BDP1 — 611 ClinVar variants
All ClinVar germline BDP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 341 flagged for review →
3 Likely pathogenic · 13 Conflicting · 133 Benign · 4 Benign/Likely benign · 142 Likely benign · 316 Uncertain significance
Full BDP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 341
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 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- BDP1 p.Arg757His Conflicting Single submitter
- BDP1 p.Gln2420Glu Conflicting Single submitter
- BDP1 p.Gln432Lys Conflicting Single submitter
- BDP1 p.Glu65Lys Conflicting Single submitter
- BDP1 p.Glu677Gly Conflicting Single submitter
- BDP1 p.Glu930Lys Conflicting Single submitter
- BDP1 p.Gly2346Arg Conflicting Single submitter
- BDP1 p.Thr1951Ala Conflicting Single submitter
Predictors lean, ClinVar uncertain 200
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 200
- BDP1 p.Pro1858Arg Uncertain significance Multiple submitters
- BDP1 p.Ala1192Val Uncertain significance Single submitter
- BDP1 p.Ala1448Thr Uncertain significance Single submitter
- BDP1 p.Ala1493Ser Uncertain significance Single submitter
- BDP1 p.Ala1635Gly Uncertain significance Single submitter
- BDP1 p.Ala1755Val Uncertain significance Single submitter
- BDP1 p.Ala1761Val Uncertain significance Single submitter
- BDP1 p.Ala2600Val Uncertain significance Single submitter
- BDP1 p.Ala40Val Uncertain significance Single submitter
- BDP1 p.Ala502Pro Uncertain significance Single submitter
- BDP1 p.Ala552Val Uncertain significance Single submitter
- BDP1 p.Ala626Thr Uncertain significance Single submitter
- BDP1 p.Ala733Val Uncertain significance Single submitter
- BDP1 p.Ala744Thr Uncertain significance Single submitter
- BDP1 p.Ala844Val Uncertain significance Single submitter
- BDP1 p.Ala846Val Uncertain significance Single submitter
- BDP1 p.Ala881Thr Uncertain significance Single submitter
- BDP1 p.Arg1570Gln Uncertain significance Single submitter
- BDP1 p.Arg1745Thr Uncertain significance Single submitter
- BDP1 p.Arg1850Gln Uncertain significance Single submitter
- BDP1 p.Arg2391Ile Uncertain significance Single submitter
- BDP1 p.Arg2450Ile Uncertain significance Single submitter
- BDP1 p.Arg2539Lys Uncertain significance Single submitter
- BDP1 p.Arg2544Ile Uncertain significance Single submitter
- BDP1 p.Arg400Gln Uncertain significance Single submitter
- BDP1 p.Arg447Lys Uncertain significance Single submitter
- BDP1 p.Arg465Lys Uncertain significance Single submitter
- BDP1 p.Arg700Lys Uncertain significance Single submitter
- BDP1 p.Arg757Leu Uncertain significance Single submitter
- BDP1 p.Asn1508Ser Uncertain significance Single submitter
- BDP1 p.Asn1527Asp Uncertain significance Single submitter
- BDP1 p.Asn1826Ser Uncertain significance Single submitter
- BDP1 p.Asn2153Lys Uncertain significance Single submitter
- BDP1 p.Asn2226Asp Uncertain significance Single submitter
- BDP1 p.Asn2515Asp Uncertain significance Single submitter
- BDP1 p.Asn2574Ile Uncertain significance Single submitter
- BDP1 p.Asn297Thr Uncertain significance Single submitter
- BDP1 p.Asn479Asp Uncertain significance Single submitter
- BDP1 p.Asn483Asp Uncertain significance Single submitter
- BDP1 p.Asn738Ser Uncertain significance Single submitter
- BDP1 p.Asn772Asp Uncertain significance Single submitter
- BDP1 p.Asn787Asp Uncertain significance Single submitter
- BDP1 p.Asn787Lys Uncertain significance Single submitter
- BDP1 p.Asp1351His Uncertain significance Single submitter
- BDP1 p.Asp1611Gly Uncertain significance Single submitter
- BDP1 p.Asp180Tyr Uncertain significance Single submitter
- BDP1 p.Asp1875Asn Uncertain significance Single submitter
- BDP1 p.Asp1877Ala Uncertain significance Single submitter
- BDP1 p.Asp1974Gly Uncertain significance Single submitter
- BDP1 p.Asp2020Asn Uncertain significance Single submitter
- BDP1 p.Asp2303Asn Uncertain significance Single submitter
- BDP1 p.Asp2303Glu Uncertain significance Single submitter
- BDP1 p.Asp2353Gly Uncertain significance Single submitter
- BDP1 p.Asp434His Uncertain significance Single submitter
- BDP1 p.Asp57Glu Uncertain significance Single submitter
- BDP1 p.Asp745His Uncertain significance Single submitter
- BDP1 p.Asp754Gly Uncertain significance Single submitter
- BDP1 p.Asp80Glu Uncertain significance Single submitter
- BDP1 p.Asp854Gly Uncertain significance Single submitter
- BDP1 p.Cys1748Arg Uncertain significance Single submitter
- BDP1 p.Cys1797Arg Uncertain significance Single submitter
- BDP1 p.Cys410Gly Uncertain significance Single submitter
- BDP1 p.Gln1541Lys Uncertain significance Single submitter
- BDP1 p.Gln1708Glu Uncertain significance Single submitter
- BDP1 p.Gln1917Arg Uncertain significance Single submitter
- BDP1 p.Gln2005Lys Uncertain significance Single submitter
- BDP1 p.Gln2040Glu Uncertain significance Single submitter
- BDP1 p.Gln2259His Uncertain significance Single submitter
