SLC34A3 — 859 ClinVar variants

All ClinVar germline SLC34A3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 336 flagged for review →

31 Pathogenic · 17 Pathogenic/Likely pathogenic · 44 Likely pathogenic · 60 Conflicting · 18 Benign · 26 Benign/Likely benign · 285 Likely benign · 378 Uncertain significance

Full SLC34A3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 336

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

SLC34A3 p.Pro369Leu Likely pathogenic Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ile197Val Likely pathogenic No assertion criteria
Hypercalciuria

Predictors agree, ClinVar conflicts 19

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

SLC34A3 p.Ala233Val Conflicting Single submitter
Inborn genetic diseases
SLC34A3 p.Arg412Trp Conflicting Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Arg485His Conflicting Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Arg568Cys Conflicting Single submitter
Inborn genetic diseases
SLC34A3 p.Gly166Ser Conflicting Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Gly264Ser Conflicting Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Gly293Ser Conflicting Single submitter
Inborn genetic diseases
SLC34A3 p.Gly374Ser Conflicting Single submitter
Inborn genetic diseases
SLC34A3 p.Gly423Asp Conflicting Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Gly495Ala Conflicting Single submitter
Inborn genetic diseases
SLC34A3 p.Ile529Phe Conflicting Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Leu215Pro Conflicting Single submitter
Inborn genetic diseases
SLC34A3 p.Leu307Met Conflicting Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Met403Arg Conflicting Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Met512Thr Conflicting Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ser138Phe Conflicting Single submitter
SLC34A3-related disorder
SLC34A3 p.Val165Ile Conflicting Single submitter
SLC34A3 p.Val399Ile Conflicting Single submitter
Inborn genetic diseases
SLC34A3 p.Val92Ile Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 236

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 236

SLC34A3 p.Ala193Val Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Ala212Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Ala235Val Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ala266Thr Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ala314Thr Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ala364Val Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ala381Val Uncertain significance Multiple submitters
SLC34A3 p.Ala383Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Ala437Thr Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ala447Thr Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ala482Ser Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ala502Val Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Ala516Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Ala585Thr Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ala96Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Arg182Gln Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Arg187Lys Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Arg310Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Arg351His Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Arg412Gln Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Arg483His Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Arg536Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Arg537Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Arg538Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Arg547Cys Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Arg568His Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Arg61Cys Uncertain significance Multiple submitters
SLC34A3 p.Arg67Cys Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Arg68Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Asn27Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Asp183Asn Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Asp365Asn Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Glu22Lys Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Glu297Lys Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Glu513Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Gly166Arg Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Gly166Asp Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Gly277Ser Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Gly290Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Gly29Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Gly315Val Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Gly330Ser Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Gly384Ser Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Gly423Ser Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Gly478Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Gly7Ser Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ile124Thr Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ile342Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Ile422Val Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Leu131Val Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Leu246Val Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Leu332Pro Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Leu377Pro Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Leu47His Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Leu506His Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Leu527Phe Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Lys110Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Met176Ile Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Phe451Leu Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Pro13Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Pro245Leu Uncertain significance Multiple submitters
SLC34A3 p.Pro282Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Pro294Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Pro303Leu Uncertain significance Multiple submitters
SLC34A3 p.Pro470Arg Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Pro578Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Ser228Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Ser261Gly Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ser32Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Ser442Gly Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ser576Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Thr202Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Thr230Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Thr267Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Thr278Ala Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Thr316Met Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Thr319Met Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Tyr484His Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Val128Asp Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Val251Leu Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Val251Met Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Val340Ile Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Val354Met Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Val357Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Val358Met Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Val379Ile Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Val400Leu Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Val574Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Val62Met Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Val73Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Ala105Val Uncertain significance Single submitter
SLC34A3 p.Ala130Val Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ala177Glu Uncertain significance Single submitter
SLC34A3 p.Ala17Thr Uncertain significance Single submitter
SLC34A3 p.Ala291Val Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Ala304Val Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ala314Val Uncertain significance Single submitter
SLC34A3 p.Ala34Thr Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ala381Glu Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ala381Pro Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Ala381Thr Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Ala383Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Ala443Gly Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Ala443Thr Uncertain significance Single submitter
SLC34A3 p.Ala456Gly Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Ala509Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Ala516Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Ala580Ser Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ala580Val Uncertain significance Single submitter
SLC34A3 p.Arg182Pro Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Arg232Gly Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Arg353His Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Arg468Gln Uncertain significance Single submitter
SLC34A3 p.Arg468Leu Uncertain significance Single submitter
SLC34A3 p.Arg545Cys Uncertain significance Single submitter
SLC34A3 p.Arg545His Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Arg547His Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Arg564His Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Arg568Ser Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Arg61His Uncertain significance Single submitter
SLC34A3 p.Arg61Pro Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Arg65Lys Uncertain significance Single submitter
SLC34A3 p.Arg67Leu Uncertain significance Single submitter
SLC34A3 p.Asn164Ser Uncertain significance Single submitter
SLC34A3 p.Asn164Thr Uncertain significance Single submitter
SLC34A3 p.Asn573Ser Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Asp181Glu Uncertain significance Single submitter
SLC34A3 p.Asp183His Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Asp254Asn Uncertain significance Single submitter
SLC34A3 p.Asp256Asn Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Asp91Tyr Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Gln356His Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Glu285Lys Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Glu38Gly Uncertain significance Single submitter
SLC34A3 p.Gly101Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Gly101Val Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Gly121Glu Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Gly162Asp Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Gly264Val Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Gly277Asp Uncertain significance Single submitter
SLC34A3 p.Gly290Asp Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Gly290Val Uncertain significance Single submitter
SLC34A3 p.Gly29Arg Uncertain significance Single submitter
SLC34A3 p.Gly406Glu Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Gly40Arg Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Gly64Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Gly71Cys Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Gly71Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Gly7Arg Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Gly81Ser Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria

Predictors split 79

The independent predictors disagree with each other — read with care.

