CLCN5 — 577 ClinVar variants

All ClinVar germline CLCN5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 206 flagged for review →

74 Pathogenic · 7 Pathogenic/Likely pathogenic · 70 Likely pathogenic · 28 Conflicting · 31 Benign · 15 Benign/Likely benign · 91 Likely benign · 261 Uncertain significance

Full CLCN5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 206

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 agree, ClinVar conflicts 15

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

CLCN5 p.Arg309Cys Conflicting Single submitter
hypophosphatemic rickets, X-linked recessive
CLCN5 p.Arg415Trp Conflicting Single submitter
Dent disease type 1
CLCN5 p.Cys160Arg Conflicting Single submitter
CLCN5 p.Gln545His Conflicting Single submitter
hypophosphatemic rickets, X-linked recessive
CLCN5 p.Gly536Val Conflicting Single submitter
CLCN5 p.Gly583Glu Conflicting Single submitter
nephrolithiasis, X-linked recessive, with renal failure
CLCN5 p.Ile714Val Conflicting Single submitter
Dent disease type 1
CLCN5 p.Leu602Phe Conflicting Single submitter
CLCN5 p.Lys185Arg Conflicting Single submitter
Inborn genetic diseases
CLCN5 p.Ser198Arg Conflicting Single submitter
Inborn genetic diseases
CLCN5 p.Ser335Ile Conflicting Single submitter
hypophosphatemic rickets, X-linked recessive
CLCN5 p.Ser452Gly Conflicting Single submitter
CLCN5 p.Val214Ile Conflicting Single submitter
Inborn genetic diseases
CLCN5 p.Val492Met Conflicting Single submitter
Dent disease type 1
CLCN5 p.Val606Met Conflicting Single submitter
Inborn genetic diseases

