CCDC50 — 310 ClinVar variants
All ClinVar germline CCDC50 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 11 Conflicting · 59 Benign · 3 Benign/Likely benign · 83 Likely benign · 152 Uncertain significance
Full CCDC50 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 92
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC50 p.Ala453Val Uncertain significance Multiple submitters
- CCDC50 p.Arg138Pro Uncertain significance Multiple submitters
- CCDC50 p.Lys328Met Uncertain significance Multiple submitters
- CCDC50 p.Lys333Gln Uncertain significance Multiple submitters
- CCDC50 p.Lys406Glu Uncertain significance Multiple submitters
- CCDC50 p.Pro411Thr Uncertain significance Multiple submitters
- CCDC50 p.Ala420Thr Uncertain significance Single submitter
- CCDC50 p.Ala421Thr Uncertain significance Single submitter
- CCDC50 p.Arg101Lys Uncertain significance Single submitter
- CCDC50 p.Arg138His Uncertain significance Single submitter
- CCDC50 p.Arg330Gly Uncertain significance Single submitter
- CCDC50 p.Arg466Gln Uncertain significance Single submitter
- CCDC50 p.Asn436Lys Uncertain significance Single submitter
- CCDC50 p.Asn45Ser Uncertain significance Single submitter
- CCDC50 p.Asp351Asn Uncertain significance Single submitter
-
CCDC50 p.Asp369Tyr
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 44
- CCDC50 p.Asp369Val Uncertain significance Single submitter
- CCDC50 p.Asp410Glu Uncertain significance Single submitter
- CCDC50 p.Asp429Asn Uncertain significance Single submitter
- CCDC50 p.Asp84Ala Uncertain significance Single submitter
- CCDC50 p.Cys85Phe Uncertain significance Single submitter
-
CCDC50 p.Gln36Arg
Uncertain significance
Single submitter
nonsyndromic genetic hearing loss
- CCDC50 p.Gln92Pro Uncertain significance Single submitter
- CCDC50 p.Glu133Gly Uncertain significance Single submitter
- CCDC50 p.Glu35Lys Uncertain significance Single submitter
- CCDC50 p.Glu427Asp Uncertain significance Single submitter
- CCDC50 p.Glu427Gly Uncertain significance Single submitter
- CCDC50 p.Glu427Lys Uncertain significance Single submitter
- CCDC50 p.Ile104Val Uncertain significance Single submitter
- CCDC50 p.Ile446Val Uncertain significance Single submitter
- CCDC50 p.Lys107Glu Uncertain significance Single submitter
- CCDC50 p.Lys424Thr Uncertain significance Single submitter
- CCDC50 p.Pro132Ser Uncertain significance Single submitter
- CCDC50 p.Pro339Ser Uncertain significance Single submitter
- CCDC50 p.Pro431Ser Uncertain significance Single submitter
- CCDC50 p.Pro431Thr Uncertain significance Single submitter
- CCDC50 p.Thr456Ser Uncertain significance Single submitter
- CCDC50 p.Tyr140Phe Uncertain significance Single submitter
- CCDC50 p.Tyr480Asp Uncertain significance Single submitter
Predictors split 49
The independent predictors disagree with each other — read with care.