SLC34A3 p.Ala355Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Ala413Val Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ala482Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Ala509Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Arg182Trp Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Arg353Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Arg483Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Arg536Trp Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Arg538Trp Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Arg564Cys Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Arg67His Benign Multiple submitters
SLC34A3 p.Arg68Gly Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Arg68His Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Asp107Gly Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Gln178Arg Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Gly106Arg Uncertain significance Multiple submitters
SLC34A3 p.Gly196Arg Pathogenic/Likely pathogenic Multiple submitters
SLC34A3-related disorder
SLC34A3 p.Gly518Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Gly523Arg Uncertain significance Multiple submitters
SLC34A3 p.Gly78Arg Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Leu418Val Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Phe395Leu Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Pro472Leu Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Pro539Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Pro553Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Ser348Cys Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Thr396Met Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Val132Met Uncertain significance Multiple submitters
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Val142Met Uncertain significance Multiple submitters
Inborn genetic diseases
SLC34A3 p.Ala105Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Ala443Val Uncertain significance Single submitter
SLC34A3 p.Ala488Thr Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Arg154Trp Conflicting Single submitter
Inborn genetic diseases
SLC34A3 p.Arg218Trp Uncertain significance Single submitter
SLC34A3 p.Arg351Cys Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Arg353Leu Conflicting Single submitter
SLC34A3-related disorder
SLC34A3 p.Asn112Asp Uncertain significance Single submitter
SLC34A3 p.Asn164Asp Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Asn454Ser Uncertain significance Single submitter
SLC34A3 p.Asp107Tyr Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Asp438Asn Uncertain significance Single submitter
SLC34A3 p.Asp438His Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Cys336Arg Uncertain significance Single submitter
SLC34A3 p.Cys77Arg Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Gly404Ala Uncertain significance Single submitter
retinitis pigmentosa 59
SLC34A3 p.Gly495Arg Uncertain significance Single submitter
SLC34A3 p.Gly505Glu Uncertain significance Single submitter
SLC34A3 p.Gly519Asp Uncertain significance Single submitter
SLC34A3 p.Gly81Asp Conflicting Single submitter
Inborn genetic diseases
SLC34A3 p.His311Gln Uncertain significance Single submitter
SLC34A3 p.Leu209Met Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Leu318Phe Uncertain significance Single submitter
SLC34A3 p.Leu318Pro Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Leu559Val Uncertain significance Single submitter
SLC34A3 p.Leu60Phe Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Phe313Leu Uncertain significance Single submitter
SLC34A3 p.Pro369Ser Uncertain significance Single submitter
SLC34A3 p.Pro369Thr Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Pro520Leu Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Pro539Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC34A3 p.Pro561Thr Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ser211Asn Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ser220Asn Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ser270Asn Uncertain significance Single submitter
SLC34A3 p.Ser348Phe Uncertain significance Single submitter
SLC34A3 p.Ser409Arg Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ser435Arg Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ser548Phe Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Ser89Thr Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Thr137Met Conflicting Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Thr213Met Conflicting Single submitter
Inborn genetic diseases
SLC34A3 p.Thr425Ala Uncertain significance Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Thr567Ile Uncertain significance Single submitter
SLC34A3 p.Val153Ala Conflicting Single submitter
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Val203Ala Uncertain significance Single submitter
SLC34A3 p.Val323Met Uncertain significance Single submitter
SLC34A3 p.Gln445Arg Uncertain significance No assertion criteria
hereditary hypophosphatemic rickets with hypercalciuria
SLC34A3 p.Gly191Ser Uncertain significance No assertion criteria
SLC34A3-related disorder
SLC34A3 p.Ser82Ile Uncertain significance No assertion criteria