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

CLCN5 p.Ser314Ter Conflicting Single submitter
Dent disease type 1

Predictors lean, ClinVar uncertain 136

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

CLCN5 p.Ala806Val Uncertain significance Multiple submitters
Inborn genetic diseases
CLCN5 p.Arg100Trp Uncertain significance Multiple submitters
proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
CLCN5 p.Arg363Cys Uncertain significance Multiple submitters
CLCN5 p.Arg372Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CLCN5 p.Arg659Trp Uncertain significance Multiple submitters
proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
CLCN5 p.Arg779Trp Uncertain significance Multiple submitters
CLCN5 p.Glu176Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CLCN5 p.Glu474Asp Uncertain significance Multiple submitters
Inborn genetic diseases
CLCN5 p.Glu734Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CLCN5 p.His150Asn Uncertain significance Multiple submitters
proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
CLCN5 p.Ile513Val Uncertain significance Multiple submitters
Inborn genetic diseases
CLCN5 p.Ile730Val Uncertain significance Multiple submitters
Inborn genetic diseases
CLCN5 p.Leu195Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CLCN5 p.Leu219Pro Uncertain significance Multiple submitters
Inborn genetic diseases
CLCN5 p.Lys111Arg Uncertain significance Multiple submitters
Dent disease type 1
CLCN5 p.Lys111Gln Uncertain significance Multiple submitters
nephrolithiasis, X-linked recessive, with renal failure
CLCN5 p.Pro489Leu Uncertain significance Multiple submitters
hypophosphatemic rickets, X-linked recessive
CLCN5 p.Pro741Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CLCN5 p.Pro741Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CLCN5 p.Ser496Gly Uncertain significance Multiple submitters
Dent disease type 1
CLCN5 p.Ser558Arg Uncertain significance Multiple submitters
CLCN5 p.Thr382Asn Uncertain significance Multiple submitters
nephrolithiasis, X-linked recessive, with renal failure
CLCN5 p.Val230Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CLCN5 p.Val769Ile Uncertain significance Multiple submitters
hypophosphatemic rickets, X-linked recessive
CLCN5 p.Ala116Thr Uncertain significance Single submitter
CLCN5 p.Ala271Val Uncertain significance Single submitter
Inborn genetic diseases
CLCN5 p.Ala288Thr Uncertain significance Single submitter
CLCN5 p.Ala317Glu Uncertain significance Single submitter
Dent disease type 1
CLCN5 p.Ala358Val Uncertain significance Single submitter
CLCN5 p.Ala535Gly Uncertain significance Single submitter
CLCN5 p.Ala577Val Uncertain significance Single submitter
Inborn genetic diseases
CLCN5 p.Ala630Asp Uncertain significance Single submitter
CLCN5 p.Ala806Gly Uncertain significance Single submitter
CLCN5 p.Arg363His Uncertain significance Single submitter
CLCN5 p.Arg372His Uncertain significance Single submitter
CLCN5 p.Arg448Gln Uncertain significance Single submitter
hypophosphatemic rickets, X-linked recessive
CLCN5 p.Arg448Trp Uncertain significance Single submitter
hypophosphatemic rickets, X-linked recessive
CLCN5 p.Arg476His Uncertain significance Single submitter
CLCN5 p.Arg624Gln Uncertain significance Single submitter
CLCN5 p.Arg633His Uncertain significance Single submitter
CLCN5 p.Arg659Gln Uncertain significance Single submitter
CLCN5 p.Arg696Gln Uncertain significance Single submitter
CLCN5 p.Arg718Gln Uncertain significance Single submitter
CLCN5 p.Arg774Gly Uncertain significance Single submitter
CLCN5 p.Arg779Gln Uncertain significance Single submitter
CLCN5 p.Asn108Ser Uncertain significance Single submitter
CLCN5 p.Asn174His Uncertain significance Single submitter
Inborn genetic diseases
CLCN5 p.Asn190Asp Uncertain significance Single submitter
Inborn genetic diseases
CLCN5 p.Asn366Ser Uncertain significance Single submitter
CLCN5 p.Asn475Asp Uncertain significance Single submitter
CLCN5 p.Asp771Gly Uncertain significance Single submitter
Inborn genetic diseases
CLCN5 p.Asp797Tyr Uncertain significance Single submitter
Dent disease type 1
CLCN5 p.Cys781Arg Uncertain significance Single submitter
CLCN5-related disorder
CLCN5 p.Gln562Arg Uncertain significance Single submitter
CLCN5 p.Glu112Ala Uncertain significance Single submitter
Inborn genetic diseases
CLCN5 p.Glu176Gly Uncertain significance Single submitter
CLCN5 p.Glu182Gln Uncertain significance Single submitter
CLCN5 p.Glu388Lys Uncertain significance Single submitter
CLCN5 p.Glu445Lys Uncertain significance Single submitter
hypophosphatemic rickets, X-linked recessive
CLCN5 p.Glu474Lys Uncertain significance Single submitter
nephrolithiasis, X-linked recessive, with renal failure
CLCN5 p.Glu552Lys Uncertain significance Single submitter
CLCN5 p.Glu625Lys Uncertain significance Single submitter
Inborn genetic diseases
CLCN5 p.Gly127Ser Uncertain significance Single submitter
CLCN5 p.Gly12Val Uncertain significance Single submitter
Inborn genetic diseases
CLCN5 p.Gly139Asp Uncertain significance Single submitter
hypophosphatemic rickets, X-linked recessive
CLCN5 p.Gly399Asp Uncertain significance Single submitter
CLCN5 p.Gly582Asp Uncertain significance Single submitter
Dent disease type 1
CLCN5 p.His150Arg Uncertain significance Single submitter
hypophosphatemic rickets, X-linked recessive
CLCN5 p.His150Gln Uncertain significance Single submitter
CLCN5 p.His735Tyr Uncertain significance Single submitter
CLCN5 p.Ile134Thr Uncertain significance Single submitter
CLCN5 p.Ile263Thr Uncertain significance Single submitter
Inborn genetic diseases
CLCN5 p.Ile428Leu Uncertain significance Single submitter
Inborn genetic diseases
CLCN5 p.Ile428Thr Uncertain significance Single submitter
CLCN5 p.Ile506Thr Uncertain significance Single submitter
Inborn genetic diseases
CLCN5 p.Ile711Val Uncertain significance Single submitter
CLCN5 p.Ile793Val Uncertain significance Single submitter
CLCN5 p.Ile802Val Uncertain significance Single submitter
Inborn genetic diseases
CLCN5 p.Ile813Val Uncertain significance Single submitter
CLCN5 p.Leu195Val Uncertain significance Single submitter
CLCN5 p.Leu219Ile Uncertain significance Single submitter
hypophosphatemic rickets, X-linked recessive
CLCN5 p.Leu223Arg Uncertain significance Single submitter
CLCN5 p.Leu270Pro Uncertain significance Single submitter
hypophosphatemic rickets, X-linked recessive
CLCN5 p.Leu295Arg Uncertain significance Single submitter
CLCN5 p.Leu701Phe Uncertain significance Single submitter
Inborn genetic diseases
CLCN5 p.Leu701Pro Uncertain significance Single submitter
CLCN5 p.Leu710Arg Uncertain significance Single submitter
Dent disease type 1
CLCN5 p.Lys109Arg Uncertain significance Single submitter
CLCN5 p.Lys481Arg Uncertain significance Single submitter
CLCN5 p.Met653Thr Uncertain significance Single submitter
CLCN5 p.Phe211Leu Uncertain significance Single submitter
hypophosphatemic rickets, X-linked recessive
CLCN5 p.Phe343Leu Uncertain significance Single submitter
CLCN5 p.Phe368Ser Uncertain significance Single submitter
Inborn genetic diseases
CLCN5 p.Phe380Tyr Uncertain significance Single submitter
CLCN5 p.Phe442Leu Uncertain significance Single submitter
CLCN5 p.Phe459Leu Uncertain significance Single submitter
hypophosphatemic rickets, X-linked recessive
CLCN5 p.Phe556Leu Uncertain significance Single submitter
CLCN5 p.Phe639Leu Uncertain significance Single submitter
CLCN5 p.Phe732Val Uncertain significance Single submitter
CLCN5 p.Phe87Leu Uncertain significance Single submitter
CLCN5 p.Pro569Ser Uncertain significance Single submitter
Inborn genetic diseases
CLCN5 p.Pro745Arg Uncertain significance Single submitter
CLCN5 p.Pro765His Uncertain significance Single submitter
Inborn genetic diseases
CLCN5 p.Ser248Asn Uncertain significance Single submitter
CLCN5 p.Ser322Phe Uncertain significance Single submitter
CLCN5 p.Ser340Gly Uncertain significance Single submitter
CLCN5 p.Ser450Asn Uncertain significance Single submitter
hypophosphatemic rickets, X-linked recessive
CLCN5 p.Thr107Ile Uncertain significance Single submitter
CLCN5 p.Thr199Arg Uncertain significance Single submitter
hypophosphatemic rickets, X-linked recessive
CLCN5 p.Thr409Ala Uncertain significance Single submitter
Inborn genetic diseases
CLCN5 p.Thr599Pro Uncertain significance Single submitter
CLCN5 p.Thr666Ala Uncertain significance Single submitter
CLCN5 p.Thr733Ala Uncertain significance Single submitter
nephrolithiasis, X-linked recessive, with renal failure
CLCN5 p.Thr784Ile Uncertain significance Single submitter
Inborn genetic diseases
CLCN5 p.Trp128Leu Uncertain significance Single submitter
CLCN5 p.Trp384Arg Uncertain significance Single submitter
Dent disease type 1
CLCN5 p.Trp499Arg Uncertain significance Single submitter
nephrolithiasis, X-linked recessive, with renal failure
CLCN5 p.Trp92Cys Uncertain significance Single submitter
CLCN5 p.Tyr206Cys Uncertain significance Single submitter
CLCN5 p.Tyr255Cys Uncertain significance Single submitter
CLCN5 p.Tyr425Cys Uncertain significance Single submitter
CLCN5 p.Tyr548Cys Uncertain significance Single submitter
CLCN5 p.Tyr572Cys Uncertain significance Single submitter
CLCN5-related disorder
CLCN5 p.Val228Leu Uncertain significance Single submitter
CLCN5 p.Val230Glu Uncertain significance Single submitter
Inborn genetic diseases
CLCN5 p.Val285Leu Uncertain significance Single submitter
CLCN5 p.Val312Ala Uncertain significance Single submitter
CLCN5 p.Val390Met Uncertain significance Single submitter
Inborn genetic diseases
CLCN5 p.Val432Ile Uncertain significance Single submitter
CLCN5 p.Val675Met Uncertain significance Single submitter
hypophosphatemic rickets, X-linked recessive
CLCN5 p.Val692Met Uncertain significance Single submitter
CLCN5 p.Ala221Pro Uncertain significance No assertion criteria
CLCN5-related disorder
CLCN5 p.Arg51Gln Uncertain significance No assertion criteria
nephrolithiasis, X-linked recessive, with renal failure
CLCN5 p.Asp662Asn Uncertain significance No assertion criteria
CLCN5 p.Asp754Gly Uncertain significance No assertion criteria
CLCN5 p.Thr680Ser Uncertain significance No assertion criteria
CLCN5-related disorder

