Sugi Variant

Sugi Variant/LOXHD1

LOXHD1 — 2945 ClinVar variants

All ClinVar germline LOXHD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 724 flagged for review →

162 Pathogenic · 77 Pathogenic/Likely pathogenic · 195 Likely pathogenic · 152 Conflicting · 71 Benign · 28 Benign/Likely benign · 1361 Likely benign · 899 Uncertain significance

Full LOXHD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 724

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 1

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

Predictors agree, ClinVar conflicts 52

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

Predictors lean, ClinVar uncertain 510

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 510

Predictors split 161

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 161

All LOXHD1 variants

Pathogenic 162

Pathogenic/Likely pathogenic 77

  • c.246-1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.246-1G>T Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.246-2A>G Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.3061+1G>A Multiple submitters hearing loss disorder
  • c.326+1G>A Multiple submitters LOXHD1-related disorder
  • c.3350+1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.3350+1G>C Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.3350+1G>T Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.3351-1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.4212+1G>A Multiple submitters LOXHD1-related disorder
  • c.4376-2A>G Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.4741-1G>A Multiple submitters
  • c.6050-2A>C Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.6182+1G>T Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Ala1684fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Ala291fs Multiple submitters nonsyndromic genetic hearing loss
  • p.Arg1494Ter Multiple submitters LOXHD1-related disorder
  • p.Arg1572Ter Multiple submitters LOXHD1-related disorder
  • p.Arg1646Ter Multiple submitters LOXHD1-related disorder
  • p.Arg1668Ter Multiple submitters Rare genetic deafness
  • p.Arg1675fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Arg2044Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Arg341Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Arg490Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Arg833Ter Multiple submitters LOXHD1-related disorder
  • p.Asn141fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Asn1777fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Asn326fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Asn745fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Asp1159fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Asp1532fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Asp636fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Cys1413Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Cys2121Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Gln1997Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Gln78fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Gln811Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Gln925Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Glu1050Ter Multiple submitters nonsyndromic genetic hearing loss
  • p.Glu1261Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Glu1555Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Glu1871fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Glu211Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Glu801Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Glu905Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Glu954Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Glu972fs Multiple submitters nonsyndromic genetic hearing loss
  • p.Gly2180Glu Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Gly768fs Multiple submitters Rare genetic deafness
  • p.Gly881Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Ile1376fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Ile1599fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Leu24fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Leu513fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Leu77fs Multiple submitters Monogenic hearing loss
  • p.Lys148Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Lys1892Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Lys1991_Ser1992insTer Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Lys402fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Phe163fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Pro1472fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Ser1136fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Ser246fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Thr1614delinsAlaGlnTer Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Thr2185fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Trp1125Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Trp1858Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Trp249Ter Multiple submitters Deafness
  • p.Trp502Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Tyr1308Ter Multiple submitters LOXHD1-related disorder
  • p.Tyr1969Ter Multiple submitters hearing loss disorder
  • p.Tyr2018Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Tyr2164Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Tyr321Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Tyr40Ter Multiple submitters LOXHD1-related disorder
  • p.Val1306fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Val1336fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77