- BDP1 p.Gln2524Arg Uncertain significance Single submitter
- BDP1 p.Gln776Glu Uncertain significance Single submitter
- BDP1 p.Gln793Glu Uncertain significance Single submitter
- BDP1 p.Glu1018Asp Uncertain significance Single submitter
- BDP1 p.Glu1156Lys Uncertain significance Single submitter
- BDP1 p.Glu1358Asp Uncertain significance Single submitter
- BDP1 p.Glu1478Gly Uncertain significance Single submitter
- BDP1 p.Glu1774Gly Uncertain significance Single submitter
- BDP1 p.Glu1874Asp Uncertain significance Single submitter
- BDP1 p.Glu2434Lys Uncertain significance Single submitter
- BDP1 p.Glu440Gln Uncertain significance Single submitter
- BDP1 p.Glu561Gly Uncertain significance Single submitter
- BDP1 p.Glu606Ala Uncertain significance Single submitter
- BDP1 p.Glu638Gln Uncertain significance Single submitter
- BDP1 p.Glu763Gly Uncertain significance Single submitter
- BDP1 p.Gly1587Arg Uncertain significance Single submitter
- BDP1 p.Gly16Ala Uncertain significance Single submitter
- BDP1 p.Gly1981Arg Uncertain significance Single submitter
- BDP1 p.Gly241Glu Uncertain significance Single submitter
- BDP1 p.Gly2448Arg Uncertain significance Single submitter
- BDP1 p.Gly489Val Uncertain significance Single submitter
- BDP1 p.Gly526Ser Uncertain significance Single submitter
- BDP1 p.His1391Arg Uncertain significance Single submitter
- BDP1 p.His2023Arg Uncertain significance Single submitter
- BDP1 p.His645Arg Uncertain significance Single submitter
- BDP1 p.His751Arg Uncertain significance Single submitter
- BDP1 p.Ile1252Thr Uncertain significance Single submitter
- BDP1 p.Ile1355Val Uncertain significance Single submitter
- BDP1 p.Ile1386Phe Uncertain significance Single submitter
- BDP1 p.Ile1513Thr Uncertain significance Single submitter
- BDP1 p.Ile1663Val Uncertain significance Single submitter
- BDP1 p.Ile172Thr Uncertain significance Single submitter
- BDP1 p.Ile1817Leu Uncertain significance Single submitter
- BDP1 p.Ile1817Val Uncertain significance Single submitter
- BDP1 p.Ile2047Thr Uncertain significance Single submitter
- BDP1 p.Ile2568Thr Uncertain significance Single submitter
- BDP1 p.Ile282Val Uncertain significance Single submitter
- BDP1 p.Ile602Leu Uncertain significance Single submitter
- BDP1 p.Ile665Thr Uncertain significance Single submitter
- BDP1 p.Ile731Val Uncertain significance Single submitter
- BDP1 p.Ile888Ser Uncertain significance Single submitter
- BDP1 p.Leu1650Ile Uncertain significance Single submitter
- BDP1 p.Leu1729His Uncertain significance Single submitter
- BDP1 p.Leu1740Pro Uncertain significance Single submitter
- BDP1 p.Leu1763Val Uncertain significance Single submitter
- BDP1 p.Leu1944Val Uncertain significance Single submitter
- BDP1 p.Leu2561Val Uncertain significance Single submitter
- BDP1 p.Leu612Ser Uncertain significance Single submitter
- BDP1 p.Leu663Val Uncertain significance Single submitter
- BDP1 p.Leu725Val Uncertain significance Single submitter
- BDP1 p.Lys10Arg Uncertain significance Single submitter
- BDP1 p.Lys1239Asn Uncertain significance Single submitter
- BDP1 p.Lys1464Asn Uncertain significance Single submitter
- BDP1 p.Lys1470Asn Uncertain significance Single submitter
- BDP1 p.Lys1746Thr Uncertain significance Single submitter
- BDP1 p.Lys1852Glu Uncertain significance Single submitter
- BDP1 p.Lys2058Glu Uncertain significance Single submitter
- BDP1 p.Lys2129Glu Uncertain significance Single submitter
- BDP1 p.Lys224Glu Uncertain significance Single submitter
- BDP1 p.Lys406Arg Uncertain significance Single submitter
- BDP1 p.Lys628Glu Uncertain significance Single submitter
- BDP1 p.Lys784Arg Uncertain significance Single submitter
- BDP1 p.Met1471Val Uncertain significance Single submitter
- BDP1 p.Met1561Arg Uncertain significance Single submitter
- BDP1 p.Met1561Ile Uncertain significance Single submitter
- BDP1 p.Met186Val Uncertain significance Single submitter
- BDP1 p.Met317Thr Uncertain significance Single submitter
- BDP1 p.Met421Thr Uncertain significance Single submitter
- BDP1 p.Phe1344Ile Uncertain significance Single submitter
- BDP1 p.Phe189Ser Uncertain significance Single submitter
- BDP1 p.Phe311Leu Uncertain significance Single submitter
- BDP1 p.Pro1432Leu Uncertain significance Single submitter
- BDP1 p.Pro1487Thr Uncertain significance Single submitter
- BDP1 p.Pro1632Ala Uncertain significance Single submitter
- BDP1 p.Pro1798Ala Uncertain significance Single submitter
-
BDP1 p.Pro1963Leu
Uncertain significance
Single submitter
hearing loss, autosomal recessive 112
- BDP1 p.Pro2245Ala Uncertain significance Single submitter
- BDP1 p.Pro2294Ser Uncertain significance Single submitter
- BDP1 p.Pro2358Leu Uncertain significance Single submitter
- BDP1 p.Pro2464Arg Uncertain significance Single submitter
- BDP1 p.Pro2536Thr Uncertain significance Single submitter
- BDP1 p.Pro36Ser Uncertain significance Single submitter
Predictors split 132
The independent predictors disagree with each other — read with care.