All SLC34A3 variants

Pathogenic 31

p.Gly337fs Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Gly457Ser Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Ile238fs Multiple submitters Inborn genetic diseases
p.Leu246fs Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
c.1093+68_1106del Single submitter
c.1336-11_1336-1del Single submitter hereditary hypophosphatemic rickets with hypercalciuria
c.926-1G>A Single submitter
c.926-2A>G Single submitter
p.Arg547fs Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Gln281Ter Single submitter
p.Gln390Ter Single submitter
p.Gln49Ter Single submitter
p.Gln98Ter Single submitter
p.Gly315fs Single submitter
p.Gly406Val Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Gly519fs Single submitter
p.Gly71fs Single submitter
p.Ile529fs Single submitter
p.Leu416fs Single submitter
p.Leu493fs Single submitter
p.Phe368fs Single submitter Inborn genetic diseases
p.Pro245fs Single submitter
p.Pro303fs Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Pro48fs Single submitter
p.Ser192Trp Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Trp372Ter Single submitter
p.Trp45Ter Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Trp541Ter Single submitter hereditary hypophosphatemic rickets with hypercalciuria
c.1093+41_1094-15del No assertion criteria hereditary hypophosphatemic rickets with hypercalciuria
p.Cys77fs No assertion criteria hereditary hypophosphatemic rickets with hypercalciuria
p.Pro520fs No assertion criteria hereditary hypophosphatemic rickets with hypercalciuria

Pathogenic/Likely pathogenic 17

c.1093+1G>C Multiple submitters SLC34A3-related disorder
c.1093+2T>C Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
c.1335+2T>A Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
c.448+1G>A Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
c.448+2T>C Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
c.925+20_926-48del Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Ala413Glu Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Arg468Trp Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Gly196Arg Multiple submitters SLC34A3-related disorder ⚠
p.Leu224fs Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Leu417fs Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Leu521fs Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Met1Ile Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Met1Thr Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Ser192Leu Multiple submitters Hypophosphataemia or rickets
p.Tyr414Ter Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Val349fs Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria

Likely pathogenic 44

c.1094-63_1115del Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
c.176-1G>A Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
c.305-1G>C Multiple submitters SLC34A3-related disorder
c.449-1G>C Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
c.846+1G>A Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
c.1093_1093+9del Single submitter hereditary hypophosphatemic rickets with hypercalciuria
c.1094-2A>G Single submitter
c.1094-44_1134del Single submitter
c.1210+2T>C Single submitter
c.1211-1G>A Single submitter
c.1335+1G>C Single submitter hereditary hypophosphatemic rickets with hypercalciuria
c.1336-1G>A Single submitter
c.1336-1G>T Single submitter
c.1336-2A>C Single submitter hereditary hypophosphatemic rickets with hypercalciuria
c.175+1G>A Single submitter
c.175+1G>T Single submitter
c.449-18_456del Single submitter
c.561-1G>A Single submitter
c.756+1G>C Single submitter hereditary hypophosphatemic rickets with hypercalciuria
c.757-1G>A Single submitter
c.85+1G>A Single submitter hereditary hypophosphatemic rickets with hypercalciuria
c.926-1G>C Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Arg187Met Single submitter SLC34A3-related disorder
p.Arg61fs Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Cys276Ter Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Cys289Ter Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Gln234Ter Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Gln535Ter Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Gly404Arg Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Gly419Asp Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Leu370= Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Leu441fs Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Leu501fs Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Leu66fs Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Pro369Leu Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Trp200Ter Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Trp461Ter Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Trp551Ter Single submitter
p.Tyr376Ter Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Val487fs Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Ile197Val No assertion criteria Hypercalciuria ⚠
p.Ser171Arg No assertion criteria hereditary hypophosphatemic rickets with hypercalciuria
p.Thr425Ile No assertion criteria hereditary hypophosphatemic rickets with hypercalciuria
p.Tyr462Ter No assertion criteria hereditary hypophosphatemic rickets with hypercalciuria

Conflicting classifications of pathogenicity 60

c.304+2T>C Single submitter hereditary hypophosphatemic rickets with hypercalciuria
c.305-7G>A Single submitter hereditary hypophosphatemic rickets with hypercalciuria
c.448+5G>A Single submitter hereditary hypophosphatemic rickets with hypercalciuria
c.449-14C>A Single submitter hereditary hypophosphatemic rickets with hypercalciuria
c.449-3C>T Single submitter
c.449-9C>G Single submitter hereditary hypophosphatemic rickets with hypercalciuria
c.449-9dup Single submitter hereditary hypophosphatemic rickets with hypercalciuria
c.560+27_561-38del Single submitter hereditary hypophosphatemic rickets with hypercalciuria
c.925+32C>G Single submitter
c.-39-1G>A Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Ala233Val Single submitter Inborn genetic diseases ⚠
p.Ala329= Single submitter
p.Ala364= Single submitter
p.Ala383= Single submitter
p.Ala388= Single submitter
p.Ala488= Single submitter
p.Ala70= Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Arg154Trp Single submitter Inborn genetic diseases ⚠
p.Arg187= Single submitter Inborn genetic diseases
p.Arg353Leu Single submitter SLC34A3-related disorder ⚠
p.Arg412Trp Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Arg485Cys Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Arg485His Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Arg568Cys Single submitter Inborn genetic diseases ⚠
p.Arg65_Gly71del Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Asn265= Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Gln252= Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Gly125= Single submitter
p.Gly166Ser Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Gly264Ser Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Gly293Ser Single submitter Inborn genetic diseases ⚠
p.Gly315= Single submitter
p.Gly374Ser Single submitter Inborn genetic diseases ⚠
p.Gly423Asp Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Gly495Ala Single submitter Inborn genetic diseases ⚠
p.Gly81Asp Single submitter Inborn genetic diseases ⚠
p.Ile326= Single submitter
p.Ile529Phe Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Leu215Pro Single submitter Inborn genetic diseases ⚠
p.Leu307Met Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Leu527del Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Met403Arg Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Met512Thr Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Phe453del Single submitter SLC34A3-related disorder
p.Pro282= Single submitter SLC34A3-related disorder
p.Pro294= Single submitter
p.Ser138Phe Single submitter SLC34A3-related disorder ⚠
p.Ser255= Single submitter
p.Ser435fs Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Thr137Met Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Thr213Met Single submitter Inborn genetic diseases ⚠
p.Thr279= Single submitter
p.Thr316= Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Trp555Ter Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Tyr491= Single submitter
p.Val153Ala Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Val165Ile Single submitter ⚠
p.Val358= Single submitter SLC34A3-related disorder
p.Val399Ile Single submitter Inborn genetic diseases ⚠
p.Val92Ile Single submitter Inborn genetic diseases ⚠