Likely pathogenic 195

  • c.130+1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.2047+1G>A Multiple submitters nonsyndromic genetic hearing loss
  • c.2244+1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.2244+2T>G Multiple submitters Rare genetic deafness
  • c.2437+1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.2598+1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.327-1G>A Multiple submitters LOXHD1-related disorder
  • c.3514+1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.3913+2T>C Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.3914-1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.4095+1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.4375+1G>T Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.4376-1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.4531-2A>G Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.4877-1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.5085+2T>G Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.5400-2A>C Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.6050-1G>A Multiple submitters LOXHD1-related disorder
  • c.608_610+3del Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.6183-2A>T Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.6342-1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.760-2del Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Arg1090Trp Multiple submitters autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Asn1926fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Gly2245fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Leu358fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Ser1886fs Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Thr2024Lys Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.1134+2T>C Single submitter
  • c.1135-1G>C Single submitter
  • c.1270+1G>A Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.1271-1G>T Single submitter
  • c.1271-2A>G Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.1431+1G>C Single submitter
  • c.1431+1G>T Single submitter
  • c.1431+2T>C Single submitter
  • c.1432-2A>G Single submitter
  • c.1519-2A>T Single submitter nonsyndromic genetic hearing loss
  • c.1810-1G>A Single submitter
  • c.1810-2A>T Single submitter
  • c.1970+1G>A Single submitter
  • c.1970+2T>C Single submitter
  • c.1971-1G>A Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.2047+1G>T Single submitter
  • c.2048-2A>G Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.2437+1G>C Single submitter
  • c.245+2T>C Single submitter
  • c.2598+1G>C Single submitter
  • c.3061+1G>T Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.3062-2A>G Single submitter
  • c.3216+1G>T Single submitter
  • c.327-2A>G Single submitter
  • c.3514+1G>C Single submitter
  • c.3515-2A>C Single submitter
  • c.3749-2A>G Single submitter
  • c.3913+2T>A Single submitter
  • c.4213-1G>A Single submitter
  • c.4213-2A>G Single submitter
  • c.4375+2T>C Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.4376-2_4381dup Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.4531-2A>T Single submitter
  • c.4740+1G>A Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.4877-2A>G Single submitter
  • c.4877-2A>T Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.5085+1G>A Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.5085+1G>T Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.511+1G>A Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.512-1G>A Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.512-2A>C Single submitter
  • c.512-2A>T Single submitter
  • c.5272-1G>A Single submitter
  • c.5399+1G>A Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.5517+2T>C Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.5518-1G>A Single submitter
  • c.5518-1G>T Single submitter
  • c.5692+1G>A Single submitter
  • c.5693-1G>T Single submitter
  • c.5693-2A>C Single submitter
  • c.5879-1G>T Single submitter
  • c.6049+1del Single submitter
  • c.6050-2A>G Single submitter
  • c.610+1G>A Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.611-2A>C Single submitter
  • c.611-2A>T Single submitter
  • c.6182+2T>G Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.6183-1G>A Single submitter
  • c.6183-2A>C Single submitter
  • c.759+1G>A Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.759+1G>C Single submitter
  • c.760-1G>C Single submitter
  • c.883+2T>C Single submitter
  • c.884-1G>C Single submitter nonsyndromic genetic hearing loss
  • p.Ala1085fs Single submitter LOXHD1-related disorder
  • p.Ala1594fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Ala1890fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Ala2168fs Single submitter
  • p.Ala785fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Ala914fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Arg2031fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Arg477Ser Single submitter LOXHD1-related disorder ⚠
  • p.Asn1041fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Asn2043fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Asn270fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Asp1063fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Asp1219fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Asp1368fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Asp1404fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Asp1422fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Asp1795fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Asp1995fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Asp276fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Asp950fs Single submitter LOXHD1-related disorder
  • p.Cys1590Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Cys1873Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Cys2010_Asp2011delinsTer Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Cys560fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Gln1203Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Gln1298Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Gln1622Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Gln1805Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Gln1997fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Gln645Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Gln793Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Glu1056Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Glu1349Ter Single submitter Rare genetic deafness
  • p.Glu1912Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Glu2029fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Glu205Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Glu29Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Glu34fs Single submitter LOXHD1-related disorder
  • p.Glu36fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Glu565Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Glu600Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Glu799Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Glu841fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Glu858Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Glu948fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Gly198Glu Single submitter
  • p.Gly2112fs Single submitter
  • p.Gly632fs Single submitter
  • p.Gly69Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.His1531fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Ile1109Phe Single submitter
  • p.Ile1228fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Ile1427fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Ile772Phe Single submitter hearing loss disorder
  • p.Leu2036fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Leu2074Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Leu225Pro Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Leu354fs Single submitter LOXHD1-related disorder
  • p.Leu406Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Leu429fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Lys1182Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Lys1451_Glu1452insTer Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Lys1528Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Lys1580Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Lys1637Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Lys1821fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Lys1843Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Lys264_Tyr265insTer Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Lys424fs Single submitter LOXHD1-related disorder
  • p.Lys453Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Lys495Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Met1792fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Phe1221fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Phe1906fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Phe2091fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Phe2132fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Phe425fs Single submitter
  • p.Pro1593fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Ser162_Phe163delinsArgVal Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Ser2079fs Single submitter
  • p.Ser957fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Thr1583fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Thr1612fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Thr1820fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Thr1847fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Thr1998fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Thr2024fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Thr561fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Trp155Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Trp1663Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Trp397fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Trp397Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Trp427Ter Single submitter LOXHD1-related disorder
  • p.Trp430Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Trp788Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Tyr1119Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Tyr122Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Tyr1302Ter Single submitter LOXHD1-related disorder
  • p.Tyr1620Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Tyr174Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Val559fs Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.4096-1G>C No assertion criteria autosomal recessive nonsyndromic hearing loss 77
  • p.Cys1333Ter No assertion criteria autosomal recessive nonsyndromic hearing loss 77

