntronicPHEX3-531102713, 21902834, 24857004, 348067944Short Stature, Other Musculoskeletal Abnormalities436Intron 4
PHEX_0150c.436+4A>Cp.?-4/28/2021SplicingIntronicPHEX3-531102713, 19219621, 24857004, 348067944Other Musculoskeletal Abnormalities, Lower Limb Deformities436Intron 4
PHEX_0154c.436+4A>GIntronicPathogenic4/28/2021SplicingIntronicPHEX3-5348067941-436Intron 4
PHEX_0824c.436+4A>Tp.?-4/28/2021SplicingIntronicPHEX< 333639975, 348067942-436Intron 4
PHEX_1007c.436+5_436+8delp.?Uncertain Significance2022-02-02 00:00:00Small deletionSplice donorPHEX<3186253461-436Intron 4
PHEX_0157c.436+5G>AIntronicUncertain Significance4/28/2021SplicingIntronicPHEX< 3348067941-436Intron 4
PHEX_0152c.436+5G>Tp.?-4/28/2021SplicingIntronicPHEX< 315057978, 348067942-436Intron 4
PHEX_1008c.436+6T>AIntronicLikely Pathogenic2022-02-02 00:00:00SplicingSplice donorPHEX<3-0Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Lower limb deformities436Intron 4
PHEX_0148c.436+6T>Cp.?-4/28/2021SplicingIntronicPHEX6-1018252791, 31102713, 24857004, 348067944Muscle Pain and/or Weakness and/or Fatigue, Bone and/or Joint Pain and/or Joint Stiffness, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Bone Density Abnormalities, Thyroid436Intron 4
PHEX_0160c.437-3C>Gp.?Uncertain Significance4/28/2021SplicingIntronicPHEX3-531102713, 19219621, 24857004, 348067944Other Musculoskeletal Abnormalities, Lower Limb Deformities437Intron 4
PHEX_0161c.437-2A>CSplice acceptorLikely Pathogenic4/28/2021SplicingSplice acceptorPHEX< 3348067941-437Intron 4
PHEX_0159c.437-2A>GSplice acceptorPathogenic4/28/2021SplicingSplice acceptorPHEX3-5348067941Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities437Intron 4
PHEX_0162c.437-?_1404+?delDeletion (Exons 5-12)Pathogenic4/28/2021CNVDeletionPHEX< 3348067941-437Intron 4
PHEX_0825c.444delp.Ile148Metfs*73Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941Gait abnormalities, Lower limb deformities444Exon 5
PHEX_0163c.455dupp.Asp152Glufs*20Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941-455Exon 5
PHEX_0164c.457dupp.Ala153Glyfs*19Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941-457Exon 5
PHEX_0165c.463C>Gp.Pro155Ala-4/28/2021SNVMissensePHEX< 322996961, 348067942-463Exon 5
PHEX_0166c.465_466dupp.Leu156Hisfs*66-4/28/2021Small insertionFrameshiftPHEX< 324926462, 30599486, 23079138, 22261628, 18162710, 348067946Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities465Exon 5
PHEX_0826c.468dupp.Leu157Alafs*15Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941Lower limb deformities, Reduced Serum Phosphate468Exon 5
PHEX_0827c.471delp.His158Thrfs*63-4/28/2021Small deletionFrameshiftPHEX< 333639975, 348067942-471Exon 5
PHEX_0167c.479T>Gp.Leu160Arg-4/28/2021SNVMissensePHEX< 316636593, 11004247, 348067943-479Exon 5
PHEX_0168c.482G>Cp.Arg161ProLikely Pathogenic2022-02-02 00:00:00SNVMissensePHEX3-521050253, 348067942Lower Limb Deformities482Exon 5
PHEX_0169c.485A>Gp.His162Arg-4/28/2021SNVMissensePHEX< 39768674, 348067942-485Exon 5
PHEX_1009c.488C>Ap.Ser163*Pathogenic2022-02-02 00:00:00SNVNonsensePHEX<3337962551short stature, pain, dental abscesses488Exon 5
PHEX_0170c.489A>Gp.Ser163=-4/28/2021SNVSynonymousPHEX< 39768674, 348067942-489Exon 5
PHEX_0171c.496C>Tp.Arg166Cys-4/28/2021SNVMissensePHEX< 310439971, 11502829, 23079138, 16636593, 24926462, 348067946Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities496Exon 5
PHEX_0172c.497delp.Arg166Profs*55-4/28/2021Small deletionFrameshiftPHEX< 330075510, 348067942Other Musculoskeletal Abnormalities, Bone and/or Joint Pain and/or Joint Stiffness, Fractures/Pseudo-Fractures, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Bone Density Abnormalities497Exon 5
PHEX_0173c.499T>Cp.Trp167ArgLikely Pathogenic4/28/2021SNVMissensePHEX6-1033639975, 348067942radiological signs of rickets, abnormal bone development, short stature, Lower Limb Deformities499Exon 5
PHEX_1010c.501G>Ap.Trp167*Pathogenic2022-02-02 00:00:00SNVNonsensePHEX<3336667011-501Exon 5
PHEX_0174c.503C>Tp.Pro168LeuPathogenic2022-02-02 00:00:00SNVMissensePHEX6-1016261449, 29460029, 348067943Gait Abnormalities, Lower Limb Deformities503Exon 5
PHEX_0175c.505G>Ap.Val169Met-4/28/2021SNVMissensePHEX6-1019219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities505Exon 5
PHEX_0176c.508_529delp.Leu170Lysfs*44Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-508Exon 5
PHEX_1011c.518_520delATAinsTTp.Asn173Ilefs*48Pathogenic2022-02-02 00:00:00Deletion/InsertionFrameshiftPHEX<3322537251abnormal bone development, pectus carinatum, bowed or bent leg, short stature518Exon 5
PHEX_1012c.528delp.Glu177Lysfs*44Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<334141703, 278408942genu varum528Exon 5
PHEX_0177c.537T>Ap.Val179=-4/28/2021SNVSynonymousPHEX< 39768674, 348067942-537Exon 5
PHEX_0178c.538delp.Trp180Glyfs*41Pathogenic4/28/2021Small deletionFrameshiftPHEX6-1019201216, 27884786, 19219621, 348067944-538Exon 5
PHEX_0179c.540G>Ap.Trp180*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries540Exon 5
PHEX_0180c.542C>Gp.Ser181*-4/28/2021SNVNonsensePHEX< 329460029, 348067942-542Exon 5
PHEX_0181c.547_548delp.Arg183Lysfs*28-4/28/2021Small deletionFrameshiftPHEX< 323813354, 348067942-547Exon 5
PHEX_1104c.548_549delp.Arg183Lysfs*28Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3322537251abnormal bone development, bowed or bent leg, short stature548Exon 5
PHEX_0182c.551dupp.Phe185Valfs*27Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941Gait Abnormalities, Lower Limb Deformities551Exon 5
PHEX_0828c.552delp.Lys184Asnfs*37Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941Reduced Serum Phosphate, Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries552Exon 5
PHEX_0184c.565C>Tp.Gln189*-4/28/2021SNVNonsensePHEX3-516261449, 23079138, 12414858, 24926462, 21902834, 16636593, 33796255, 348067948Short Stature, Other Musculoskeletal Abnormalities, pain565Exon 5
PHEX_0829c.567_568delp.Gln189Hisfs*22-4/28/2021Small deletionFrameshiftPHEX< 329707405, 348067942-567Exon 5
PHEX_0183c.567_576delp.Thr190Argfs*28-4/28/2021Small deletionFrameshiftPHEX3-522577109, 348067942-567Exon 5
PHEX_1013c.572T>Cp.Leu191ProLikely Pathogenic2022-02-02 00:00:00SNVMissensePHEX<3322537251short stature, pain, bowed or bent leg, dental abscesses572Exon 5
PHEX_0185c.574dupp.Ala192Glyfs*20Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941-574Exon 5
PHEX_0186c.589C>Tp.Gln197*-4/28/2021SNVNonsensePHEX< 330599486, 348067942Short Stature, Bone Density Abnormalities, Lower Limb Deformities589Exon 5
PHEX_0187c.591A>Gp.Gln197=Pathogenic4/28/2021SNVSynonymousPHEX11-2021902834, 29393334, 348067943Other Musculoskeletal Abnormalities, Reduced_TmP/GFR_(591Exon 5
PHEX_0188c.593dupp.Tyr198*Pathogenic4/28/2021Small duplicationNonsensePHEX< 3348067941-593Exon 5
PHEX_1105c.594C>Ap.Tyr198*Pathogenic2022-02-02 00:00:00SNVNonsensePHEX<3322537251abnormal bone development, short stature594Exon 5
PHEX_0189c.594C>Gp.Tyr198*-4/28/2021SNVNonsensePHEX< 316636593, 11004247, 348067943-594Exon 5
PHEX_0190c.610_663+50delp.?-4/28/2021Small deletionDeletionPHEX< 316636593, 9199930, 9097956, 348067944-610Exon 5, intron 5
PHEX_0830c.614G>Cp.Arg205Pro-4/28/2021SNVMissensePHEX< 329901142, 34141703, 348067943-614Exon 5
PHEX_0192c.617T>Ap.Leu206*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941-617Exon 5
PHEX_0191c.617T>Gp.Leu206Trp-4/28/2021SNVMissensePHEX3-516636593, 21293852, 23813354, 24857004, 348067945Short Stature, Lower Limb Deformities617Exon 5
PHEX_1014c.620_623delp.Tyr207Cysfs*13Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3336667011-620Exon 5
PHEX_0193c.621T>Ap.Tyr207*-4/28/2021SNVNonsensePHEX< 319219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities621Exon 5
PHEX_0194c.630delp.Asp211Metfs*10-4/28/2021Small deletionFrameshiftPHEX< 329460029, 348067942-630Exon 5
PHEX_1015c.637A>Tp.Lys213*Pathogenic2022-02-02 00:00:00SNVNonsensePHEX<3341417031-637Exon 5
PHEX_1016c.643dupp.Ser215Phefs*3Pathogenic2022-02-02 00:00:00Small insertionFrameshiftPHEX<3-0643Exon 5
PHEX_0195c.649G>Tp.Glu217*Pathogenic4/28/2021SNVNonsensePHEX3-59768674, 16636593, 348067943Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries649Exon 5
PHEX_0831c.652_655delp.His218Serfs*2-4/28/2021Small deletionFrameshiftPHEX< 329707405, 348067942-652Exon 5
PHEX_0196c.655_656delp.Ile219Leufs*18-4/28/2021Small deletionFrameshiftPHEX< 326051471, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities655Exon 5
PHEX_1017c.657_658delp.Leu220Glufs*17Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3322537251short stature, pectus carinatum657Exon 5
PHEX_0198c.663_663+12delIntronic-4/28/2021Small deletionSplice donorPHEX< 325153221, 348067942Other Musculoskeletal Abnormalities, Short Stature, Lower Limb Deformities, Skull Deformities663Exon 5, Intron 5
PHEX_0197c.663_1176delp.Leu222Serfs*15-4/28/2021CNVFrameshiftPHEX< 321050253, 348067942-663Exon 6
PHEX_0199c.663G>Ap.Lys221=Likely Pathogenic4/28/2021Splicingsplice donorPHEX3-5348067941Reduced Serum Phosphate, Gait Abnormalities, Lower Limb Deformities, Lower limb deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries663Exon 5
PHEX_0200c.663+1G>Ap.?Pathogenic4/28/2021SplicingSplice donorPHEX3-530599486, 25031893, 348067943Short Stature, Lower Limb Deformities, Gait Abnormalities, Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries663Intron 5
PHEX_0832c.663+1G>Tp.?Pathogenic4/28/2021SplicingSplice donorPHEX3-533295632, 348067942-663Intron 5
PHEX_0201c.663+2delp.?-4/28/2021Small deletionSplice donorPHEX3-523813354, 21293852, 24857004, 348067944-663Intron 5
PHEX_0202c.663+2T>ASplice donorPathogenic4/28/2021SplicingSplice donorPHEX< 3348067941Gait Abnormalities, Lower Limb Deformities663Intron 5
PHEX_0203c.663+2T>CSplice donorPathogenic4/28/2021SplicingSplice donorPHEX3-5348067941Lower Limb Deformities, Gait abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities663Intron 5
PHEX_0204c.664-2A>CSplice acceptorLikely Pathogenic4/28/2021SplicingSplice acceptorPHEX< 3348067941-664Intron 5
PHEX_0833c.664-1G>Cp.?-4/28/2021SplicingSplice acceptorPHEX< 332329911, 348067942-664Intron 5
PHEX_0205c.664-?_732+?delDeletion (Exon 6)Pathogenic4/28/2021CNVDeletionPHEX< 39768674, 9199930, 16636593, 348067944-664Exon 6
PHEX_1119c.664-?_732+?dupGain (Exon 6)Uncertain Significance2022-02-02 00:00:00Small duplicationPHEX<3-0-664Exon 6
PHEX_1120c.664-?_849+?delDeletion (Exons 6-7)2022-02-02 00:00:00DeletionPHEX3-5336667011-664Exon 6 - 7
PHEX_0206c.664-?_933+?delDeletion (Exons 6-8)Pathogenic4/28/2021CNVDeletionPHEX< 3348067941-664Intron 5
PHEX_0207c.664-?_1079+?delDeletion (Exons 6-9)Pathogenic4/28/2021CNVDeletionPHEX< 3348067941-664Intron 5
PHEX_1121c.664-?_1302+?delDeletion (Exons 6-11)2022-02-02 00:00:00DeletionPHEX<3341417031-664Exon 6 - 11
PHEX_0834c.665_674delp.Leu222Glnfs*7-4/28/2021Small deletionFrameshiftPHEX< 329707405, 348067942-665Exon 6
PHEX_0208c.665T>Cp.Leu222Pro-4/28/2021SNVMissensePHEX< 319219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities665Exon 6
PHEX_0209c.670C>Tp.Gln224*Pathogenic4/28/2021SNVNonsensePHEX6-1023079138, 32133333, 21293852, 24857004, 16636593, 24926462, 24857004, 33783172, 348067949bowed or bent legs, short stature, gait disturbance, abnormal bone development670Exon 6
PHEX_1018c.671_685delp.Gln224_Ser228delLikely Pathogenic2022-02-02 00:00:00Small deletionDeletionPHEX<3339070691short stature, bowed or bent leg, abnormal bone development, joint pain, dental caries671Exon 6
PHEX_0210c.674delp.Ala225Glufs*7-4/28/2021Small deletionFrameshiftPHEX< 321050253, 348067942-674Exon 6
PHEX_0211c.677delp.Thr226Asnfs*6-4/28/2021Small deletionFrameshiftPHEX< 316636593, 15057978, 348067943-677Exon 6
PHEX_0214c.682_683delp.Ser228Profs*9Pathogenic4/28/2021Small deletionFrameshiftPHEX3-516636593, 9199930, 33639975, 21553362, 348067945hearing loss, renal calcification, hypothyroidism682Exon 6
PHEX_0213c.682dupp.Ser228Phefs*10-4/28/2021Small duplicationFrameshiftPHEX< 321902834, 348067942Short Stature, Other Musculoskeletal Abnormalities682Exon 6
PHEX_0215c.690C>Tp.Ala230=-4/28/2021SNVSynonymousPHEX< 311502829, 348067942Lower Limb Deformities690Exon 6
PHEX_0216c.710A>Gp.Asp237Gly-4/28/2021SNVMissensePHEX< 310439971, 23079138, 16636593, 24926462, 12727977, 348067946-710Exon 6
PHEX_0835c.717_721delp.Ser239Argfs*23Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-717Exon 6
PHEX_1019c.719delp.Thr240Lysfs*21Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3-0Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Lower limb deformities719Exon 6
PHEX_0217c.724delp.Ala242Profs*19Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-724Exon 6
PHEX_0218c.732+1_732+2delp.?-4/28/2021Small deletionSplice donorPHEX3-527884786, 19219621, 32253725, 348067944Other Musculoskeletal Abnormalities, bowed or bent legs, Lower Limb Deformities, dental abscesses, abnormal bone development, short stature732Intron 6
PHEX_0836c.732+1G>Ap.?-4/28/2021SplicingSplice donorPHEX< 332329911, 348067942-732Intron 6
PHEX_0219c.732+1G>Cp.?-4/28/2021SplicingSplice donorPHEX< 332329911, 29460029, 348067943bowed or bent legs, dental caries732Intron 6
PHEX_0221c.732+1G>Tp.?Pathogenic4/28/2021SplicingSplice donorPHEX3-59097956, 24857004, 348067943-732Intron 6
PHEX_1020c.732+3A>TIntronicUncertain Significance2022-02-02 00:00:00SplicingSplice donorPHEX<3-0Lower limb deformities, Short Stature732Intron 6
PHEX_0220c.732+4_732+5insCAIntronicUncertain Significance4/28/2021SplicingIntronicPHEX< 3348067941-732Intron 6
PHEX_0223c.733-2A>CSplice acceptorLikely Pathogenic4/28/2021SplicingSplice acceptorPHEX< 3348067941-733Intron 6
PHEX_1021c.733-2A>TSplice acceptorPathogenic2022-02-02 00:00:00SplicingSplice acceptorPHEX<3-0Gait abnormalities, Lower limb deformities, Short Stature733Intron 6
PHEX_0224c.733-1G>Ap.?Pathogenic4/28/2021SplicingSplice acceptorPHEX6-109097956, 348067942Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate733Intron 6
PHEX_0226c.733-1G>Cp.?Pathogenic4/28/2021SplicingSplice acceptorPHEX< 39097956, 348067942-733Intron 6
PHEX_0225c.733-1G>Tp.?-4/28/2021SplicingSplice acceptorPHEX< 319219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities733Intron 6
PHEX_0222c.733-?_849+?delDeletion (Exon 7)Likely Pathogenic4/28/2021CNVDeletionPHEX< 3348067941Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities733Intron 6
PHEX_0837c.733-?_933+?delDeletion (Exons 7-8)-4/28/2021CNVDeletionPHEX< 327884786, 348067942-733Exons 7-8
PHEX_0839c.733-?_1079+?delDeletion (Exons 7-9)Pathogenic4/28/2021CNVDeletionPHEX< 3348067941Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate733Intron 6
PHEX_0838c.733-?_1302+?delDeletion (Exons 7-11)-4/28/2021CNVDeletionPHEX< 332329911, 348067942-733Exons 7-11
PHEX_0227c.735T>Gp.Tyr245*-4/28/2021SNVNonsensePHEX< 321553362, 348067942genu varum, bowed or bent leg, nephrocalcinosis, renal dysfunction, hypertension735Exon 7
PHEX_0840c.739delp.Asp247Metfs*14-4/28/2021Small deletionFrameshiftPHEX< 332329911, 348067942-739Exon 7
PHEX_0229c.750C>Ap.Tyr250*Pathogenic4/28/2021SNVNonsensePHEX< 39768674, 16636593, 348067943-750Exon 7
