Sugi Variant

Sugi Variant/PCDH15

PCDH15 — 3685 ClinVar variants

All ClinVar germline PCDH15 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1062 flagged for review →

157 Pathogenic · 87 Pathogenic/Likely pathogenic · 244 Likely pathogenic · 190 Conflicting · 174 Benign · 43 Benign/Likely benign · 1427 Likely benign · 1363 Uncertain significance

Full PCDH15 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1062

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 3

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

Predictors agree, ClinVar conflicts 58

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

Predictors lean, ClinVar uncertain 701

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 701

Predictors split 300

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 300

All PCDH15 variants

Pathogenic 157

Pathogenic/Likely pathogenic 87

  • c.158-2A>T Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • c.1784+1G>T Multiple submitters Usher syndrome type 1D
  • c.1997+1del Multiple submitters Usher syndrome type 1F
  • c.1997+1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • c.1998-2A>G Multiple submitters Rare genetic deafness
  • c.3232+1G>A Multiple submitters Usher syndrome type 1D
  • c.3373+1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • c.3501+2T>C Multiple submitters Usher syndrome type 1F
  • c.3717+1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • c.3717+1G>C Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • c.3717+1G>T Multiple submitters Usher syndrome type 1D
  • c.3717+2dup Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • c.3983+1G>T Multiple submitters PCDH15-related disorder
  • c.4368-2A>T Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • c.4671+1217C>T Multiple submitters PCDH15-related disorder
  • c.4671+1429_4671+1432dup Multiple submitters Usher syndrome type 1F
  • c.706-3_717del Multiple submitters PCDH15-related disorder
  • p.Ala1510fs Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Ala1524fs Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Arg1106Ter Multiple submitters Usher syndrome
  • p.Arg134Gly Multiple submitters Rare genetic deafness ⚠
  • p.Arg1414Ter Multiple submitters PCDH15-related disorder
  • p.Arg336Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Arg577fs Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Arg659fs Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Asn122fs Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Asn1254fs Multiple submitters Usher syndrome type 1F
  • p.Asn1470fs Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Asn610fs Multiple submitters Usher syndrome type 1F
  • p.Asn851fs Multiple submitters PCDH15-related disorder
  • p.Asp1322fs Multiple submitters PCDH15-related disorder
  • p.Asp1518delinsIleTer Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Asp435fs Multiple submitters Usher syndrome type 1F
  • p.Asp521_Ser527delinsTer Multiple submitters Usher syndrome type 1F
  • p.Asp677fs Multiple submitters PCDH15-related disorder
  • p.Asp682delinsGlyGlnGlyLysHisTer Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Cys120fs Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Gln1145Ter Multiple submitters Usher syndrome type 1F
  • p.Gln1221Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Gln1401Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Gln186Ter Multiple submitters PCDH15-related disorder
  • p.Gln359Ter Multiple submitters PCDH15-related disorder
  • p.Gln401Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Gln467fs Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Gln467Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Gln488Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Gln611Ter Multiple submitters Usher syndrome type 1F
  • p.Gln639Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Glu1013Ter Multiple submitters Usher syndrome type 1D
  • p.Glu1261fs Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Glu1368Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Glu188fs Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Glu731Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Gly1452fs Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Gly321fs Multiple submitters Usher syndrome type 1F
  • p.Gly942fs Multiple submitters Usher syndrome type 1F
  • p.His1462fs Multiple submitters Usher syndrome type 1F
  • p.Ile1204fs Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Ile544fs Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Leu1573fs Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Leu363fs Multiple submitters PCDH15-related disorder
  • p.Leu877Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Lys1230Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Lys941fs Multiple submitters Usher syndrome type 1D
  • p.Met1016delinsIleLeuTer Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Met1159fs Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Phe1220fs Multiple submitters Usher syndrome type 1F
  • p.Phe717fs Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Pro510fs Multiple submitters Usher syndrome type 1F
  • p.Ser1534fs Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Ser1537fs Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Ser1543Ter Multiple submitters
  • p.Ser399fs Multiple submitters Usher syndrome type 1F
  • p.Ser622fs Multiple submitters Usher syndrome type 1F
  • p.Ser875Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Thr702_Val703insTer Multiple submitters Usher syndrome type 1D
  • p.Trp84Ter Multiple submitters Usher syndrome type 1D
  • p.Tyr1090Ter Multiple submitters Usher syndrome type 1D
  • p.Tyr189Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Tyr403Ter Multiple submitters Usher syndrome type 1D
  • p.Tyr579Ter Multiple submitters Usher syndrome type 1D
  • p.Tyr602Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Tyr931Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Tyr974fs Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Val1472fs Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Val493fs Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Pro263Gln No assertion criteria autosomal recessive nonsyndromic hearing loss 23