- BDP1 p.Ala1280Gly Benign Multiple submitters
- BDP1 p.Arg1022Lys Benign Multiple submitters
- BDP1 p.Arg1850Trp Benign/Likely benign Multiple submitters
- BDP1 p.Arg880Gly Uncertain significance Multiple submitters
-
BDP1 p.Arg935Ile
Uncertain significance
Multiple submitters
hearing loss, autosomal recessive 112
- BDP1 p.Glu1139Val Uncertain significance Multiple submitters
- BDP1 p.Glu1201Ala Likely benign Multiple submitters
- BDP1 p.Lys354Glu Uncertain significance Multiple submitters
- BDP1 p.Lys722Glu Benign Multiple submitters
- BDP1 p.Pro916Arg Likely benign Multiple submitters
-
BDP1 p.Val1347Met
Benign
Multiple submitters
hearing loss, autosomal recessive 112
- BDP1 p.Val1546Phe Benign Multiple submitters
- BDP1 p.Val216Phe Uncertain significance Multiple submitters
-
BDP1 p.Val778Met
Benign
Multiple submitters
hearing loss, autosomal recessive 112
- BDP1 p.Ala1083Thr Likely benign Single submitter
- BDP1 p.Ala1137Thr Uncertain significance Single submitter
- BDP1 p.Ala1448Gly Uncertain significance Single submitter
- BDP1 p.Ala1449Pro Uncertain significance Single submitter
- BDP1 p.Ala1985Val Uncertain significance Single submitter
- BDP1 p.Ala333Gly Uncertain significance Single submitter
- BDP1 p.Arg1150Gly Uncertain significance Single submitter
- BDP1 p.Arg1580Ser Uncertain significance Single submitter
- BDP1 p.Arg1844Cys Uncertain significance Single submitter
- BDP1 p.Arg1844His Likely benign Single submitter
-
BDP1 p.Arg1848Pro
Uncertain significance
Single submitter
hearing loss, autosomal recessive 112
- BDP1 p.Arg1869Trp Uncertain significance Single submitter
- BDP1 p.Arg2530Cys Uncertain significance Single submitter
- BDP1 p.Arg2599Trp Uncertain significance Single submitter
- BDP1 p.Arg360Cys Likely benign Single submitter
- BDP1 p.Arg360His Uncertain significance Single submitter
- BDP1 p.Arg400Trp Uncertain significance Single submitter
- BDP1 p.Arg4Ser Uncertain significance Single submitter
- BDP1 p.Arg613Gly Uncertain significance Single submitter
- BDP1 p.Arg615Gly Uncertain significance Single submitter
- BDP1 p.Arg615His Uncertain significance Single submitter
- BDP1 p.Arg625Gly Uncertain significance Single submitter
- BDP1 p.Arg810Gln Uncertain significance Single submitter
- BDP1 p.Arg94Ser Benign Single submitter
- BDP1 p.Asn297Lys Uncertain significance Single submitter
- BDP1 p.Asn997Asp Uncertain significance Single submitter
- BDP1 p.Asp1006Glu Uncertain significance Single submitter
- BDP1 p.Asp1090Tyr Uncertain significance Single submitter
- BDP1 p.Asp1405Tyr Uncertain significance Single submitter
- BDP1 p.Asp1875His Uncertain significance Single submitter
- BDP1 p.Asp365Asn Uncertain significance Single submitter
- BDP1 p.Asp975Val Uncertain significance Single submitter
- BDP1 p.Asp981Glu Uncertain significance Single submitter
- BDP1 p.Cys2170Trp Uncertain significance Single submitter
-
BDP1 p.Cys274Tyr
Uncertain significance
Single submitter
hearing loss, autosomal recessive 112
- BDP1 p.Glu1041Gly Likely benign Single submitter
- BDP1 p.Glu1088Lys Uncertain significance Single submitter
- BDP1 p.Glu1179Lys Uncertain significance Single submitter
- BDP1 p.Glu1243Val Uncertain significance Single submitter
- BDP1 p.Glu1266Ala Benign Single submitter
- BDP1 p.Glu1279Gly Uncertain significance Single submitter
- BDP1 p.Glu1307Lys Uncertain significance Single submitter
- BDP1 p.Glu1368Gly Uncertain significance Single submitter
- BDP1 p.Glu157Gln Uncertain significance Single submitter
- BDP1 p.Glu157Val Uncertain significance Single submitter
- BDP1 p.Glu162Gln Uncertain significance Single submitter
- BDP1 p.Glu1895Lys Uncertain significance Single submitter
- BDP1 p.Glu537Gly Uncertain significance Single submitter
- BDP1 p.Glu674Asp Uncertain significance Single submitter
- BDP1 p.Glu686Gly Uncertain significance Single submitter
- BDP1 p.Gly1068Arg Uncertain significance Single submitter
- BDP1 p.Gly1122Arg Likely benign Single submitter
- BDP1 p.Gly1159Asp Uncertain significance Single submitter
- BDP1 p.Gly1258Arg Uncertain significance Single submitter
- BDP1 p.Gly16Arg Uncertain significance Single submitter
- BDP1 p.Gly878Arg Uncertain significance Single submitter
- BDP1 p.Ile1029Thr Uncertain significance Single submitter
- BDP1 p.Ile1035Met Uncertain significance Single submitter
- BDP1 p.Ile1087Arg Likely benign Single submitter
- BDP1 p.Ile1153Val Uncertain significance Single submitter
- BDP1 p.Ile1190Val Uncertain significance Single submitter
- BDP1 p.Ile2616Thr Uncertain significance Single submitter
- BDP1 p.Ile937Leu Uncertain significance Single submitter
- BDP1 p.Leu1173Trp Uncertain significance Single submitter
- BDP1 p.Leu1989Val Uncertain significance Single submitter
- BDP1 p.Leu2242Phe Uncertain significance Single submitter
-
BDP1 p.Leu2364Phe
Uncertain significance
Single submitter