PHEX_0230c.750C>Gp.Tyr250*Pathogenic4/28/2021SNVNonsensePHEX< 321902834, 348067942Short Stature, Other Musculoskeletal Abnormalities750Exon 7
PHEX_0228c.750delp.Tyr250*Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941Lower Limb Deformities750Exon 7
PHEX_0231c.751A>Tp.Lys251*-4/28/2021SNVNonsensePHEX< 316261449, 348067942-751Exon 7
PHEX_0233c.755T>Cp.Phe252Ser-4/28/2021SNVMissensePHEX< 39106524, 16636593, 11502829, 348067944-755Exon 7
PHEX_1130c.?p.Met253IleLikely Pathogenic2022-02-02 00:00:00MissensePHEX<3115028291-759Exon 7
PHEX_0232c.759G>Ap.Met253IlePathogenic4/28/2021SNVMissensePHEX< 316636593, 9106524, 348067943-759Exon 7
PHEX_0236c.763_784dupp.Ala262Glyfs*9-4/28/2021Small duplicationFrameshiftPHEX< 3348067941-763Exon 7
PHEX_0238c.766_767dupp.Ala257Leufs*5Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities766Exon 7
PHEX_0237c.766A>Cp.Thr256ProUncertain Significance4/28/2021SNVMissensePHEX< 3348067941-766Exon 7
PHEX_0841c.767_768delp.Thr256Serfs*7-4/28/2021Small deletionFrameshiftPHEX< 332897287, 348067942-767Exon 7
PHEX_0240c.779T>Gp.Leu260*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941-779Exon 7
PHEX_0241c.784G>Cp.Ala262Pro-4/28/2021SNVMissensePHEX< 324926462, 23079138, 21902834, 348067944Other Musculoskeletal Abnormalities784Exon 7
PHEX_0242c.800C>Ap.Ala267Glu-4/28/2021SNVMissensePHEX< 3348067941-800Exon 7
PHEX_1022c.812T>Gp.Met271ArgLikely Pathogenic2022-02-02 00:00:00SNVMissensePHEX<3341417031-812Exon 7
PHEX_0243c.814A>Tp.Lys272*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941-814Exon 7
PHEX_0244c.819_845delp.Val274_Ala282delUncertain Significance4/28/2021Small deletionDeletionPHEX< 3348067941-819Exon 7
PHEX_0245c.824T>Cp.Leu275ProLikely Pathogenic4/28/2021SNVMissensePHEX3-534141703, 27840894, 348067943Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities, stunted growth, genu varum, teeth falling out824Exon 7
PHEX_0246c.830T>Ap.Leu277*-4/28/2021SNVNonsensePHEX< 311502829, 23079138, 9106524, 16636593, 24926462, 348067946Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities830Exon 7
PHEX_0247c.832G>Ap.Glu278Lys-4/28/2021SNVMissensePHEX3-529610183, 348067942Skull Deformities, Lower Limb Deformities832Exon 7
PHEX_0248c.832G>Tp.Glu278*-4/28/2021SNVNonsensePHEX< 310439971, 23079138, 16636593, 24926462, 348067945Other Musculoskeletal Abnormalities832Exon 7
PHEX_0249c.840_849+1del-Pathogenic4/28/2021SplicingSplice donorPHEX< 3348067941-840Exon 7
PHEX_0250c.842T>Ap.Ile281Lys-4/28/2021SNVMissensePHEX< 326377240, 32329911, 348067943bowed or bent legs842Exon 7
PHEX_0251c.845C>Ap.Ala282AspUncertain Significance4/28/2021SNVMissensePHEX< 3348067941-845Exon 7
PHEX_0252c.847_849+2del-Pathogenic4/28/2021SplicingSplice donorPHEX< 3348067941-847Exon 7
PHEX_0256c.849+1G>Ap.?Pathogenic4/28/2021SplicingSplice donorPHEX3-516636593, 12414858, 24857004, 20578943, 348067945-849Intron 7
PHEX_1023c.849+1G>Cp.?Pathogenic2022-02-02 00:00:00SplicingSplice donorPHEX<334141703, 278408942stunted growth, pectus carinatum, abnormal bone development849Intron 7
PHEX_0254c.849+1G>Tp.?-4/28/2021SplicingSplice donorPHEX3-59097956, 21050253, 16636593, 19219621, 348067945Other Musculoskeletal Abnormalities, Lower Limb Deformities849Intron 7
PHEX_0842c.849+3A>Gp.?-4/28/2021SplicingIntronicPHEX< 333295632, 348067942-849Intron 7
PHEX_0255c.849+6_849+7insTp.?-4/28/2021Small insertionIntronicPHEX< 319219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities849Intron 7
PHEX_1024c.849+128G>Ap.?-2022-02-02 00:00:00SplicingIntronicPHEX<3192196211-849Intron 7
PHEX_0253c.849+1268G>Tp.?Uncertain Significance4/28/2021SplicingIntronicPHEX3-511502821, 348067942Short Stature, Other Musculoskeletal Abnormalities, Lower Limb Deformities849Intron 7
PHEX_0261c.850-15_853delinsTCTCTTGG-Pathogenic4/28/2021SplicingSplice acceptorPHEX< 3348067941-850Intron 7
PHEX_0260c.850-3C>Gp.?-4/28/2021SplicingIntronicPHEX< 331102713, 16636593, 348067943-850Intron 7
PHEX_0257c.850-2A>GSplice acceptorPathogenic4/28/2021SplicingSplice acceptorPHEX3-5348067941-850Intron 7
PHEX_0258c.850-?_933+?delDeletion (Exon 8)Likely Pathogenic4/28/2021CNVDeletionPHEX< 3348067941Gait Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities850Intron 7
PHEX_0262c.850-?_1079+?delDeletion (Exons 8-9)Pathogenic4/28/2021CNVDeletionPHEX3-5348067941-850Intron 7
PHEX_0259c.850delp.Ile284*Pathogenic4/28/2021Small deletionNonsensePHEX3-522101457, 29460029, 348067943-850Exon 8
PHEX_0843c.853dupp.Met285Asnfs*5Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941Reduced_TmP/GFR_(853Exon 8
PHEX_0263c.871C>Tp.Arg291*Pathogenic4/28/2021SNVNonsensePHEX30+10439971, 9199930, 33358363, 30607568, 23466123, 29460029, 9768674, 32133333, 33639975, 32329911, 11502829, 26040324, 28506344, 11004247, 19219621, 33295632, 29707405, 16636593, 33537138, 22161748, 10874297, 34141703, 27840894, 3480679424Other Musculoskeletal Abnormalities, Short Stature, Cardio Vascular Disease, Lower Limb Deformities, Gait Abnormalities, Fractures/Pseudo-Fractures, Reduced Serum Phosphate, Tooth Abscesses and/or Excessive Dental Caries, Skull Deformities, Vision, genu varum, teeth falling out871Exon 8
PHEX_0844c.874dupp.Thr292Asnfs*13Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate874Exon 8
PHEX_0264c.883delp.Ala295Profs*6Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-883Exon 8
PHEX_0265c.888_890delinsCp.Tyr297*-4/28/2021Small insertionNonsensePHEX< 330607568, 348067942-888Exon 8
PHEX_0267c.888delinsATp.Met296Ilefs*9Pathogenic4/28/2021Small insertionFrameshiftPHEX< 3348067941Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities888Exon 8
PHEX_0845c.891C>Ap.Tyr297*-4/28/2021SNVNonsensePHEX< 333639975, 348067942-891Exon 8
PHEX_0268c.891C>Gp.Tyr297*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941Gait Abnormalities, Lower Limb Deformities891Exon 8
PHEX_1025c.895A>Tp.Lys299*Pathogenic2022-02-02 00:00:00SNVNonsensePHEX<3-0895Exon 8
PHEX_0269c.897_898delp.Lys299Asnfs*5-4/28/2021Small deletionFrameshiftPHEX< 333639975, 21902834, 348067943Other Musculoskeletal Abnormalities, radiological signs of rickets, abnormal dental development, Short Stature, short stature897Exon 8
PHEX_0270c.898delp.Met300*Pathogenic4/28/2021Small deletionFrameshiftPHEX3-5348067941Gait Abnormalities, Lower limb deformities, Lower Limb Deformities898Exon 8
PHEX_0846c.899_900delp.Met300Lysfs*4-4/28/2021Small deletionFrameshiftPHEX< 333295632, 348067942-899Exon 8
PHEX_0271c.904A>Gp.Ile302Val-4/28/2021SNVMissensePHEX< 3348067941-904Exon 8
PHEX_1026c.907delp.Ser303Leufs*3Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3-0Gait abnormalities, Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short Stature907Exon 8
PHEX_0272c.907T>Ap.Ser303Thr-4/28/2021SNVMissensePHEX< 330607568, 348067942-907Exon 8
PHEX_0273c.914T>Cp.Leu305Pro-4/28/2021SNVMissensePHEX< 318775977, 348067942Cardio Vascular Disease, Lower Limb Deformities, Kidney Disease, Thyroid914Exon 8
PHEX_1027c.917delp.Ser306Metfs*3Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3341417031-917Exon 8
PHEX_0274c.924_927dupp.Pro310Aspfs*15Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries924Exon 8
PHEX_1106c.927delp.Gln311Serfs*20Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3322537251abnormal bone development, bowed or bent leg, short stature927Exon 8
PHEX_0275c.931C>Tp.Gln311*Pathogenic4/28/2021SNVNonsensePHEX6-109097956, 16636593, 28506344, 19219621, 22161748, 34141703, 27840894, 348067948Other Musculoskeletal Abnormalities, Lower Limb Deformities, Bone and/or joint pain and/or joint stiffness, Short Stature, stunted growth, genu varum931Exon 8
PHEX_1107c.931delp.Gln311Serfs*20Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3341417031-931Exon 8
PHEX_0847c.931dupp.Gln311Profs*13-4/28/2021Small duplicationFrameshiftPHEX< 328506344, 348067942-931Exon 8
PHEX_0276c.933+1G>Ap.?Pathogenic4/28/2021SplicingSplice donorPHEX< 330682568, 348067942Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Fractures/pseudo-fractures, Lower limb deformities, Short Stature933Intron 8
PHEX_1028c.933+1G>Cp.?Pathogenic2022-02-02 00:00:00SplicingSplice donorPHEX<3322537251abnormal bone development, pectus carinatum, bowed or bent leg, short stature933Intron 8
PHEX_0266c.933+1G>Tp.?Pathogenic4/28/2021SplicingSplice donorPHEX< 39199930, 348067942Bone and/or joint pain and/or joint stiffness, Lower limb deformities933Intron 8
PHEX_0279c.933+2T>ASplice donor-4/28/2021SplicingFrameshiftPHEX< 3348067941-933Intron 8
PHEX_0278c.934-16_934-12delinsCTACCTAACTGAGATIntronicUncertain Significance4/28/2021SplicingIntronicPHEX< 3348067941Gait Abnormalities, Lower Limb Deformities934Intron 8
PHEX_1029c.934-12_936delp.?Likely Pathogenic2022-02-02 00:00:00Small deletionSplice acceptorPHEX<3322537251abnormal bone development, pectus carinatum, bowed or bent leg, short stature934Exon 9, Intron 8
PHEX_0277c.934-2A>GSplice acceptorPathogenic4/28/2021SplicingSplice acceptorPHEX< 39768674, 16636593, 348067943-934Intron 8
PHEX_0283c.934-1_937dupp.Asp313Glyfs*20-4/28/2021Small insertionFrameshiftPHEX< 316636593, 348067942-937Intron 8, exon 9
PHEX_1030c.934-1G>Ap.?Pathogenic2022-02-02 00:00:00SplicingSplice acceptorPHEX<3285091231bowed or bent legs, short stature934Intron 8
PHEX_0282c.934-1G>Tp.?Pathogenic4/28/2021SplicingSplice acceptorPHEX< 324926462, 30599486, 348067943Short Stature, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries934Intron 8
PHEX_0281c.934-?_1079+?delDeletion (Exon 9)-4/28/2021CNVDeletionPHEX< 39199930, 348067942-934Intron 8
PHEX_0280c.934-?_*3357+?delDeletion (Exons 9-22)Pathogenic4/28/2021CNVDeletionPHEX< 3348067941-934Intron 8
PHEX_1131c.?p.Trp314ArgLikely Pathogenic2022-02-02 00:00:00MissensePHEX<3221617481-940Exon 9
PHEX_1108c.940T>Cp.Trp314ArgLikely Pathogenic2022-02-02 00:00:00SNVMissensePHEX<3341417031-940Exon 9
PHEX_0284c.941G>Ap.Trp314*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941-941Exon 9
PHEX_0287c.?p.Trp314*-4/28/2021SNVNonsensePHEX3-511502829, 348067942Lower Limb Deformities942Exon 9
PHEX_0286c.942G>Ap.Trp314*Pathogenic4/28/2021SNVNonsensePHEX< 316636593, 348067942Lower Limb Deformities, Gait abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities942Exon 9
PHEX_1031c.943_946delp.Leu315Alafs*15Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3-0943Exon 9
PHEX_0288c.947G>Tp.Gly316Val-4/28/2021SNVMissensePHEX< 325861491, 348067942Short Stature, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Bone Density Abnormalities947Exon 9
PHEX_0848c.949T>Ap.Tyr317Asn-4/28/2021SNVMissensePHEX< 332329911, 348067942-949Exon 9
PHEX_0289c.950A>Tp.Tyr317Phe-4/28/2021SNVMissensePHEX3-59768674, 16636593, 12727977, 22161748, 25861491, 21604088, 22713460, 10439971, 348067949Lower Limb Deformities950Exon 9
PHEX_0290c.956dupp.Lys320Glufs*4Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941-956Exon 9
PHEX_0291c.958_960delp.Lys320delUncertain Significance4/28/2021Small deletionDeletionPHEX3-526377240, 22695891, 348067943Gait Abnormalities, Lower Limb Deformities958Exon 9
PHEX_0292c.961_962insAGTTACTGp.Val321Glufs*13-4/28/2021Small insertionFrameshiftPHEX< 316636593, 9097956, 348067943-961Exon 9
PHEX_0293c.962ins8Frameshift-4/28/2021Small insertionFrameshiftPHEX< 39768674, 348067942-962Exon 9
PHEX_0295c.978_979dupp.Tyr327Serfs*5Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 319219621, 348067942-978Exon 9
PHEX_0296c.979_983dupp.His329Thrfs*4-4/28/2021Small duplicationFrameshiftPHEX< 329505567, 348067942Short Stature, Lower Limb Deformities979Exon 9
PHEX_0299c.981C>Gp.Tyr327*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941Tooth Abscesses and/or Excessive Dental Caries981Exon 9
PHEX_0300c.985dupp.His329Profs*20Pathogenic4/28/2021Small insertionFrameshiftPHEX< 39768674, 16636593, 9768675, 9097956, 348067945-985Exon 9
PHEX_1109c.986_1004delATCTGAAAGACATCAGCCCp.His329Profs*20Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3322537251abnormal bone development, pectus carinatum, bowed or bent leg986Exon 9
PHEX_0301c.994delp.Asp332Thrfs*23Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-994Exon 9
PHEX_0849c.998_1000delp.Ile333del-4/28/2021Small deletionDeletionPHEX< 332329911, 348067942-998Exon 9
PHEX_0303c.1002_1003insGp.Pro335Alafs*14-4/28/2021Small insertionFrameshiftPHEX< 319219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities1002Exon 9
PHEX_0302c.1005delp.Ser336Profs*19-4/28/2021Small deletionFrameshiftPHEX< 322577109, 348067942-1005Exon 9
PHEX_0304c.1008dupp.Glu337Argfs*12-4/28/2021Small insertionMissensePHEX< 321994957, 348067942-1008Exon 9
PHEX_0305c.1009G>Tp.Glu337*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941-1009Exon 9
PHEX_0306c.1013_1018delp.Asn338_Val340delinsMet-4/28/2021Small deletionDeletion/InsertionPHEX< 316636593, 15057978, 348067943-1013Exon 9
PHEX_0850c.1009_1405-9282delPartial Deletion (Exons 9-12)Pathogenic4/28/2021SplicingSplice donorPHEX< 3348067941Reduced Serum Phosphate1009Intron 8
PHEX_1032c.1016T>Ap.Val339GluLikely Pathogenic2022-02-02 00:00:00SNVMissensePHEX<3341417031-1016Exon 9
PHEX_0307c.1020_1022delp.Val341delUncertain Significance4/28/2021Small deletionDeletionPHEX< 316636593, 348067942Reduced_TmP/GFR_(1020Exon 9
PHEX_0308c.1021delp.Val341Serfs*14Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-1021Exon 9
PHEX_0309c.1022dupp.Arg342Profs*7-4/28/2021Small duplicationFrameshiftPHEX< 3348067941-1022Exon 9
PHEX_0851c.1027G>Ap.Val343IleUncertain Significance4/28/2021SNVMissensePHEX< 3348067941Lower limb deformities, Reduced Serum Phosphate1027Exon 9
PHEX_0310c.1033C>Tp.Gln345*-4/28/2021SNVNonsensePHEX< 322101457, 29460029, 348067943-1033Exon 9
PHEX_0311c.1034delp.Gln345Argfs*10-4/28/2021Small deletionFrameshiftPHEX< 322577109, 348067942-1034Exon 9
PHEX_0312c.1036T>Gp.Tyr346Asp-4/28/2021SNVMissensePHEX< 319219621, 22161748, 348067943Other Musculoskeletal Abnormalities, Lower Limb Deformities1036Exon 9
PHEX_0313c.1037A>Gp.Tyr346CysUncertain Significance4/28/2021SNVMissensePHEX< 3348067941-1037Exon 9
PHEX_1033c.1038C>Ap.Tyr346*Pathogenic2022-02-02 00:00:00SNVNonsensePHEX<3341417031-1038Exon 9
PHEX_0314c.1042A>Tp.Lys348*-4/28/2021SNVNonsensePHEX< 316636593, 9097956, 19219621, 22161748, 348067945Other Musculoskeletal Abnormalities, Lower Limb Deformities1042Exon 9
PHEX_0315c.1044delp.Asp349Ilefs*6-4/28/2021Small deletionFrameshiftPHEX< 321050253, 32619592, 348067943-1044Exon 9
PHEX_1034c.1046A>Gp.Asp349GlyLikely Pathogenic2022-02-02 00:00:00SNVMissensePHEX<3-01046Exon 9
PHEX_0316c.1046dupp.Asp349Glufs*4Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941-1046Exon 9
PHEX_1122c.1052_1053ins?p.Phe351fsPathogenic2022-02-02 00:00:00Small insertionPHEX<3-0Lower limb deformities, Short Stature1052Exon 9
PHEX_0852c.1053_1077dupp.Lys360*Pathogenic4/28/2021Small duplicationNonsensePHEX< 3348067941Gait abnormalities, Lower limb deformities1053Exon 9
PHEX_1035c.1065delp.Ser356Leufs*37Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3322537251abnormal bone development, pectus carinatum, bowed or bent leg, short stature1065Exon 9