Predictors split 54

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

CLCN5 p.Ala319Val Uncertain significance Multiple submitters
Inborn genetic diseases
CLCN5 p.Arg100Gln Uncertain significance Multiple submitters
proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
CLCN5 p.Arg408Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CLCN5 p.Arg415Gln Benign/Likely benign Multiple submitters
CLCN5 p.Arg415Leu Uncertain significance Multiple submitters
Dent disease type 1
CLCN5 p.Arg696Trp Uncertain significance Multiple submitters
Inborn genetic diseases
CLCN5 p.Arg750Gln Uncertain significance Multiple submitters
proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
CLCN5 p.Arg774Gln Uncertain significance Multiple submitters
CLCN5 p.Asn635Ser Uncertain significance Multiple submitters
CLCN5-related disorder
CLCN5 p.Cys781Ser Uncertain significance Multiple submitters
proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
CLCN5 p.Gly723Ala Uncertain significance Multiple submitters
CLCN5 p.His648Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
CLCN5 p.Ile397Met Uncertain significance Multiple submitters
Dent disease type 1
CLCN5 p.Pro521Ser Uncertain significance Multiple submitters
nephrolithiasis, X-linked recessive, with renal failure
CLCN5 p.Pro765Ser Uncertain significance Multiple submitters
hypophosphatemic rickets, X-linked recessive
CLCN5 p.Thr733Met Uncertain significance Multiple submitters
nephrolithiasis, X-linked recessive, with renal failure
CLCN5 p.Val287Met Uncertain significance Multiple submitters
CLCN5 p.Val433Met Likely benign Multiple submitters
hypophosphatemic rickets, X-linked recessive
CLCN5 p.Ala316Ser Uncertain significance Single submitter
CLCN5 p.Ala610Thr Uncertain significance Single submitter
CLCN5 p.Arg104Gln Uncertain significance Single submitter
CLCN5 p.Arg309His Conflicting Single submitter
nephrolithiasis, X-linked recessive, with renal failure
CLCN5 p.Arg624Trp Uncertain significance Single submitter
CLCN5 p.Arg633Cys Uncertain significance Single submitter
CLCN5 p.Arg98Gln Uncertain significance Single submitter
hypophosphatemic rickets, X-linked recessive
CLCN5 p.Asn209His Uncertain significance Single submitter
CLCN5 p.Asn370Asp Uncertain significance Single submitter
CLCN5 p.Asn444Ser Conflicting Single submitter
Inborn genetic diseases
CLCN5 p.Asp565Tyr Uncertain significance Single submitter
CLCN5 p.Asp72Ala Uncertain significance Single submitter
CLCN5 p.Cys560Tyr Uncertain significance Single submitter
CLCN5-related disorder
CLCN5 p.Glu169Val Uncertain significance Single submitter
CLCN5 p.Glu201Val Uncertain significance Single submitter
Dent disease type 1
CLCN5 p.Glu697Gly Uncertain significance Single submitter
hypophosphatemic rickets, X-linked recessive
CLCN5 p.Gly369Glu Uncertain significance Single submitter
Inborn genetic diseases
CLCN5 p.His381Tyr Uncertain significance Single submitter
CLCN5 p.His385Arg Uncertain significance Single submitter
Inborn genetic diseases
CLCN5 p.Ile329Val Uncertain significance Single submitter
CLCN5 p.Leu223Phe Uncertain significance Single submitter
Inborn genetic diseases
CLCN5 p.Leu470Phe Uncertain significance Single submitter
CLCN5 p.Met543Thr Uncertain significance Single submitter
Dent disease type 1
CLCN5 p.Met766Val Uncertain significance Single submitter
CLCN5 p.Phe166Ser Uncertain significance Single submitter
Dent disease type 1
CLCN5 p.Ser110Asn Uncertain significance Single submitter
CLCN5 p.Ser175Cys Uncertain significance Single submitter
CLCN5 p.Ser371Thr Uncertain significance Single submitter
CLCN5 p.Ser756Gly Uncertain significance Single submitter
Inborn genetic diseases
CLCN5 p.Thr669Ile Uncertain significance Single submitter
CLCN5 p.Val225Ile Conflicting Single submitter
Inborn genetic diseases
CLCN5 p.Val321Ile Uncertain significance Single submitter
Dent disease type 1
CLCN5 p.Val575Ile Uncertain significance Single submitter
hypophosphatemic rickets, X-linked recessive
CLCN5 p.Ala354Val Uncertain significance No assertion criteria
Dent disease type 1
CLCN5 p.Asp461Ala Uncertain significance No assertion criteria
CLCN5 p.Asp466His Pathogenic No assertion criteria
Dent disease type 1