hearing loss, autosomal recessive 112
- BDP1 p.Leu577Phe Uncertain significance Single submitter
- BDP1 p.Leu632Phe Uncertain significance Single submitter
- BDP1 p.Leu684Phe Uncertain significance Single submitter
- BDP1 p.Leu7Phe Uncertain significance Single submitter
- BDP1 p.Leu834Arg Uncertain significance Single submitter
- BDP1 p.Lys1065Gln Uncertain significance Single submitter
- BDP1 p.Lys1076Arg Uncertain significance Single submitter
- BDP1 p.Lys1304Glu Uncertain significance Single submitter
- BDP1 p.Lys948Glu Uncertain significance Single submitter
- BDP1 p.Phe2Leu Uncertain significance Single submitter
- BDP1 p.Phe362Ile Uncertain significance Single submitter
- BDP1 p.Pro39His Uncertain significance Single submitter
- BDP1 p.Pro711Arg Uncertain significance Single submitter
- BDP1 p.Pro999Ala Uncertain significance Single submitter
- BDP1 p.Ser1071Thr Benign Single submitter
- BDP1 p.Ser1099Cys Uncertain significance Single submitter
- BDP1 p.Ser1154Pro Uncertain significance Single submitter
- BDP1 p.Ser1154Thr Uncertain significance Single submitter
- BDP1 p.Ser115Phe Uncertain significance Single submitter
- BDP1 p.Ser1208Leu Uncertain significance Single submitter
- BDP1 p.Ser1436Cys Uncertain significance Single submitter
- BDP1 p.Ser1961Cys Uncertain significance Single submitter
- BDP1 p.Ser2071Arg Uncertain significance Single submitter
- BDP1 p.Ser22Phe Uncertain significance Single submitter
- BDP1 p.Ser2366Phe Uncertain significance Single submitter
- BDP1 p.Ser25Tyr Uncertain significance Single submitter
- BDP1 p.Ser2609Cys Uncertain significance Single submitter
- BDP1 p.Thr1010Ser Uncertain significance Single submitter
- BDP1 p.Thr1015Pro Conflicting Single submitter
- BDP1 p.Thr1062Met Uncertain significance Single submitter
- BDP1 p.Thr1131Ala Uncertain significance Single submitter
- BDP1 p.Thr1148Ile Uncertain significance Single submitter
- BDP1 p.Thr1176Asn Uncertain significance Single submitter
- BDP1 p.Thr1983Asn Uncertain significance Single submitter
- BDP1 p.Thr270Lys Uncertain significance Single submitter
- BDP1 p.Thr41Met Uncertain significance Single submitter
- BDP1 p.Thr915Met Uncertain significance Single submitter
- BDP1 p.Tyr298Cys Uncertain significance Single submitter
- BDP1 p.Val1054Ala Conflicting Single submitter
- BDP1 p.Val1240Leu Uncertain significance Single submitter
- BDP1 p.Val1434Met Uncertain significance Single submitter
- BDP1 p.Val1620Met Uncertain significance Single submitter
- BDP1 p.Val1949Met Conflicting Single submitter
-
BDP1 p.Val2204Phe
Conflicting
Single submitter
Waardenburg syndrome
- BDP1 p.Val2401Met Uncertain significance Single submitter
- BDP1 p.Val704Ala Uncertain significance Single submitter
- BDP1 p.Val851Ile Uncertain significance Single submitter
- BDP1 p.Val973Met Uncertain significance Single submitter
- BDP1 p.Val9Leu Uncertain significance Single submitter
-
BDP1 p.Ile1355Met
Likely benign
No assertion criteria
BDP1-related disorder
- BDP1 p.Thr1203Ile Uncertain significance No assertion criteria
All BDP1 variants
Likely pathogenic 3
- p.Gly2419_Gln2420delinsIleSerTer Single submitter hearing loss, autosomal recessive 112
- p.Ser1915fs Single submitter hearing loss, autosomal recessive 112
- p.Val572Phe No assertion criteria Deafness ⚠
Conflicting classifications of pathogenicity 13
- p.Arg757His Single submitter ⚠
- p.Gln2420Glu Single submitter ⚠
- p.Gln432Lys Single submitter ⚠
- p.Glu65Lys Single submitter ⚠
- p.Glu677Gly Single submitter ⚠
- p.Glu930Lys Single submitter ⚠
- p.Gly2346Arg Single submitter ⚠
- p.Ter2625Glu Single submitter hearing loss, autosomal recessive 112
- p.Thr1015Pro Single submitter ⚠
- p.Thr1951Ala Single submitter ⚠
- p.Val1054Ala Single submitter ⚠
- p.Val1949Met Single submitter ⚠
- p.Val2204Phe Single submitter Waardenburg syndrome ⚠
Benign 133
- c.1493-96T>G Multiple submitters
- c.1641-67T>A Multiple submitters
- c.2048+19G>C Multiple submitters
- c.2241+32G>T Multiple submitters
- c.4059+95C>T Multiple submitters
- c.4060-77G>A Multiple submitters hearing loss, autosomal recessive 112
- c.4650-67A>G Multiple submitters
- c.5893-166A>C Multiple submitters
- c.5893-36G>A Multiple submitters hearing loss, autosomal recessive 112
- c.5929+21T>C Multiple submitters
- c.6563+99A>G Multiple submitters
- c.7201-102G>A Multiple submitters
- c.7497-12T>C Multiple submitters
- c.7744-88T>C Multiple submitters
- c.785+143A>G Multiple submitters
- c.786-93A>G Multiple submitters
- p.Ala125Val Multiple submitters
- p.Ala1280Gly Multiple submitters ⚠
- p.Arg1022Lys Multiple submitters ⚠
- p.Arg2530= Multiple submitters
- p.Arg504Ser Multiple submitters
- p.Arg757Cys Multiple submitters
- p.Asn2555Ser Multiple submitters
- p.Asp38Glu Multiple submitters hearing loss, autosomal recessive 112
- p.Gln1676Glu Multiple submitters
- p.Gly1180Ser Multiple submitters hearing loss, autosomal recessive 112