PHEX_0318c.1076delp.Lys359Argfs*34-4/28/2021Small deletionFrameshiftPHEX< 316636593, 9097956, 348067943-1076Exon 9
PHEX_0321c.1079+1G>Ap.?Pathogenic4/28/2021SplicingSplice donorPHEX6-1032329911, 32133333, 15057978, 21050253, 16636593, 33639975, 348067947Lower Limb Deformities, Gait Abnormalities, Gait abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities1079Intron 9
PHEX_0322c.1079+1G>Tp.?Pathogenic4/28/2021SplicingSplice donorPHEX3-533639975, 30607568, 348067943radiological signs of rickets, short stature, abnormal bone development1079Intron 9
PHEX_0320c.1079+2_1079+5delp.?-4/28/2021Small deletionSplice donorPHEX3-515057978, 19219621, 34141703, 348067944-1079Intron 9
PHEX_0319c.1079+2T>Gp.?Pathogenic4/28/2021SplicingSplice donorPHEX< 310439971, 23079138, 16636593, 24926462, 348067945Fractures/Pseudo-Fractures, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities1079Intron 9
PHEX_0326c.1080-3C>Ap.?-4/28/2021SplicingIntronicPHEX3-531102713, 26107949, 348067943Tooth Abscesses and/or Excessive Dental Caries, Short Stature, Lower Limb Deformities1080Intron 9
PHEX_0329c.1080-2A>Cp.?-4/28/2021SplicingSplice acceptorPHEX6-1026904698, 31102713, 348067943Other Musculoskeletal Abnormalities, Lower Limb Deformities1080Intron 9
PHEX_0330c.1080-2A>Gp.?Pathogenic4/28/2021SplicingSplice acceptorPHEX6-1026051471, 9097956, 348067943Other Musculoskeletal Abnormalities, Cardio Vascular Disease, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Skull Deformities, Nervous System1080Intron 9
PHEX_0328c.1080-1G>ASplice acceptorPathogenic4/28/2021SplicingSplice acceptorPHEX< 3348067941-1080Intron 9
PHEX_0327c.1080-?_1173+?delDeletion (Exon 10)Pathogenic4/28/2021CNVDeletionPHEX< 3348067941-1080Intron 9
PHEX_0325c.1080-?_1302+?delDeletion (Exons 10-11)Pathogenic4/28/2021CNVDeletionPHEX6-1016636593, 32253725, 348067943Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, abnormal bone development, pectus carinatum, bowed or bent leg, short stature1080Intron 9
PHEX_1123c.1080-?_1404+?delDeletion (Exons 10-12)2022-02-02 00:00:00DeletionDeletionPHEX<3341417031-1080Exon 10 - 12
PHEX_1036c.1087G>Cp.Ala363ProPathogenic2022-02-02 00:00:00SNVMissensePHEX<3-01087Exon 10
PHEX_0331c.1088C>Tp.Ala363Val-4/28/2021SNVMissensePHEX3-519513579, 348067942Lower Limb Deformities1088Exon 10
PHEX_0332c.1092C>Ap.Asn364Lys-4/28/2021SNVMissensePHEX< 319219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities1092Exon 10
PHEX_0333c.1103G>Ap.Trp368*Pathogenic4/28/2021SNVNonsensePHEX6-1031903094, 15057978, 16636593, 22695891, 348067945Reduced Serum Phosphate1103Exon 10
PHEX_1037c.1104_1106dupGAGp.Arg369dupLikely Pathogenic2022-02-02 00:00:00Small insertionInsertionPHEX<3322537251abnormal bone development, pectus carinatum, bowed or bent leg, short stature1106Exon 10
PHEX_0334c.1104G>Ap.Trp368*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941-1104Exon 10
PHEX_0335c.1105A>Tp.Arg369*Pathogenic4/28/2021SNVNonsensePHEX3-524926462, 23079138, 21902834, 348067944Other Musculoskeletal Abnormalities, Short Stature, Fractures/Pseudo-Fractures, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities, Fractures/pseudo-fractures1105Exon 10
PHEX_0336c.1106_1108dupp.Arg369dupPathogenic4/28/2021Small duplicationInsertionPHEX< 3348067941-1106Exon 10
PHEX_0337c.1109T>Gp.Met370ArgLikely Pathogenic2022-02-02 00:00:00SNVMissensePHEX6-1018625346, 348067942Gait Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities1109Exon 10
PHEX_0338c.1110_1111insAAGp.Met370_Val371insLys-4/28/2021Small insertionInsertionPHEX< 319219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities1110Exon 10
PHEX_0339c.1116T>Ap.Tyr372*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941-1116Exon 10
PHEX_0340c.1118C>Tp.Ser373Phe-4/28/2021SNVMissensePHEX< 321050253, 348067942-1118Exon 10
PHEX_0341c.1133T>Cp.Leu378ProUncertain Significance4/28/2021SNVMissensePHEX< 311502829, 23079138, 16636593, 24926462, 348067945Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities1133Exon 10
PHEX_0342c.1134delp.Ser379Alafs*14-4/28/2021Small deletionFrameshiftPHEX< 316636593, 9199930, 348067943-1134Exon 10
PHEX_0343c.1137_1149delp.Arg380Ilefs*9Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-1137Exon 10
PHEX_1038c.1138delp.Arg380Glyfs*13Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3-0Gait abnormalities, Lower limb deformities, Short Stature, Gait abnormalities, Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short Stature1138Exon 10
PHEX_0344c.1142G>Ap.Arg381HisUncertain Significance4/28/2021SNVMissensePHEX< 3348067941-1142Exon 10
PHEX_0345c.1146delp.Gln383Serfs*10Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-1146Exon 10
PHEX_0346c.1147C>Tp.Gln383*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941-1147Exon 10
PHEX_0347c.1152dupp.Arg385*-4/28/2021Small insertionFrameshiftPHEX< 323813354, 23813354, 348067943-1152Exon 10
PHEX_0348c.1152T>Gp.Tyr384*Pathogenic4/28/2021SNVNonsensePHEX3-521994957, 19219621, 348067943Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait abnormalities, Lower limb deformities1152Exon 10
PHEX_0349c.1157G>Ap.Trp386*Pathogenic4/28/2021SNVNonsensePHEX< 332329911, 348067942bowed or bent legs, dental caries, Lower Limb Deformities1157Exon 10
PHEX_0351c.?p.Trp386*-4/28/2021SNVNonsensePHEX< 322101457, 348067942-1158Exon 10
PHEX_0350c.1158G>Ap.Trp386*Pathogenic4/28/2021SNVNonsensePHEX3-525894638, 16636593, 29460029, 348067944Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities1158Exon 10
PHEX_0352c.1164dupp.Phe389Ilefs*23-4/28/2021Small insertionFrameshiftPHEX< 321050253, 348067942-1164Exon 10
PHEX_0353c.1166delp.Phe389Serfs*4-4/28/2021Small deletionFrameshiftPHEX3-516636593, 11502829, 348067943Lower Limb Deformities1166Exon 10
PHEX_1039c.1167_1173+17delp.?Pathogenic2022-02-02 00:00:00Small deletionSplice donorPHEX<3322537251abnormal bone development, bowed or bent leg, short stature1167Exon 10, Intron 10
PHEX_1040c.1168delp.Ser390Glnfs*3Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3-0Lower limb deformities, Short Stature1168Exon 10
PHEX_0355c.1173+1delSplice donorPathogenic4/28/2021SplicingSplice donorPHEX< 3348067941-1173Intron 10
PHEX_0356c.1173+1G>Ap.?Pathogenic4/28/2021SplicingSplice donorPHEX3-524926462, 23079138, 21902834, 34141703, 348067945Gait Abnormalities, Lower Limb Deformities1173Intron 10
PHEX_0354c.1173+1G>Cp.?-4/28/2021SplicingSplice donorPHEX< 3250866711-1173Intron 10
PHEX_0359c.1173+1G>Tp.?Pathogenic4/28/2021SplicingSplice donorPHEX3-522101457, 29460029, 348067943Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature1173Intron 10
PHEX_0357c.1173+2T>CSplice donorPathogenic4/28/2021SplicingSplice donorPHEX11-20348067941Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities, Lower Limb Deformities1173Intron 10
PHEX_0358c.1173+5G>AIntronicLikely Pathogenic2022-02-02 00:00:00SplicingIntronicPHEX< 3348067941Gait Abnormalities, Lower Limb Deformities1173Intron 10
PHEX_1041c.1174-937T>Gp.?Benign2022-02-02 00:00:00SplicingIntronicPHEX<3216449431-1174Intron 10
PHEX_1042c.1174-3C>Gp.?Likely Pathogenic2022-02-02 00:00:00SplicingIntronicPHEX<3341417031-1174Intron 10
PHEX_0853c.1174-2A>GSplice acceptorPathogenic4/28/2021SplicingSplice acceptorPHEX3-534141703, 348067942-1174Intron 10
PHEX_0362c.1174-1G>Ap.?Pathogenic4/28/2021SplicingSplice acceptorPHEX6-1024836714, 18162710, 28506344, 30599486, 27840894, 34141703, 348067947Short Stature, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities, genu varum, stunted growth, short stature1174Intron 10
PHEX_0360c.1174-?_1302+?delDeletion (Exon 11)Pathogenic4/28/2021CNVDeletionPHEX< 3348067941-1174Intron 10
PHEX_0363c.1180C>Tp.Gln394*Pathogenic4/28/2021SNVNonsensePHEX3-519513579, 15057978, 348067943Lower Limb Deformities1180Exon 11
PHEX_0364c.1183G>Cp.Gly395Arg-4/28/2021SNVMissensePHEX< 324836714, 348067942Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities1183Exon 11
PHEX_0365c.1185delp.Thr396Profs*12Pathogenic4/28/2021Small deletionFrameshiftPHEX3-515057978, 19219621, 348067943Other Musculoskeletal Abnormalities, Lower Limb Deformities1185Exon 11
PHEX_0366c.1204C>Tp.Gln402*Pathogenic4/28/2021SNVNonsensePHEX< 333639975, 348067942abnormal bone development1204Exon 11
PHEX_0368c.1206A>Gp.Gln402Gln-4/28/2021SNVMissensePHEX< 319219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities1206Exon 11
PHEX_0367c.1206delp.Gln402Hisfs*6-4/28/2021Small deletionFrameshiftPHEX< 329505567, 348067942Short Stature, Lower Limb Deformities1206Exon 11
PHEX_0369c.1208G>Ap.Trp403*Pathogenic4/28/2021SNVNonsensePHEX6-1026377240, 19219621, 33666701, 348067944Other Musculoskeletal Abnormalities, Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities1208Exon 11
PHEX_0370c.1209G>Ap.Trp403*Pathogenic4/28/2021SNVNonsensePHEX11-2030920082, 15057978, 9097956, 16636593, 348067945Short Stature, Bone and/or Joint Pain and/or Joint Stiffness, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries1209Exon 11
PHEX_0371c.1210delp.Asp404Thrfs*4Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941Gait Abnormalities, Lower Limb Deformities1210Exon 11
PHEX_0372c.1211_1215delinsTTTACATp.Asp404Valfs*5-4/28/2021Small insertionFrameshiftPHEX< 326107949, 348067942-1211Exon 11
PHEX_1132c.?p.Cys406Ser-2022-02-02 00:00:00MissensePHEX<3250421541-1216Exon 11
PHEX_0376c.1216T>Ap.Cys406Ser-4/28/2021SNVMissensePHEX< 330682568, 247560412-1216Exon 11
PHEX_0373c.1216T>Cp.Cys406ArgPathogenic4/28/2021SNVMissensePHEX< 329505567, 24756041, 348067943Short Stature, Bone Density Abnormalities, Lower Limb Deformities1216Exon 11
PHEX_0374c.1217G>Ap.Cys406Tyr-4/28/2021SNVMissensePHEX< 324926462, 23079138, 29505567, 348067944Lower Limb Deformities1217Exon 11
PHEX_0375c.1217G>Tp.Cys406Phe-4/28/2021SNVMissensePHEX< 329460029, 29505567, 348067943Short Stature, Lower Limb Deformities1217Exon 11
PHEX_0854c.1218T>Ap.Cys406*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941Reduced Serum Phosphate, Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures1218Exon 11
PHEX_1043c.1220T>Gp.Val407GlyUncertain Significance2022-02-02 00:00:00SNVMissensePHEX<3-0Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short Stature1220Exon 11
PHEX_0377c.1224delp.Phe409Leufs*15Pathogenic4/28/2021Small deletionFrameshiftPHEX< 334141703, 348067942Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries1224Exon 11
PHEX_1044c.1234delp.Ser412Valfs*12Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX6-1034141703, 278408942abnormal bone development, pectus carinatum, bowed or bent leg, short stature1234Exon 11
PHEX_0378c.1237G>Cp.Ala413ProLikely Pathogenic2022-02-02 00:00:00SNVMissensePHEX6-10348067941-1237Exon 11
PHEX_0379c.1251delp.Val418Leufs*6Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-1251Exon 11
PHEX_0380c.1263delp.Met421Ilefs*3-4/28/2021Small deletionFrameshiftPHEX< 319219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities1263Exon 11
PHEX_0381c.1269delp.Asp424Metfs*11-4/28/2021Small deletionFrameshiftPHEX< 310439971, 16636593, 348067943Other Musculoskeletal Abnormalities1269Exon 11
PHEX_0382c.1270_1271delp.Asp424Cysfs*7-4/28/2021Small deletionFrameshiftPHEX< 315057978, 348067942-1270Exon 11
PHEX_1133c.?p.Tyr426*Pathogenic2022-02-02 00:00:00NonsensePHEX3-5115028291bowed or bent legs, dental abscesses1278Exon 11
PHEX_0383c.1278C>Gp.Tyr426*-4/28/2021SNVNonsensePHEX6-1016636593, 348067942-1278Exon 11
PHEX_0384c.1282C>Tp.Gln428*Pathogenic4/28/2021SNVNonsensePHEX< 316636593, 15057978, 14564066, 348067944Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature1282Exon 11
PHEX_0385c.1294A>Tp.Lys432*-4/28/2021SNVNonsensePHEX6-1023813354, 22713460, 29901142, 24857004, 27840894, 34141703, 348067947Short Stature, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Bone Density Abnormalities, abnormal bone development, genu varum, difficulty walking, stunted growth, bowed or bent leg, short stature1294Exon 11
PHEX_0394c.1301-?_1899+?delDeletion (Exons 12-18)Uncertain Significance4/28/2021CNVDeletionPHEX< 3348067941-1301Exons 12-18
PHEX_0386c.1302+1G>Ap.?Pathogenic4/28/2021SplicingSplice donorPHEX6-1026377240, 32329911, 9097956, 32253725, 348067945muscle weakness, bowed or bent legs, Gait abnormalities, Lower limb deformities, Short Stature, abnormal bone development, pectus carinatum, short stature1302Intron 11
PHEX_0388c.1302+1G>CSplice donorPathogenic4/28/2021SplicingSplice donorPHEX< 3348067941-1302Intron 11
PHEX_0387c.1302+1G>Tp.?Likely Pathogenic4/28/2021SplicingSplice donorPHEX< 39097956, 16636593, 348067943-1302Intron 11
PHEX_0855c.1302+4_1302+10delIntronicLikely Pathogenic2022-02-02 00:00:00Small deletionSplice donorPHEX3-5348067941Lower limb deformities1302Intron 11
PHEX_1045c.1303-3589C>Gp.?Uncertain Significance2022-02-02 00:00:00SplicingIntronicPHEX<3161836561-1303Intron 11
PHEX_1046c.1303-1G>Cp.?Pathogenic2022-02-02 00:00:00SplicingSplice acceptorPHEX<3341417031-1303Intron 11
PHEX_0396c.1303-1G>Tp.?Pathogenic4/28/2021SplicingSplice acceptorPHEX3-526051471, 348067942Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities1303Intron 11
PHEX_0390c.?Intron 12 - Exon 13Likely Pathogenic4/28/2021CNVUnknownPHEX< 3348067941-1303Intron 12 - Exon 13
PHEX_1134c.?Partial deletion (Exon 12)Pathogenic2022-02-02 00:00:00PHEX<3-0Reduced_TmP/GFR_(1303Exon 12
PHEX_0392c.1303-?_1404+?delDeletion (Exon 12)Pathogenic4/28/2021CNVDeletionPHEX6-1016636593, 32329911, 9199930, 32253725, 33666701, 34141703, 348067947Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Lower limb deformities, abnormal bone development, pectus carinatum, bowed or bent leg, short stature1303Intron 11
PHEX_0393c.1303-?_1404+?dupGain (Exon 12)Pathogenic2022-02-02 00:00:00CNVDuplicationPHEX3-5348067941Lower limb deformities, Reduced Serum Phosphate1303Intron 11
PHEX_0395c.1303-?_1482+?dupGain (Exons 12-13)Uncertain Significance4/28/2021CNVDuplicationPHEX< 3348067941Lower Limb Deformities1303Intron 11
PHEX_0389c.1303-?_2070+?dupGain (Exons 12-20)Uncertain Significance4/28/2021CNVDuplicationPHEX< 3348067941-1303Intron 11
PHEX_1124c.1303-?_1645+?dupGain (Exons 12-15)Likely Pathogenic2022-02-02 00:00:00PHEX<3-0Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature1303Exon 12 - 15
PHEX_0398c.1304T>Gp.Met435ArgUncertain Significance4/28/2021SplicingIntronicPHEX3-5348067941Lower Limb Deformities, Gait Abnormalities, Gait abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities1304Exon 12
PHEX_0399c.1305_1306insCp.Glu436Argfs*5-4/28/2021Small insertionFrameshiftPHEX< 321050253, 348067942-1305Exon 12
PHEX_0401c.1309dupp.Glu437Glyfs*4Pathogenic4/28/2021Small duplicationFrameshiftPHEX3-5348067941Lower limb deformities, Reduced Serum Phosphate1309Exon 12
PHEX_0402c.1309G>Tp.Glu437*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities1309Exon 12
PHEX_0404c.1313delp.Leu438Trpfs*13Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-1313Exon 12
PHEX_0403c.1313T>Cp.Leu438SerLikely Pathogenic4/28/2021SNVMissensePHEX3-5348067941-1313Exon 12
PHEX_0405c.1313T>Gp.Leu438Trp-4/28/2021SNVMissensePHEX< 322695891, 348067942-1313Exon 12