Benign 18

c.1094-10T>A Multiple submitters
c.1336-143T>C Multiple submitters
c.176-103C>G Multiple submitters
c.756+9G>A Multiple submitters
c.*14A>C Multiple submitters
p.Arg67His Multiple submitters ⚠
p.Glu513Val Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Leu131= Multiple submitters
p.Leu253= Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
c.1335+267C>G Single submitter
c.1336-3dup Single submitter
c.175+185A>G Single submitter
c.560+10G>C Single submitter
c.925+37C>T Single submitter
c.926-62G>A Single submitter
c.926-83G>A Single submitter
p.Glu513= Single submitter
p.Pro369= Single submitter

Benign/Likely benign 26

c.1093+19G>A Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
c.1093+8C>T Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
c.1210+17G>A Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
c.1336-8G>A Multiple submitters
c.175+123C>T Multiple submitters
c.304+20C>T Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
c.449-9del Multiple submitters
c.756+21dup Multiple submitters
p.Ala227Thr Multiple submitters
p.Ala314= Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Ala515= Multiple submitters
p.Arg310His Multiple submitters Inborn genetic diseases
p.Asp107= Multiple submitters
p.Asp237Asn Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Asp91= Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Cys276= Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Gly180Ala Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Gly337Ser Multiple submitters
p.Ile159= Multiple submitters
p.Leu209= Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Leu494= Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Phe292= Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Phe504= Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Ser260Asn Multiple submitters
p.Thr279Met Multiple submitters
p.Val357= Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria

Likely benign 285

c.1093+9G>A Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
c.1335+6G>T Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
c.1336-9C>T Multiple submitters
c.175+17C>T Multiple submitters
c.560+15G>C Multiple submitters
c.561-9C>T Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
c.756+17C>T Multiple submitters
c.757-15C>T Multiple submitters
c.757-16C>T Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
c.846+15C>T Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
c.86-120C>T Multiple submitters
c.925+10G>A Multiple submitters
p.Ala193= Multiple submitters
p.Ala235= Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Ala304= Multiple submitters
p.Ala388Thr Multiple submitters Inborn genetic diseases
p.Ala413= Multiple submitters
p.Ala63= Multiple submitters
p.Arg351= Multiple submitters
p.Arg468= Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Arg537His Multiple submitters
p.Arg68= Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Asn573= Multiple submitters
p.Gly290= Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Gly375Ser Multiple submitters
p.Gly382= Multiple submitters
p.Ile250= Multiple submitters Inborn genetic diseases
p.Ile422= Multiple submitters
p.Leu239= Multiple submitters
p.Leu345= Multiple submitters
p.Leu373= Multiple submitters
p.Leu80= Multiple submitters Inborn genetic diseases
p.Lys51= Multiple submitters
p.Phe477= Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Pro236= Multiple submitters
p.Pro539= Multiple submitters
p.Pro543= Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Pro553= Multiple submitters
p.Pro578= Multiple submitters
p.Pro6= Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Ser192= Multiple submitters
p.Ser393= Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Ser442= Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Thr137= Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Thr30= Multiple submitters
p.Val104= Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Val517= Multiple submitters
c.1093+10T>C Single submitter
c.1093+22_1093+26del Single submitter
c.1093+9G>T Single submitter
c.1094-10del Single submitter
c.1094-13G>A Single submitter
c.1094-14G>A Single submitter
c.1094-14G>C Single submitter
c.1094-15C>T Single submitter
c.1094-9C>A Single submitter
c.1094-9C>T Single submitter
c.1210+12G>A Single submitter
c.1210+7A>G Single submitter
c.1210+8G>A Single submitter
c.1335+11C>A Single submitter
c.1335+12C>T Single submitter
c.1335+16C>T Single submitter
c.1335+17C>T Single submitter
c.1335+20G>A Single submitter
c.1335+5T>C Single submitter
c.1336-13C>G Single submitter
c.175+10G>A Single submitter
c.175+18G>A Single submitter
c.176-10G>C Single submitter
c.176-12_176-11del Single submitter
c.176-16T>A Single submitter
c.176-5C>T Single submitter
c.304+10G>A Single submitter
c.304+12G>C Single submitter
c.304+14C>G Single submitter
c.304+14C>T Single submitter
c.304+15G>A Single submitter
c.304+18T>G Single submitter
c.304+9C>T Single submitter
c.305-5T>C Single submitter
c.305-9C>T Single submitter
c.448+7G>A Single submitter
c.449-10C>T Single submitter
c.449-13C>T Single submitter
c.449-14C>G Single submitter
c.449-14C>T Single submitter
c.449-6C>T Single submitter
c.449-9C>A Single submitter
c.560+10G>A Single submitter
c.560+11G>A Single submitter
c.560+18G>A Single submitter
c.756+15C>T Single submitter
c.756+16G>A Single submitter
c.756+17C>G Single submitter
c.756+8C>T Single submitter
c.757-11C>T Single submitter
c.757-14C>T Single submitter
c.757-16C>A Single submitter
c.757-17A>G Single submitter
c.757-18G>A Single submitter
c.757-18G>C Single submitter
c.757-19C>T Single submitter
c.757-7C>T Single submitter
c.846+10C>T Single submitter
c.846+14C>T Single submitter
c.847-12T>C Single submitter
c.847-19T>A Single submitter
c.847-4C>T Single submitter
c.847-6C>T Single submitter
c.85+14C>T Single submitter
c.85+18G>A Single submitter
c.85+7G>T Single submitter
c.86-14T>C Single submitter
c.925+10G>C Single submitter
c.925+11_925+12insGCCC Single submitter
c.925+11_925+12insGCCCC Single submitter
c.925+15A>C Single submitter
c.925+20A>C Single submitter
c.925+22G>C Single submitter
c.925+23C>T Single submitter
c.925+24C>A Single submitter
c.925+31A>G Single submitter
c.925+36C>T Single submitter
c.925+38A>C Single submitter
c.925+43C>G Single submitter
c.925+47C>T Single submitter
c.925+48T>C Single submitter
c.925+51C>A Single submitter
c.925+52C>T Single submitter
c.925+53G>A Single submitter
c.925+53G>T Single submitter
c.925+54G>A Single submitter
c.925+57C>T Single submitter
c.925+60A>G Single submitter
c.925+62A>G Single submitter
c.925+63T>C Single submitter
c.925+64G>C Single submitter