- p.Ile1264Met Multiple submitters hearing loss, autosomal recessive 112
- p.Ile1972= Multiple submitters
- p.Ile2013Leu Multiple submitters hearing loss, autosomal recessive 112
- p.Leu2154= Multiple submitters hearing loss, autosomal recessive 112
- p.Lys1218= Multiple submitters
- p.Lys1469Glu Multiple submitters hearing loss, autosomal recessive 112
- p.Lys2321Arg Multiple submitters
- p.Lys722Glu Multiple submitters ⚠
- p.Met1677Ile Multiple submitters
- p.Met2201Val Multiple submitters
- p.Phe1244Ile Multiple submitters hearing loss, autosomal recessive 112
- p.Pro1669Gln Multiple submitters
- p.Pro1963= Multiple submitters
- p.Pro2358= Multiple submitters hearing loss, autosomal recessive 112
- p.Thr1928= Multiple submitters
- p.Thr2252Pro Multiple submitters
- p.Thr2580Ala Multiple submitters
- p.Val1347Met Multiple submitters hearing loss, autosomal recessive 112 ⚠
- p.Val1546Phe Multiple submitters ⚠
- p.Val275Ile Multiple submitters
- p.Val778Met Multiple submitters hearing loss, autosomal recessive 112 ⚠
- c.1070-94_1070-91del Single submitter
- c.1213+224C>G Single submitter
- c.1493-84_1493-83insCA Single submitter
- c.1641-218G>A Single submitter
- c.1641-3dup Single submitter
- c.1799+30A>G Single submitter
- c.2048+38_2048+40del Single submitter
- c.2048+39_2048+40del Single submitter
- c.2048+40del Single submitter
- c.2048+40dup Single submitter
- c.2049-144C>T Single submitter
- c.2049-178G>A Single submitter
- c.2049-285G>A Single submitter
- c.213-244G>C Single submitter
- c.2241+273C>G Single submitter
- c.2241+288A>T Single submitter
- c.2242-169A>T Single submitter
- c.2373-112T>C Single submitter
- c.2373-15del Single submitter
- c.2373-22G>T Single submitter
- c.2373-23T>C Single submitter
- c.2373-5del Single submitter
- c.4059+44del Single submitter
- c.4247+30T>C Single submitter
- c.4248-97del Single submitter
- c.4248-97dup Single submitter
- c.4248-98_4248-97del Single submitter
- c.4470+50del Single submitter
- c.4992-216A>G Single submitter
- c.5193+28dup Single submitter
- c.5193+30T>G Single submitter
- c.5387+101A>G Single submitter
- c.5772+217_5772+218insAAT Single submitter
- c.5772+270dup Single submitter
- c.5772+330del Single submitter
- c.5773-160G>A Single submitter
- c.5892+164TTTG[2] Single submitter
- c.5929+187G>A Single submitter
- c.5929+48T>A Single submitter
- c.599+52_599+53del Single submitter
- c.599+52_599+53dup Single submitter
- c.599+53del Single submitter
- c.599+53dup Single submitter
- c.600-128C>T Single submitter
- c.600-212del Single submitter
- c.600-213_600-212del Single submitter
- c.6022+255_6022+271del Single submitter
- c.6023-320_6023-317dup Single submitter
- c.6023-7del Single submitter
- c.6023-7dup Single submitter
- c.6412+300C>T Single submitter
- c.6413-188G>C Single submitter
- c.6564-133_6564-132insAGAA Single submitter
- c.6564-259C>T Single submitter
- c.659+47A>C Single submitter
- c.6745-11T>C Single submitter
- c.6809-184_6809-183insG Single submitter
- c.6996-161G>A Single submitter
- c.6996-237C>T Single submitter
- c.6996-260T>C Single submitter
- c.6996-300G>C Single submitter
- c.6996-54del Single submitter
- c.7200+161T>C Single submitter
- c.7200+250A>G Single submitter
- c.7240+270A>G Single submitter
- c.7240+310T>A Single submitter
- c.7496+314A>C Single submitter
- c.7497-179G>C Single submitter
- c.7497-238A>G Single submitter
- c.7743+261T>C Single submitter
- c.786-122G>A Single submitter
- c.786-229T>C Single submitter
- c.786-246G>A Single submitter
- c.786-292C>G Single submitter
- c.919+147C>T Single submitter
- p.Arg94Ser Single submitter ⚠
- p.Asn26Ser Single submitter
- p.Glu1266Ala Single submitter ⚠
- p.Gly716= Single submitter
- p.Ile837Ser Single submitter
- p.Lys1424= Single submitter
- p.Lys401= Single submitter
- p.Ser1071Thr Single submitter ⚠
- p.Ser1634= Single submitter
- p.Ser213Leu Single submitter
- p.Tyr2397Asp Single submitter
Benign/Likely benign 4
- c.2373-15C>T Multiple submitters hearing loss, autosomal recessive 112
- p.Arg1850Trp Multiple submitters ⚠
- p.Ile726Leu Multiple submitters
- p.Ser1526= Multiple submitters
Likely benign 142
- c.1015-58A>T Multiple submitters
- c.1069+24A>G Multiple submitters
- c.1640+33A>C Multiple submitters
- c.1956+60G>A Multiple submitters
- c.1957-133C>T Multiple submitters
- c.4060-10G>A Multiple submitters
- c.4247+52G>A Multiple submitters
- c.4650-76A>G Multiple submitters
- c.4650-80A>G Multiple submitters
- c.5772+62T>C Multiple submitters
- c.599+8A>G Multiple submitters
- c.6808+123G>A Multiple submitters
- c.-80A>T Multiple submitters
- p.Ala1685Pro Multiple submitters
- p.Asn2549Ser Multiple submitters
- p.Glu1201Ala Multiple submitters ⚠
- p.Lys737Arg Multiple submitters
- p.Pro916Arg Multiple submitters ⚠
- p.Ser1633= Multiple submitters
- p.Thr1983= Multiple submitters
- p.Thr2048= Multiple submitters