PHEX_0406c.1319_1321delp.Glu440del-4/28/2021Small deletionDeletionPHEX< 319219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities1319Exon 12
PHEX_0407c.1324G>Tp.Val442Phe-4/28/2021SNVMissensePHEX3-533639975, 15057978, 348067943radiological signs of rickets, short stature, abnormal bone development1324Exon 12
PHEX_0409c.1328G>Ap.Arg443HisUncertain Significance4/28/2021SNVMissensePHEX< 3348067941-1328Exon 12
PHEX_0408c.1328G>Cp.Arg443ProUncertain Significance4/28/2021SNVMissensePHEX< 3348067941-1328Exon 12
PHEX_0410c.1331G>Ap.Trp444*-4/28/2021SNVNonsensePHEX< 332329911, 22695891, 348067943dental caries1331Exon 12
PHEX_0412c.1332_1333insAACp.Trp444_Ala445insAsn-4/28/2021Small insertionInsertionPHEX< 311004247, 16636593, 348067943-1332Exon 12
PHEX_0411c.1332G>Ap.Trp444*Pathogenic4/28/2021SNVNonsensePHEX6-1024836714, 29901142, 34141703, 348067944Bone and/or Joint Pain and/or Joint Stiffness, short stature, Lower Limb Deformities, Gait Abnormalities, Gait abnormalities, Lower limb deformities, teeth falling out1332Exon 12
PHEX_1047c.1333delp.Ala445Profs*6Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3322537251abnormal bone development, bowed or bent leg1333Exon 12
PHEX_0856c.1334C>Ap.Ala445AspLikely Pathogenic4/28/2021SNVMissensePHEX< 3348067941Fractures/pseudo-fractures, Lower limb deformities1334Exon 12
PHEX_0413c.1335delp.Phe446Leufs*5Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-1335Exon 12
PHEX_0857c.1337delinsAATAAp.Phe446*-4/28/2021Small insertionNonsensePHEX< 329707405, 348067942-1337Exon 12
PHEX_0414c.1349T>Cp.Leu450Pro-4/28/2021SNVMissensePHEX< 321050253, 348067942-1349Exon 12
PHEX_0415c.1351G>Tp.Glu451*-4/28/2021SNVNonsensePHEX< 310439971, 23079138, 16636593, 24926462, 348067945Other Musculoskeletal Abnormalities1351Exon 12
PHEX_0416c.1357_1360delp.Glu453Metfs*29-4/28/2021Small deletionFrameshiftPHEX< 329460029, 348067942-1357Exon 12
PHEX_0417c.1363G>Tp.Glu455*Pathogenic4/28/2021SNVNonsensePHEX6-1010439971, 23079138, 16636593, 24926462, 22261628, 18162710, 30599486, 348067948Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities1363Exon 12
PHEX_0418c.1366T>Ap.Trp456Arg-4/28/2021SNVMissensePHEX< 329460029, 348067942-1366Exon 12
PHEX_1048c.1366T>Gp.Trp456GlyLikely Pathogenic2022-02-02 00:00:00SNVMissensePHEX<3336667011-1366Exon 12
PHEX_0422c.?p.Trp456Cys-4/28/2021SNVMissensePHEX6-1010439971, 22101457, 12001226, 348067944short stature, abnormal bone development1368Exon 12
PHEX_0419c.1367G>Ap.Trp456*Pathogenic4/28/2021SNVNonsensePHEX3-59199930, 16636593, 30607568, 33639975, 32253725, 348067946abnormal bone development, pectus carinatum, bowed or bent leg, short stature1367Exon 12
PHEX_0420c.1368G>Ap.Trp456*Pathogenic4/28/2021SNVNonsensePHEX3-522577109, 348067942Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities1368Exon 12
PHEX_0421c.1368G>Cp.Trp456CysPathogenic4/28/2021SNVMissensePHEX3-529460029, 348067942-1368Exon 12
PHEX_0858c.1382C>Ap.Thr461LysLikely Pathogenic4/28/2021SNVMissensePHEX< 3348067941Lower limb deformities, Tooth abscesses and/or excessive dental caries1382Exon 12
PHEX_0423c.1382C>Gp.Thr461ArgLikely Pathogenic2022-02-02 00:00:00SNVMissensePHEX3-5348067941Lower Limb Deformities1382Exon 12
PHEX_0424c.1387delp.Arg463Glyfs*20Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941Gait Abnormalities, Lower Limb Deformities1387Exon 12
PHEX_0859c.1387dupp.Arg463Lysfs*23Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941-1387Exon 12
PHEX_0425c.1394C>Ap.Ala465AspUncertain Significance4/28/2021SNVMissensePHEX< 3348067941-1394Exon 12
PHEX_0860c.1398dupp.Glu467Argfs*19Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate1398Exon 12
PHEX_0426c.1399G>Tp.Glu467*Pathogenic4/28/2021SNVNonsensePHEX< 316636593, 34141703, 348067943Gait Abnormalities, Lower Limb Deformities1399Exon 12
PHEX_0427c.1400_1404delp.Glu467Glyfs*17Pathogenic4/28/2021Small deletionFrameshiftPHEX< 316636593, 15057978, 348067943-1400Exon 12
PHEX_0428c.1402A>Gp.Lys468GluUncertain Significance4/28/2021SplicingMissensePHEX< 332329911, 348067942bone pain, bowed or bent legs1402Exon 12
PHEX_0429c.1403A>Cp.Lys468ThrPathogenic2022-02-02 00:00:00SplicingIntronicPHEX< 3348067941Reduced Serum Phosphate1403Exon 12
PHEX_0430c.1403delp.Lys468Argfs*15-4/28/2021Small deletionFrameshiftPHEX< 316636593, 19219621, 348067943Other Musculoskeletal Abnormalities, Lower Limb Deformities1403Exon 12
PHEX_0432c.1404G>Cp.Lys468AsnLikely Pathogenic4/28/2021SplicingMissensePHEX3-533358363, 33639975, 348067943Lower Limb Deformities1404Exon 12
PHEX_1110c.1404G>Tp.Lys468AsnLikely Pathogenic2022-02-02 00:00:00SNVMissensePHEX<3322537251abnormal bone development, bowed or bent leg, short stature1404Exon 12
PHEX_0433c.1404+1delp.?-4/28/2021Small deletionSplice donorPHEX< 329505567, 348067942Short Stature, Lower Limb Deformities1404Intron 12
PHEX_0431c.1404+2_1404+6delp.?Pathogenic4/28/2021SplicingSplice donorPHEX< 322695891, 348067942Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries1404Intron 12
PHEX_1049c.1404+9251G>Ap.?Benign2022-02-02 00:00:00SplicingIntronicPHEX<3213263111-1404Intron 12
PHEX_1050c.1405-6860C>Tp.?Benign2022-02-02 00:00:00SplicingIntronicPHEX<3200189181-1405Intron 12
PHEX_0863-Partial Deletion(Exon 13)Likely Pathogenic4/28/2021CNVDeletionPHEX< 3348067941Gait abnormalities, Lower limb deformities, Tooth abscesses and/or excessive dental caries1405Exon 13
PHEX_1135Complex Rearrangement/Intron 12 - Exon 13Intron 12 - Exon 13Likely Pathogenic2022-02-02 00:00:00PHEX<3-0Short Stature1405Intron 12 - Exon 13
PHEX_1136c.?Partial deletion (Exon 13)Likely Pathogenic2022-02-02 00:00:00PHEX<3-0Gait abnormalities, Muscle pain and/or weakness and/or fatigue, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short Stature1405Exon 13
PHEX_0862c.1405_?delp.Ala469_?del-4/28/2021Small deletionDeletionPHEX< 333639975, 348067942-1405Exon 13
PHEX_0861c.1405-?_1482+?delDeletion (Exon 13)Likely Pathogenic4/28/2021CNVDeletionPHEX< 3348067941Gait abnormalities, Lower limb deformities, Tooth abscesses and/or excessive dental caries1405Intron 12
PHEX_0439c.1406_1488del--4/28/2021Small deletionFrameshiftPHEX< 316636593, 348067942-1406Exon 13
PHEX_0440c.1405-?_1645+?delDeletion (Exons 13-15)-4/28/2021CNVDeletionPHEX< 324926462, 23079138, 21902834, 348067944-1405Exon 13 - 15
PHEX_0437c.1405-?_1645+?dupGain (Exons 13-15)Pathogenic2022-02-02 00:00:00CNVDuplicationPHEX30+348067941Fractures/Pseudo-Fractures, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities1405Intron 12
PHEX_0434c.1405-?_2070+?dupGain (Exons 13-20)Likely Pathogenic2022-02-02 00:00:00CNVDuplicationPHEX3-5348067941Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Fractures/Pseudo-Fractures1405Intron 12
PHEX_0436c.1405-?_*3357+?delDeletion (Exons 13-22)Pathogenic4/28/2021CNVDeletionPHEX6-1024926462, 21902834, 23079138, 348067944Gait abnormalities, Muscle pain and/or weakness and/or fatigue, Reduced_TmP/GFR_(1405Intron 12
PHEX_1051c.1406C>Ap.Ala469GluLikely Pathogenic2022-02-02 00:00:00SNVMissensePHEX3-5336667011-1406Exon 13
PHEX_0442c.1412_1417delp.Ala471_Leu473delinsValUncertain Significance4/28/2021Small deletionDeletionPHEX< 3348067941Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities1412Exon 13
PHEX_1052c.1415T>Ap.Val472AspLikely Pathogenic2022-02-02 00:00:00SNVMissensePHEX<3341417031-1415Exon 13
PHEX_1053c.1426G>Ap.Val476IleUncertain Significance2022-02-02 00:00:00SNVMissensePHEX<3-0Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Fractures/pseudo-fractures1426Exon 13
PHEX_0443c.1434T>Ap.Tyr478*Pathogenic4/28/2021SNVNonsensePHEX3-516636593, 9097956, 19219621, 348067944Other Musculoskeletal Abnormalities, Lower Limb Deformities1434Exon 13
PHEX_0864c.1446_1452delp.Ile482Metfs*30Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries1446Exon 13
PHEX_1054c.1461delp.His487Glnfs*27Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<334141703, 337962552short stature, pain, bowed or bent leg, dental abscesses1461Exon 13
PHEX_0444c.1471delp.Asp491Thrfs*23-4/28/2021Small deletionFrameshiftPHEX< 327884786, 19219621, 348067943bowed or bent legs, Other Musculoskeletal Abnormalities, Lower Limb Deformities1471Exon 13
PHEX_0445c.1474delp.Leu492Serfs*22-4/28/2021Small deletionFrameshiftPHEX< 329460029, 348067942-1474Exon 13
PHEX_0453c.1482+1G>ASplice donorPathogenic4/28/2021SplicingSplice donorPHEX3-5348067941Gait Abnormalities, Lower Limb Deformities1482Intron 13
PHEX_0451c.1482+1G>Cp.?Pathogenic4/28/2021SplicingSplice donorPHEX3-59768674, 21050253, 24926462, 16636593, 31102713, 34141703, 348067947Lower Limb Deformities1482Intron 13
PHEX_0447c.1482+1G>Tp.?-4/28/2021SplicingSplice donorPHEX3-523079138, 11502829, 348067943Lower Limb Deformities1482Intron 13
PHEX_0449c.1482+2T>GSplice donorPathogenic4/28/2021SplicingSplice donorPHEX< 3348067941-1482Intron 13
PHEX_0448c.1482+3_1482+4delinsTp.?-4/28/2021Deletion/InsertionIntronicPHEX< 319219621, 348067942-1482Intron 13
PHEX_0450c.1482+3A>CIntronicPathogenic2022-02-02 00:00:00SplicingIntronicPHEX6-10348067941Lower Limb Deformities, Gait Abnormalities, Fractures/Pseudo-Fractures, Reduced Serum Phosphate, Tooth Abscesses and/or Excessive Dental Caries1482Intron 13
PHEX_0452c.1482+4delp.?-4/28/2021SplicingIntronicPHEX3-524926462, 33639975, 21902834, 348067944Short Stature, Other Musculoskeletal Abnormalities1482Intron 13
PHEX_0446c.1482+5G>Cp.?Pathogenic4/28/2021SplicingIntronicPHEX3-531102713, 16636593, 29460029, 34275936, 348067945Fractures/Pseudo-Fractures, Lower Limb Deformities, gait disturbance, abnormal bone development, bowed or bent leg, cupping and fraying of metaphyses1482Intron 13
PHEX_1055c.1483-1012C>Tp.?Benign2022-02-02 00:00:00SplicingIntronicPHEX<3289002921-1483Intron 13
PHEX_1056c.1483-804T>Ap.?Pathogenic2022-02-02 00:00:00SplicingIntronicPHEX<3339539921ossified posterior longitudinal ligament, ossified anterior longitudinal ligament, bowed or bent legs, short stature, deformities of the long bones, spinal stenosis1483Intron 13
PHEX_0458c.1483-2A>Gp.?-4/28/2021SplicingSplice acceptorPHEX< 324926462, 23079138, 25031893, 348067944Lower Limb Deformities1483Intron 13
PHEX_0454c.1483-1G>Ap.?Pathogenic4/28/2021SplicingSplice acceptorPHEX6-1022577109, 33295632, 348067943bowed or bent legs, lumbar hyperlordosis, knock knee, Lower Limb Deformities, Gait Abnormalities1483Intron 13
PHEX_0457c.1483-1G>Cp.?Pathogenic4/28/2021SplicingSplice acceptorPHEX11-2031567381, 27840894, 34218635, 34141703, 348067945Short Stature, genu varum, Lower limb deformities, Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Bone Density Abnormalities, stunted growth1483Intron 13
PHEX_0455c.1483-?_1586+?delDeletion (Exon 14)Pathogenic4/28/2021CNVDeletionPHEX< 333295632, 348067942-1483Exon 14
PHEX_0456c.1483-?_1645+?delDeletion (Exons 14-15)Pathogenic4/28/2021CNVDeletionPHEX< 3348067941-1483Intron 13
PHEX_0460c.?p.Lys496*-2022-02-02 00:00:00SNVNonsensePHEX3-523700148, 29381780, 22573557, 22006791, 28005411, 348067946-1488Exon 14
PHEX_0461c.1491_1509delp.Phe497Leufs*11-4/28/2021Small deletionFrameshiftPHEX< 326377240, 348067942-1491Exon 14
PHEX_0462c.1503_1504insGACTp.Tyr502Aspfs*17-4/28/2021Small insertionFrameshiftPHEX< 324926462, 23079138, 16636593, 10439971, 348067945abnormal bone development1503Exon 14
PHEX_1057c.1506C>Gp.Tyr502*Pathogenic2022-02-02 00:00:00SNVNonsensePHEX<3336667011-1506Exon 14
PHEX_0463c.1519C>Gp.Leu507ValUncertain Significance4/28/2021SNVMissensePHEX< 3348067941Fractures/Pseudo-Fractures, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities1519Exon 14
PHEX_0464c.1520T>Cp.Leu507ProUncertain Significance4/28/2021SNVMissensePHEX3-5348067941-1520Exon 14
PHEX_0465c.1522C>Tp.Gln508*Pathogenic4/28/2021SNVNonsensePHEX3-521050253, 19219621, 22695891, 348067944Other Musculoskeletal Abnormalities, Lower Limb Deformities1522Exon 14
PHEX_0466c.1523_1537delp.Gln508_Tyr512del-4/28/2021Small deletionDeletionPHEX< 315057978, 348067942-1523Exon 14
PHEX_1111c.1525delAp.Thr509Leufs*5Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX3-5-0-1525Exon 14
PHEX_0468c.1529G>Cp.Arg510Pro-4/28/2021SNVMissensePHEX< 323079138, 15057978, 16636593, 24926462, 21902834, 348067946Short Stature, Other Musculoskeletal Abnormalities1529Exon 14
PHEX_0469c.1531A>Tp.Lys511*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941-1531Exon 14
PHEX_0467c.1532delp.Lys511Serfs*3Pathogenic4/28/2021Small deletionFrameshiftPHEX11-2018625346, 11502829, 16636593, 348067944Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities1532Exon 14
PHEX_0471c.1535delp.Tyr512Phefs*2Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941Lower Limb Deformities1535Exon 14
PHEX_0865c.1540G>Cp.Ala514Pro-4/28/2021SNVMissensePHEX< 332329911, 348067942-1540Exon 14
PHEX_0867c.1543_1544delp.Gln515Valfs*2Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX3-533639975, 348067942-1543Exon 14
PHEX_0472c.1543C>Tp.Gln515*Pathogenic4/28/2021SNVNonsensePHEX6-1026377240, 23079138, 24926462, 21902834, 31927522, 348067946Reduced_TmP/GFR_(1543Exon 14
PHEX_0866c.1543delp.Gln515SerfsTer7-4/28/2021Small deletionFrameshiftPHEX< 332329911, 348067942-1543Exon 14
PHEX_0473c.1553delp.Phe518Serfs*4-4/28/2021Small deletionFrameshiftPHEX3-525060345, 348067942Short Stature, Hearing Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries1553Exon 14
PHEX_0474c.1560delp.Trp520Cysfs*2-4/28/2021Small deletionFrameshiftPHEX< 323079138, 16636593, 24926462, 9199930, 348067945-1560Exon 14
PHEX_0868c.1566_1570delp.Arg522Serfs*58-4/28/2021Small deletionFrameshiftPHEX< 332619592, 348067942-1566Exon 14
PHEX_0475c.1572dupp.Val525Argfs*57-4/28/2021Small insertionFrameshiftPHEX< 316636593, 9199930, 348067943-1572Exon 14
PHEX_0484c.1586_1586+1delp.?Pathogenic4/28/2021Small deletionSplice donorPHEX11-2019429806, 10439971, 24229582, 19219621, 27840894, 34141703, 34806794, 23079138, 30599486, 2492646210stunted growth, pectus carinatum, abnormal bone development, genu varum1586Exon 14 - 15, Intron 14
PHEX_1058c.1585_1586delp.Glu529Valfs*52Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3-0Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short Stature1585Exon 14
PHEX_0479c.1586+1G>Ap.?Pathogenic4/28/2021SplicingSplice donorPHEX3-528506344, 26051471, 31102713, 29505567, 348067945Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Short Stature1586Intron 14
PHEX_0481c.1586+1G>CSplice donorPathogenic4/28/2021SplicingSplice donorPHEX< 3348067941-1586Intron 14
PHEX_0477c.1586+1G>TSplice donorPathogenic4/28/2021SplicingSplice donorPHEX< 332253725, 348067942abnormal bone development, pectus carinatum, bowed or bent leg, short stature1586Intron 14
PHEX_0483c.1586+2T>ASplice donorPathogenic4/28/2021SplicingSplice donorPHEX< 3348067941-1586Intron 14
PHEX_0482c.1586+2T>Gp.?-4/28/2021SplicingSplice donorPHEX< 329505567, 348067942Short Stature, Lower Limb Deformities1586Intron 14
PHEX_0480c.1586+3_1586+6delp.Glu529Valfs*52Pathogenic4/28/2021Small deletionIntronic, FrameshiftPHEX11-2010439971, 32329911, 11502829, 9106524, 22695891, 24926462, 19219621, 18625346, 348067949Other Musculoskeletal Abnormalities, Reduced Serum Phosphate, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Gait abnormalities, Lower limb deformities, 1586Intron 14, Exon 14 - 15