Likely pathogenic 244

  • c.1305+2T>A Multiple submitters PCDH15-related disorder
  • c.1306-1G>T Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • c.1306-2A>G Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • c.1440+2T>C Multiple submitters Usher syndrome type 1F
  • c.1441-2A>C Multiple submitters Usher syndrome type 1F
  • c.1917+1G>A Multiple submitters Usher syndrome type 1F
  • c.1918-1G>A Multiple submitters Usher syndrome type 1D
  • c.2868+1G>A Multiple submitters PCDH15-related disorder
  • c.3010-1G>C Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • c.3122+1G>A Multiple submitters PCDH15-related disorder
  • c.3122+1G>T Multiple submitters Usher syndrome type 1F
  • c.3122+2T>A Multiple submitters Usher syndrome type 1F
  • c.3373+2T>C Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • c.3806+2T>C Multiple submitters Usher syndrome type 1D
  • c.3984-1G>T Multiple submitters PCDH15-related disorder
  • c.4211+1G>T Multiple submitters PCDH15-related disorder
  • c.475-2A>G Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • c.91+1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 23
  • p.Ala306fs Multiple submitters Usher syndrome type 1F
  • p.Asp783fs Multiple submitters Usher syndrome type 1D
  • p.Glu1648fs Multiple submitters Usher syndrome type 1D
  • p.Glu830fs Multiple submitters Usher syndrome type 1F
  • p.Leu805fs Multiple submitters Usher syndrome type 1D
  • p.Tyr477Ter Multiple submitters PCDH15-related disorder
  • p.Val1163fs Multiple submitters Usher syndrome type 1D
  • c.1098+2T>G Single submitter
  • c.1305+1del Single submitter Usher syndrome type 1F
  • c.1305+1G>A Single submitter Usher syndrome type 1F
  • c.1305+2T>G Single submitter
  • c.1306-1G>A Single submitter autosomal recessive nonsyndromic hearing loss 23
  • c.1306-1G>C Single submitter
  • c.158-1G>T Single submitter
  • c.1590+1G>A Single submitter
  • c.1591-2A>C Single submitter autosomal recessive nonsyndromic hearing loss 23
  • c.1784+1_1784+12del Single submitter
  • c.1785-1G>A Single submitter Usher syndrome type 1F
  • c.1913_1917+8del Single submitter
  • c.1917+2T>C Single submitter Usher syndrome type 1F
  • c.1997+1G>C Single submitter autosomal recessive nonsyndromic hearing loss 23
  • c.1998-1G>A Single submitter
  • c.2091+1G>A Single submitter
  • c.2092-2A>G Single submitter autosomal recessive nonsyndromic hearing loss 23
  • c.2092-482_2092del Single submitter
  • c.2220+1G>A Single submitter
  • c.2220+2T>C Single submitter Usher syndrome type 1D
  • c.2221-2A>G Single submitter
  • c.2526+2T>C Single submitter
  • c.2527-2A>G Single submitter
  • c.2752-1G>A Single submitter
  • c.2868+1G>C Single submitter PCDH15-related disorder
  • c.2868+2T>A Single submitter
  • c.2868+2T>C Single submitter
  • c.2869-1G>A Single submitter
  • c.3009+1G>C Single submitter autosomal recessive nonsyndromic hearing loss 23
  • c.3009+1G>T Single submitter autosomal recessive nonsyndromic hearing loss 23
  • c.3123-1G>C Single submitter autosomal recessive nonsyndromic hearing loss 23
  • c.318+1G>A Single submitter
  • c.3233-2A>G Single submitter Usher syndrome type 1F
  • c.3374-2A>G Single submitter
  • c.3497_3501+5del Single submitter Usher syndrome type 1F
  • c.3502-2A>G Single submitter Usher syndrome type 1F
  • c.3717+1del Single submitter
  • c.3806+1G>T Single submitter
  • c.3807-2A>G Single submitter autosomal recessive nonsyndromic hearing loss 23
  • c.3983+2T>C Single submitter PCDH15-related disorder
  • c.3984-2A>C Single submitter autosomal recessive nonsyndromic hearing loss 23
  • c.3984-2A>T Single submitter
  • c.4203-1G>A Single submitter
  • c.4212-1G>A Single submitter
  • c.4367+1G>A Single submitter autosomal recessive nonsyndromic hearing loss 23
  • c.4367+2dup Single submitter autosomal recessive nonsyndromic hearing loss 23
  • c.4367+2T>C Single submitter autosomal recessive nonsyndromic hearing loss 23
  • c.4368-7_4374del Single submitter Usher syndrome type 1D
  • c.4671+1218dup Single submitter autosomal recessive nonsyndromic hearing loss 23
  • c.4671+1384dup Single submitter autosomal recessive nonsyndromic hearing loss 23
  • c.4671+1538A>T Single submitter Usher syndrome type 1D
  • c.4671+1564del Single submitter Usher syndrome type 1D
  • c.475-2A>C Single submitter
  • c.595-2A>C Single submitter
  • c.705+5G>A Single submitter Usher syndrome
  • c.706-2A>G Single submitter
  • c.876+1G>A Single submitter PCDH15-related disorder
  • c.876+1G>C Single submitter Usher syndrome type 1F
  • c.876+2T>C Single submitter autosomal recessive nonsyndromic hearing loss 23
  • c.985+1G>C Single submitter
  • c.986-1G>T Single submitter Usher syndrome type 1F
  • p.Ala1049fs Single submitter Usher syndrome type 1D