All CLCN5 variants

Pathogenic 74

p.Arg417Ter Multiple submitters Dent disease type 1
p.Arg537Ter Multiple submitters CLCN5-related disorder
p.Arg707Ter Multiple submitters CLCN5-related disorder
p.Arg718Ter Multiple submitters CLCN5-related disorder
p.Arg788Ter Multiple submitters proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
p.Asn444fs Multiple submitters Dent disease type 1
p.Cys462fs Multiple submitters Dent disease type 1
p.Gly282fs Multiple submitters
p.Ser110fs Multiple submitters Inborn genetic diseases
p.Ser314Leu Multiple submitters CLCN5-related disorder
p.Val593del Multiple submitters
c.1557+1G>A Single submitter Dent disease type 1
c.1557+1G>T Single submitter Dent disease type 1
c.2360+1G>A Single submitter Dent disease type 1
c.2360+1G>T Single submitter
c.316-2A>T Single submitter
c.603+1G>A Single submitter CLCN5-related disorder
c.603+1G>T Single submitter hypophosphatemic rickets, X-linked recessive
c.726+1G>A Single submitter
c.727-7_933+3del Single submitter Dent disease type 1
p.Ala224fs Single submitter Dent disease type 1
p.Ala324fs Single submitter Inborn genetic diseases
p.Asn174_Ser175insTer Single submitter
p.Asn751fs Single submitter proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
p.Cys471_Asp472delinsTer Single submitter
p.Gln699Ter Single submitter
p.Glu112Ter Single submitter proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
p.Glu337Lys Single submitter
p.Glu338Ter Single submitter Dent disease type 1
p.Glu484fs Single submitter Dent disease type 1
p.Glu697fs Single submitter
p.Gly163fs Single submitter
p.Gly583_Val584insTer Single submitter
p.Gly600Val Single submitter hypophosphatemic rickets, X-linked recessive
p.Ile365fs Single submitter
p.Leu348Ter Single submitter
p.Lys156fs Single submitter
p.Lys301_Tyr302insTer Single submitter Dent disease type 1
p.Lys481Ter Single submitter Dent disease type 1
p.Phe376_Tyr377insTer Single submitter
p.Phe392fs Single submitter Dent disease type 1
p.Phe459fs Single submitter Inborn genetic diseases
p.Phe525fs Single submitter Dent disease type 1
p.Ser126fs Single submitter hypophosphatemic rickets, X-linked recessive
p.Ser335fs Single submitter
p.Thr746fs Single submitter Dent disease type 1
p.Trp115fs Single submitter hypophosphatemic rickets, X-linked recessive
p.Trp115Ter Single submitter Dent disease type 1
p.Trp192Ter Single submitter Dent disease type 1
p.Trp384Ter Single submitter CLCN5-related disorder
p.Trp413Ter Single submitter nephrolithiasis, X-linked recessive, with renal failure
p.Tyr255Ter Single submitter Dent disease type 1
p.Tyr637Ter Single submitter
p.Val494fs Single submitter
p.Val692fs Single submitter Dent disease type 1
c.415+1G>A No assertion criteria
c.604-2A>G No assertion criteria nephrotic syndrome
c.933+2T>C No assertion criteria Dent disease type 1
p.Arg350Pro No assertion criteria proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
p.Asp466His No assertion criteria Dent disease type 1 ⚠
p.Cys160fs No assertion criteria Dent disease type 1
p.Gly127Val No assertion criteria nephrolithiasis, X-linked recessive, with renal failure
p.Gly326Arg No assertion criteria Dent disease type 1
p.Gly330Val No assertion criteria Dent disease type 1
p.Gly576Glu No assertion criteria nephrolithiasis, X-linked recessive, with renal failure
p.Leu270Arg No assertion criteria Dent disease type 1
p.Leu591fs No assertion criteria Dent disease type 1
p.Met766fs No assertion criteria proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
p.Ser590fs No assertion criteria Dent disease type 1
p.Ser590Pro No assertion criteria Dent disease type 1
p.Trp349Ter No assertion criteria Dent disease type 1
p.Trp617Cys No assertion criteria Dent disease type 1
p.Tyr604Asn No assertion criteria Dent disease type 1
p.Val798fs No assertion criteria Dent disease type 1

Pathogenic/Likely pathogenic 7

c.1014+1G>A Multiple submitters nephrolithiasis, X-linked recessive, with renal failure
c.933+1G>A Multiple submitters Dent disease type 1
p.Arg104Ter Multiple submitters proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
p.Arg586Trp Multiple submitters nephrolithiasis, X-linked recessive, with renal failure
p.Arg98Ter Multiple submitters CLCN5-related disorder
p.Tyr342Cys Multiple submitters CLCN5-related disorder
p.Tyr425Ter Multiple submitters hypophosphatemic rickets, X-linked recessive