- p.Thr850= Multiple submitters
- p.Val1656Ile Multiple submitters
- p.Val2525= Multiple submitters
- c.1014+113T>C Single submitter
- c.1014+123A>G Single submitter
- c.1014+255C>T Single submitter
- c.1492+142G>A Single submitter
- c.1492+179del Single submitter
- c.1492+21A>G Single submitter
- c.1492+314A>G Single submitter
- c.1640+66del Single submitter
- c.1957-34dup Single submitter
- c.1957-4A>G Single submitter
- c.2048+39_2048+40dup Single submitter
- c.2241+273C>A Single submitter
- c.2241+291del Single submitter
- c.2241+291dup Single submitter
- c.4059+142A>G Single submitter
- c.4060-184T>G Single submitter
- c.4248-99_4248-97del Single submitter
- c.4470+19G>A Single submitter
- c.4470+50dup Single submitter
- c.4471-76T>C Single submitter
- c.4861-273A>G Single submitter
- c.5193+28del Single submitter
- c.5772+282TTTTTTA[2] Single submitter
- c.5773-150G>T Single submitter
- c.5893-14T>G Single submitter
- c.5893-237A>T Single submitter
- c.5929+11T>C Single submitter
- c.599+49_599+53dup Single submitter
- c.599+51_599+53del Single submitter
- c.599+51_599+53dup Single submitter
- c.6022+159A>G Single submitter
- c.6023-6C>T Single submitter
- c.6564-133_6564-132insAAAGAA Single submitter
- c.6564-133_6564-132insAAGAA Single submitter
- c.6564-134_6564-132dup Single submitter
- c.6564-135A>G Single submitter
- c.6564-214dup Single submitter
- c.6744+52A>T Single submitter
- c.6808+6A>G Single submitter
- c.6996-186dup Single submitter
- c.6996-281GGGAGA[2] Single submitter
- c.7200+271A>G Single submitter
- c.7200+293A>G Single submitter
- c.7240+22A>C Single submitter
- c.7240+294G>A Single submitter
- c.7240+306C>T Single submitter
- c.7496+309T>C Single submitter
- c.7496+80T>C Single submitter
- c.7497-193A>G Single submitter
- c.7743+298C>G Single submitter
- c.786-270T>C Single submitter
- c.786-279C>G Single submitter
- c.786-297_786-296del Single submitter
- c.920-265C>G Single submitter
- c.920-27A>G Single submitter
- c.*20C>T Single submitter
- p.Ala1083Thr Single submitter ⚠
- p.Ala130= Single submitter
- p.Ala1635Thr Single submitter
- p.Ala1734Thr Single submitter
- p.Ala845= Single submitter
- p.Arg1691= Single submitter
- p.Arg1844His Single submitter ⚠
- p.Arg2599Gln Single submitter
- p.Arg360Cys Single submitter ⚠
- p.Arg989Lys Single submitter
- p.Asn1289Ile Single submitter
- p.Asn2114= Single submitter
- p.Asn2264Ser Single submitter
- p.Asn2614Ser Single submitter
- p.Asn415= Single submitter
- p.Asn582= Single submitter
- p.Asp1394Gly Single submitter
- p.Asp2421Gly Single submitter
- p.Cys743Arg Single submitter
- p.Gln1645= Single submitter
- p.Gln2342= Single submitter
- p.Glu1041Gly Single submitter ⚠
- p.Glu1888= Single submitter
- p.Glu730= Single submitter
- p.Gly1122Arg Single submitter ⚠
- p.Gly1294Arg Single submitter
- p.Gly1604Glu Single submitter
- p.Ile1087Arg Single submitter ⚠
- p.Ile121Val Single submitter
- p.Ile1230Val Single submitter
- p.Ile1413Thr Single submitter
- p.Ile2179= Single submitter
- p.Ile2616= Single submitter
- p.Ile588Thr Single submitter
- p.Lys647Glu Single submitter
- p.Met2456Ile Single submitter
- p.Met421Val Single submitter
- p.Phe1557Leu Single submitter
- p.Phe2308Leu Single submitter
- p.Pro1579= Single submitter
- p.Pro2452del Single submitter
- p.Ser1361Leu Single submitter
- p.Ser2124Gly Single submitter
- p.Ser563= Single submitter
- p.Ser756= Single submitter
- p.Thr1062= Single submitter
- p.Thr1328= Single submitter
- p.Thr2338= Single submitter
- p.Thr55= Single submitter
- p.Thr915= Single submitter
- p.Val1649Ile Single submitter
- p.Val2076= Single submitter
- p.Val2320= Single submitter
- p.Val408Ile Single submitter
- p.Val792Ile Single submitter
- c.6413-4T>C No assertion criteria BDP1-related disorder
- p.Glu284= No assertion criteria BDP1-related disorder
- p.Gly2130= No assertion criteria BDP1-related disorder
- p.Ile1355Met No assertion criteria BDP1-related disorder ⚠
- p.Leu708= No assertion criteria BDP1-related disorder
- p.Pro769= No assertion criteria BDP1-related disorder
- p.Thr2432Ala No assertion criteria BDP1-related disorder
Uncertain significance 316
Showing the top 300 by review status; the full set is in the sitemap.
- p.Arg880Gly Multiple submitters ⚠
- p.Arg935Ile Multiple submitters hearing loss, autosomal recessive 112 ⚠
- p.Glu1139Val Multiple submitters ⚠
- p.Lys354Glu Multiple submitters ⚠
- p.Pro1858Arg Multiple submitters ⚠
- p.Val216Phe Multiple submitters ⚠
- c.6809-2A>G Single submitter hearing loss, autosomal recessive 112
- c.7744-1G>A Single submitter hearing loss disorder
- c.*1107T>C Single submitter hearing loss, autosomal recessive 112
- p.Ala1137Thr Single submitter ⚠
- p.Ala1192Val Single submitter ⚠
- p.Ala1448Gly Single submitter ⚠
- p.Ala1448Thr Single submitter ⚠
- p.Ala1449Pro Single submitter ⚠
- p.Ala1493Ser Single submitter ⚠