c.925+67G>A Single submitter
c.925+67G>T Single submitter
c.925+69G>A Single submitter
c.925+70G>A Single submitter
c.925+78C>G Single submitter
c.925+84C>T Single submitter
c.925+9C>T Single submitter
c.926-47_926-38del Single submitter
c.926-48C>T Single submitter
c.926-51C>T Single submitter
c.926-53C>T Single submitter
c.926-57G>A Single submitter
c.926-58C>T Single submitter
c.926-60CCCGGCCCAC[3] Single submitter
c.926-64G>A Single submitter
c.926-71G>A Single submitter
c.926-73C>T Single submitter
c.926-76A>G Single submitter
c.926-79G>A Single submitter
c.926-80G>A Single submitter
c.926-81C>T Single submitter
c.926-82G>T Single submitter
c.926-83G>C Single submitter
c.-5A>T Single submitter
c.-7G>A Single submitter
p.Ala105= Single submitter
p.Ala17= Single submitter
p.Ala177= Single submitter
p.Ala214= Single submitter
p.Ala227= Single submitter
p.Ala233= Single submitter
p.Ala322= Single submitter
p.Ala378= Single submitter
p.Ala381= Single submitter
p.Ala397= Single submitter
p.Ala456= Single submitter
p.Ala466= Single submitter
p.Ala502= Single submitter
p.Ala540= Single submitter
p.Ala550= Single submitter
p.Arg218= Single submitter
p.Arg306= Single submitter
p.Arg353= Single submitter
p.Arg359= Single submitter
p.Arg475= Single submitter
p.Arg538= Single submitter
p.Arg568= Single submitter
p.Arg61= Single submitter
p.Arg67= Single submitter
p.Asn112= Single submitter
p.Asn164= Single submitter
p.Asn27= Single submitter
p.Asn299= Single submitter
p.Asn363= Single submitter
p.Asp16= Single submitter
p.Asp43= Single submitter
p.Cys289= Single submitter
p.Cys336= Single submitter
p.Gln133= Single submitter
p.Gln98= Single submitter
p.Glu221= Single submitter
p.Glu39= Single submitter
p.Gly191= Single submitter
p.Gly337= Single submitter
p.Gly352= Single submitter
p.Gly374= Single submitter
p.Gly40= Single submitter
p.Gly404= Single submitter
p.Gly423= Single submitter
p.Gly7= Single submitter
p.His195= Single submitter
p.Ile238= Single submitter
p.Leu100= Single submitter
p.Leu127= Single submitter
p.Leu207= Single submitter
p.Leu246= Single submitter
p.Leu249= Single submitter
p.Leu271= Single submitter
p.Leu327= Single submitter
p.Leu346= Single submitter
p.Leu350= Single submitter
p.Leu380= Single submitter
p.Leu410= Single submitter
p.Leu429= Single submitter
p.Leu448= Single submitter
p.Leu459= Single submitter
p.Leu492= Single submitter
p.Leu524= Single submitter
p.Leu527= Single submitter
p.Leu66= Single submitter
p.Lys23Arg Single submitter Inborn genetic diseases
p.Met259Thr Single submitter Inborn genetic diseases
p.Phe387= Single submitter
p.Pro13= Single submitter
p.Pro245= Single submitter
p.Pro303= Single submitter
p.Pro401= Single submitter
p.Pro436= Single submitter
p.Pro465= Single submitter
p.Pro472= Single submitter
p.Pro48= Single submitter
p.Ser102= Single submitter
p.Ser135= Single submitter
p.Ser190= Single submitter
p.Ser211= Single submitter
p.Ser269= Single submitter
p.Ser300= Single submitter
p.Ser348= Single submitter
p.Ser391= Single submitter
p.Thr213= Single submitter
p.Thr243= Single submitter
p.Thr243Met Single submitter
p.Thr296= Single submitter
p.Thr296Pro Single submitter Inborn genetic diseases
p.Thr396= Single submitter
p.Thr426= Single submitter
p.Thr481= Single submitter
p.Thr532= Single submitter
p.Tyr462= Single submitter
p.Val113= Single submitter
p.Val143= Single submitter
p.Val155Ala Single submitter Inborn genetic diseases
p.Val194= Single submitter
p.Val354= Single submitter
p.Val399= Single submitter
p.Val405= Single submitter
p.Val490Ala Single submitter Inborn genetic diseases
p.Val528Ile Single submitter Inborn genetic diseases
p.Val69= Single submitter
p.Val92= Single submitter
c.1093+22C>T No assertion criteria SLC34A3-related disorder
c.560+26C>G No assertion criteria SLC34A3-related disorder
c.560+35dup No assertion criteria SLC34A3-related disorder
c.560+37G>C No assertion criteria SLC34A3-related disorder
c.560+38T>G No assertion criteria SLC34A3-related disorder
c.560+40del No assertion criteria SLC34A3-related disorder
c.561-41G>A No assertion criteria SLC34A3-related disorder
c.561-46A>C No assertion criteria SLC34A3-related disorder
c.925+11_925+12insGC No assertion criteria SLC34A3-related disorder
c.925+21A>C No assertion criteria SLC34A3-related disorder
c.925+28T>C No assertion criteria SLC34A3-related disorder
c.925+29A>C No assertion criteria SLC34A3-related disorder
c.925+40A>C No assertion criteria SLC34A3-related disorder
c.925+42T>C No assertion criteria SLC34A3-related disorder
c.925+9dup No assertion criteria SLC34A3-related disorder
c.926-42A>C No assertion criteria SLC34A3-related disorder
p.Val522= No assertion criteria SLC34A3-related disorder