Likely pathogenic 70

c.604-1G>C Multiple submitters Dent disease type 1
p.Cys291Arg Multiple submitters hypophosphatemic rickets, X-linked recessive
p.Gln421Ter Multiple submitters CLCN5-related disorder
p.Gln545Ter Multiple submitters proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
p.Ser615Asn Multiple submitters CLCN5-related disorder
p.Tyr687Ter Multiple submitters Dent disease type 1
c.1015-1G>A Single submitter
c.1015-2A>T Single submitter CLCN5-related disorder
c.1558-2A>G Single submitter Dent disease
c.1744+1G>C Single submitter hypophosphatemic rickets, X-linked recessive
c.1745-1G>A Single submitter
c.2143_2143+10del Single submitter
c.2144-2A>G Single submitter Dent disease type 1
c.2361-1G>C Single submitter CLCN5-related disorder
c.315+1G>A Single submitter
c.416-1G>A Single submitter hypophosphatemic rickets, X-linked recessive
c.416-1G>C Single submitter
p.Ala116_Leu117insTer Single submitter hypophosphatemic rickets, X-linked recessive
p.Ala203fs Single submitter CLCN5-related disorder
p.Ala535Ter Single submitter hypophosphatemic rickets, X-linked recessive
p.Arg624fs Single submitter Dent disease type 1
p.Arg659fs Single submitter hypophosphatemic rickets, X-linked recessive
p.Asp762fs Single submitter
p.Glu105= Single submitter Dent disease type 1
p.Glu169Ter Single submitter Dent disease type 1
p.Glu597Ala Single submitter hypophosphatemic rickets, X-linked recessive
p.Glu597Ter Single submitter Dent disease type 1
p.Glu645Ter Single submitter CLCN5-related disorder
p.Gly127Arg Single submitter Dent disease type 1
p.Gly249Val Single submitter Dent disease type 1
p.Gly483fs Single submitter proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
p.Gly517_Met518insTer Single submitter Hyperkalemia
p.Gly532Asp Single submitter hypophosphatemic rickets, X-linked recessive
p.Gly576Arg Single submitter
p.Gly582Val Single submitter CLCN5-related disorder
p.Gly703Asp Single submitter Dent disease type 1
p.Leu333Phe Single submitter proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
p.Leu386_Phe387insTer Single submitter CLCN5-related disorder
p.Leu507fs Single submitter Dent disease type 1
p.Leu539Arg Single submitter hypophosphatemic rickets, X-linked recessive
p.Leu591Phe Single submitter CLCN5-related disorder
p.Leu763fs Single submitter CLCN5-related disorder
p.Lys111fs Single submitter Dent disease type 1
p.Lys258Ter Single submitter hypophosphatemic rickets, X-linked recessive
p.Lys301Arg Single submitter CLCN5-related disorder
p.Lys301Ile Single submitter Dent disease type 1
p.Phe380fs Single submitter hypophosphatemic rickets, X-linked recessive
p.Phe646fs Single submitter CLCN5-related disorder
p.Pro527fs Single submitter Dent disease type 1
p.Pro607Arg Single submitter hypophosphatemic rickets, X-linked recessive
p.Ser335Asn Single submitter CLCN5-related disorder
p.Ser351Ter Single submitter hypophosphatemic rickets, X-linked recessive
p.Ser522fs Single submitter hypophosphatemic rickets, X-linked recessive
p.Ser528fs Single submitter CLCN5-related disorder
p.Thr599Ile Single submitter
p.Thr764fs Single submitter hypophosphatemic rickets, X-linked recessive
p.Trp189Ter Single submitter hypophosphatemic rickets, X-linked recessive
p.Trp259Ter Single submitter Dent disease type 1
p.Trp553Ter Single submitter hypophosphatemic rickets, X-linked recessive
p.Trp559Ter Single submitter Dent disease type 1
p.Tyr495Ter Single submitter hypophosphatemic rickets, X-linked recessive
p.Tyr548Ter Single submitter CLCN5-related disorder
p.Val589fs Single submitter Dent disease type 1
p.Val93fs Single submitter hypophosphatemic rickets, X-linked recessive
c.2360+2T>G No assertion criteria CLCN5-related disorder
c.416-2A>G No assertion criteria CLCN5-related disorder
p.Ala577fs No assertion criteria Dent disease type 1
p.Leu706Phe No assertion criteria
p.Trp128Cys No assertion criteria Dent disease type 1
p.Trp192Arg No assertion criteria Hypophosphataemia, X-linked

Conflicting classifications of pathogenicity 28

c.603+6_603+7del Single submitter
c.*6240G>C Single submitter Dent disease type 1
p.Ala232= Single submitter Dent disease type 1
p.Arg309Cys Single submitter hypophosphatemic rickets, X-linked recessive ⚠
p.Arg309His Single submitter nephrolithiasis, X-linked recessive, with renal failure ⚠
p.Arg415Trp Single submitter Dent disease type 1 ⚠
p.Arg476Cys Single submitter proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
p.Arg624= Single submitter Dent disease type 1
p.Arg774Ter Single submitter Dent disease type 1
p.Asn444Ser Single submitter Inborn genetic diseases ⚠
p.Cys160Arg Single submitter ⚠
p.Gln545His Single submitter hypophosphatemic rickets, X-linked recessive ⚠
p.Glu169= Single submitter
p.Gly536Val Single submitter ⚠
p.Gly583Glu Single submitter nephrolithiasis, X-linked recessive, with renal failure ⚠
p.Ile714Val Single submitter Dent disease type 1 ⚠
p.Leu602Phe Single submitter ⚠
p.Lys185Arg Single submitter Inborn genetic diseases ⚠
p.Ser198Arg Single submitter Inborn genetic diseases ⚠
p.Ser314Ter Single submitter Dent disease type 1 ⚠
p.Ser335Ile Single submitter hypophosphatemic rickets, X-linked recessive ⚠
p.Ser452Gly Single submitter ⚠
p.Thr114= Single submitter hypophosphatemic rickets, X-linked recessive
p.Thr733= Single submitter
p.Val214Ile Single submitter Inborn genetic diseases ⚠
p.Val225Ile Single submitter Inborn genetic diseases ⚠
p.Val492Met Single submitter Dent disease type 1 ⚠
p.Val606Met Single submitter Inborn genetic diseases ⚠

Benign 31

c.1558-14G>C Multiple submitters
c.164-252C>G Multiple submitters
c.2144-60G>A Multiple submitters
c.416-6A>T Multiple submitters Dent disease type 1
p.Gly491= Multiple submitters Dent disease type 1
p.Leu401= Multiple submitters Dent disease type 1
p.Pro638= Multiple submitters
p.Ser314= Multiple submitters Dent disease type 1
p.Thr36= Multiple submitters
c.1557+77A>G Single submitter
c.1744+216CT[3] Single submitter
c.2144-16C>T Single submitter
c.2144-17_2144-16insA Single submitter
c.2361-154G>C Single submitter
c.2361-238C>T Single submitter
c.316-201dup Single submitter
c.416-152A>G Single submitter
c.603+242A>G Single submitter
c.*1447T>G Single submitter Dent disease type 1
c.*1735T>C Single submitter Dent disease type 1
c.*2860T>C Single submitter
c.*3409A>G Single submitter Dent disease type 1
c.*4192C>T Single submitter Dent disease type 1
c.*4692C>T Single submitter Dent disease type 1
c.*5140A>G Single submitter Dent disease type 1
c.*5144C>T Single submitter Dent disease type 1
c.*559A>G Single submitter Dent disease type 1
c.*6372T>C Single submitter Dent disease type 1
c.*6538G>A Single submitter Dent disease type 1
c.*6955C>G Single submitter Dent disease type 1
p.Arg586= Single submitter

Benign/Likely benign 15

c.2361-18A>G Multiple submitters Dent disease type 1
c.315+12G>A Multiple submitters nephrolithiasis, X-linked recessive, with renal failure
c.316-17T>G Multiple submitters Bethlem myopathy 1A
c.727-5T>C Multiple submitters
p.Arg408His Multiple submitters hypophosphatemic rickets, X-linked recessive
p.Arg415Gln Multiple submitters ⚠
p.Glu474= Multiple submitters hypophosphatemic rickets, X-linked recessive
p.His150= Multiple submitters
p.Met212Ile Multiple submitters Dent disease type 1
p.Ser273= Multiple submitters Dent disease type 1
p.Ser496= Multiple submitters Dent disease type 1
p.Thr419= Multiple submitters hypophosphatemic rickets, X-linked recessive
p.Thr554= Multiple submitters
p.Thr650= Multiple submitters
p.Thr669= Multiple submitters