Conflicting classifications of pathogenicity 152

  • c.1431+10G>T Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.1810-6C>A Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.1810-6C>G Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.1970+9G>A Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.2047+15T>A Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.2245-13G>A Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.2438-9C>A Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.246-14C>T Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.2599-11C>T Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.3061+8G>T Single submitter
  • c.3515-13A>G Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.4096-7del Single submitter
  • c.4212+5G>A Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.4375+7G>A Single submitter
  • c.4376-6G>A Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.4740+13G>T Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.4741-11C>G Single submitter
  • c.4877-15C>T Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.511+13G>C Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.5400-3C>T Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.5692+12G>A Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.5878+18C>T Single submitter
  • c.610+2T>A Single submitter Rare genetic deafness
  • c.611-15T>C Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.611-8G>A Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.759+11C>T Single submitter autosomal recessive nonsyndromic hearing loss 77
  • c.*96G>A Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Ala1406Val Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Ala1600Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala1647Asp Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Ala1684Thr Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Ala2172= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Ala2247= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Arg1090Gln Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Arg1243Trp Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Arg1300Gly Single submitter ⚠
  • p.Arg1356= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Arg1361His Single submitter Inborn genetic diseases ⚠
  • p.Arg1377Trp Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Arg1415Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg1428Ter Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Arg1508Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg153Cys Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Arg1675Cys Single submitter VACTERL/vater association ⚠
  • p.Arg1742Cys Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Arg1862Trp Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Arg1977= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Arg1977His Single submitter ⚠
  • p.Arg2090Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg2188Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg2200Gln Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Arg343His Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Arg524Cys Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Arg524His Single submitter Inborn genetic diseases
  • p.Arg587Trp Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Arg615= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Arg619Gln Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Arg899Pro Single submitter LOXHD1-related disorder
  • p.Asn1005= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Asn1098Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn1904= Single submitter
  • p.Asn1934Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn2033= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Asn2241= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Asn237Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn326Ser Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Asn572= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Asp1094Gly Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Asp1971Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp435Asn Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Asp570Asn Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Asp605= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Asp649Asn Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Asp676Gly Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Asp694Tyr Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Cys1333= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Cys1344Phe Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Cys1413= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Cys2081= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Gln1150Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln1923Glu Single submitter Inborn genetic diseases ⚠
  • p.Glu1574Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu1838= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Glu2012Lys Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Glu2108Lys Single submitter hearing loss disorder ⚠
  • p.Glu955Gln Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Glu969= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Glu972Lys Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Glu976_Glu978del Single submitter
  • p.Gly1114Arg Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Gly1489Arg Single submitter LOXHD1-related disorder ⚠
  • p.Gly1509Glu Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Gly1911Arg Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Gly2261= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Gly322= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Gly626Cys Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Gly632Cys Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Gly632Ser Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Gly755Val Single submitter Inborn genetic diseases ⚠
  • p.His1093= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.His2084= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Ile1363= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Ile1824= Single submitter
  • p.Ile224Leu Single submitter Inborn genetic diseases ⚠
  • p.Ile388Val Single submitter Inborn genetic diseases ⚠
  • p.Leu1199= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Leu1312= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Leu1746Pro Single submitter ⚠
  • p.Leu577Arg Single submitter LOXHD1-related disorder ⚠
  • p.Leu635Pro Single submitter hearing loss disorder ⚠
  • p.Leu77= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Lys1797Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys1951= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Lys438Arg Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Met2050Val Single submitter Inborn genetic diseases ⚠
  • p.Met539Ile Single submitter Inborn genetic diseases ⚠
  • p.Phe2117del Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Phe2135= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Phe2175Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro654Leu Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Ser1151= Single submitter
  • p.Ser1225Gly Single submitter Inborn genetic diseases ⚠
  • p.Ser1924= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Ser500= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Ser629= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Ser648= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Ser769= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Ser957= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Ser960_Ser965dup Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Thr1030= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Thr1216= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Thr1314Ile Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Thr1383Arg Single submitter Inborn genetic diseases ⚠
  • p.Thr1476= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Thr1820Ser Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Thr2024Met Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Thr297Pro Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Thr895Ser Single submitter Inborn genetic diseases
  • p.Tyr1024Cys Single submitter LOXHD1-related disorder
  • p.Tyr1308= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Tyr1578= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Tyr2111= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Val1008= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Val1142= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Val1480= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Val1709fs Single submitter
  • p.Val2154= Single submitter autosomal recessive nonsyndromic hearing loss 77
  • p.Val415Gly Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Val581Ala Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠
  • p.Val770Ile Single submitter Stickler syndrome ⚠
  • p.Val906= Single submitter
  • p.Val92Ile Single submitter autosomal recessive nonsyndromic hearing loss 77 ⚠

Benign 71

Benign/Likely benign 28

  • c.3514+18T>C Multiple submitters
  • c.3619+9G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.3749-20del Multiple submitters
  • c.4530+107A>G Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.4531-19C>T Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.5399+13G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • c.5518-20G>C Multiple submitters
  • p.Ala2098Val Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Ala860= Multiple submitters
  • p.Asn2113= Multiple submitters
  • p.Asn725= Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Asp790= Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Cys1537= Multiple submitters
  • p.Cys1560= Multiple submitters
  • p.Glu1623Gly Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.His1956= Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Leu351= Multiple submitters
  • p.Lys11del Multiple submitters
  • p.Met1Lys Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Pro784= Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Ser1886= Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Thr1383Met Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Thr584= Multiple submitters
  • p.Tyr1723= Multiple submitters
  • p.Val1545= Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Val1608Ile Multiple submitters Inborn genetic diseases
  • p.Val363Ile Multiple submitters autosomal recessive nonsyndromic hearing loss 77
  • p.Val825Met Multiple submitters autosomal recessive nonsyndromic hearing loss 77

Likely benign 1361

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

Uncertain significance 899

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