Uncertain significance 378

Showing the top 300 by review status; the full set is in the sitemap.

c.561-8G>A Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Ala193Val Multiple submitters Inborn genetic diseases ⚠
p.Ala212Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala235Val Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Ala266Thr Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Ala314Thr Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Ala355Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala364Val Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Ala381Val Multiple submitters ⚠
p.Ala383Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala397Val Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Ala413Val Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Ala437Thr Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Ala447Thr Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Ala482Ser Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Ala482Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala488Pro Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Ala502Val Multiple submitters Inborn genetic diseases ⚠
p.Ala509Glu Multiple submitters Inborn genetic diseases ⚠
p.Ala516Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala585Thr Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Ala96Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg182Gln Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Arg182Trp Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Arg187Lys Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Arg310Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg351His Multiple submitters Inborn genetic diseases ⚠
p.Arg353Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg412Gln Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Arg483Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg483His Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Arg536Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg536Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg537Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg538Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg538Trp Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Arg547Cys Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Arg564Cys Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Arg568His Multiple submitters Inborn genetic diseases ⚠
p.Arg61Cys Multiple submitters ⚠
p.Arg65_Gly71dup Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Arg67Cys Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Arg68Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg68Gly Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Arg68His Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Asn27Lys Multiple submitters Inborn genetic diseases ⚠
p.Asp107Gly Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Asp183Asn Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Asp365Asn Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Gln178Arg Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Glu22Lys Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Glu297Lys Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Glu513Gln Multiple submitters Inborn genetic diseases ⚠
p.Gly106Arg Multiple submitters ⚠
p.Gly166Arg Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Gly166Asp Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Gly277Ser Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Gly290Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly29Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly315Val Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Gly330Ser Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Gly384Ser Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Gly406Arg Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Gly423Ser Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Gly478Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly505Arg Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Gly518Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly523Arg Multiple submitters ⚠
p.Gly78Arg Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Gly7Ser Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Ile124Thr Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Ile342Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile422Val Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Leu131Val Multiple submitters Inborn genetic diseases ⚠
p.Leu246Val Multiple submitters Inborn genetic diseases ⚠
p.Leu332Pro Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Leu377Pro Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Leu418Val Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Leu47His Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Leu506His Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Leu527Phe Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Leu60_Leu66del Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Lys110Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys298del Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria
p.Met176Ile Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Phe395Leu Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Phe451Leu Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Pro13Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro245Leu Multiple submitters ⚠
p.Pro282Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro294Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro303Leu Multiple submitters ⚠
p.Pro470Arg Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Pro472Leu Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Pro539Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro553Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro578fs Multiple submitters Nephrolithiasis/nephrocalcinosis
p.Pro578Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser228Gly Multiple submitters Inborn genetic diseases ⚠
p.Ser261Gly Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Ser32Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser348Cys Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Ser442Gly Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Ser576Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr202Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr230Pro Multiple submitters Inborn genetic diseases ⚠
p.Thr267Pro Multiple submitters Inborn genetic diseases ⚠
p.Thr278Ala Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Thr316Met Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Thr319Met Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Thr396Met Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Tyr484His Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Val128Asp Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Val132Met Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Val142Met Multiple submitters Inborn genetic diseases ⚠
p.Val251Leu Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Val251Met Multiple submitters Inborn genetic diseases ⚠
p.Val340Ile Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Val354Met Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Val357Ile Multiple submitters Inborn genetic diseases ⚠
p.Val358Met Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Val379Ile Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Val400Leu Multiple submitters hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Val400Met Multiple submitters Inborn genetic diseases
p.Val574Ile Multiple submitters Inborn genetic diseases ⚠
p.Val62Met Multiple submitters Inborn genetic diseases ⚠
p.Val73Ile Multiple submitters Inborn genetic diseases ⚠
c.1093+11G>A Single submitter
c.1093+52_1094-4del Single submitter
c.1094-3C>A Single submitter
c.1210+4A>G Single submitter
c.1211-3C>A Single submitter hereditary hypophosphatemic rickets with hypercalciuria
c.1335+257T>G Single submitter
c.1336-1_1345del Single submitter