PHEX_0870c.1586+3G>TIntronicLikely Pathogenic2022-02-02 00:00:00SplicingSplice donorPHEX< 334141703, 348067942Reduced Serum Phosphate1586Intron 14
PHEX_0869c.1586+5G>AIntronicPathogenic4/28/2021SplicingIntronicPHEX< 3348067941Gait abnormalities, Lower limb deformities1586Intron 14
PHEX_0871c.1586+6T>AIntronic-4/28/2021SplicingIntronicPHEX3-521885902, 348067942-1586Intron 14
PHEX_0478c.1586+6T>Cp.?-4/28/2021SplicingIntronicPHEX< 318625346, 31102713, 20157195, 348067944-1586Intron 14
PHEX_1059c.1587-46C>Tp.?Uncertain Significance2022-02-02 00:00:00SplicingIntronicPHEX<3248570041-1587Intron 14
PHEX_0488c.1587-1G>ASplice acceptorPathogenic4/28/2021SplicingSplice acceptorPHEX6-10348067941Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Tooth abscesses and/or excessive dental caries1587Intron 14
PHEX_0489c.1587-1G>Cp.?-4/28/2021SplicingSplice acceptorPHEX6-1028506344, 31903094, 22695891, 348067944-1587Intron 14
PHEX_0872c.1589G>Ap.Trp530*Pathogenic4/28/2021SNVNonsensePHEX< 334141703, 348067942-1589Exon 15
PHEX_0487-Exon 15Likely Pathogenic4/28/2021CNVDeletionPHEX< 3348067941-1587Exon 15
PHEX_1137c.?Partial deletion (Exon 15)Likely Pathogenic2022-02-02 00:00:00PHEX<3-0-1587Exon 15
PHEX_0486c.1587-?_1645+?delDeletion (Exon 15)Pathogenic4/28/2021CNVDeletionPHEX3-532253725, 348067942Lower Limb Deformities, abnormal bone development, pectus carinatum, bowed or bent leg, short stature1587Intron 14
PHEX_0485c.1587-?_2070+?delDeletion (Exons 15-20)Pathogenic4/28/2021CNVDeletionPHEX3-534141703, 348067942-1587Intron 14
PHEX_1125c.1587-?_*3357+?delDeletion (Exons 15-22)2022-02-02 00:00:00DeletionPHEX<3341417031-1587Exon 15 - 22
PHEX_1060c.1590delp.Trp530Cysfs*40Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3322537251abnormal bone development, bowed or bent leg1590Exon 15
PHEX_0491c.1590G>Ap.Trp530*Pathogenic4/28/2021SNVNonsensePHEX< 39768674, 16636593, 348067943-1590Exon 15
PHEX_0490c.1590G>Cp.Trp530Cys-4/28/2021SNVMissensePHEX< 310439971, 16636593, 348067943Other Musculoskeletal Abnormalities1590Exon 15
PHEX_0492c.1593dupp.Thr532Tyrfs*50Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941-1593Exon 15
PHEX_0494c.1600C>Ap.Pro534ThrPathogenic4/28/2021SNVMissensePHEX3-522577109, 28383812, 348067943Lower limb deformities, Reduced Serum Phosphate, Lower Limb Deformities1600Exon 15
PHEX_0493c.1600C>Tp.Pro534Ser-4/28/2021SNVMissensePHEX3-528383812, 29460029, 348067943Lower Limb Deformities1600Exon 15
PHEX_0495c.1601C>Tp.Pro534LeuPathogenic4/28/2021SNVMissensePHEX30+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, 3480679439Other Musculoskeletal Abnormalities, Reduced_TmP/GFR_(1601Exon 15
PHEX_1061c.1604C>Tp.Thr535MetLikely Pathogenic2022-02-02 00:00:00SNVMissensePHEX<3338887111stunted growth, abnormal bone development, flexion contracture1604Exon 15
PHEX_0496c.1605_1607delp.Thr536del-4/28/2021Small deletionDeletionPHEX< 319513579, 348067942Short Stature, Lower Limb Deformities1605Exon 15
PHEX_1062c.1621T>Gp.Tyr541AspLikely Pathogenic2022-02-02 00:00:00SNVMissensePHEX<3-01621Exon 15
PHEX_0498c.1639C>Tp.Gln547*-4/28/2021SNVNonsensePHEX< 324926462, 23079138, 21902834, 348067944Short Stature, Other Musculoskeletal Abnormalities1639Exon 15
PHEX_0873c.1640A>Cp.Gln547ProLikely Pathogenic4/28/2021SNVMissensePHEX< 3348067941Lower limb deformities, Reduced Serum Phosphate1640Exon 15
PHEX_0874c.1643T>Cp.Ile548Thr-4/28/2021SNVMissensePHEX6-1025237965, 348067942-1643Exon 15
PHEX_0505c.1645C>Tp.Arg549*Pathogenic4/28/2021SNVNonsensePHEX30+29460029, 24836714, 23079138, 15057978, 9097956, 29901142, 16636593, 24926462, 25894638, 19219621, 21902834, 26051471, 31102713, 29505567, 34141703, 3480679416Other Musculoskeletal Abnormalities, Short Stature, Fractures/Pseudo-Fractures, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries1645Exon 15 - 16
PHEX_0503c.1645+1G>Ap.?Pathogenic4/28/2021SplicingSplice donorPHEX30+10439971, 23079138, 24857004, 21902834, 22101457, 25086671, 15057978, 32619592, 18625346, 33639975, 32329911, 11502829, 30682568, 22695891, 24926462, 19219621, 33295632, 16636593, 31102713, 24102521, 33666701, 34141703, 3480679423Other Musculoskeletal Abnormalities, Reduced_TmP/GFR_(1645Intron 15
PHEX_0506c.1645+1G>TSplice donorPathogenic4/28/2021SplicingSplice donorPHEX< 3348067941Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short Stature1645Intron 15
PHEX_0497c.1645+2T>CSplice donor-4/28/2021SplicingSplice donorPHEX< 39199930, 348067942-1645Intron 15
PHEX_0500c.1645+2T>GSplice donorPathogenic4/28/2021SplicingSplice donorPHEX< 3348067941Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities1645Intron 15
PHEX_1063c.1645+4A>CIntronicUncertain Significance2022-02-02 00:00:00SplicingSplice donorPHEX<3-01645Intron 15
PHEX_0504c.1645+4A>Gp.?-4/28/2021SplicingIntronicPHEX< 330682568, 348067942-1645Intron 15
PHEX_0501c.1645+5G>Ap.?-4/28/2021SplicingIntronic, FrameshiftPHEX6-1011502829, 16636593, 31102713, 33639975, 19219621, 34141703, 348067947Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities1645Intron 15
PHEX_0502c.1645+6T>Cp.?-4/28/2021SplicingIntronicPHEX< 318625346, 31102713, 348067943-1645Intron 15
PHEX_1064c.1646-1493C>Ap.?Benign2022-02-02 00:00:00SplicingIntronicPHEX<3206723781-1646Intron 15
PHEX_0875c.1646-46T>Cp.?-4/28/2021SplicingIntronicPHEX3-533295632, 348067942bowed or bent legs, short stature, deformation of chest, widening of the distal parts of the forearms1646Intron 15
PHEX_0515c.1646-2A>Gp.?Pathogenic4/28/2021SplicingSplice acceptorPHEX3-516261449, 348067942Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities1646Intron 15
PHEX_0510c.1646-2A>Tp.?-4/28/2021SplicingSplice acceptorPHEX3-528506344, 24836714, 34141703, 348067944Lower Limb Deformities1646Intron 15
PHEX_0519c.1646-1G>CSplice acceptorPathogenic4/28/2021SplicingSplice acceptorPHEX< 3348067941-1646Intron 15
PHEX_0517c.1646_?delp.Arg549_?del-4/28/2021Small deletionDeletionPHEX3-530607568, 33639975, 348067943radiological signs of rickets, abnormal bone development1646Exon 16
PHEX_0521c.1646-?_1768+?delDeletion (Exons 16-17)-4/28/2021Small deletionDeletionPHEX3-59768674, 16636593, 348067943-1646Exon 16 - 17
PHEX_0518c.1646G>Cp.Arg549ProPathogenic4/28/2021SNVMissensePHEX6-1022577109, 25839938, 18625346, 348067944Other Musculoskeletal Abnormalities, Bone and/or Joint Pain and/or Joint Stiffness, Fractures/Pseudo-Fractures, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Short Stature1646Exon 15 - 16
PHEX_1126c.1646-?_1899+?delDeletion (Exons 16-18)2022-02-02 00:00:00DeletionPHEX<3322537251-1646Exon 16 - 18
PHEX_0508c.1646-?_1700+?delDeletion (Exon 16)Pathogenic4/28/2021CNVDeletionPHEX3-529460029, 31474501, 34141703, 348067944-1646Exon 16
PHEX_0507c.1646-?_2070+?delDeletion (Exons 16-20)Pathogenic4/28/2021CNVDeletionPHEX3-5348067941-1646Intron 15
PHEX_0516c.1646-?_2070+?dupGain (Exons 16-20)-4/28/2021CNVDuplicationPHEX< 322695891, 348067942-1646Exon 16 - 20
PHEX_0512c.1646-?_*3357+?delDeletion (Exons 16-22)Pathogenic4/28/2021CNVDeletionPHEX3-524926462, 29460029, 31474501, 22695891, 23079138, 21902834, 34141703, 348067948nephrocalcinosis, hyperparathyroidism, abnormal bone development1646Exon 16 - 22
PHEX_1065c.1650_1652delTCCinsAGGGTTAGGGTTAGGGTTTAGAGTTAGGGTTAGGGTTAGGGTTp.Phe550Leufs*45Likely Pathogenic2022-02-02 00:00:00Deletion/InsertionFrameshiftPHEX<3322537251abnormal bone development, pectus carinatum, bowed or bent leg1650Exon 16
PHEX_0523c.1654G>Ap.Ala552Thr-4/28/2021SNVMissensePHEX< 321902834, 348067942-1654Exon 16
PHEX_0524c.1657G>Tp.Gly553*-4/28/2021SNVNonsensePHEX< 326377240, 348067942-1657Exon 16
PHEX_0525c.1658G>Ap.Gly553Glu-4/28/2021SNVMissensePHEX< 321050253, 32329911, 348067943bowed or bent legs, dental caries1658Exon 16
PHEX_0526c.1660G>Tp.Glu554*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941-1660Exon 16
PHEX_0527c.1664T>Cp.Leu555ProPathogenic4/28/2021SNVMissensePHEX11-209768646, 16636593, 19219621, 348067944Lower Limb Deformities1664Exon 16
PHEX_0528c.1666C>Tp.Gln556*Pathogenic4/28/2021SNVNonsensePHEX3-531658436, 32253725, 348067943abnormal bone development, bowed or bent leg, short stature1666Exon 16
PHEX_0529c.1670delp.Lys557Serfs*13-4/28/2021Small deletionFrameshiftPHEX< 329460029, 348067942-1670Exon 16
PHEX_0530c.1672C>Gp.Pro558Ala-4/28/2021SNVMissensePHEX3-518046499, 23813354, 21293852, 24857004, 348067945-1672Exon 16
PHEX_0532c.1681_1682insAlup.Phe560fsPathogenic4/28/2021Small insertionFrameshiftPHEX3-5348067941-1681Exon 16
PHEX_1066c.1682G>Ap.Trp561*Pathogenic2022-02-02 00:00:00SNVNonsensePHEX<3-01682Exon 16
PHEX_0533c.1683G>Ap.Trp561*-4/28/2021SNVNonsensePHEX< 319219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities1683Exon 16
PHEX_0534c.1684G>Tp.Gly562*-4/28/2021SNVNonsensePHEX< 315057978, 348067942-1684Exon 16
PHEX_0536c.1685delp.Gly562Glufs*8Pathogenic4/28/2021Small deletionFrameshiftPHEX< 318625346, 348067942-1685Exon 16
PHEX_0535c.1685dupp.Thr563Asnfs*19Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941-1685Exon 16
PHEX_0537c.1692delp.Glu564Aspfs*6-4/28/2021Small deletionFrameshiftPHEX6-1031537998, 348067942Short Stature, Lower Limb Deformities1692Exon 16
PHEX_0522c.1694delp.Tyr565Phefs*5-4/28/2021Small deletionFrameshiftPHEX3-524836714, 34141703, 348067943Lower Limb Deformities1694Exon 16
PHEX_0538c.1695T>Ap.Tyr565*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941-1695Exon 16
PHEX_0539c.1699C>Tp.Arg567*Pathogenic4/28/2021SNVNonsensePHEX30+16303832, 32329911, 29460029, 21994957, 21293852, 29901142, 21050253, 30599486, 25894638, 22261628, 18162710, 18625346, 22101457, 24229582, 33639975, 19219621, 24857004, 34141703, 3480679419Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait Abnormalities, Fractures/Pseudo-Fractures, Tooth Abscesses and/or Excessive Dental Caries, abnormal bone development, bowed or bent leg, short stature1699Exons 16-17
PHEX_0541c.1700G>A--4/28/2021SplicingUnknownPHEX< 39097956, 348067942-1700Exon 16
PHEX_0544c.1700G>Cp.Arg567ProPathogenic2022-02-02 00:00:00SNVMissensePHEX< 321994957, 16636593, 348067943Reduced Serum Phosphate1700Exons 16-17
PHEX_0545c.1700+1G>Ap.?Pathogenic4/28/2021SplicingSplice donorPHEX6-1019219621, 348067942Other Musculoskeletal Abnormalities, Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities1700Intron 16
PHEX_0543c.1700+1G>CSplice donorPathogenic4/28/2021SplicingSplice donorPHEX< 3348067941Gait Abnormalities, Lower limb deformities, Lower Limb Deformities1700Intron 16
PHEX_0542c.1700+1G>TSplice donorPathogenic4/28/2021SplicingSplice donorPHEX6-10348067941Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries1700Intron 16
PHEX_0877c.1700+2T>Cp.?-4/28/2021SplicingSplice donorPHEX< 316636593, 9199930, 33666701, 348067944-1700Intron 16
PHEX_0876c.1700+5G>AIntronicLikely Pathogenic2022-02-02 00:00:00SplicingSplice donorPHEX< 3348067941Reduced_TmP/GFR_(1700Intron 16
PHEX_0546c.1701-16T>Ap.?-4/28/2021SplicingIntronicPHEX6-1031102713, 31821448, 9097956, 348067944-1701Intron 16
PHEX_0550c.1701-2A>GSplice acceptorPathogenic4/28/2021SplicingSplice acceptorPHEX3-5348067941-1701Intron 16
PHEX_0553c.1701-2A>TSplice acceptorPathogenic4/28/2021SplicingSplice acceptorPHEX< 3348067941-1701Intron 16
PHEX_0548c.1701-1delSplice acceptorLikely Pathogenic4/28/2021SplicingSplice acceptorPHEX< 3348067941Gait Abnormalities, Lower Limb Deformities1701Intron 16
PHEX_0552c.1701-?_1899+?delDeletion (Exons 17-18)Pathogenic4/28/2021CNVDeletionPHEX< 332329911, 348067942Fractures/pseudo-fractures, Gait abnormalities, Lower limb deformities1701Exons 17-18
PHEX_0547c.1701-?_2070+?delDeletion (Exons 17-20)Pathogenic4/28/2021CNVDeletionPHEX< 323079138, 24926463, 24926462, 21902834, 348067945Lower Limb Deformities, hyperparathyroidism, abnormal bone development1701Exons 17-20
PHEX_0549c.1701-?_*3357+?delDeletion (Exons 17-22)Pathogenic4/28/2021CNVDeletionPHEX< 316636593, 33295633, 32329911, 9199930, 348067945Lower Limb Deformities1701Exons 17-22
PHEX_0554c.1702T>Cp.Ser568ProUncertain Significance4/28/2021SplicingIntronicPHEX< 3348067941Gait Abnormalities, Lower Limb Deformities1702Exon 17
PHEX_0555c.1705_1706delp.Leu569Glufs*12-4/28/2021Small deletionFrameshiftPHEX< 321050253, 348067942-1705Exon 17
PHEX_0878c.1706T>Gp.Leu569Arg-4/28/2021SNVMissensePHEX< 333639975, 348067942-1706Exon 17
PHEX_0879c.1707_1710dupp.Tyr571Glufs*12Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941-1707Exon 17
PHEX_0556c.1708delp.Ser570Valfs*5-4/28/2021Small deletionDeletionPHEX< 3348067941-1708Exon 17
PHEX_0557c.1713T>Gp.Tyr571*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941-1713Exon 17
PHEX_0558c.1714G>Ap.Gly572SerPathogenic4/28/2021SNVMissensePHEX6-1030238432, 32329911, 348067943bowed or bent legs, Lower Limb Deformities, Fractures/Pseudo-Fractures1714Exon 17
PHEX_0559c.1714G>Cp.Gly572ArgUncertain Significance4/28/2021SNVMissensePHEX< 3348067941-1714Exon 17
PHEX_0561c.1715G>Ap.Gly572AspPathogenic4/28/2021SNVMissensePHEX11-2011502829, 23079138, 16055933, 16636593, 24926462, 18162710, 30599486, 348067948Reduced Serum Phosphate, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities1715Exon 17
PHEX_0560c.1715G>Tp.Gly572ValLikely Pathogenic4/28/2021SNVMissensePHEX< 332253725, 348067942abnormal bone development, pectus carinatum, bowed or bent leg1715Exon 17
PHEX_0562c.1718C>Ap.Ala573Asp-4/28/2021SNVMissensePHEX< 310439971, 16636593, 24926462, 23079138, 348067945Other Musculoskeletal Abnormalities1718Exon 17
PHEX_0563c.1721T>Ap.Ile574LysLikely Pathogenic4/28/2021SNVMissensePHEX3-529393334, 348067942Short Stature, Bone Density Abnormalities, Lower Limb Deformities1721Exon 17
PHEX_0880c.1723_1727dupp.Ile577Glufs*2-4/28/2021Small duplicationFrameshiftPHEX< 332329911, 348067942-1723Exon 17
PHEX_0564c.1723G>Ap.Gly575ArgLikely Pathogenic2022-02-02 00:00:00SNVMissensePHEX< 3348067941Reduced Serum Phosphate1723Exon 17
PHEX_0565c.1724G>Ap.Gly575GluPathogenic2022-02-02 00:00:00SNVMissensePHEX< 333049132, 348067942-1724Exon 17
PHEX_0566c.1727_1738delp.Val576_His580delinsAspLikely Pathogenic4/28/2021Small deletionDeletion/InsertionPHEX3-521050253, 348067942-1727Exon 17
PHEX_0567c.1728_1731dupp.Val578Asnfs*5-4/28/2021Small duplicationFrameshiftPHEX< 322695891, 348067942-1728Exon 17
PHEX_0568c.1735G>Ap.Gly579ArgPathogenic4/28/2021SNVMissensePHEX30+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, 2722126128Other Musculoskeletal Abnormalities, Reduced_TmP/GFR_(1735Exon 17
PHEX_0570c.1735G>Cp.Gly579Arg-4/28/2021SNVMissensePHEX< 39199930, 11468271, 24926462, 24684036, 12727977, 20838491, 348067947-1735Exon 17
PHEX_0881c.1735G>Tp.Gly579*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941Fractures/pseudo-fractures, Lower limb deformities1735Exon 17
PHEX_0569c.?p.Gly579Arg-4/28/2021SNVMissensePHEX11-2010439971, 15470265, 23813354, 30682568, 10874297, 9097956, 25894638, 18046499, 12111239, 21604088, 27221261, 3480679412Other Musculoskeletal Abnormalities1737Exon 17