Likely benign 91

c.1745-5T>C Multiple submitters
c.2361-67C>T Multiple submitters
p.Asn786= Multiple submitters
p.Gly723= Multiple submitters
p.Ile266Val Multiple submitters proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
p.Ile627= Multiple submitters
p.Ile78Val Multiple submitters Inborn genetic diseases
p.Leu395= Multiple submitters hypophosphatemic rickets, X-linked recessive
p.Leu701= Multiple submitters
p.Ser364= Multiple submitters
p.Thr451= Multiple submitters
p.Val433Met Multiple submitters hypophosphatemic rickets, X-linked recessive ⚠
p.Val555Ile Multiple submitters Inborn genetic diseases
c.1014+20C>T Single submitter
c.1015-7C>G Single submitter
c.1557+11C>G Single submitter
c.1557+9T>C Single submitter
c.1558-4G>A Single submitter
c.164-116C>A Single submitter
c.164-2333T>G Single submitter
c.17-55G>A Single submitter
c.1744+16A>G Single submitter
c.1745-159G>A Single submitter
c.1745-16G>A Single submitter
c.2143+14A>G Single submitter
c.2143+7A>G Single submitter
c.2360+11T>C Single submitter
c.2361-13G>T Single submitter
c.315+15G>A Single submitter
c.315+19C>T Single submitter
c.315+19dup Single submitter
c.315+20A>G Single submitter
c.316-294G>T Single submitter
c.415+12T>C Single submitter
c.415+7T>C Single submitter
c.416-16C>T Single submitter
c.416-18T>C Single submitter
c.604-15T>C Single submitter
c.604-19C>G Single submitter
c.604-8T>C Single submitter
c.726+18G>A Single submitter
c.933+10A>T Single submitter
c.933+9G>C Single submitter
c.933+9G>T Single submitter
c.934-18C>G Single submitter
c.934-19T>C Single submitter
c.*869A>G Single submitter
p.Ala205= Single submitter
p.Ala502= Single submitter
p.Ala533= Single submitter
p.Ala564= Single submitter
p.Arg183= Single submitter
p.Arg303= Single submitter
p.Arg408= Single submitter
p.Asn635= Single submitter
p.Asn807= Single submitter
p.Asp32Gly Single submitter
p.Asp797Val Single submitter hypophosphatemic rickets, X-linked recessive
p.Asp91= Single submitter
p.Gln699= Single submitter
p.Gly623= Single submitter
p.Ile147= Single submitter
p.Ile246= Single submitter
p.Ile605= Single submitter
p.Leu219= Single submitter
p.Leu270= Single submitter
p.Leu348= Single submitter
p.Leu362= Single submitter
p.Leu389= Single submitter
p.Leu431= Single submitter
p.Leu485= Single submitter
p.Leu602= Single submitter
p.Leu668= Single submitter
p.Lys156= Single submitter
p.Lys424= Single submitter
p.Phe596= Single submitter
p.Phe732= Single submitter
p.Pro283= Single submitter
p.Pro489= Single submitter
p.Pro569= Single submitter
p.Ser126= Single submitter
p.Ser140= Single submitter
p.Ser58= Single submitter
p.Thr347= Single submitter
p.Thr434= Single submitter
p.Tyr206= Single submitter
p.Tyr473= Single submitter
p.Val230= Single submitter
p.Val285= Single submitter
p.Val432= Single submitter
p.Val618Met Single submitter

Uncertain significance 261

c.1557+6G>A Multiple submitters
p.Ala319Val Multiple submitters Inborn genetic diseases ⚠
p.Ala806Val Multiple submitters Inborn genetic diseases ⚠
p.Arg100Gln Multiple submitters proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis ⚠
p.Arg100Trp Multiple submitters proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis ⚠
p.Arg363Cys Multiple submitters ⚠
p.Arg372Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg408Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg415Leu Multiple submitters Dent disease type 1 ⚠
p.Arg659Trp Multiple submitters proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis ⚠
p.Arg696Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg750Gln Multiple submitters proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis ⚠
p.Arg774Gln Multiple submitters ⚠
p.Arg779Trp Multiple submitters ⚠
p.Asn635Ser Multiple submitters CLCN5-related disorder ⚠
p.Cys781Ser Multiple submitters proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis ⚠
p.Glu176Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu474Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu734Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly723Ala Multiple submitters ⚠
p.His150Asn Multiple submitters proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis ⚠
p.His648Tyr Multiple submitters Inborn genetic diseases ⚠
p.Ile397Met Multiple submitters Dent disease type 1 ⚠
p.Ile513Val Multiple submitters Inborn genetic diseases ⚠
p.Ile730Val Multiple submitters Inborn genetic diseases ⚠
p.Leu195Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu219Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu465Arg Multiple submitters Inborn genetic diseases
p.Lys111Arg Multiple submitters Dent disease type 1 ⚠
p.Lys111Gln Multiple submitters nephrolithiasis, X-linked recessive, with renal failure ⚠
p.Pro489Leu Multiple submitters hypophosphatemic rickets, X-linked recessive ⚠
p.Pro521Ser Multiple submitters nephrolithiasis, X-linked recessive, with renal failure ⚠
p.Pro741Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro741Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro765Ser Multiple submitters hypophosphatemic rickets, X-linked recessive ⚠
p.Ser496Gly Multiple submitters Dent disease type 1 ⚠
p.Ser558Arg Multiple submitters ⚠
p.Thr382Asn Multiple submitters nephrolithiasis, X-linked recessive, with renal failure ⚠
p.Thr733Met Multiple submitters nephrolithiasis, X-linked recessive, with renal failure ⚠
p.Val230Leu Multiple submitters Inborn genetic diseases ⚠
p.Val287Met Multiple submitters ⚠
p.Val769Ile Multiple submitters hypophosphatemic rickets, X-linked recessive ⚠
c.1014+3A>T Single submitter hypophosphatemic rickets, X-linked recessive
c.164-2118G>T Single submitter
c.164-2130C>T Single submitter Dent disease type 1
c.164-2249C>T Single submitter Dent disease type 1
c.164-2276G>A Single submitter Dent disease type 1
c.17-11T>G Single submitter
c.1744+16A>T Single submitter hypophosphatemic rickets, X-linked recessive
c.2361-2A>T Single submitter
c.2361-3T>G Single submitter
c.315+4del Single submitter
c.933+6A>G Single submitter
c.*1292C>T Single submitter Dent disease type 1
c.*1339A>G Single submitter Dent disease type 1
c.*1625C>T Single submitter Dent disease type 1
c.*1868T>C Single submitter Dent disease type 1
c.*1874G>A Single submitter Dent disease type 1
c.*1887G>C Single submitter Dent disease type 1
c.*1938G>A Single submitter Dent disease type 1
c.*2270A>G Single submitter Dent disease type 1
c.*2317G>A Single submitter Dent disease type 1
c.*2324G>A Single submitter Dent disease type 1
c.*2384A>C Single submitter Dent disease type 1
c.*2460G>A Single submitter Dent disease type 1
c.*2479G>A Single submitter Dent disease type 1
c.*2557A>G Single submitter Dent disease type 1
c.*2849C>T Single submitter Dent disease type 1
c.*2980A>G Single submitter Dent disease type 1
c.*3071A>G Single submitter Dent disease type 1
c.*3090C>T Single submitter Dent disease type 1
c.*3091G>A Single submitter Dent disease type 1
c.*3388T>G Single submitter Dent disease type 1
c.*3495A>G Single submitter Dent disease type 1
c.*3627C>T Single submitter Dent disease type 1
c.*379G>C Single submitter Dent disease type 1
c.*3912C>T Single submitter Dent disease type 1
c.*3937C>A Single submitter Dent disease type 1
c.*3957C>G Single submitter Dent disease type 1
c.*39C>T Single submitter Dent disease type 1
c.*4034A>T Single submitter Dent disease type 1
c.*4297A>C Single submitter Dent disease type 1
c.*4606A>C Single submitter Dent disease type 1
c.*4740C>G Single submitter Dent disease type 1
c.*477G>A Single submitter Dent disease type 1
c.*4911G>A Single submitter Dent disease type 1
c.*504G>C Single submitter Dent disease type 1
c.*5088G>T Single submitter Dent disease type 1
c.*5240T>C Single submitter Dent disease type 1
c.*5340A>C Single submitter Dent disease type 1
c.*5377G>A Single submitter Dent disease type 1
c.*5815T>C Single submitter Dent disease type 1
c.*5844C>T Single submitter Dent disease type 1
c.*5895T>A Single submitter Dent disease type 1
c.*5970C>T Single submitter Dent disease type 1
c.*6163T>C Single submitter Dent disease type 1
c.*6217G>A Single submitter Dent disease type 1
c.*6482C>T Single submitter Dent disease type 1
c.*6608C>T Single submitter Dent disease type 1
c.*6638G>A Single submitter Dent disease type 1
c.*6694C>T Single submitter Dent disease type 1
c.*6841T>C Single submitter Dent disease type 1
c.*866A>G Single submitter Dent disease type 1
c.*969A>G Single submitter Dent disease type 1
p.Ala116Thr Single submitter ⚠
p.Ala271Val Single submitter Inborn genetic diseases ⚠
p.Ala288Thr Single submitter ⚠
p.Ala316Ser Single submitter ⚠
p.Ala317Glu Single submitter Dent disease type 1 ⚠
p.Ala358Val Single submitter ⚠
p.Ala535Gly Single submitter ⚠
p.Ala577Val Single submitter Inborn genetic diseases ⚠
p.Ala610Gly Single submitter
p.Ala610Thr Single submitter ⚠
p.Ala630Asp Single submitter ⚠
p.Ala806Gly Single submitter ⚠
p.Arg104Gln Single submitter ⚠
p.Arg363His Single submitter ⚠
p.Arg372His Single submitter ⚠
p.Arg448Gln Single submitter hypophosphatemic rickets, X-linked recessive ⚠