  • p.Ala1060fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Ala1376fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Ala580fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Arg1366fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Arg1478fs Single submitter Usher syndrome type 1F
  • p.Arg1545fs Single submitter
  • p.Arg966fs Single submitter Usher syndrome type 1D
  • p.Asn1138fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Asn389fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Asn596fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Asp1237fs Single submitter Usher syndrome type 1F
  • p.Asp139Glu Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Asp1722Ter Single submitter Usher syndrome type 1D
  • p.Asp485fs Single submitter Usher syndrome type 1D
  • p.Cys1409Ter Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Cys1696fs Single submitter Usher syndrome type 1F
  • p.Gln119fs Single submitter Usher syndrome type 1D
  • p.Gln1249Ter Single submitter Usher syndrome type 1D
  • p.Gln1316fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Gln1316Ter Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Gln1464fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Gln1652fs Single submitter Usher syndrome type 1F
  • p.Gln192Ter Single submitter Usher syndrome type 1D
  • p.Gln239Ter Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Gln314Ter Single submitter PCDH15-related disorder
  • p.Gln369Ter Single submitter Usher syndrome type 1D
  • p.Gln456Ter Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Gln475Ter Single submitter Usher syndrome type 1D
  • p.Gln530His Single submitter PCDH15-related disorder ⚠
  • p.Gln751Ter Single submitter Usher syndrome type 1F
  • p.Gln840fs Single submitter Usher syndrome type 1D
  • p.Gln888Ter Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Glu1038Ter Single submitter Usher syndrome type 1D
  • p.Glu1155fs Single submitter Usher syndrome type 1D
  • p.Glu1686fs Single submitter
  • p.Glu1891Lys Single submitter Usher syndrome ⚠
  • p.Glu294Ter Single submitter Usher syndrome type 1D
  • p.Glu368fs Single submitter Usher syndrome type 1D
  • p.Glu384Ter Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Glu624fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Glu786Ter Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Glu860fs Single submitter Usher syndrome type 1F
  • p.Glu980Ter Single submitter Usher syndrome type 1F
  • p.Gly100fs Single submitter Usher syndrome type 1F
  • p.Gly1367fs Single submitter Usher syndrome type 1D
  • p.Gly1500delinsTyrTer Single submitter Usher syndrome type 1D
  • p.Gly411Ter Single submitter Usher syndrome type 1D
  • p.Gly563Ter Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Gly737fs Single submitter Usher syndrome type 1D
  • p.Gly849fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.His339fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.His358fs Single submitter Usher syndrome type 1D
  • p.His442fs Single submitter Usher syndrome type 1D
  • p.His797fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Ile1251fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Ile1383fs Single submitter PCDH15-related disorder
  • p.Ile15fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Ile191fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Ile433fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Ile652fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Leu1330fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Leu1625fs Single submitter Usher syndrome type 1D
  • p.Leu280fs Single submitter Usher syndrome type 1D
  • p.Leu465Ter Single submitter PCDH15-related disorder
  • p.Leu623fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Lys1051fs Single submitter Usher syndrome type 1D
  • p.Lys1167Ter Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Lys1205Ter Single submitter Usher syndrome type 1D
  • p.Lys124fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Lys1263fs Single submitter Usher syndrome type 1D
  • p.Lys1328Ter Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Lys1339Ter Single submitter Usher syndrome type 1D
  • p.Lys1403fs Single submitter ear malformation
  • p.Lys1859fs Single submitter Usher syndrome type 1D
  • p.Lys78fs Single submitter Usher syndrome type 1F
  • p.Lys91Ter Single submitter PCDH15-related disorder
  • p.Lys941Ter Single submitter PCDH15-related disorder
  • p.Met573fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Phe1329fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Phe21fs Single submitter Usher syndrome type 1D
  • p.Phe735fs Single submitter Usher syndrome type 1D
  • p.Phe865fs Single submitter Usher syndrome type 1F
