Sugi Variant

Sugi Variant/ATP6V1B1

ATP6V1B1 — 809 ClinVar variants

All ClinVar germline ATP6V1B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 241 flagged for review →

50 Pathogenic · 22 Pathogenic/Likely pathogenic · 47 Likely pathogenic · 29 Conflicting · 42 Benign · 5 Benign/Likely benign · 353 Likely benign · 261 Uncertain significance

Full ATP6V1B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 241

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 7

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

Predictors lean, ClinVar uncertain 152

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 152

Predictors split 82

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

All ATP6V1B1 variants

Pathogenic 50

  • c.175-1G>C Multiple submitters nephrocalcinosis
  • c.687+1G>T Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.785+1G>A Multiple submitters Rare genetic deafness
  • p.Arg114Ter Multiple submitters Inborn genetic diseases
  • p.Arg31Ter Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Gln27Ter Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Gln61fs Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Glu162Ter Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Ile386fs Multiple submitters ATP6V1B1-related disorder
  • p.Leu12fs Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Phe452fs Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Phe468fs Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Pro137fs Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Pro346Arg Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Thr166fs Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Tyr420fs Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.1248+1G>A Single submitter
  • c.1378+2T>G Single submitter
  • c.175-1G>A Single submitter
  • p.Ala276fs Single submitter
  • p.Arg124fs Single submitter
  • p.Arg157fs Single submitter
  • p.Arg375fs Single submitter
  • p.Arg38fs Single submitter
  • p.Arg465fs Single submitter
  • p.Asn259fs Single submitter
  • p.Asn414fs Single submitter
  • p.Cys201fs Single submitter
  • p.Gln203Ter Single submitter
  • p.Gln376Ter Single submitter
  • p.Gln459Ter Single submitter
  • p.Glu107Ter Single submitter
  • p.Glu299fs Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Glu402fs Single submitter
  • p.Glu435fs Single submitter
  • p.Glu4fs Single submitter
  • p.Glu64fs Single submitter
  • p.Glu82fs Single submitter
  • p.Gly369fs Single submitter
  • p.His193fs Single submitter
  • p.Leu206fs Single submitter
  • p.Lys285Ter Single submitter
  • p.Ser393Ter Single submitter
  • p.Ser466Ter Single submitter
  • p.Thr439_Ser440insTer Single submitter
  • p.Tyr281fs Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Tyr383Ter Single submitter
  • p.Tyr417Ter Single submitter
  • p.Val83fs Single submitter
  • p.Glu309Ter No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss

Pathogenic/Likely pathogenic 22

  • c.1248+1G>C Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.273+2T>A Multiple submitters ATP6V1B1-related disorder
  • c.585+1G>A Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.687+1G>A Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Arg157Cys Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Arg23Ter Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Arg315Ter Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Gln150Ter Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Gln181Ter Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Gln450fs Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Gln61Ter Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Gln79Ter Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Glu161fs Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Glu330Ter Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Glu82delinsAspTer Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Gly78Arg Multiple submitters Inborn genetic diseases
  • p.Leu81Pro Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Thr115fs Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Thr275Pro Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Tyr159Ter Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Tyr41Ter Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Tyr462Ter Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss

Likely pathogenic 47

  • c.1143+2T>C Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.1249-3C>G Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.367+1G>T Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.446-1G>A Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.786-1G>A Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Asp354Asn Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Ser46fs Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.1060+2T>C Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.1061-1G>T Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.1144-1G>A Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.118+1_118+22del Single submitter
  • c.118+1G>C Single submitter
  • c.119-1G>T Single submitter
  • c.1249-1G>C Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.174+1G>A Single submitter
  • c.273+1G>C Single submitter
  • c.273+2T>C Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.273+2T>G Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.274-2A>G Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.367+1G>A Single submitter
  • c.368-1G>A Single submitter
  • c.585+1G>T Single submitter
  • c.586-1G>T Single submitter
  • c.910-1G>C Single submitter
  • c.910-2A>T Single submitter
  • p.Arg308fs Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Gln450Ter Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Glu24fs Single submitter Renal tubulopathies
  • p.Glu469fs Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Gly11fs Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Gly229= Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Gly98fs Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Lys135Ter Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Lys483Asn Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Met248fs Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Met321fs Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Phe448fs Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Pro154Arg Single submitter
  • p.Pro170fs Single submitter urogenital tract malformation
  • p.Thr275fs Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Thr439fs Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Thr96fs Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Tyr297Ter Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Tyr372Ter Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Tyr462fs Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Val335fs Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Val467fs Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss

Conflicting classifications of pathogenicity 29

  • c.1061-12G>A Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.1061-13A>G Single submitter
  • c.1143+10T>C Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.119-10C>T Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.1249-11C>T Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.1249-15_1249-11del Single submitter
  • c.688-7T>C Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.-19C>T Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Ala272Val Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Ala63= Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Ala88= Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Arg124Trp Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Arg394Gln Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Arg465His Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Asp100Asn Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Cys106= Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Glu107Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu161Lys Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Glu330Lys Single submitter Renal tubulopathies ⚠
  • p.Glu436= Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Ile223= Single submitter
  • p.Met26Thr Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Met26Val Single submitter Inborn genetic diseases ⚠
  • p.Phe68= Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Thr363= Single submitter
  • p.Tyr372= Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Val173Ile Single submitter Inborn genetic diseases ⚠
  • p.Val224Ile Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Val426Met Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠

Benign 42

  • c.1060+103G>A Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.1061-47G>A Multiple submitters
  • c.118+23C>T Multiple submitters
  • c.119-220C>T Multiple submitters
  • c.1248+9A>G Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.1249-89C>T Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.174+49G>A Multiple submitters
  • c.175-198T>C Multiple submitters
  • c.175-90A>C Multiple submitters
  • c.274-72A>C Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.445+157G>A Multiple submitters
  • c.586-140G>A Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.586-47G>T Multiple submitters
  • c.786-50T>C Multiple submitters
  • c.909+21T>C Multiple submitters
  • c.-34C>T Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.*12G>A Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.*68C>T Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.*6C>A Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Arg334= Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Asp218= Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Met1Thr Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Pro9= Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Ser341= Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Ser440= Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Ser46= Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.1144-13del Single submitter
  • c.1144-301G>T Single submitter
  • c.1144-324_1144-318del Single submitter
  • c.118+148C>T Single submitter
  • c.118+188G>A Single submitter
  • c.119-14del Single submitter
  • c.119-89GA[2] Single submitter
  • c.1249-18G>C Single submitter
  • c.1249-3dup Single submitter
  • c.175-209dup Single submitter
  • c.368-292C>A Single submitter
  • c.687+163G>A Single submitter
  • c.687+236del Single submitter
  • c.688-265G>C Single submitter
  • c.786-182G>A Single submitter
  • c.*80C>T Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss

Benign/Likely benign 5

  • c.118+18C>T Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.785+10C>T Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Asn48= Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Gly14Ser Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Thr30Ile Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠

Likely benign 353

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

Uncertain significance 261

  • c.174+3A>G Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Ala141Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala222Thr Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Ala28Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala2Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Arg102Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg114Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg179His Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Arg202His Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Arg23Gln Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Arg265Trp Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Arg270Cys Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Arg302Pro Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Arg314Cys Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Arg314His Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Arg315Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg331Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg334His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg338Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg38Cys Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Arg38His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg394= Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Arg56Gly Multiple submitters ⚠
  • p.Asn352Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asn387Lys Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Asp146Gly Multiple submitters ⚠
  • p.Asp293Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp353Asn Multiple submitters ⚠
  • p.Asp374Gly Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Asp442Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Asp495Tyr Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Cys106Tyr Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Glu195Lys Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Glu264Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Glu453Lys Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Gly14Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Gly180Ser Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Gly337Val Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Gly410Arg Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Gly49Arg Multiple submitters ⚠
  • p.Gly502Ala Multiple submitters ⚠
  • p.Gly85Asp Multiple submitters ⚠
  • p.His217Gln Multiple submitters Inborn genetic diseases ⚠
  • p.His217Tyr Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Ile171Met Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Ile171Thr Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Ile171Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile400Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Lys483Met Multiple submitters Inborn genetic diseases ⚠
  • p.Lys58Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Met1Ile Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Met1Leu Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Met294Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met404Val Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Met429Ile Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Pro461Leu Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Pro490Leu Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Ser466Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Thr292Met Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Thr35Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr372Cys Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Tyr498Cys Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Val251Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val433Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Val433Asp Multiple submitters renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Val52Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val66Ile Multiple submitters Inborn genetic diseases ⚠
  • c.1061-7C>G Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.119-7C>A Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.1378+6G>A Single submitter
  • c.174+415G>A Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.174+5G>C Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.445+6T>G Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.586-16A>G Single submitter
  • c.586-3T>C Single submitter
  • c.687+9A>G Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Ala198Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala204Glu Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Ala204Thr Single submitter ⚠
  • p.Ala204Val Single submitter Inborn genetic diseases ⚠
  • p.Ala235Pro Single submitter ⚠
  • p.Ala28Glu Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Ala2Asp Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Ala437Val Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Ala503Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala84Val Single submitter Inborn genetic diseases ⚠
  • p.Ala88Thr Single submitter ⚠
  • p.Ala88Val Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Arg265Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg270His Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Arg302Gln Single submitter ⚠
  • p.Arg302Trp Single submitter ⚠
  • p.Arg31Gln Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Arg331= Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Arg331Trp Single submitter ⚠
  • p.Arg338Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg338Pro Single submitter ⚠
  • p.Arg394Gly Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Arg465Leu Single submitter ⚠
  • p.Arg465Pro Single submitter ⚠
  • p.Arg479Cys Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Arg488Gly Single submitter ⚠
  • p.Arg56Gln Single submitter ⚠
  • p.Arg56Trp Single submitter ⚠
  • p.Asn18Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn256His Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Asn352Ser Single submitter ⚠
  • p.Asn458Ser Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Asp111Val Single submitter ⚠
  • p.Asp146Glu Single submitter ⚠
  • p.Asp219Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp241Val Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Asp353= Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Asp6Glu Single submitter ⚠
  • p.Cys106Ser Single submitter Inborn genetic diseases ⚠
  • p.Gln165Pro Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Gln344His Single submitter Inborn genetic diseases ⚠
  • p.Gln381= Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Gln427Lys Single submitter ⚠
  • p.Gln450His Single submitter ⚠
  • p.Gln491His Single submitter ⚠
  • p.Gln505Ter Single submitter
  • p.Gln91= Single submitter
  • p.Glu264Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu264Val Single submitter ⚠
  • p.Glu299Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu368Lys Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Glu435Lys Single submitter ⚠
  • p.Glu436Val Single submitter ⚠
  • p.Glu463Lys Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Glu469Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu501= Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Gly10Val Single submitter Inborn genetic diseases ⚠