PHEX_0571c.1736G>Tp.Gly579ValLikely Pathogenic4/28/2021SNVMissensePHEX3-510439971, 11502829, 23079138, 16636593, 24926462, 12727977, 348067947Other Musculoskeletal Abnormalities, Lower Limb Deformities1736Exon 17
PHEX_0572c.1738C>Gp.His580AspLikely Pathogenic4/28/2021SNVMissensePHEX< 3348067941Lower Limb Deformities1738Exon 17
PHEX_0573c.1739A>Cp.His580Pro-4/28/2021SNVMissensePHEX< 322101457, 29460029, 348067943-1739Exon 17
PHEX_0574c.1742A>Tp.Glu581Val-4/28/2021SNVMissensePHEX< 311468271, 11311133, 12727977, 348067944-1742Exon 17
PHEX_0882c.1750C>Tp.His584TyrPathogenic2022-02-02 00:00:00SNVMissensePHEX< 3348067941Lower limb deformities, Tooth abscesses and/or excessive dental caries, Reduced Serum Phosphate1750Exon 17
PHEX_0575c.1751A>Cp.His584ProUncertain Significance4/28/2021SNVMissensePHEX3-524836714, 34141703, 348067943Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities1751Exon 17
PHEX_0883c.1753G>Ap.Gly585ArgLikely Pathogenic2022-02-02 00:00:00SNVMissensePHEX< 3348067941Lower limb deformities, Reduced Serum Phosphate1753Exon 17
PHEX_0576c.1757T>Cp.Phe586SerPathogenic2022-02-02 00:00:00SNVMissensePHEX3-518625346, 348067942Lower Limb Deformities1757Exon 17
PHEX_0577c.1765_1768delp.Asn589Valfs*29Pathogenic4/28/2021Small deletionFrameshiftPHEX3-519219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait abnormalities, Lower limb deformities, Tooth abscesses and/or excessive dental caries1765Exon 17
PHEX_1067c.1768G > Ap. G590S2022-02-02 00:00:00SNVMissensePHEX3-5352511241short stature, gene varum, osteoarthritis1768Exon 17
PHEX_0540c.1768+?ins--4/28/2021SplicingUnknownPHEX< 39768674, 348067942-1768Intron 17
PHEX_0579c.1768+1delSplice donorLikely Pathogenic4/28/2021SplicingSplice donorPHEX< 3348067941-1768Intron 17
PHEX_0585c.1768+1G>Ap.?-4/28/2021SplicingSplice donorPHEX3-510439971, 16636593, 28383812, 348067944Lower Limb Deformities1768Intron 17
PHEX_0578c.1768+1G>Cp.?Pathogenic4/28/2021SplicingSplice donorPHEX3-518625346, 16636593, 348067943-1768Intron 17
PHEX_1068c.1768+1G>Tp.?Pathogenic2022-02-02 00:00:00SplicingSplice donorPHEX<3341417031-1768Intron 17
PHEX_0531c.1768+? Poly T--4/28/2021SNVUnknownPHEX< 39768674, 348067942-1768Intron 17
PHEX_0584c.1768+2delSplice donorPathogenic4/28/2021SplicingSplice donorPHEX< 3348067941-1768Intron 17
PHEX_0581c.1768+2dupp.?Pathogenic2022-02-02 00:00:00SplicingSplice donorPHEX< 319219621, 348067942-1768Intron 17
PHEX_1069c.1768+2T>Cp.?Pathogenic2022-02-02 00:00:00SplicingSplice donorPHEX<3322537251abnormal bone development, pectus carinatum, bowed or bent leg, short stature1768Intron 17
PHEX_0586c.1768+2T>Gp.?-4/28/2021SplicingSplice donorPHEX3-524836714, 31102713, 32257293, 33666701, 34141703, 348067946Bone and/or Joint Pain and/or Joint Stiffness, Short Stature, Lower Limb Deformities1768Intron 17
PHEX_0580c.1768+3_1768+4insTp.?-4/28/2021SplicingIntronicPHEX< 315057978, 348067942-1768Intron 17
PHEX_0583c.1768+4_1768+7delIntronicUncertain Significance4/28/2021SplicingIntronicPHEX< 3348067941-1768Intron 17
PHEX_0588c.1768+5G>Ap.?Pathogenic4/28/2021SplicingIntronicPHEX6-1015057978, 24926462, 18162710, 31102713, 23079138, 348067946Gait Abnormalities, Lower limb deformities, Lower Limb Deformities1768Intron 17
PHEX_0587c.1768+177_1768+180dupp.?-4/28/2021SplicingIntronicPHEX< 324926462, 21902834, 348067943Short Stature, Other Musculoskeletal Abnormalities1768Intron 17
PHEX_0885c.1769-10C>Tp.?-4/28/2021SplicingIntronicPHEX< 333295632, 34141703, 34806794, 19219621, 244898845-1769Intron 17
PHEX_1070c.1769-6_1784dupIntronicUncertain Significance2022-02-02 00:00:00Small insertionNonsensePHEX<3-01784Exon 18
PHEX_0884c.1769-2A>GSplice acceptorPathogenic4/28/2021SplicingSplice acceptorPHEX< 3348067941Reduced Serum Phosphate, Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries1769Intron 17
PHEX_0886c.1769-2delp.?-4/28/2021SplicingSplice acceptorPHEX3-532257293, 348067942-1769Intron 17
PHEX_0591c.1769-1G>Ap.Gly590Glufs*28-4/28/2021SplicingSplice acceptor, FrameshiftPHEX< 330599486, 26559751, 348067943Other Musculoskeletal Abnormalities, Short Stature, Lower Limb Deformities, Bone Density Abnormalities1769Intron 17, exons 17-18
PHEX_0589c.1769-1G>Cp.?Pathogenic4/28/2021SplicingSplice acceptorPHEX3-521050253, 31102713, 348067943Gait abnormalities, Lower limb deformities, Short Stature1769Intron 17
PHEX_1138c.?Deletion (Exons 18-20)Pathogenic2022-02-02 00:00:00DeletionPHEX<3-0Gait abnormalities, Lower limb deformities, Short Stature1769Exons 18-20
PHEX_1127c.1769-?_1899+?delDeletion (Exon 18)Pathogenic2022-02-02 00:00:00DeletionPHEX<3-0-1769Intron 17
PHEX_0590c.1769-?_2070+?dupGain (Exons 18-20)Likely Pathogenic4/28/2021CNVDuplicationPHEX< 3348067941-1769Intron 17
PHEX_0592c.1775_1778dupp.Tyr593*-4/28/2021Small duplicationNonsensePHEX< 329460029, 348067942-1775Exon 18
PHEX_0594c.1779_1782dupp.Lys595*Pathogenic4/28/2021Small duplicationNonsensePHEX3-532329911, 19219621, 348067943bowed or bent legs1779Exon 18
PHEX_0593c.1779T>Ap.Tyr593*-4/28/2021SNVNonsensePHEX< 319219621, 32253725, 348067943Other Musculoskeletal Abnormalities, Lower Limb Deformities, abnormal bone development, bowed or bent leg, short stature1779Exon 18
PHEX_0595c.1779T>Gp.Tyr593*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941-1779Exon 18
PHEX_0597c.1783_1784insTGATp.Lys595Metfs*13-4/28/2021Small insertionFrameshiftPHEX< 316636593, 23813354, 9199930, 348067944-1783Exon 18
PHEX_1112c.1783A>Tp.Lys595*Pathogenic2022-02-02 00:00:00SNVNonsensePHEX<3322537251short stature, Chiari malformation, Dolichocephaly1783Exon 18
PHEX_0598c.1787dupp.Asn596Lysfs*11-4/28/2021Small insertionFrameshiftPHEX< 316636593, 348067942-1787Exon 18
PHEX_0599c.1789G>Tp.Gly597*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941-1789Exon 18
PHEX_0600c.1800dupp.Pro601Serfs*6Pathogenic4/28/2021Small duplicationFrameshiftPHEX3-5348067941-1800Exon 18
PHEX_0602c.1802delp.Pro601Leufs*18-4/28/2021Small deletionFrameshiftPHEX< 316636593, 348067942-1802Exon 18
PHEX_0603c.1805G>Ap.Trp602*Pathogenic4/28/2021SNVNonsensePHEX< 325983897, 348067942Short Stature, Fractures/Pseudo-Fractures, Lower Limb Deformities, Kidney Disease, Thyroid, Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries1805Exon 18
PHEX_0606c.1806G>Ap.Trp602*Pathogenic4/28/2021SNVNonsensePHEX6-1019513579, 28383812, 19219621, 34141703, 348067945Short Stature, Other Musculoskeletal Abnormalities, Lower Limb Deformities1806Exon 18
PHEX_0604c.1806delp.Trp602Cysfs*17Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities1806Exon 18
PHEX_0605c.1806dupp.Trp603Valfs*4Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941-1806Exon 18
PHEX_0608c.1809_1816delp.Trp603*-4/28/2021Small deletionNonsensePHEX< 318625346, 16636593, 348067943-1809Exon 18
PHEX_0607c.1809G>Ap.Trp603*Pathogenic4/28/2021SNVNonsensePHEX6-1023813354, 21293852, 18046499, 19513579, 24857004, 348067946Gait abnormalities, Lower limb deformities, Short Stature1809Exon 18
PHEX_0887c.1812delp.Thr605Leufs*14Pathogenic4/28/2021Small deletionFrameshiftPHEX6-10348067941Reduced_TmP/GFR_(1812Exon 18
PHEX_0609c.1818_1821dupp.Glu608Ilefs*6Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941Gait Abnormalities, Lower Limb Deformities1818Exon 18
PHEX_0610c.1825_1828dupp.Lys610Argfs*4-4/28/2021Small insertionFrameshiftPHEX< 332329911, 348067942-1825Exon 18
PHEX_0611c.1825G>Tp.Glu609*-4/28/2021SNVNonsensePHEX< 321902834, 24926462, 23079138, 21293852, 348067945Short Stature, Other Musculoskeletal Abnormalities1825Exon 18
PHEX_0612c.1826_1830delp.Glu609Valfs*2-4/28/2021Small deletionFrameshiftPHEX3-516636593, 24926462, 23079138, 21293852, 24857004, 348067946Tooth Abscesses and/or Excessive Dental Caries, Short Stature, Lower Limb Deformities1826Exon 18
PHEX_0613c.1828_1829dupp.Phe611Serfs*9Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941-1828Exon 18
PHEX_0614c.1828_1832dupp.Phe611Leufs*10Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941Reduced_TmP/GFR_(1828Exon 18
PHEX_0615c.1830delp.Lys610Asnfs*9-4/28/2021Small deletionFrameshiftPHEX< 322101457, 29460029, 348067943-1830Exon 18
PHEX_0616c.1832_1833delp.Phe611*-4/28/2021Small deletionNonsensePHEX< 39199930, 16636593, 348067943-1832Exon 18
PHEX_0617c.1843delp.Thr615Glnfs*4Pathogenic4/28/2021Small deletionFrameshiftPHEX3-523813354, 21293852, 24857004, 348067944Lower limb deformities1843Exon 18
PHEX_0618c.1843dupp.Thr615Asnfs*6Pathogenic4/28/2021Small insertionFrameshiftPHEX6-1019219621, 27840894, 34141703, 348067944short stature, teeth falling out, deformities of the long bones, difficulty walking1843Exon 18
PHEX_0889c.1844_1845delp.Thr615Lysfs*5-4/28/2021Small deletionFrameshiftPHEX< 332329911, 348067942-1844Exon 18
PHEX_1071c.1844_1845dupp.Lys616Glnfs*4Pathogenic2022-02-02 00:00:00Small insertionFrameshiftPHEX<3304069281abnormal dental development, bowed or bent legs, stunted growth, abnormal bone development1845Exon 18
PHEX_0620c.1844_1847dupp.Lys616Asnfs*6Pathogenic4/28/2021Small insertionFrameshiftPHEX< 321050253, 32253725, 348067943abnormal bone development, bowed or bent leg1847Exon 18
PHEX_0622c.1847_1848delp.Lys616Metfs*4Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941Lower Limb Deformities1847Exon 18
PHEX_0623c.1848delp.Lys616Asnfs*3Pathogenic4/28/2021Small deletionFrameshiftPHEX11-2018625346, 20157195, 348067943-1848Exon 18
PHEX_0624c.1848dupp.Cys617Metfs*4-4/28/2021Small insertionFrameshiftPHEX< 316636593, 348067942-1848Exon 18
PHEX_0625c.1850G>Tp.Cys617PheUncertain Significance4/28/2021SNVMissensePHEX3-5348067941Gait Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities1850Exon 18
PHEX_0626c.1854_1857dupp.Asn620Aspfs*2Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 319219621, 348067942-1854Exon 18
PHEX_0630c.1859_1862dupp.Tyr622Profs*3Pathogenic4/28/2021Small insertionFrameshiftPHEX< 326051471, 348067942-1862Exon 18
PHEX_0628c.1861C>Tp.Gln621*-4/28/2021SNVNonsensePHEX< 322101457, 22913777, 24857004, 348067944-1861Exon 18
PHEX_0629c.1862A>Gp.Gln621Arg-4/28/2021SNVMissensePHEX< 39768674, 16636593, 21604088, 348067944-1862Exon 18
PHEX_1113c.1863_1870delp.Tyr622Leufs*22Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3341417031-1863Exon 18
PHEX_1072c.1864T>Cp.Tyr622HisUncertain Significance2022-02-02 00:00:00SNVMissensePHEX<3-0Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Lower limb deformities, Short Stature1864Exon 18
PHEX_0890c.1873_1876dupp.Tyr626Leufs*22Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941Reduced_TmP/GFR_(1873Exon 18
PHEX_0631c.1874_1875dupp.Tyr626Ilefs*8-4/28/2021Small duplicationFrameshiftPHEX< 329460029, 348067942-1874Exon 18
PHEX_0891c.1875_1882dupp.Lys628Ilefs*8Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941Lower limb deformities, Reduced Serum Phosphate1875Exon 18
PHEX_0632c.1875T>Gp.Tyr625*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941-1875Exon 18
PHEX_0633c.1880G>Ap.Trp627*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries1880Exon 18
PHEX_0635c.?p.Trp627*-4/28/2021SNVNonsensePHEX3-519242361, 27221261, 348067943radiological signs of rickets, bowed or bent legs, waddling gait, fraying of the distal metaphyseal line of both femurs and tibiae, nephrocalcinosis1881Exon 18
PHEX_0634c.1881G>Ap.Trp627*Pathogenic4/28/2021SNVNonsensePHEX3-516636593, 15057978, 348067943-1881Exon 18
PHEX_1073c.1885_1888dupp.Ala630Glufs*18Pathogenic2022-02-02 00:00:00Small insertionFrameshiftPHEX<3-0Bone and/or joint pain and/or joint stiffness, Lower limb deformities1888Exon 18
PHEX_1074c.1895_1899+18delp.?Pathogenic2022-02-02 00:00:00Small deletionSplice donorPHEX<3192196211abnormal bone development, radiological signs of rickets1895Exon 18, Intron 18
PHEX_0638c.1899+1G>Ap.?Pathogenic4/28/2021SplicingSplice donorPHEX3-519219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait abnormalities, Lower limb deformities1899Intron 18
PHEX_0639c.1899+1G>Tp.?-4/28/2021SplicingSplice donorPHEX< 321050253, 31102713, 348067943-1899Intron 18
PHEX_0637c.1899+2T>Ap.?-4/28/2021SplicingSplice donorPHEX< 331102713, 21293852, 24857004, 348067944-1899Intron 18
PHEX_0636c.1899+3G>CIntronicUncertain Significance4/28/2021SplicingIntronicPHEX< 3348067941Fractures/Pseudo-Fractures, Lower Limb Deformities1899Intron 18
PHEX_0640c.1899+5G>Ap.?-4/28/2021SplicingIntronicPHEX< 331102713, 19219621, 348067943Other Musculoskeletal Abnormalities, Lower Limb Deformities1899Intron 18
PHEX_1075c.1900-29_1900-28insATTp.?Uncertain Significance2022-02-02 00:00:00Small insertionIntronicPHEX<3192196211-1900Intron 18
PHEX_0642c.1900-1G>Ap.?Pathogenic4/28/2021SplicingSplice acceptorPHEX< 316261449, 348067942Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate1900Intron 18
PHEX_0641c.1900-?_*3357+?delDeletion (Exons 19-22)-4/28/2021CNVDeletionPHEX< 316636593, 9199930, 348067943-1900Exons 19-22
PHEX_0892c.1900-?_1965+?delDeletion (Exon 19)Pathogenic4/28/2021CNVDeletionPHEX< 3348067941Gait abnormalities, Lower limb deformities, Reduced Serum Phosphate1900Intron 18
PHEX_0643c.1900-?_2070+?delDeletion (Exons 19-20)Pathogenic4/28/2021CNVDeletionPHEX3-534141703, 348067942-1900Intron 18
PHEX_0644c.1919T>Cp.Leu640ProPathogenic4/28/2021SNVMissensePHEX3-519219621, 33666701, 348067943Other Musculoskeletal Abnormalities, Lower Limb Deformities1919Exon 19
PHEX_0893c.1921G>Tp.Gly641*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941Gait abnormalities, Lower limb deformities1921Exon 19
PHEX_0646c.1927_1930dupp.Ile644Lysfs*4-4/28/2021Small insertionFrameshiftPHEX< 319219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities1927Exon 19
PHEX_0647c.1929delp.Asn643Lysfs*19-4/28/2021Small deletionFrameshiftPHEX< 316636593, 348067942-1929Exon 19
PHEX_0648c.1933G>Ap.Ala645ThrLikely Pathogenic2022-02-02 00:00:00SNVMissensePHEX< 3348067941-1933Exon 19
PHEX_0649c.1935_1938dupp.Asn647*Pathogenic4/28/2021Small duplicationNonsensePHEX6-10348067941Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Fractures/Pseudo-Fractures1935Exon 19
PHEX_0895c.1936_?delp.Asp646_?del-4/28/2021Small deletionDeletionPHEX< 332133333, 348067942-1936Exon 19
PHEX_0652c.1936_1938delp.Asp646del-4/28/2021Small deletionDeletionPHEX< 324926462, 23079138, 21902834, 348067944Short Stature, Other Musculoskeletal Abnormalities1936Exon 19
PHEX_0894c.1936delp.Asp646Ilefs*16-4/28/2021Small deletionFrameshiftPHEX< 333639975, 348067942-1936Exon 19
PHEX_0651c.1936_1939dupp.Asn647Argfs*2Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 316636593, 11502829, 348067943-1936Exon 19
PHEX_0650c.1936G>Ap.Asp646Asn-4/28/2021SNVMissensePHEX3-521050253, 348067942Skull Deformities, Short Stature1936Exon 19
PHEX_0653c.1936G>Cp.Asp646HisLikely Pathogenic4/28/2021SNVMissensePHEX< 3348067941Gait abnormalities1936Exon 19
PHEX_0654c.1936G>Tp.Asp646TyrUncertain Significance4/28/2021SNVMissensePHEX< 3348067941-1936Exon 19
PHEX_1076c.1937A>Gp.Asp646GlyPathogenic2022-02-02 00:00:00SNVMissensePHEX<3-01937Exon 19
PHEX_0658c.1942G>Ap.Gly648ArgUncertain Significance4/28/2021SNVMissensePHEX< 3348067941-1942Exon 19
PHEX_0657c.1942G>Cp.Gly648ArgUncertain Significance4/28/2021SNVMissensePHEX< 3348067941-1942Exon 19
PHEX_0659c.1942G>Tp.Gly648*-4/28/2021SNVNonsensePHEX< 326051471, 348067942Skull Deformities, Other Musculoskeletal Abnormalities, Lower Limb Deformities1942Exon 19