c.175+4G>A Single submitter
c.176-7T>G Single submitter hereditary hypophosphatemic rickets with hypercalciuria
c.176-9T>G Single submitter hereditary hypophosphatemic rickets with hypercalciuria
c.304+11G>C Single submitter hereditary hypophosphatemic rickets with hypercalciuria
c.304+5G>A Single submitter
c.305-8del Single submitter
c.560+22T>C Single submitter
c.560+4A>T Single submitter
c.755_756+23del Single submitter
c.757-3C>T Single submitter hereditary hypophosphatemic rickets with hypercalciuria
c.757-7C>G Single submitter
c.847-26T>C Single submitter hereditary hypophosphatemic rickets with hypercalciuria
c.847-45T>A Single submitter
c.925+6G>A Single submitter hereditary hypophosphatemic rickets with hypercalciuria
c.925+7C>T Single submitter
c.926-14_926-4del Single submitter hereditary hypophosphatemic rickets with hypercalciuria
c.926-2A>C Single submitter hereditary hypophosphatemic rickets with hypercalciuria
c.926-3C>T Single submitter
c.-18T>C Single submitter
c.-39-94C>T Single submitter
c.-40+71G>A Single submitter
c.-8C>G Single submitter
p.Ala105Ser Single submitter Inborn genetic diseases ⚠
p.Ala105Val Single submitter ⚠
p.Ala130Val Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Ala177Glu Single submitter ⚠
p.Ala17Thr Single submitter ⚠
p.Ala291Val Single submitter Inborn genetic diseases ⚠
p.Ala304Val Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Ala314Val Single submitter ⚠
p.Ala34Thr Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Ala381Glu Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Ala381Pro Single submitter Inborn genetic diseases ⚠
p.Ala381Thr Single submitter Inborn genetic diseases ⚠
p.Ala383Ser Single submitter Inborn genetic diseases ⚠
p.Ala443Gly Single submitter Inborn genetic diseases ⚠
p.Ala443Thr Single submitter ⚠
p.Ala443Val Single submitter ⚠
p.Ala456Gly Single submitter Inborn genetic diseases ⚠
p.Ala488Thr Single submitter Inborn genetic diseases ⚠
p.Ala509Ser Single submitter Inborn genetic diseases ⚠
p.Ala516Ser Single submitter Inborn genetic diseases ⚠
p.Ala580Ser Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Ala580Val Single submitter ⚠
p.Arg182Pro Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Arg218Trp Single submitter ⚠
p.Arg232Gly Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Arg351Cys Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Arg353His Single submitter Inborn genetic diseases ⚠
p.Arg468Gln Single submitter ⚠
p.Arg468Leu Single submitter ⚠
p.Arg545Cys Single submitter ⚠
p.Arg545His Single submitter Inborn genetic diseases ⚠
p.Arg547His Single submitter Inborn genetic diseases ⚠
p.Arg564His Single submitter Inborn genetic diseases ⚠
p.Arg568Ser Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Arg61His Single submitter ⚠
p.Arg61Pro Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Arg65Lys Single submitter ⚠
p.Arg67_Arg68insValAlaGlyArgLeuHis Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Arg67Leu Single submitter ⚠
p.Asn112Asp Single submitter ⚠
p.Asn112del Single submitter
p.Asn164Asp Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Asn164Ser Single submitter ⚠
p.Asn164Thr Single submitter ⚠
p.Asn454Ser Single submitter ⚠
p.Asn573fs Single submitter
p.Asn573Ser Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Asp107Tyr Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Asp181Glu Single submitter ⚠
p.Asp183His Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Asp254Asn Single submitter ⚠
p.Asp256Asn Single submitter Inborn genetic diseases ⚠
p.Asp365Tyr Single submitter
p.Asp438Asn Single submitter ⚠
p.Asp438His Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Asp91Tyr Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Cys336Arg Single submitter ⚠
p.Cys77Arg Single submitter Inborn genetic diseases ⚠
p.Gln356His Single submitter Inborn genetic diseases ⚠
p.Glu221_Leu222insGln Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Glu285Lys Single submitter Inborn genetic diseases ⚠
p.Glu38Gly Single submitter ⚠
p.Gly101Ser Single submitter Inborn genetic diseases ⚠
p.Gly101Val Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Gly106= Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Gly121Glu Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Gly162Asp Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Gly166= Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Gly264Val Single submitter Inborn genetic diseases ⚠
p.Gly277Asp Single submitter ⚠
p.Gly290Asp Single submitter Inborn genetic diseases ⚠
p.Gly290Val Single submitter ⚠
p.Gly29Arg Single submitter ⚠
p.Gly404Ala Single submitter retinitis pigmentosa 59 ⚠
p.Gly406Glu Single submitter Inborn genetic diseases ⚠
p.Gly40Arg Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Gly495_Leu499del Single submitter
p.Gly495Arg Single submitter ⚠
p.Gly505Glu Single submitter ⚠
p.Gly511= Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Gly519Asp Single submitter ⚠
p.Gly64Ser Single submitter Inborn genetic diseases ⚠
p.Gly71Cys Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Gly71Ser Single submitter Inborn genetic diseases ⚠
p.Gly7Arg Single submitter Inborn genetic diseases ⚠
p.Gly81Ser Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.His248Pro Single submitter Inborn genetic diseases ⚠
p.His311Gln Single submitter ⚠
p.His450Arg Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Ile124Val Single submitter Inborn genetic diseases ⚠
p.Ile141= Single submitter
p.Ile141Leu Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Ile272Val Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Ile326Val Single submitter Inborn genetic diseases ⚠
p.Ile342Thr Single submitter ⚠
p.Ile458Asn Single submitter ⚠
p.Leu100Pro Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Leu150= Single submitter
p.Leu173Val Single submitter Inborn genetic diseases ⚠
p.Leu209Met Single submitter Inborn genetic diseases ⚠
p.Leu239Phe Single submitter
p.Leu318Phe Single submitter ⚠
p.Leu318Pro Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Leu321Val Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Leu327Pro Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Leu335His Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Leu335Pro Single submitter ⚠
p.Leu341Val Single submitter Inborn genetic diseases ⚠
p.Leu350Pro Single submitter ⚠
p.Leu370Met Single submitter Inborn genetic diseases ⚠
p.Leu389Pro Single submitter ⚠
p.Leu402Phe Single submitter Inborn genetic diseases ⚠
p.Leu416Phe Single submitter Inborn genetic diseases
p.Leu416Pro Single submitter ⚠
p.Leu460= Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Leu463= Single submitter
p.Leu463Val Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Leu467Arg Single submitter ⚠
p.Leu499del Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Leu559Val Single submitter ⚠
p.Leu599Phe Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Leu60Phe Single submitter Inborn genetic diseases ⚠
p.Leu66Arg Single submitter ⚠
p.Lys110Arg Single submitter Inborn genetic diseases ⚠
p.Lys579Gln Single submitter ⚠
p.Met145Ile Single submitter Inborn genetic diseases ⚠
p.Met176Lys Single submitter ⚠
p.Met257Val Single submitter ⚠
p.Met403Ile Single submitter ⚠
p.Met403Thr Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Met403Val Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Met440Ile Single submitter ⚠
p.Phe313Leu Single submitter ⚠
p.Phe366Leu Single submitter hereditary hypophosphatemic rickets with hypercalciuria
p.Phe368Cys Single submitter Inborn genetic diseases ⚠
p.Phe395Ser Single submitter Inborn genetic diseases ⚠
p.Phe477Val Single submitter ⚠
p.Pro231Thr Single submitter Inborn genetic diseases ⚠
p.Pro294Gln Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Pro294Leu Single submitter ⚠
p.Pro2Arg Single submitter hereditary hypophosphatemic rickets with hypercalciuria ⚠
p.Pro2Leu Single submitter ⚠
p.Pro303Thr Single submitter ⚠
p.Pro369Ser Single submitter ⚠