- p.Ala1635Gly Single submitter ⚠
- p.Ala1755Val Single submitter ⚠
- p.Ala1761Val Single submitter ⚠
- p.Ala1985Val Single submitter ⚠
- p.Ala2600Val Single submitter ⚠
- p.Ala333Gly Single submitter ⚠
- p.Ala40Val Single submitter ⚠
- p.Ala502Pro Single submitter ⚠
- p.Ala552Val Single submitter ⚠
- p.Ala626Thr Single submitter ⚠
- p.Ala733Val Single submitter ⚠
- p.Ala744Thr Single submitter ⚠
- p.Ala844Val Single submitter ⚠
- p.Ala846Val Single submitter ⚠
- p.Ala881Thr Single submitter ⚠
- p.Arg1150Gly Single submitter ⚠
- p.Arg1293fs Single submitter
- p.Arg1371del Single submitter
- p.Arg1570Gln Single submitter ⚠
- p.Arg1580Ser Single submitter ⚠
- p.Arg1745Thr Single submitter ⚠
- p.Arg1844Cys Single submitter ⚠
- p.Arg1848Pro Single submitter hearing loss, autosomal recessive 112 ⚠
- p.Arg1850Gln Single submitter ⚠
- p.Arg1869Trp Single submitter ⚠
- p.Arg2391Ile Single submitter ⚠
- p.Arg2450Ile Single submitter ⚠
- p.Arg2530Cys Single submitter ⚠
- p.Arg2539Lys Single submitter ⚠
- p.Arg2544Ile Single submitter ⚠
- p.Arg2599Trp Single submitter ⚠
- p.Arg360His Single submitter ⚠
- p.Arg400Gln Single submitter ⚠
- p.Arg400Trp Single submitter ⚠
- p.Arg447Lys Single submitter ⚠
- p.Arg465Lys Single submitter ⚠
- p.Arg4Ser Single submitter ⚠
- p.Arg613Gly Single submitter ⚠
- p.Arg615Gly Single submitter ⚠
- p.Arg615His Single submitter ⚠
- p.Arg625Gly Single submitter ⚠
- p.Arg700Lys Single submitter ⚠
- p.Arg757Leu Single submitter ⚠
- p.Arg810Gln Single submitter ⚠
- p.Asn1508Ser Single submitter ⚠
- p.Asn1527Asp Single submitter ⚠
- p.Asn1826Ser Single submitter ⚠
- p.Asn2153Lys Single submitter ⚠
- p.Asn2226Asp Single submitter ⚠
- p.Asn2515Asp Single submitter ⚠
- p.Asn2574Ile Single submitter ⚠
- p.Asn297Lys Single submitter ⚠
- p.Asn297Thr Single submitter ⚠
- p.Asn479Asp Single submitter ⚠
- p.Asn483Asp Single submitter ⚠
- p.Asn738Ser Single submitter ⚠
- p.Asn772Asp Single submitter ⚠
- p.Asn787Asp Single submitter ⚠
- p.Asn787Lys Single submitter ⚠
- p.Asn997Asp Single submitter ⚠
- p.Asp1006Glu Single submitter ⚠
- p.Asp1090Tyr Single submitter ⚠
- p.Asp1351His Single submitter ⚠
- p.Asp1405Tyr Single submitter ⚠
- p.Asp1611Gly Single submitter ⚠
- p.Asp180Tyr Single submitter ⚠
- p.Asp1875Asn Single submitter ⚠
- p.Asp1875His Single submitter ⚠
- p.Asp1877Ala Single submitter ⚠
- p.Asp1974Gly Single submitter ⚠
- p.Asp2020Asn Single submitter ⚠
- p.Asp2303Asn Single submitter ⚠
- p.Asp2303Glu Single submitter ⚠
- p.Asp2353Gly Single submitter ⚠
- p.Asp365Asn Single submitter ⚠
- p.Asp434His Single submitter ⚠
- p.Asp57Glu Single submitter ⚠
- p.Asp745His Single submitter ⚠
- p.Asp754Gly Single submitter ⚠
- p.Asp80Glu Single submitter ⚠
- p.Asp854Gly Single submitter ⚠
- p.Asp975Val Single submitter ⚠
- p.Asp981Glu Single submitter ⚠
- p.Cys1748Arg Single submitter ⚠
- p.Cys1797Arg Single submitter ⚠
- p.Cys2170Trp Single submitter ⚠
- p.Cys274Tyr Single submitter hearing loss, autosomal recessive 112 ⚠
- p.Cys410Gly Single submitter ⚠
- p.Gln1541Lys Single submitter ⚠
- p.Gln1708Glu Single submitter ⚠
- p.Gln1917Arg Single submitter ⚠
- p.Gln2005Lys Single submitter ⚠
- p.Gln2040Glu Single submitter ⚠
- p.Gln2259His Single submitter ⚠
- p.Gln2524Arg Single submitter ⚠
- p.Gln703Ter Single submitter hearing loss, autosomal recessive 112
- p.Gln776Glu Single submitter ⚠
- p.Gln793Glu Single submitter ⚠
- p.Glu1018Asp Single submitter ⚠
- p.Glu1088Lys Single submitter ⚠
- p.Glu1156Lys Single submitter ⚠
- p.Glu1179Lys Single submitter ⚠
- p.Glu1243Val Single submitter ⚠
- p.Glu1279Gly Single submitter ⚠
- p.Glu1307Lys Single submitter ⚠
- p.Glu1358Asp Single submitter ⚠
- p.Glu1368Gly Single submitter ⚠
- p.Glu1478Gly Single submitter ⚠
- p.Glu157Gln Single submitter ⚠
- p.Glu157Val Single submitter ⚠
- p.Glu162Gln Single submitter ⚠
- p.Glu1774Gly Single submitter ⚠
- p.Glu1874Asp Single submitter ⚠
- p.Glu1895Lys Single submitter ⚠
- p.Glu2434Lys Single submitter ⚠
- p.Glu440Gln Single submitter ⚠
- p.Glu537Gly Single submitter ⚠
- p.Glu561Gly Single submitter ⚠
- p.Glu606Ala Single submitter ⚠
- p.Glu638Gln Single submitter ⚠
- p.Glu674Asp Single submitter ⚠
- p.Glu686Gly Single submitter ⚠
- p.Glu763Gly Single submitter ⚠
- p.Gly1068Arg Single submitter ⚠
- p.Gly1159Asp Single submitter ⚠
- p.Gly1258Arg Single submitter ⚠
- p.Gly1587Arg Single submitter ⚠
- p.Gly16Ala Single submitter ⚠
- p.Gly16Arg Single submitter ⚠
- p.Gly1981Arg Single submitter ⚠
- p.Gly241Glu Single submitter ⚠
- p.Gly2448Arg Single submitter ⚠
- p.Gly489Val Single submitter ⚠
- p.Gly526Ser Single submitter ⚠
- p.Gly878Arg Single submitter ⚠
- p.His1391Arg Single submitter ⚠
- p.His2023Arg Single submitter ⚠
- p.His645Arg Single submitter ⚠
- p.His751Arg Single submitter ⚠
- p.Ile1029Thr Single submitter ⚠
- p.Ile1035Met Single submitter ⚠
- p.Ile1153Val Single submitter ⚠
- p.Ile1190Val Single submitter ⚠
- p.Ile1252Thr Single submitter ⚠
- p.Ile1355Val Single submitter ⚠
- p.Ile1386Phe Single submitter ⚠
- p.Ile1513Thr Single submitter ⚠
- p.Ile1663Val Single submitter ⚠
- p.Ile172Thr Single submitter ⚠
- p.Ile1817Leu Single submitter ⚠
- p.Ile1817Val Single submitter ⚠
- p.Ile2047Thr Single submitter ⚠
- p.Ile2568Thr Single submitter ⚠
- p.Ile2616Thr Single submitter ⚠
- p.Ile282Val Single submitter ⚠
- p.Ile602Leu Single submitter ⚠
- p.Ile665Thr Single submitter ⚠
- p.Ile731Val Single submitter ⚠
- p.Ile888Ser Single submitter ⚠
- p.Ile937Leu Single submitter ⚠
- p.Leu1173Trp Single submitter ⚠
- p.Leu1650Ile Single submitter ⚠
- p.Leu1729His Single submitter ⚠
- p.Leu1740Pro Single submitter ⚠
- p.Leu1763Val Single submitter ⚠
- p.Leu1944Val Single submitter ⚠
- p.Leu1989Val Single submitter ⚠
- p.Leu2242Phe Single submitter ⚠
- p.Leu2364Phe Single submitter hearing loss, autosomal recessive 112 ⚠
- p.Leu2561Val Single submitter ⚠
- p.Leu577Phe Single submitter ⚠
- p.Leu612Ser Single submitter ⚠
- p.Leu632Phe Single submitter ⚠
- p.Leu663Val Single submitter ⚠
- p.Leu684Phe Single submitter ⚠
- p.Leu725Val Single submitter ⚠
- p.Leu7Phe Single submitter ⚠
- p.Leu834Arg Single submitter ⚠
- p.Lys1065Gln Single submitter ⚠
- p.Lys1076Arg Single submitter ⚠
- p.Lys10Arg Single submitter ⚠
- p.Lys1239Asn Single submitter ⚠
- p.Lys1304Glu Single submitter ⚠
- p.Lys1464Asn Single submitter ⚠
- p.Lys1470Asn Single submitter ⚠
- p.Lys1746Thr Single submitter ⚠
- p.Lys1852Glu Single submitter ⚠
- p.Lys2058Glu Single submitter ⚠
- p.Lys2129Glu Single submitter ⚠
- p.Lys224Glu Single submitter ⚠
- p.Lys406Arg Single submitter ⚠
- p.Lys628Glu Single submitter ⚠
- p.Lys784Arg Single submitter ⚠
- p.Lys948Glu Single submitter ⚠
- p.Met1471Val Single submitter ⚠
- p.Met1561Arg Single submitter ⚠
- p.Met1561Ile Single submitter ⚠
- p.Met186Val Single submitter ⚠
- p.Met317Thr Single submitter ⚠
- p.Met421Thr Single submitter ⚠
- p.Phe1344Ile Single submitter ⚠
- p.Phe189Ser Single submitter ⚠
- p.Phe2Leu Single submitter ⚠
- p.Phe311Leu Single submitter ⚠
- p.Phe362Ile Single submitter ⚠
- p.Pro1432Leu Single submitter ⚠
- p.Pro1487Thr Single submitter ⚠
- p.Pro1632Ala Single submitter ⚠
- p.Pro1798Ala Single submitter ⚠
- p.Pro1963Leu Single submitter hearing loss, autosomal recessive 112 ⚠
- p.Pro2245Ala Single submitter ⚠
- p.Pro2294Ser Single submitter ⚠
- p.Pro2358Leu Single submitter ⚠
- p.Pro2464Arg Single submitter ⚠
- p.Pro2536Thr Single submitter ⚠
- p.Pro36Ser Single submitter ⚠
- p.Pro39His Single submitter ⚠
- p.Pro54Ser Single submitter ⚠
- p.Pro63Leu Single submitter ⚠
- p.Pro711Arg Single submitter ⚠
- p.Pro780Thr Single submitter ⚠
- p.Pro999Ala Single submitter ⚠
- p.Ser1099Cys Single submitter ⚠
- p.Ser1154Pro Single submitter ⚠
- p.Ser1154Thr Single submitter ⚠
- p.Ser115Phe Single submitter ⚠
- p.Ser1208Leu Single submitter ⚠
- p.Ser1245Gly Single submitter ⚠
- p.Ser1327Asn Single submitter ⚠
- p.Ser1356Asn Single submitter ⚠
- p.Ser1436Cys Single submitter ⚠
- p.Ser1633Leu Single submitter ⚠
- p.Ser1633Pro Single submitter ⚠
- p.Ser1961Cys Single submitter ⚠
- p.Ser2022Ile Single submitter ⚠
- p.Ser2053Pro Single submitter ⚠
- p.Ser2071Arg Single submitter ⚠
- p.Ser2123Ala Single submitter ⚠
- p.Ser213Thr Single submitter ⚠
- p.Ser225Arg Single submitter ⚠
- p.Ser22Phe Single submitter ⚠
- p.Ser2366Phe Single submitter ⚠
- p.Ser2403Ala Single submitter ⚠
- p.Ser25Tyr Single submitter ⚠
- p.Ser2609Cys Single submitter ⚠
- p.Ser829Leu Single submitter ⚠
- p.Ser85Arg Single submitter ⚠
- p.Ser99Leu Single submitter ⚠
- p.Thr1010Ser Single submitter ⚠
- p.Thr1062Met Single submitter ⚠
- p.Thr1131Ala Single submitter ⚠
- p.Thr1148Ile Single submitter ⚠
- p.Thr1176Asn Single submitter ⚠
- p.Thr129Ala Single submitter ⚠
- p.Thr1326Ile Single submitter ⚠
- p.Thr1328Ala Single submitter ⚠
- p.Thr1334Ile Single submitter ⚠
- p.Thr133Ala Single submitter ⚠
- p.Thr1365Ile Single submitter ⚠
- p.Thr1503Ala Single submitter ⚠
- p.Thr1519Ile Single submitter ⚠
- p.Thr1551Ile Single submitter ⚠
- p.Thr1738Pro Single submitter ⚠
- p.Thr185Ala Single submitter ⚠
- p.Thr1983Asn Single submitter ⚠
- p.Thr1991Arg Single submitter ⚠
- p.Thr209Ser Single submitter ⚠
- p.Thr2128Asn Single submitter ⚠
- p.Thr2250Ala Single submitter ⚠
- p.Thr2269Ala Single submitter ⚠
- p.Thr2569Ile Single submitter ⚠
- p.Thr270Lys Single submitter ⚠
- p.Thr41Met Single submitter ⚠
- p.Thr564Pro Single submitter ⚠
- p.Thr72Ile Single submitter ⚠
- p.Thr855Ser Single submitter ⚠
- p.Thr915Met Single submitter ⚠
- p.Tyr298Cys Single submitter ⚠
- p.Val1240Leu Single submitter ⚠
- p.Val1347Ala Single submitter ⚠
- p.Val1377Gly Single submitter ⚠
- p.Val1434Met Single submitter ⚠
- p.Val1546Ile Single submitter ⚠
- p.Val1592Ala Single submitter ⚠
- p.Val1620Met Single submitter ⚠