PHEX_0660c.1946G>Ap.Gly649Asp-4/28/2021SNVMissensePHEX3-522577109, 23312231, 348067943-1946Exon 19
PHEX_0896c.1949T>Cp.Leu650ProUncertain Significance2022-02-02 00:00:00SNVMissensePHEX3-532252220, 34011663, 348067943abnormal bone development, genu varum, bowed or bent leg, short stature1949Exon 19
PHEX_1077c.1951delp.Arg651Glyfs*11Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3-0Lower limb deformities, Short Stature, Gait abnormalities, Lower limb deformities, Short Stature1951Exon 19
PHEX_0663c.1956_1957insGCTTGGGAAp.Ala653_Phe654insTrpGluAla-4/28/2021Small insertionInsertionPHEX< 319219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities1956Exon 19
PHEX_0662c.1952G>Cp.Arg651Pro-4/28/2021SNVMissensePHEX6-1010439971, 9199930, 32329911, 23079138, 16636593, 24926462, 21902834, 33639975, 25894638, 10874297, 21553362, 3480679412Other Musculoskeletal Abnormalities, genu varum, bowed or bent leg, coxa vara, arthritis, hip dysplasia1952Exon 19
PHEX_0661c.1954_1965delp.Glu652_Arg655del-4/28/2021Small deletionDeletionPHEX< 316636593, 18162710, 16055933, 348067944-1954Exon 19
PHEX_0664c.1958C>Ap.Ala653AspUncertain Significance4/28/2021SNVMissensePHEX3-522101457, 29460029, 33049132, 348067944-1958Exon 19
PHEX_0665c.1960T>Ap.Phe654IleLikely Pathogenic2022-02-02 00:00:00SNVMissensePHEX< 3348067941-1960Exon 19
PHEX_0666c.1961_1963delTTAinsp.Phe654Serfs*8Pathogenic4/28/2021Small insertionDeletion/InsertionPHEX< 3348067941-1961Exon 19
PHEX_0897c.1961T>Cp.Phe654Ser-4/28/2021SNVMissensePHEX< 333639975, 348067942-1961Exon 19
PHEX_0898c.1962dupp.Arg655*-4/28/2021Small duplicationNonsensePHEX< 332329911, 348067942-1962Exon 19
PHEX_0668c.1965+1G>Ap.?-4/28/2021SplicingSplice donorPHEX6-1010439971, 29460029, 9097956, 16636593, 24926462, 18162710, 21902834, 30599486, 19219621, 23079138, 3480679411Tooth Abscesses and/or Excessive Dental Caries, Other Musculoskeletal Abnormalities, Lower Limb Deformities1965Intron 19
PHEX_0667c.1965+1G>Tp.?-4/28/2021SplicingSplice donorPHEX< 325115781, 348067942Short Stature, Lower Limb Deformities1965Intron 19
PHEX_0670c.1966-1G>CSplice acceptorPathogenic4/28/2021SplicingSplice acceptorPHEX3-534141703, 348067942-1966Intron 19
PHEX_0669c.1966_1969dupp.Tyr657Cysfs*8Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941-1966Exon 20
PHEX_0672c.1967_?delp.Asp657_?del-4/28/2021Small deletionDeletionPHEX3-530607568, 33639975, 348067943radiological signs of rickets, short stature, abnormal bone development1967Exon 20
PHEX_0671c.1967_2025delp.Ala656Aspfs*41-4/28/2021Small deletionFrameshiftPHEX< 325086671, 21050253, 348067943-1967Exon 20
PHEX_0899c.1966-?_2070+?delDeletion (Exon 20)Likely Pathogenic4/28/2021CNVDeletionPHEX< 3348067941Gait abnormalities, Lower limb deformities, Tooth abscesses and/or excessive dental caries1966Intron 19
PHEX_0673c.1970A>Gp.Tyr657Cys-4/28/2021SNVMissensePHEX< 329707405, 19219621, 348067943Other Musculoskeletal Abnormalities, abnormal bone development, short stature, Lower Limb Deformities1970Exon 20
PHEX_0900c.1971C>Gp.Tyr657*Pathogenic4/28/2021SNVNonsensePHEX3-5348067941Fractures/pseudo-fractures, Lower limb deformities1971Exon 20
PHEX_0674c.1973_1984dupp.Arg658_Ile661dupUncertain Significance4/28/2021Small duplicationInsertionPHEX< 3348067941Lower Limb Deformities1973Exon 20
PHEX_0675c.1978_1988delp.Trp660Glnfs*6-4/28/2021Small deletionFrameshiftPHEX< 329460029, 348067942-1978Exon 20
PHEX_0901c.1979_1995dupp.Gln666Glyfs*2-4/28/2021Small duplicationFrameshiftPHEX< 332329911, 348067942-1979Exon 20
PHEX_0676c.1979G>Ap.Trp660*Pathogenic4/28/2021SNVNonsensePHEX6-1016636593, 9199930, 29707405, 34141703, 348067945-1979Exon 20
PHEX_0677c.1980G>Ap.Trp660*-4/28/2021SNVNonsensePHEX< 324836714, 348067942Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities1980Exon 20
PHEX_0902c.1982_1986dupp.Asp663*Pathogenic4/28/2021Small duplicationNonsensePHEX< 3348067941Lower limb deformities, Tooth abscesses and/or excessive dental caries, Reduced Serum Phosphate1982Exon 20
PHEX_1078c.1985delp.Asn662Metfs*25Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3-0Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Short Stature1985Exon 20
PHEX_0904c.1986_1987insTGACp.Asp663*-4/28/2021SplicingNonsensePHEX< 324926462, 23079138, 16636593, 34806794, 104399715-1986Exon 20
PHEX_0903c.1986_1989dupp.Arg664*-4/28/2021Small duplicationNonsensePHEX< 332329911, 348067942-1986Exon 20
PHEX_0678c.1989_1990delp.Asp663Glufs*6Pathogenic4/28/2021Small deletionFrameshiftPHEX< 310439971, 19219621, 348067943Other Musculoskeletal Abnormalities, Lower Limb Deformities1989Exon 20
PHEX_0680c.1991_1992insTGACp.Arg664Serfs*7-4/28/2021Small insertionFrameshiftPHEX< 324926462, 23079138, 15057978, 9199930, 16636593, 348067946-1991Exon 20
PHEX_0681c.1993delp.Arg665Glyfs*22-4/28/2021Small deletionFrameshiftPHEX< 316636593, 11502829, 348067943Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities1993Exon 20
PHEX_0682c.1996_2008delp.Gln666Serfs*17-4/28/2021Small deletionFrameshiftPHEX< 316636593, 18162710, 16055933, 348067944-1996Exon 20
PHEX_0683c.1999G>Tp.Gly667*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941-1999Exon 20
PHEX_0684c.2000delp.Gly667Aspfs*20Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941Gait abnormalities, Lower limb deformities, Fractures/pseudo-fractures, Tooth abscesses and/or excessive dental caries2000Exon 20
PHEX_1079c.2002_2006dupp.Glu669Aspfs*20Pathogenic2022-02-02 00:00:00Small insertionFrameshiftPHEX3-534141703, 322537252abnormal bone development, pectus carinatum, bowed or bent leg2006Exon 20
PHEX_0685c.2004_2018delp.Glu669_Leu673delUncertain Significance4/28/2021Small deletionDeletionPHEX< 3348067941-2004Exon 20
PHEX_0905c.2005_2016delp.Glu669_Leu672delUncertain Significance4/28/2021Small deletionDeletionPHEX< 3348067941-2005Exon 20
PHEX_0687c.2008G>Ap.Glu670LysUncertain Significance4/28/2021SNVMissensePHEX< 3348067941-2008Exon 20
PHEX_0686c.2008delp.Glu670Serfs*17-4/28/2021Small deletionFrameshiftPHEX< 322695891, 348067942-2008Exon 20
PHEX_0688c.2009A>Tp.Glu670ValUncertain Significance4/28/2021SNVMissensePHEX< 3348067941-2009Exon 20
PHEX_1080c.2011_2045delp.Pro671Alafs*34Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3336667011-2011Exon 20
PHEX_1081c.2011C>Ap.Pro671ThrUncertain Significance2022-02-02 00:00:00SNVMissensePHEX<3341417031-2011Exon 20
PHEX_0689c.2012delp.Pro671Leufs*16Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities2012Exon 20
PHEX_0691c.2018_2036delp.Leu673Profs*8-4/28/2021Small deletionFrameshiftPHEX< 319219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities2018Exon 20
PHEX_0690c.2018T>Gp.Leu673ArgPathogenic2022-02-02 00:00:00SNVMissensePHEX3-529460029, 348067942Lower limb deformities2018Exon 20
PHEX_0692c.2021delp.Pro674Glnfs*13Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-2021Exon 20
PHEX_0693c.2022delp.Gly675Alafs*12Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-2022Exon 20
PHEX_0694c.2028_2032dupp.Phe678Serfs*11Pathogenic4/28/2021Small duplicationFrameshiftPHEX3-5348067941Lower Limb Deformities2028Exon 20
PHEX_0695c.2030_2031dupp.Phe678Hisfs*10Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 320157195, 348067942-2030Exon 20
PHEX_0696c.2033dupp.Thr679Hisfs*38-4/28/2021Small insertionFrameshiftPHEX3-523813354, 22713460, 24857004, 34141703, 348067945-2033Exon 20
PHEX_1082c.2039_2042dupp.Asn681Lysfs*37Pathogenic2022-02-02 00:00:00Small insertionFrameshiftPHEX<3341417031-2042Exon 20
PHEX_0699c.2040_2041delp.Asn680Lysfs*36-4/28/2021Small deletionFrameshiftPHEX< 319219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities2040Exon 20
PHEX_0697c.2040C>Ap.Asn680LysUncertain Significance4/28/2021SNVMissensePHEX< 316636593, 348067942Gait Abnormalities, Lower Limb Deformities2040Exon 20
PHEX_0698c.2040C>Gp.Asn680LysUncertain Significance4/28/2021SNVMissensePHEX< 3348067941-2040Exon 20
PHEX_0701c.2044C>Tp.Gln682*-4/28/2021SNVNonsensePHEX< 315057978, 348067942-2044Exon 20
PHEX_0906c.2048T>Ap.Leu683His-4/28/2021SNVMissensePHEX< 329707405, 348067942-2048Exon 20
PHEX_0702c.2048T>Cp.Leu683Pro-4/28/2021SNVMissensePHEX3-524229582, 24857004, 348067943Short Stature, Lower Limb Deformities2048Exon 20
PHEX_0907c.2050_2055delp.Phe684_Phe685delUncertain Significance4/28/2021Small deletionDeletionPHEX< 3348067941Reduced_TmP/GFR_(2050Exon 20
PHEX_0703c.2051T>Gp.Phe684Cys-4/28/2021SNVMissensePHEX< 322577109, 348067942-2051Exon 20
PHEX_0704c.2053_2055delp.Phe685delUncertain Significance4/28/2021Small deletionDeletionPHEX< 3348067941Lower limb deformities2053Exon 20
PHEX_1083c.2054_2057delinsAp.Phe685*Pathogenic2022-02-02 00:00:00Deletion/InsertionNonsensePHEX<3341417031-2054Exon 20
PHEX_0706c.2057T>Ap.Leu686Gln-4/28/2021SNVMissensePHEX< 333049132, 348067942-2057Exon 20
PHEX_0707c.2057T>Cp.Leu686ProUncertain Significance4/28/2021SNVMissensePHEX< 3348067941Fractures/Pseudo-Fractures, Lower Limb Deformities2057Exon 20
PHEX_0908c.2058_2061dupp.Tyr688Glufs*30Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941-2058Exon 20
PHEX_0708c.2060_2063dupp.Tyr688*Pathogenic4/28/2021Small insertionNonsensePHEX6-1019219621, 33666701, 348067943-2063Exon 20
PHEX_0705c.2061?insFrameshift-4/28/2021Small insertionFrameshiftPHEX< 39768674, 348067942-2061Exon 20
PHEX_0709c.2061T>Gp.Ser687ArgLikely Pathogenic4/28/2021SNVMissensePHEX< 3348067941-2061Exon 20
PHEX_0710c.2063_2070+2del-Pathogenic4/28/2021SplicingSplice donorPHEX< 3348067941-2063Exon 20
PHEX_0712c.2064T>Ap.Tyr688*Pathogenic4/28/2021SNVNonsensePHEX3-510439971, 23079138, 16636593, 24926462, 348067945Other Musculoskeletal Abnormalities, Bone and/or joint pain and/or joint stiffness2064Exon 20
PHEX_1114c.2064T>Gp.Tyr688*Conflict2022-02-02 00:00:00SNVNonsensePHEX3-5322537251abnormal bone development, pectus carinatum, bowed or bent leg, short stature2064Exon 20
PHEX_0713c.2065G>Cp.Ala689ProUncertain Significance4/28/2021SNVMissensePHEX< 3348067941Gait Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities2065Exon 20
PHEX_0715c.2066C>Ap.Ala689Asp-4/28/2021SNVMissensePHEX< 322101457, 29460029, 348067943-2066Exon 20
PHEX_0714c.2066C>Tp.Ala689Val-4/28/2021SNVMissensePHEX< 326561226, 348067942Other Musculoskeletal Abnormalities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Nervous System2066Exon 20
PHEX_0909c.2067_2068dupp.His690Leufs*3Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941Fractures/pseudo-fractures, Reduced Serum Phosphate2067Exon 20
PHEX_0718c.2070+1G>ASplice donorPathogenic4/28/2021SplicingSplice donorPHEX3-5348067941-2070Intron 20
PHEX_0716c.2070+1G>TSplice donorLikely Pathogenic4/28/2021SplicingSplice donorPHEX< 3348067941-2070Intron 20
PHEX_0910c.2070+2T>Gp.?-4/28/2021SplicingSplice donorPHEX< 332329911, 348067942-2070Intron 20
PHEX_0717c.2070+5G>CIntronicPathogenic2022-02-02 00:00:00SplicingSplice donorPHEX3-5348067941Gait abnormalities, Lower limb deformities, Short Stature2070Intron 20
PHEX_0912c.2071-2_2072del-Pathogenic4/28/2021SplicingSplice acceptorPHEX< 3348067941Gait abnormalities, Lower limb deformities, Tooth abscesses and/or excessive dental caries2071Intron 20
PHEX_0722c.2071-2A>Cp.?Pathogenic4/28/2021SplicingSplice acceptorPHEX3-510439971, 19219621, 34141703, 348067944abnormal bone development, Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Fractures/pseudo-fractures, Short Stature2071Intron 20
PHEX_0724c.2071-2A>Gp.?Pathogenic4/28/2021SplicingSplice acceptorPHEX6-1016261449, 12414858, 22695891, 16636593, 22577109, 348067946Gait Abnormalities, Lower Limb Deformities2071Intron 20
PHEX_0723c.2071-1G>Ap.?Pathogenic4/28/2021SplicingSplice acceptorPHEX3-512414858, 16636593, 15057978, 348067944Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities2071Intron 20
PHEX_1084c.2071-1G>CSplice acceptorPathogenic2022-02-02 00:00:00SplicingSplice acceptorPHEX<3-02071Intron 20
PHEX_0726c.2071-1G>Tp.?-4/28/2021SplicingSplice acceptorPHEX< 324229582, 22913777, 348067943Lower Limb Deformities2071Intron 20
PHEX_0721c.2071A>C--4/28/2021SplicingUnknownPHEX< 310439971, 348067942-2071Exon 21
PHEX_1139c.?Deletion (Exons 21-22)Pathogenic2022-02-02 00:00:00PHEX<3-0Lower limb deformities, Short Stature2071Exons 21-22
PHEX_0720c.2071-?_*3357+?delDeletion (Exons 21-22)Pathogenic4/28/2021CNVDeletionPHEX6-1032253725, 34141703, 348067943Reduced Serum Phosphate, Gait Abnormalities, Gait abnormalities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities, abnormal bone development, pectus carinatum, bowed or bent leg2071Intron 20
PHEX_0911c.2071-?_*3357+?dupGain (Exons 21-22)Uncertain Significance4/28/2021CNVDuplicationPHEX< 3348067941Gait abnormalities, Lower limb deformities2071Intron 20
PHEX_0725c.2071-?_2147+?delDeletion (Exon 21)Pathogenic4/28/2021CNVDeletionPHEX< 3348067941Tooth abscesses and/or excessive dental caries, Reduced Serum Phosphate2071Intron 20
PHEX_0728c.2074_2082delp.Arg692_Asn694del-4/28/2021Small insertionUnknownPHEX< 39768674, 348067942-2074Exon 21
PHEX_0729c.2077_*4delinsAp.Trp693delins-4/28/2021Small insertionDeletion/InsertionPHEX< 324836714, 348067942Nervous System, Lower Limb Deformities2077Exons 21-22
PHEX_0730c.2077T>Ap.Cys693SerLikely Pathogenic4/28/2021SNVMissensePHEX< 3348067941Tooth Abscesses and/or Excessive Dental Caries2077Exon 21
PHEX_0731c.2077T>Cp.Cys693ArgLikely Pathogenic4/28/2021SNVMissensePHEX3-5348067941-2077Exon 21
PHEX_0733c.2078G>Ap.Cys693TyrPathogenic4/28/2021SNVMissensePHEX3-523079138, 30682568, 16636593, 24229582, 24857004, 348067946Short Stature, Lower Limb Deformities2078Exon 21
PHEX_1085c.2078G>Cp.Cys693SerPathogenic2022-02-02 00:00:00SNVMissensePHEX<3-0Gait abnormalities, Fractures/pseudo-fractures, Lower limb deformities, Short Stature2078Exon 21
PHEX_0732c.2078G>Tp.Cys693Phe-4/28/2021SNVMissensePHEX< 324926462, 23079138, 348067943Lower Limb Deformities2078Exon 21
PHEX_0913c.2082C>Ap.Cys694*-4/28/2021SNVNonsensePHEX< 332329911, 348067942-2082Exon 21
PHEX_0734c.2083delp.Ser695Profs*45Likely Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-2083Exon 21
PHEX_0735c.2085delp.Tyr696Thrfs*44Likely Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-2085Exon 21
PHEX_0914c.2088C>Ap.Tyr696*-4/28/2021SNVNonsensePHEX< 332329911, 348067942-2088Exon 21
PHEX_0738c.2089_2092dupp.Pro698Glnfs*20-4/28/2021Small insertionFrameshiftPHEX< 319219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities2089Exon 21
PHEX_0736c.2090_2091delp.Arg697Thrfs*19-4/28/2021Small deletionFrameshiftPHEX3-516636593, 23813354, 23079138, 24857004, 24926462, 348067946-2090Exon 21
PHEX_0739c.2093delp.Pro698Glnfs*42-4/28/2021Small deletionFrameshiftPHEX< 316636593, 9199930, 32329911, 348067944-2093Exon 21
PHEX_0740c.2095G>Tp.Glu699*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941-2095Exon 21
PHEX_0741c.2099delp.Ala700Valfs*40-4/28/2021Small deletionFrameshiftPHEX< 326287655, 16636593, 9768674, 348067944-2099Exon 21
PHEX_0742c.2100delp.Ala701Profs*39Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941Fractures/Pseudo-Fractures, Lower Limb Deformities2100Exon 21