  • p.Pro393Leu Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Pro439fs Single submitter Usher syndrome type 1D
  • p.Pro614fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Pro907fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Pro944fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Ser1369fs Single submitter
  • p.Ser1685Ter Single submitter
  • p.Ser1895fs Single submitter Usher syndrome type 1F
  • p.Ser726fs Single submitter Usher syndrome type 1D
  • p.Ser985fs Single submitter Usher syndrome type 1D
  • p.Thr1206fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Thr1304fs Single submitter Usher syndrome type 1D
  • p.Thr1412fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Thr247fs Single submitter Usher syndrome type 1D
  • p.Thr506fs Single submitter Usher syndrome type 1D
  • p.Thr700fs Single submitter Usher syndrome type 1D
  • p.Thr72fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Thr766_Ser767insTer Single submitter PCDH15-related disorder
  • p.Thr99fs Single submitter Usher syndrome type 1F
  • p.Trp8fs Single submitter PCDH15-related disorder
  • p.Trp8Ter Single submitter PCDH15-related disorder
  • p.Tyr1069fs Single submitter Usher syndrome type 1D
  • p.Tyr1181fs Single submitter Usher syndrome type 1F
  • p.Tyr1303fs Single submitter Usher syndrome type 1D
  • p.Tyr1311fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Tyr1345fs Single submitter Usher syndrome type 1D
  • p.Tyr153fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Tyr228Ter Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Tyr28Ter Single submitter Usher syndrome type 1F
  • p.Tyr6fs Single submitter Usher syndrome type 1D
  • p.Tyr974Ter Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Val1107fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • p.Val1578fs Single submitter
  • p.Val271fs Single submitter Usher syndrome type 1D
  • p.Val499fs Single submitter Usher syndrome type 1D
  • p.Val550fs Single submitter PCDH15-related disorder
  • p.Val707fs Single submitter Usher syndrome type 1D
  • p.Val90fs Single submitter autosomal recessive nonsyndromic hearing loss 23
  • c.1305+1G>C No assertion criteria Usher syndrome type 1F
  • c.1785-2A>C No assertion criteria Usher syndrome type 1F
  • c.1997+1G>T No assertion criteria Usher syndrome type 1F
  • c.2091+2T>C No assertion criteria Usher syndrome type 1F
  • c.2869-1G>T No assertion criteria autosomal recessive nonsyndromic hearing loss 23
  • c.3123-1G>A No assertion criteria Usher syndrome type 1F
  • c.3501+1G>T No assertion criteria Usher syndrome type 1F
  • c.3806+1G>C No assertion criteria Usher syndrome type 1F
  • c.3984-2A>G No assertion criteria Usher syndrome type 1F
  • c.4211+1del No assertion criteria Usher syndrome type 1F
  • c.4211+1G>A No assertion criteria Usher syndrome type 1F
  • c.4368-15_4368-2del No assertion criteria Usher syndrome type 1F
  • c.475-2204_594+1766del No assertion criteria Usher syndrome
  • c.594+1G>T No assertion criteria Usher syndrome type 1F
  • c.(?_-1 No assertion criteria inherited retinal dystrophy
  • c.-189197_c.610-5166del No assertion criteria Usher syndrome type 1D
  • p.Ala1008fs No assertion criteria Usher syndrome type 1F
  • p.Ala1297fs No assertion criteria Usher syndrome type 1F
  • p.Arg1400fs No assertion criteria Usher syndrome type 1F
  • p.Asn1244fs No assertion criteria Usher syndrome type 1F
  • p.Asp139fs No assertion criteria Usher syndrome type 1F
  • p.Asp1499Glu No assertion criteria autosomal recessive nonsyndromic hearing loss 23 ⚠
  • p.Cys10fs No assertion criteria Usher syndrome type 1F
  • p.His112fs No assertion criteria Usher syndrome type 1F
  • p.His1949fs No assertion criteria Progressive cone dystrophy (without rod involvement)
  • p.Ile1071fs No assertion criteria Usher syndrome type 1F
  • p.Leu1267fs No assertion criteria Usher syndrome type 1F
  • p.Leu216Ter No assertion criteria Usher syndrome type 1F
  • p.Phe1218fs No assertion criteria Usher syndrome type 1F
  • p.Pro108fs No assertion criteria Usher syndrome type 1F
  • p.Pro1438fs No assertion criteria Usher syndrome type 1F
  • p.Pro591fs No assertion criteria Usher syndrome type 1F
  • p.Thr252fs No assertion criteria autosomal recessive nonsyndromic hearing loss 23
  • p.Thr545_Tyr546insTer No assertion criteria Usher syndrome type 1F
  • p.Tyr684Ter No assertion criteria Usher syndrome type 1F
  • p.Val1114fs No assertion criteria Usher syndrome type 1F
  • p.Val328fs No assertion criteria autosomal recessive nonsyndromic hearing loss 23

Conflicting classifications of pathogenicity 190

Benign 174

Benign/Likely benign 43

Likely benign 1427

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

Uncertain significance 1363

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