p.Arg448Trp Single submitter hypophosphatemic rickets, X-linked recessive ⚠
p.Arg476His Single submitter ⚠
p.Arg624Gln Single submitter ⚠
p.Arg624Trp Single submitter ⚠
p.Arg633Cys Single submitter ⚠
p.Arg633His Single submitter ⚠
p.Arg659Gln Single submitter ⚠
p.Arg696= Single submitter
p.Arg696Gln Single submitter ⚠
p.Arg718Gln Single submitter ⚠
p.Arg774Gly Single submitter ⚠
p.Arg779Gln Single submitter ⚠
p.Arg98Gln Single submitter hypophosphatemic rickets, X-linked recessive ⚠
p.Asn108Ser Single submitter ⚠
p.Asn174His Single submitter Inborn genetic diseases ⚠
p.Asn190Asp Single submitter Inborn genetic diseases ⚠
p.Asn209His Single submitter ⚠
p.Asn366Ser Single submitter ⚠
p.Asn370Asp Single submitter ⚠
p.Asn475Asp Single submitter ⚠
p.Asp565Tyr Single submitter ⚠
p.Asp72Ala Single submitter ⚠
p.Asp771Gly Single submitter Inborn genetic diseases ⚠
p.Asp797Tyr Single submitter Dent disease type 1 ⚠
p.Cys560Tyr Single submitter CLCN5-related disorder ⚠
p.Cys781Arg Single submitter CLCN5-related disorder ⚠
p.Gln562Arg Single submitter ⚠
p.Glu112Ala Single submitter Inborn genetic diseases ⚠
p.Glu169Val Single submitter ⚠
p.Glu176Gly Single submitter ⚠
p.Glu182Gln Single submitter ⚠
p.Glu201Val Single submitter Dent disease type 1 ⚠
p.Glu388Lys Single submitter ⚠
p.Glu445Lys Single submitter hypophosphatemic rickets, X-linked recessive ⚠
p.Glu474Lys Single submitter nephrolithiasis, X-linked recessive, with renal failure ⚠
p.Glu55= Single submitter
p.Glu552Lys Single submitter ⚠
p.Glu625Lys Single submitter Inborn genetic diseases ⚠
p.Glu697Gly Single submitter hypophosphatemic rickets, X-linked recessive ⚠
p.Gly127Ser Single submitter ⚠
p.Gly12Val Single submitter Inborn genetic diseases ⚠
p.Gly139= Single submitter
p.Gly139Asp Single submitter hypophosphatemic rickets, X-linked recessive ⚠
p.Gly369Glu Single submitter Inborn genetic diseases ⚠
p.Gly399Asp Single submitter ⚠
p.Gly582Asp Single submitter Dent disease type 1 ⚠
p.His150Arg Single submitter hypophosphatemic rickets, X-linked recessive ⚠
p.His150Gln Single submitter ⚠
p.His381Tyr Single submitter ⚠
p.His385Arg Single submitter Inborn genetic diseases ⚠
p.His735Tyr Single submitter ⚠
p.Ile134Thr Single submitter ⚠
p.Ile263Thr Single submitter Inborn genetic diseases ⚠
p.Ile329Val Single submitter ⚠
p.Ile428Leu Single submitter Inborn genetic diseases ⚠
p.Ile428Thr Single submitter ⚠
p.Ile506Thr Single submitter Inborn genetic diseases ⚠
p.Ile711Val Single submitter ⚠
p.Ile793Val Single submitter ⚠
p.Ile802Val Single submitter Inborn genetic diseases ⚠
p.Ile813Val Single submitter ⚠
p.Leu195Val Single submitter ⚠
p.Leu219Ile Single submitter hypophosphatemic rickets, X-linked recessive ⚠
p.Leu223Arg Single submitter ⚠
p.Leu223Phe Single submitter Inborn genetic diseases ⚠
p.Leu270Pro Single submitter hypophosphatemic rickets, X-linked recessive ⚠
p.Leu284Lys Single submitter Dent disease type 1
p.Leu295Arg Single submitter ⚠
p.Leu333del Single submitter
p.Leu405= Single submitter
p.Leu470Phe Single submitter ⚠
p.Leu701Phe Single submitter Inborn genetic diseases ⚠
p.Leu701Pro Single submitter ⚠
p.Leu710Arg Single submitter Dent disease type 1 ⚠
p.Lys109Arg Single submitter ⚠
p.Lys346= Single submitter hypophosphatemic rickets, X-linked recessive
p.Lys481Arg Single submitter ⚠
p.Met1Val Single submitter Dent disease type 1
p.Met543Thr Single submitter Dent disease type 1 ⚠
p.Met653Thr Single submitter ⚠
p.Met766Val Single submitter ⚠
p.Phe166Ser Single submitter Dent disease type 1 ⚠
p.Phe211Leu Single submitter hypophosphatemic rickets, X-linked recessive ⚠
p.Phe343Leu Single submitter ⚠
p.Phe368Ser Single submitter Inborn genetic diseases ⚠
p.Phe380Tyr Single submitter ⚠
p.Phe442Leu Single submitter ⚠
p.Phe459Leu Single submitter hypophosphatemic rickets, X-linked recessive ⚠
p.Phe556Leu Single submitter ⚠
p.Phe639Leu Single submitter ⚠
p.Phe732Val Single submitter ⚠
p.Phe87Leu Single submitter ⚠
p.Pro569Ser Single submitter Inborn genetic diseases ⚠
p.Pro745Arg Single submitter ⚠
p.Pro765His Single submitter Inborn genetic diseases ⚠
p.Ser110Asn Single submitter ⚠
p.Ser175Cys Single submitter ⚠
p.Ser248_Gly249insValLysThrIleLeuSer Single submitter
p.Ser248Asn Single submitter ⚠
p.Ser322Phe Single submitter ⚠
p.Ser340Gly Single submitter ⚠
p.Ser371Thr Single submitter ⚠
p.Ser450Asn Single submitter hypophosphatemic rickets, X-linked recessive ⚠
p.Ser756Gly Single submitter Inborn genetic diseases ⚠
p.Thr107Ile Single submitter ⚠
p.Thr199Arg Single submitter hypophosphatemic rickets, X-linked recessive ⚠
p.Thr409Ala Single submitter Inborn genetic diseases ⚠
p.Thr599Pro Single submitter ⚠
p.Thr666Ala Single submitter ⚠
p.Thr669Ile Single submitter ⚠
p.Thr733Ala Single submitter nephrolithiasis, X-linked recessive, with renal failure ⚠
p.Thr784Ile Single submitter Inborn genetic diseases ⚠
p.Trp128Leu Single submitter ⚠
p.Trp384Arg Single submitter Dent disease type 1 ⚠
p.Trp499Arg Single submitter nephrolithiasis, X-linked recessive, with renal failure ⚠
p.Trp92Cys Single submitter ⚠
p.Tyr206Cys Single submitter ⚠
p.Tyr255Cys Single submitter ⚠
p.Tyr425Cys Single submitter ⚠
p.Tyr495Cys Single submitter
p.Tyr548Cys Single submitter ⚠
p.Tyr572Cys Single submitter CLCN5-related disorder ⚠
p.Val228Leu Single submitter ⚠
p.Val230Glu Single submitter Inborn genetic diseases ⚠
p.Val285Leu Single submitter ⚠
p.Val312Ala Single submitter ⚠
p.Val321Ile Single submitter Dent disease type 1 ⚠
p.Val390Met Single submitter Inborn genetic diseases ⚠
p.Val432Ile Single submitter ⚠
p.Val575Ile Single submitter hypophosphatemic rickets, X-linked recessive ⚠
p.Val675Met Single submitter hypophosphatemic rickets, X-linked recessive ⚠
p.Val692Met Single submitter ⚠
c.933+3A>C No assertion criteria Dent disease type 1
p.Ala221Pro No assertion criteria CLCN5-related disorder ⚠
p.Ala354Val No assertion criteria Dent disease type 1 ⚠
p.Arg51Gln No assertion criteria nephrolithiasis, X-linked recessive, with renal failure ⚠
p.Asp461Ala No assertion criteria ⚠
p.Asp662Asn No assertion criteria ⚠
p.Asp754Gly No assertion criteria ⚠
p.Cys289= No assertion criteria
p.Thr680Ser No assertion criteria CLCN5-related disorder ⚠