- CCDC50 p.Arg383Gln Uncertain significance Multiple submitters
- CCDC50 p.Arg399Trp Uncertain significance Multiple submitters
-
CCDC50 p.Arg466Trp
Benign
Multiple submitters
nonsyndromic genetic hearing loss
- CCDC50 p.Arg76Cys Uncertain significance Multiple submitters
- CCDC50 p.Asp369Ala Uncertain significance Multiple submitters
- CCDC50 p.Glu118Gly Uncertain significance Multiple submitters
-
CCDC50 p.Glu412Lys
Uncertain significance
Multiple submitters
CCDC50-related disorder
-
CCDC50 p.Leu121Phe
Benign
Multiple submitters
nonsyndromic genetic hearing loss
- CCDC50 p.Lys394Arg Benign Multiple submitters
- CCDC50 p.Lys426Glu Benign/Likely benign Multiple submitters
- CCDC50 p.Lys476Glu Uncertain significance Multiple submitters
- CCDC50 p.Ser44Leu Uncertain significance Multiple submitters
- CCDC50 p.Ser469Leu Uncertain significance Multiple submitters
- CCDC50 p.Tyr480Cys Uncertain significance Multiple submitters
- CCDC50 p.Val336Ile Likely benign Multiple submitters
- CCDC50 p.Ala373Thr Uncertain significance Single submitter
- CCDC50 p.Ala387Thr Uncertain significance Single submitter
- CCDC50 p.Ala43Gly Uncertain significance Single submitter
- CCDC50 p.Ala43Thr Uncertain significance Single submitter
- CCDC50 p.Arg103Cys Uncertain significance Single submitter
- CCDC50 p.Arg114Cys Uncertain significance Single submitter
- CCDC50 p.Arg138Cys Uncertain significance Single submitter
- CCDC50 p.Arg19Gln Uncertain significance Single submitter
- CCDC50 p.Arg399Gln Uncertain significance Single submitter
- CCDC50 p.Arg407Ser Uncertain significance Single submitter
- CCDC50 p.Arg441Trp Uncertain significance Single submitter
-
CCDC50 p.Arg76His
Conflicting
Single submitter
hearing loss disorder
- CCDC50 p.Asn49Ser Uncertain significance Single submitter
- CCDC50 p.Asp111Gly Uncertain significance Single submitter
-
CCDC50 p.Gln57His
Uncertain significance
Single submitter
CCDC50-related disorder
-
CCDC50 p.Glu124Asp
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 44
- CCDC50 p.Glu348Gly Uncertain significance Single submitter
- CCDC50 p.Glu353Gln Uncertain significance Single submitter
- CCDC50 p.Glu65Gly Uncertain significance Single submitter
- CCDC50 p.Ile112Val Uncertain significance Single submitter
- CCDC50 p.Leu363Phe Uncertain significance Single submitter
- CCDC50 p.Leu363Val Uncertain significance Single submitter
-
CCDC50 p.Leu67Val
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 44
- CCDC50 p.Leu73Pro Uncertain significance Single submitter
- CCDC50 p.Lys128Glu Uncertain significance Single submitter
- CCDC50 p.Lys397Arg Uncertain significance Single submitter
- CCDC50 p.Lys435Gln Uncertain significance Single submitter
- CCDC50 p.Met386Lys Uncertain significance Single submitter
- CCDC50 p.Met386Thr Uncertain significance Single submitter
- CCDC50 p.Met386Val Uncertain significance Single submitter
- CCDC50 p.Ser143Arg Uncertain significance Single submitter
- CCDC50 p.Thr28Ile Uncertain significance Single submitter
- CCDC50 p.Val46Ala Uncertain significance Single submitter
- CCDC50 p.Val46Ile Likely benign Single submitter
All CCDC50 variants
Pathogenic 1
- p.Asp452fs Single submitter autosomal dominant nonsyndromic hearing loss 44
Likely pathogenic 1
- p.Gln268Ter Single submitter autosomal dominant nonsyndromic hearing loss 44
Conflicting classifications of pathogenicity 11
- c.1429+5G>A Single submitter
- p.Ala325Thr Single submitter
- p.Ala335Thr Single submitter ⚠
- p.Ala382Thr Single submitter ⚠
- p.Arg76His Single submitter hearing loss disorder ⚠
- p.Glu362del Single submitter
- p.Leu11= Single submitter
- p.Met342Thr Single submitter ⚠
- p.Pro411Ser Single submitter ⚠
- p.Ser200Leu Single submitter
- p.Ser206Phe Single submitter
Benign 59
- c.1092+43A>T Multiple submitters
- c.1092+58C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 44
- c.112+73G>T Multiple submitters
- c.113-131G>A Multiple submitters
- c.113-138A>G Multiple submitters
- c.1137+19C>G Multiple submitters
- c.1242+10G>A Multiple submitters autosomal dominant nonsyndromic hearing loss 44
- c.1243-87G>T Multiple submitters
- c.1322+28A>T Multiple submitters
- c.1323-93A>G Multiple submitters
- c.1429+54C>T Multiple submitters
- c.331-157G>A Multiple submitters
- c.331-162A>G Multiple submitters
- c.331-231G>A Multiple submitters
- c.448+169T>C Multiple submitters
- c.49+20A>G Multiple submitters
- c.50-4C>G Multiple submitters autosomal dominant nonsyndromic hearing loss 44
- c.976+56A>G Multiple submitters autosomal dominant nonsyndromic hearing loss 44
- c.976+6A>G Multiple submitters autosomal dominant nonsyndromic hearing loss 44
- c.976+97T>C Multiple submitters
- c.977-40C>T Multiple submitters
- p.Arg466Trp Multiple submitters nonsyndromic genetic hearing loss ⚠
- p.Arg76= Multiple submitters
- p.Asp295Tyr Multiple submitters autosomal dominant nonsyndromic hearing loss 44
- p.His217= Multiple submitters autosomal dominant nonsyndromic hearing loss 44
- p.Ile258Asn Multiple submitters autosomal dominant nonsyndromic hearing loss 44
- p.Leu121Phe Multiple submitters nonsyndromic genetic hearing loss ⚠
- p.Lys226= Multiple submitters
- p.Lys303Arg Multiple submitters autosomal dominant nonsyndromic hearing loss 44
- p.Lys394Arg Multiple submitters ⚠
- p.Met332Thr Multiple submitters autosomal dominant nonsyndromic hearing loss 44
- p.Ser209Leu Multiple submitters
- p.Ser423= Multiple submitters autosomal dominant nonsyndromic hearing loss 44
- c.1243-170C>T Single submitter
- c.1323-262G>T Single submitter
- c.1429+225G>A Single submitter
- c.1430-296C>T Single submitter
- c.240-84G>A Single submitter
- c.331-269C>A Single submitter
- c.331-308G>C Single submitter
- c.49+214G>T Single submitter
- c.49+219T>G Single submitter
- c.49+223G>C Single submitter
- c.49+228G>C Single submitter
- c.49+231_49+233del Single submitter
- c.49+231G>A Single submitter
- c.49+231G>T Single submitter
- c.49+232_49+233del Single submitter
- c.49+233del Single submitter
- c.49+248A>G Single submitter
- c.49+255_49+258del Single submitter
- c.50-69dup Single submitter
- c.50-86del Single submitter
- c.976+248A>G Single submitter
- c.976+91TC[2] Single submitter
- c.977-43C>T Single submitter
- c.977-5dup Single submitter
- c.977-6_977-5dup Single submitter
- c.977-7_977-5dup No assertion criteria CCDC50-related disorder
Benign/Likely benign 3
- p.Arg274Gln Multiple submitters
- p.Lys401= Multiple submitters
- p.Lys426Glu Multiple submitters ⚠
Likely benign 83
- c.113-4C>G Multiple submitters
- c.976+41A>C Multiple submitters
- c.-222C>T Multiple submitters
- p.Ala352= Multiple submitters
- p.Ala453= Multiple submitters
- p.Leu51= Multiple submitters
- p.Lys15= Multiple submitters
- p.Val336Ile Multiple submitters ⚠
- c.1092+12T>C Single submitter
- c.112+67C>T Single submitter
- c.113-36C>T Single submitter
- c.1137+11G>T Single submitter
- c.1137+17A>C Single submitter
- c.1242+10G>C Single submitter
- c.1242+42A>T Single submitter
- c.1243-16G>T Single submitter
- c.1322+18A>G Single submitter
- c.1322+19A>G Single submitter
- c.1323-51T>C Single submitter
- c.1429+13T>C Single submitter
- c.1429+273T>A Single submitter
- c.1430-11C>G Single submitter
- c.239+16G>A Single submitter
- c.239+301G>A Single submitter
- c.240-112_240-111del Single submitter
- c.240-17T>C Single submitter
- c.240-285A>G Single submitter
- c.240-4T>A Single submitter
- c.330+18C>T Single submitter
- c.331-270A>C Single submitter
- c.331-5del Single submitter
- c.448+267T>C Single submitter
- c.448+268G>A Single submitter
- c.448+5C>A Single submitter
- c.49+11C>G Single submitter
- c.49+19G>A Single submitter
- c.976+10G>C Single submitter
- c.976+18C>A Single submitter
- c.976+19G>A Single submitter
- c.976+19G>T Single submitter
- c.976+265C>T Single submitter
- c.977-10_977-9insG Single submitter
- c.977-19T>C Single submitter
- c.977-244G>A Single submitter
- c.977-5del Single submitter
- c.-63C>G Single submitter
- c.*7_*14del Single submitter
- p.Ala30= Single submitter
- p.Ala343Thr Single submitter
- p.Ala372= Single submitter
- p.Ala69= Single submitter
- p.Arg399= Single submitter
- p.Asn215Lys Single submitter
- p.Asn49= Single submitter
- p.Asp324= Single submitter
- p.Gln151= Single submitter
- p.Gln268= Single submitter
- p.Gln359= Single submitter
- p.Glu250Gly Single submitter
- p.Glu317= Single submitter
- p.Gly174= Single submitter
- p.His223Gln Single submitter
- p.Ile354= Single submitter
- p.Leu237= Single submitter
- p.Leu56= Single submitter
- p.Lys107= Single submitter
- p.Met447Val Single submitter
- p.Pro233Ala Single submitter
- p.Pro411= Single submitter
- p.Ser209= Single submitter
- p.Ser242= Single submitter
- p.Ser473= Single submitter
- p.Thr137Ala Single submitter
- p.Thr28= Single submitter
- p.Thr456= Single submitter
- p.Val14= Single submitter
- p.Val245= Single submitter
- p.Val290Ala Single submitter
- p.Val291= Single submitter
- p.Val46Ile Single submitter ⚠
- c.448+5C>G No assertion criteria CCDC50-related disorder
- p.Arg263Pro No assertion criteria CCDC50-related disorder
- p.Ile381= No assertion criteria CCDC50-related disorder
Uncertain significance 152
- p.Ala453Val Multiple submitters ⚠
- p.Arg138Pro Multiple submitters ⚠
- p.Arg227Gln Multiple submitters
- p.Arg227Trp Multiple submitters autosomal dominant nonsyndromic hearing loss 44
- p.Arg270Ter Multiple submitters
- p.Arg274Ter Multiple submitters
- p.Arg305Thr Multiple submitters
- p.Arg309Gly Multiple submitters
- p.Arg383Gln Multiple submitters ⚠
- p.Arg399Trp Multiple submitters ⚠
- p.Arg76Cys Multiple submitters ⚠
- p.Asn215Asp Multiple submitters
- p.Asp253Glu Multiple submitters
- p.Asp369Ala Multiple submitters ⚠
- p.Gln222His Multiple submitters
- p.Glu118Gly Multiple submitters ⚠
- p.Glu182Asp Multiple submitters
- p.Glu412Lys Multiple submitters CCDC50-related disorder ⚠
- p.Gly163Arg Multiple submitters
- p.His323Tyr Multiple submitters
- p.Lys267Arg Multiple submitters
- p.Lys328Met Multiple submitters ⚠
- p.Lys333Gln Multiple submitters ⚠
- p.Lys406Glu Multiple submitters ⚠
- p.Lys476Glu Multiple submitters ⚠
- p.Pro308Arg Multiple submitters
- p.Pro311Leu Multiple submitters
- p.Pro411Thr Multiple submitters ⚠
- p.Ser207Phe Multiple submitters
- p.Ser276Ter Multiple submitters
- p.Ser44Leu Multiple submitters ⚠
- p.Ser469Leu Multiple submitters ⚠
- p.Tyr480Cys Multiple submitters ⚠
- c.1093-4A>G Single submitter
- c.1093-5_1093-3del Single submitter
- c.1429+6_1429+7del Single submitter
- c.1430-9C>G Single submitter
- c.239+13G>A Single submitter
- c.49+6G>T Single submitter
- c.50-851T>G Single submitter autosomal dominant nonsyndromic hearing loss 44
- c.976+5T>C Single submitter
- c.977-2dup Single submitter
- c.-19A>G Single submitter
- p.Ala373Thr Single submitter ⚠
- p.Ala387Thr Single submitter ⚠
- p.Ala420Thr Single submitter ⚠
- p.Ala421Thr Single submitter ⚠
- p.Ala43Gly Single submitter ⚠
- p.Ala43Thr Single submitter ⚠
- p.Arg101Lys Single submitter ⚠
- p.Arg103Cys Single submitter ⚠
- p.Arg114Cys Single submitter ⚠
- p.Arg138Cys Single submitter ⚠
- p.Arg138His Single submitter ⚠
- p.Arg155Lys Single submitter
- p.Arg166Ile Single submitter
- p.Arg19Gln Single submitter ⚠
- p.Arg225Gly Single submitter
- p.Arg234Gln Single submitter
- p.Arg270Gln Single submitter
- p.Arg270Gly Single submitter
- p.Arg274Gly Single submitter
- p.Arg330Gly Single submitter ⚠
- p.Arg399Gln Single submitter ⚠
- p.Arg407Ser Single submitter ⚠
- p.Arg441Trp Single submitter ⚠
- p.Arg466Gln Single submitter ⚠
- p.Asn219Asp Single submitter
- p.Asn219fs Single submitter
- p.Asn220fs Single submitter
- p.Asn259Ile Single submitter
- p.Asn436Lys Single submitter ⚠
- p.Asn45Ser Single submitter ⚠
- p.Asn49Ser Single submitter ⚠
- p.Asp111Gly Single submitter ⚠
- p.Asp273Tyr Single submitter
- p.Asp324Glu Single submitter
- p.Asp351Asn Single submitter ⚠
- p.Asp369Tyr Single submitter autosomal dominant nonsyndromic hearing loss 44 ⚠
- p.Asp369Val Single submitter ⚠
- p.Asp410Glu Single submitter ⚠
- p.Asp429Asn Single submitter ⚠
- p.Asp84Ala Single submitter ⚠
- p.Cys251Trp Single submitter
- p.Cys251Tyr Single submitter
- p.Cys85Phe Single submitter ⚠
- p.Gln36Arg Single submitter nonsyndromic genetic hearing loss ⚠
- p.Gln57His Single submitter CCDC50-related disorder ⚠
- p.Gln92Pro Single submitter ⚠
- p.Glu124Asp Single submitter autosomal dominant nonsyndromic hearing loss 44 ⚠
- p.Glu133Gly Single submitter ⚠
- p.Glu185Lys Single submitter
- p.Glu189Gly Single submitter
- p.Glu192Gln Single submitter
- p.Glu221Lys Single submitter
- p.Glu250Gln Single submitter
- p.Glu255Asp Single submitter
- p.Glu348Gly Single submitter ⚠
- p.Glu353Gln Single submitter ⚠
- p.Glu35Lys Single submitter ⚠
- p.Glu427Asp Single submitter ⚠
- p.Glu427Gly Single submitter ⚠
- p.Glu427Lys Single submitter ⚠
- p.Glu65Gly Single submitter ⚠
- p.Gly153= Single submitter
- p.Gly174Arg Single submitter
- p.Gly210Val Single submitter
- p.Gly293Ala Single submitter
- p.Gly299Ser Single submitter
- p.His296Arg Single submitter
- p.His296Asn Single submitter
- p.Ile104Val Single submitter ⚠
- p.Ile112Val Single submitter ⚠
- p.Ile218Ser Single submitter
- p.Ile241Thr Single submitter
- p.Ile446Val Single submitter ⚠
- p.Leu320Phe Single submitter
- p.Leu320Pro Single submitter
- p.Leu363Phe Single submitter ⚠
- p.Leu363Val Single submitter ⚠
- p.Leu67Val Single submitter autosomal dominant nonsyndromic hearing loss 44 ⚠
- p.Leu73Pro Single submitter ⚠
- p.Lys107Glu Single submitter ⚠
- p.Lys128Glu Single submitter ⚠
- p.Lys303del Single submitter
- p.Lys397Arg Single submitter ⚠
- p.Lys424Thr Single submitter ⚠
- p.Lys435Gln Single submitter ⚠
- p.Met386Lys Single submitter ⚠
- p.Met386Thr Single submitter ⚠
- p.Met386Val Single submitter ⚠
- p.Pro132Ser Single submitter ⚠
- p.Pro233His Single submitter
- p.Pro233Leu Single submitter
- p.Pro339Ser Single submitter ⚠
- p.Pro431Ser Single submitter ⚠
- p.Pro431Thr Single submitter ⚠
- p.Ser143Arg Single submitter ⚠
- p.Ser154Leu Single submitter
- p.Ser205Leu Single submitter
- p.Ser208Gly Single submitter
- p.Ser248Asn Single submitter
- p.Ser279Pro Single submitter
- p.Ser316Arg Single submitter
- p.Thr240Ala Single submitter
- p.Thr240Met Single submitter
- p.Thr28Ile Single submitter ⚠
- p.Thr456Ser Single submitter ⚠
- p.Tyr140Phe Single submitter ⚠
- p.Tyr480Asp Single submitter ⚠
- p.Val177fs Single submitter
- p.Val46Ala Single submitter ⚠