PHEX_0744c.2104delp.Arg702Glufs*38-4/28/2021Small deletionFrameshiftPHEX3-516636593, 11502829, 348067943Lower Limb Deformities2104Exon 21
PHEX_0743c.2104C>Tp.Arg702*Pathogenic4/28/2021SNVNonsensePHEX30+26377240, 11502829, 21994957, 9768674, 23079138, 15057978, 9097956, 16636593, 24926462, 25894638, 33107440, 19219621, 21902834, 29505567, 10874297, 32253725, 34141703, 3480679418abnormal bone development, pectus carinatum, bowed or bent leg, short stature, Other Musculoskeletal Abnormalities, Short Stature, Lower Limb Deformities, Fractures/Pseudo-Fractures, Gait Abnormalities, Reduced Serum Phosphate, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities, Fractures/pseudo-fractures, abnormal bone development, pectus carinatum, bowed or bent leg, short stature2104Exon 21
PHEX_0745c.2110C>Tp.Gln704*-4/28/2021SNVNonsensePHEX< 3348067941-2110Exon 21
PHEX_0915c.2116C>Tp.Gln706*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941Reduced Serum Phosphate2116Exon 21
PHEX_0746c.2118_2119delp.Gln706Hisfs*10Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941Lower limb deformities2118Exon 21
PHEX_0916c.2125delp.Ala709Leufs*31Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941Lower limb deformities2125Exon 21
PHEX_1086c.2126delp.Ala709Valfs*31Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3-02126Exon 21
PHEX_0813c.2130_2142dupp.Phe715Glnfs*6-4/28/2021Small insertionFrameshiftPHEX< 330607568, 348067942-2142Exon 21
PHEX_1140c.?p.Ser711ArgPathogenic2022-02-02 00:00:00MissensePHEX3-5115028291bowed or bent legs, dental abscesses2133Exon 21
PHEX_0747c.2133T>Ap.Ser711Arg-4/28/2021SNVMissensePHEX3-511468271, 16636593, 12727977, 25894638, 18046499, 15470265, 12111239, 348067948-2133Exon 21
PHEX_0748c.2137_2143delinsAAp.Pro713Asnfs*2-4/28/2021Small insertionFrameshiftPHEX< 316636593, 9768674, 348067943-2137Exon 21
PHEX_0751c.2138delp.Pro713Leufs*27Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-2138Exon 21
PHEX_0749c.2138dupp.Gln714Serfs*3Pathogenic4/28/2021Small duplicationFrameshiftPHEX3-532329911, 19219621, 348067943bowed or bent legs2138Exon 21
PHEX_0750c.2139_2140dupp.Gln714Leufs*27-4/28/2021Small duplicationFrameshiftPHEX< 324926462, 23079138, 21902834, 348067944Short Stature, Other Musculoskeletal Abnormalities2139Exon 21
PHEX_0753c.2140delp.Gln714Serfs*26Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-2140Exon 21
PHEX_0754c.2140C>Tp.Gln714*-4/28/2021SNVNonsensePHEX3-516261449, 32329911, 348067943bone pain, bowed or bent legs2140Exon 21
PHEX_1087c.2142G>Cp.Gln714HisUncertain Significance2022-02-02 00:00:00SNVMissensePHEX<33414170312142Exon 21
PHEX_1088c.2147_2147+3delSplice sitePathogenic2022-02-02 00:00:00Small deletionSplice donorPHEX<3-0Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Fractures/pseudo-fractures, Lower limb deformities, Short Stature2147Exon 21, Intron 21
PHEX_0758c.2147G>Cp.Arg716ThrUncertain Significance4/28/2021SplicingIntronicPHEX< 3348067941Lower Limb Deformities2147Exon 21
PHEX_0755c.2147+1G>ASplice donorPathogenic4/28/2021SplicingSplice donorPHEX3-5348067941Gait abnormalities, Lower limb deformities2147Intron 21
PHEX_0757c.2147+2_2147+9delSplice donorPathogenic4/28/2021Small deletionSplice donorPHEX3-534141703, 348067942-2147Intron 21
PHEX_1089c.2147+1_2147+8delp.?Pathogenic2022-02-02 00:00:00Small deletionSplice donorPHEX<3219949571-2147Intron 21
PHEX_0756c.2147+2T>Ap.?-4/28/2021SplicingSplice donorPHEX< 326051471, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities2147Intron 21
PHEX_1090c.2147+2T>Gp.?Pathogenic2022-02-02 00:00:00SplicingSplice donorPHEX3192752212147Intron 21
PHEX_0759c.2148-10C>AIntronicUncertain Significance4/28/2021SplicingIntronicPHEX< 332253725, 348067942abnormal bone development, pectus carinatum, bowed or bent leg2148Intron 21
PHEX_0765c.2148-3C>GIntronicUncertain Significance4/28/2021SplicingIntronicPHEX< 3348067941-2148Intron 21
PHEX_0766c.2148-2A>Gp.?-4/28/2021SplicingSplice acceptorPHEX< 322101457, 348067942-2148Intron 21
PHEX_0917c.2148-2A>Tp.?-4/28/2021SplicingSplice acceptorPHEX< 316636593, 348067942-2148Intron 21
PHEX_0764c.2148-1G>CSplice acceptorPathogenic4/28/2021SplicingSplice acceptorPHEX< 3348067941-2148Intron 21
PHEX_0760c.2148-1G>Tp.?-4/28/2021SplicingSplice acceptorPHEX< 322695891, 25031893, 19219621, 348067944-2148Intron 21
PHEX_0761c.2149delp.Val717Serfs*23Pathogenic4/28/2021Small deletionFrameshiftPHEX< 316636593, 10439971, 348067943Other Musculoskeletal Abnormalities2149Exon 22
PHEX_0767c.2149G>Tp.Val717PheLikely Pathogenic2022-02-02 00:00:00SNVMissensePHEX3-5348067941-2149Exon 22
PHEX_0768c.2150_2151insTGp.Asn718Alafs*23-4/28/2021Small insertionFrameshiftPHEX< 326051471, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities2150Exon 22
PHEX_0762c.2148-?_*3357+?delDeletion (Exon 22)Pathogenic4/28/2021CNVDeletionPHEX< 3348067941-2148Intron 21
PHEX_0769c.2150T>Ap.Val717Asp-4/28/2021SNVMissensePHEX< 319219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities2150Exon 22
PHEX_1091c.2154_2169delinsAp.Asn718_Asn723delinsLysLikely Pathogenic2022-02-02 00:00:00Deletion/InsertionDeletionPHEX<3341417031-2154Exon 22
PHEX_0771c.2155G>Ap.Gly719Ser-4/28/2021SNVMissensePHEX< 324229582, 24857004, 348067943Short Stature, Lower Limb Deformities2155Exon 22
PHEX_0770c.2155G>Tp.Gly719Cys-4/28/2021SNVMissensePHEX< 319219621, 32253725, 348067943Other Musculoskeletal Abnormalities, Lower Limb Deformities, abnormal bone development, bowed or bent leg2155Exon 22
PHEX_0772c.2156delp.Gly719Valfs*21-4/28/2021Small deletionFrameshiftPHEX< 323813354, 348067942-2156Exon 22
PHEX_1092c.2157_2160dupp.Ile721Cysfs*3Pathogenic2022-02-02 00:00:00Small insertionFrameshiftPHEX<3-0Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short Stature2160Exon 22
PHEX_0918c.2158_2165delp.Ala720*Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941Gait abnormalities, Lower limb deformities2158Exon 22
PHEX_0774c.2158G>Ap.Ala720Thr-4/28/2021SNVMissensePHEX11-209768674, 16636593, 12727977, 25042154, 23813354, 32511895, 28982589, 18046499, 21604088, 10439971, 3480679411-2158Exon 22
PHEX_0773c.2158G>Tp.Ala720Ser-4/28/2021SNVMissensePHEX< 328982589, 32511895, 348067943Bone and/or Joint Pain and/or Joint Stiffness, Tooth Abscesses and/or Excessive Dental Caries2158Exon 22
PHEX_0775c.2159C>Ap.Ala720GluPathogenic4/28/2021SNVMissensePHEX3-5348067941-2159Exon 22
PHEX_0776c.2160_2175delp.Ile721Asnfs*14-4/28/2021Small deletionFrameshiftPHEX< 319219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities2160Exon 22
PHEX_0777c.2162_2163insCCCTp.Ser722Profs*2-4/28/2021Small insertionFrameshiftPHEX< 310439971, 23079138, 24926462, 348067944Other Musculoskeletal Abnormalities2162Exon 22
PHEX_0778c.2164delp.Ser722Valfs*18Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities2164Exon 22
PHEX_0780c.2165_2184dupp.Lys729Valfs*18Pathogenic4/28/2021Small duplicationFrameshiftPHEX< 3348067941Gait Abnormalities, Lower Limb Deformities2165Exon 22
PHEX_0981-p.Ser722fs-4/28/2021Small insertionFrameshiftPHEX< 316636593, 348067942-2166Exon 22
PHEX_0779c.2166_2199delinsFrameshift-4/28/2021Small insertionFrameshiftPHEX< 39768674, 348067942-2166Exon 22
PHEX_0781c.2166delinsGGp.Ser722Argfs*4-4/28/2021Small insertionFrameshiftPHEX< 330238432, 24594262, 348067943Gait Abnormalities, Skull Deformities, Thyroid2166Exon 22
PHEX_0782c.2168dupp.Asn723Lysfs*3-4/28/2021Small duplicationFrameshiftPHEX< 324926462, 23079138, 21902834, 348067944Short Stature, Other Musculoskeletal Abnormalities2168Exon 22
PHEX_0783c.2171_2172delp.Phe724*-4/28/2021Small deletionNonsensePHEX< 323079138, 16055933, 16636593, 24926462, 18162710, 30599486, 32253725, 348067948abnormal bone development, pectus carinatum, bowed or bent leg, short stature2171Exon 22
PHEX_0784c.2171_2172insAACTp.Phe724Leufs*3-4/28/2021Small insertionFrameshiftPHEX< 319219621, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities2171Exon 22
PHEX_0785c.2172_*236delPartial Deletion (Exon 22)Pathogenic4/28/2021CNVUntranslated regionPHEX< 3348067941Gait Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities2172Exon 22
PHEX_0919c.2179T>Cp.Phe727Leu-4/28/2021SNVMissensePHEX3-532329911, 16636593, 32511895, 348067944-2179Exon 22
PHEX_0786c.2182C>Tp.Gln728*Pathogenic4/28/2021SNVNonsensePHEX3-531474501, 15057978, 348067943bowed or bent legs, Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities2182Exon 22
PHEX_0920c.2188G>Tp.Ala730Ser-4/28/2021SNVMissensePHEX< 329707405, 348067942-2188Exon 22
PHEX_0787c.2189delp.Ala730Valfs*10Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-2189Exon 22
PHEX_0789c.2192T>Ap.Phe731Tyr-4/28/2021SNVMissensePHEX< 39768674, 16636593, 12727977, 23813354, 32511895, 21604088, 22713460, 348067948-2192Exon 22
PHEX_0788c.2192T>Cp.Phe731Ser-4/28/2021SNVMissensePHEX6-1023813354, 22713460, 29901142, 24857004, 27840894, 34141703, 348067947Tooth Abscesses and/or Excessive Dental Caries, Short Stature, Lower Limb Deformities, genu varum2192Exon 22
PHEX_0790c.2193delp.Phe731Leufs*9Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-2193Exon 22
PHEX_1093c.2194_2197dupp.Cys733*Pathogenic2022-02-02 00:00:00Small insertionNonsensePHEX<3248570041-2197Exon 22
PHEX_0791c.2193_2194insAlup.Phe731fsPathogenic4/28/2021Alu insertionFrameshiftPHEX< 3348067941-2193Exon 22
PHEX_0792c.2197T>Cp.Cys733ArgPathogenic4/28/2021SNVMissensePHEX3-525839938, 22527485, 34806794, 166365934Other Musculoskeletal Abnormalities, Bone and/or Joint Pain and/or Joint Stiffness, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries2197Exon 22
PHEX_0921c.?p.Cys733Arg-4/28/2021SNVMissensePHEX< 329933856, 29735309, 348067943-2199Exon 22
PHEX_0794c.2198G>Ap.Cys733TyrLikely Pathogenic4/28/2021SNVMissensePHEX3-525839938, 21293852, 16636593, 30607568, 23813354, 24857004, 348067947Other Musculoskeletal Abnormalities, Bone and/or Joint Pain and/or Joint Stiffness, Lower Limb Deformities, Fractures/Pseudo-Fractures, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries2198Exon 22
PHEX_0793c.2198G>Cp.Cys733SerUncertain Significance4/28/2021SNVMissensePHEX3-510439971, 23079138, 16636593, 24926462, 29610183, 348067946Other Musculoskeletal Abnormalities, Fractures/Pseudo-Fractures, Lower Limb Deformities, Gait Abnormalities, Skull Deformities2198Exon 22
PHEX_0795c.2198G>Tp.Cys733PheUncertain Significance4/28/2021SNVMissensePHEX3-533639975, 30607568, 348067943radiological signs of rickets, abnormal bone development2198Exon 22
PHEX_1094c.2199T>Ap.Cys733*Pathogenic2022-02-02 00:00:00SNVNonsensePHEX<3-02199Exon 22
PHEX_0797c.2202delp.Asn736Ilefs*4-4/28/2021Small deletionFrameshiftPHEX< 330792871, 348067942Gait Abnormalities, Lower Limb Deformities2202Exon 22
PHEX_1095c.2214_2234delp.Met739_Ser745delUncertain Significance2022-02-02 00:00:00Small deletionDeletionPHEX<3-0Gait abnormalities, Bone and/or joint pain and/or joint stiffness, Tooth abscesses and/or excessive dental caries, Lower limb deformities, Short Stature2214Exon 22
PHEX_1096c.2216_2225delp.Met739Thrfs*29Pathogenic2022-02-02 00:00:00Small deletionFrameshiftPHEX<3-02216Exon 22
PHEX_0922c.2221A>Tp.Arg741*Pathogenic4/28/2021SNVNonsensePHEX< 3348067941Gait abnormalities, Lower limb deformities2221Exon 22
PHEX_1097c.2227dupp.Met743Asnfs*51Pathogenic2022-02-02 00:00:00Small insertionFrameshiftPHEX<3326989541 difficulty walking, genu varum, lower limb weakness, myelopathy, pain, bowed or bent legs, Ankylosis, short stature, paravertebral ligament ossification, 2227Exon 22
PHEX_1098c.2230_2231insCp.Asp744Alafs*50Pathogenic2022-02-02 00:00:00Small insertionFrameshiftPHEX<3322537251abnormal bone development, pectus carinatum, bowed or bent leg2230Exon 22
PHEX_0923c.2236dupp.Cys746Leufs*48-4/28/2021Small duplicationFrameshiftPHEX< 332329911, 348067942-2236Exon 22
PHEX_0798c.2237G>Ap.Cys746TyrPathogenic4/28/2021SNVMissensePHEX11-2023813354, 24857004, 348067943Short Stature, Fractures/Pseudo-Fractures, Lower Limb Deformities, Gait Abnormalities, Tooth Abscesses and/or Excessive Dental Caries2237Exon 22
PHEX_1099c.2237G>Tp.Cys746PheLikely Pathogenic2022-02-02 00:00:00SNVMissensePHEX<3-0Gait abnormalities, Lower limb deformities2237Exon 22
PHEX_0799c.2238C>Ap.Cys746*-4/28/2021SNVNonsensePHEX3-516636593, 11502829, 348067943Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities2238Exon 22
PHEX_0800c.2238C>Gp.Cys746Trp-4/28/2021SNVMissensePHEX< 310439971, 16636593, 24926462, 23079138, 30792871, 12001226, 348067947Other Musculoskeletal Abnormalities2238Exon 22
PHEX_0801c.2239delp.Arg747Aspfs*24Pathogenic4/28/2021Small deletionFrameshiftPHEX< 3348067941-2239Exon 22
PHEX_0802c.2239C>Tp.Arg747*Pathogenic4/28/2021SNVNonsensePHEX30+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, 3480679433Other Musculoskeletal Abnormalities, Lower Limb Deformities, Gait Abnormalities, Fractures/Pseudo-Fractures, Tooth Abscesses and/or Excessive Dental Caries, abnormal bone development, pectus carinatum, bowed or bent leg, short stature2239Exon 22
PHEX_1100c.2240G>Cp.Arg747ProLikely Pathogenic2022-02-02 00:00:00SNVMissensePHEX<3-0Lower limb deformities2240Exon 22
PHEX_0805c.2243T>Gp.Leu748Arg-4/28/2021SNVMissensePHEX< 3348067941-2243Exon 22
PHEX_1141c.?p.Trp749ArgLikely Pathogenic2022-02-02 00:00:00MissensePHEX3-510439971, 21604088, 120012261abnormal bone development2244Exon 22
PHEX_0804c.2244_2245delp.Trp749Valfs*44-4/28/2021Small deletionFrameshiftPHEX< 328383812, 348067942Lower Limb Deformities2244Exon 22
PHEX_0807c.2245_2246insACTCp.Trp749Tyrfs*46-4/28/2021Small insertionFrameshiftPHEX< 315057978, 348067942-2245Exon 22
PHEX_1101c.2245T>Ap.Trp749ArgLikely Pathogenic2022-02-02 00:00:00SNVMissensePHEX<3-0Reduced Serum Phosphate2245Exon 22
PHEX_0806c.2245T>Cp.Trp749ArgPathogenic4/28/2021SNVMissensePHEX3-59768674, 16636593, 32253725, 348067944Tooth Abscesses and/or Excessive Dental Caries, Lower Limb Deformities, abnormal bone development, pectus carinatum, bowed or bent leg, short stature2245Exon 22
PHEX_0808c.2246G>Cp.Trp749SerUncertain Significance4/28/2021SNVMissensePHEX< 316636593, 348067942-2246Exon 22
PHEX_0924c.2248T>Cp.*750Glnext*9Likely Pathogenic4/28/2021SNV-PHEX< 3348067941Reduced_TmP/GFR_(2248Exon 22
PHEX_0809c.2249A>Tp.*750Leuext*9Likely Pathogenic4/28/2021SNVExtensionPHEX< 321050253, 28383812, 348067943-2249Exon 22
PHEX_0810c.2250G>Cp.*750Tyrext*9Likely Pathogenic4/28/2021SNVExtensionPHEX< 326051471, 348067942Other Musculoskeletal Abnormalities, Lower Limb Deformities2250Exon 22
PHEX_0811c.*58C>Tp.?-4/28/2021SNVUntranslated regionPHEX< 318625346, 348067942-23183' UTR
PHEX_0812c.*231A>Gp.?Likely Pathogenic4/28/2021SNVUntranslated regionPHEX30+31242375, 31910300, 29417983, 31242373, 28982589, 25042154, 31242372, 18625346, 31242376, 31242374, 3480679411Fractures/Pseudo-Fractures, Gait Abnormalities, Lower Limb Deformities, Tooth Abscesses and/or Excessive Dental Caries, Lower limb deformities24913' UTR
PHEX_0925c.?-2664_2949-?dup--4/28/2021CNVDuplicationPHEX6-1033639975, 348067942-26643' UTR
    Notes:
  • * 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

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