  • p.Gly110Glu Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Gly11Arg Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Gly11Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly123Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly130Ser Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Gly14Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly190Ala Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Gly205Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly20Asp Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Gly313Glu Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Gly423Trp Single submitter ⚠
  • p.Gly49Ala Single submitter ⚠
  • p.Gly73Ala Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Gly73Val Single submitter Inborn genetic diseases ⚠
  • p.His193Asp Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Ile112Asn Single submitter Inborn genetic diseases ⚠
  • p.Ile164Thr Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Ile328Asn Single submitter Inborn genetic diseases ⚠
  • p.Ile342Ser Single submitter Usher syndrome ⚠
  • p.Ile359Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile422Met Single submitter Inborn genetic diseases ⚠
  • p.Ile489Ser Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Ile489Val Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Ile494Met Single submitter Inborn genetic diseases ⚠
  • p.Ile99Met Single submitter ⚠
  • p.Leu214Met Single submitter ⚠
  • p.Leu444_Leu449del Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Leu486Pro Single submitter ⚠
  • p.Leu513Pro Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Lys285Asn Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Met121Lys Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Met140Thr Single submitter Inborn genetic diseases ⚠
  • p.Met140Val Single submitter Inborn genetic diseases ⚠
  • p.Met174Thr Single submitter ⚠
  • p.Met228Arg Single submitter Inborn genetic diseases ⚠
  • p.Met228Thr Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Met232Thr Single submitter Inborn genetic diseases ⚠
  • p.Met294Leu Single submitter ⚠
  • p.Met294Lys Single submitter ⚠
  • p.Met294Val Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Met404Thr Single submitter ⚠
  • p.Phe126Ser Single submitter Inborn genetic diseases ⚠
  • p.Phe452Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe497Leu Single submitter ⚠
  • p.Pro132Ala Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Pro132Ser Single submitter ⚠
  • p.Pro154Gln Single submitter ⚠
  • p.Pro154Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro192Thr Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Pro269Gln Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Pro269Leu Single submitter ⚠
  • p.Pro346Leu Single submitter ⚠
  • p.Pro358Ala Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Pro37Ala Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Pro385Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro461Thr Single submitter ⚠
  • p.Pro71Leu Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Ser341Pro Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Ser393Trp Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Ser440Cys Single submitter Inborn genetic diseases ⚠
  • p.Ser466Pro Single submitter ⚠
  • p.Ser470_Leu471insSer Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Ser499Tyr Single submitter Inborn genetic diseases ⚠
  • p.Thr104Asn Single submitter Inborn genetic diseases ⚠
  • p.Thr105Ala Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Thr166Met Single submitter ⚠
  • p.Thr268Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr274Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr275Ile Single submitter ⚠
  • p.Thr367Ile Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Thr69Ile Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Tyr297Cys Single submitter ⚠
  • p.Tyr498Phe Single submitter ⚠
  • p.Tyr62His Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Val138Gly Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Val251Gly Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Val287Ala Single submitter Inborn genetic diseases ⚠
  • p.Val311Met Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Val335Met Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Val373_Asp374insGluGlyGlnIleTyrVal Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Val426Gly Single submitter ⚠
  • p.Val44Leu Single submitter ⚠
  • p.Val493Ala Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Val53Met Single submitter ⚠
  • p.Val66Ala Single submitter Inborn genetic diseases ⚠
  • p.Val66Leu Single submitter renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Val83Met Single submitter ⚠
  • c.1061-5T>C No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.1143+10T>G No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.*4C>T No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.*7G>A No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • c.*7G>C No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Ala189= No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Ala189Val No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Ala212Ser No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Arg179Cys No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Arg202Cys No assertion criteria ATP6V1B1-related disorder ⚠
  • p.Arg31Gly No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Arg42Ser No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Arg479His No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Asn245Ser No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Asp111Gly No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Asp146Val No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Asp55Val No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Cys106Trp No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Gln370His No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Gln91Ter No assertion criteria
  • p.Glu142= No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Glu162del No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Glu162Lys No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Glu310= No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Gly337Cys No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Gly85Arg No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Ile200Phe No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Ile371Thr No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Ile489Thr No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Ile5Met No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Leu416= No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Met121Leu No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Met228Val No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Met396Arg No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Met429Val No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Phe225= No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • p.Phe93Leu No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Thr262Lys No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Thr343Ile No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Tyr33Cys No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss ⚠
  • p.Val29= No assertion criteria renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss