DIAPH3 — 576 ClinVar variants
All ClinVar germline DIAPH3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 289 flagged for review →
1 Pathogenic · 20 Conflicting · 60 Benign · 7 Benign/Likely benign · 176 Likely benign · 312 Uncertain significance
Full DIAPH3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 289
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 11
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- DIAPH3 p.Ala1133Thr Conflicting Single submitter
- DIAPH3 p.Arg1118Cys Conflicting Single submitter
- DIAPH3 p.Arg603Gln Conflicting Single submitter
- DIAPH3 p.Asn283Ser Conflicting Single submitter
- DIAPH3 p.Gln1044Arg Conflicting Single submitter
- DIAPH3 p.Glu52Asp Conflicting Single submitter
- DIAPH3 p.Ile234Thr Conflicting Single submitter
- DIAPH3 p.Ile699Thr Conflicting Single submitter
- DIAPH3 p.Ile982Thr Conflicting Single submitter
- DIAPH3 p.Leu67Val Conflicting Single submitter
- DIAPH3 p.Met1095Val Conflicting Single submitter
Predictors lean, ClinVar uncertain 133
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DIAPH3 p.Ala500Val Uncertain significance Multiple submitters
- DIAPH3 p.Ala546Thr Uncertain significance Multiple submitters
- DIAPH3 p.Arg1089Pro Uncertain significance Multiple submitters
- DIAPH3 p.Arg31Gln Uncertain significance Multiple submitters
- DIAPH3 p.Arg367Cys Uncertain significance Multiple submitters
-
DIAPH3 p.Arg448Pro
Uncertain significance
Multiple submitters
auditory neuropathy
-
DIAPH3 p.Asn1122Ser
Uncertain significance
Multiple submitters
autosomal dominant auditory neuropathy 1
- DIAPH3 p.Asp1077Asn Uncertain significance Multiple submitters
- DIAPH3 p.Asp522Glu Uncertain significance Multiple submitters
- DIAPH3 p.Asp763Glu Uncertain significance Multiple submitters
-
DIAPH3 p.Glu119Asp
Uncertain significance
Multiple submitters
autosomal dominant auditory neuropathy 1
- DIAPH3 p.Gly1056Asp Uncertain significance Multiple submitters
- DIAPH3 p.Gly1147Arg Uncertain significance Multiple submitters
-
DIAPH3 p.Gly14Arg
Uncertain significance
Multiple submitters
DIAPH3-related disorder
- DIAPH3 p.Gly926Ala Uncertain significance Multiple submitters
- DIAPH3 p.His216Asn Uncertain significance Multiple submitters
- DIAPH3 p.Leu229Pro Uncertain significance Multiple submitters
-
DIAPH3 p.Lys707Asn
Uncertain significance
Multiple submitters
autosomal dominant auditory neuropathy 1
- DIAPH3 p.Lys909Arg Uncertain significance Multiple submitters
- DIAPH3 p.Met423Ile Uncertain significance Multiple submitters
- DIAPH3 p.Pro642Arg Uncertain significance Multiple submitters
- DIAPH3 p.Ser801Arg Uncertain significance Multiple submitters
- DIAPH3 p.Thr521Ala Uncertain significance Multiple submitters
- DIAPH3 p.Thr68Met Uncertain significance Multiple submitters
- DIAPH3 p.Val1028Ile Uncertain significance Multiple submitters
- DIAPH3 p.Ala105Thr Uncertain significance Single submitter
- DIAPH3 p.Ala1073Asp Uncertain significance Single submitter
- DIAPH3 p.Ala1133Pro Uncertain significance Single submitter
- DIAPH3 p.Ala294Val Uncertain significance Single submitter
- DIAPH3 p.Ala500Thr Uncertain significance Single submitter
- DIAPH3 p.Ala553Thr Uncertain significance Single submitter
- DIAPH3 p.Ala574Thr Uncertain significance Single submitter
- DIAPH3 p.Ala876Val Uncertain significance Single submitter
- DIAPH3 p.Arg1037Gln Uncertain significance Single submitter
- DIAPH3 p.Arg1042Ser Uncertain significance Single submitter
- DIAPH3 p.Arg1048His Uncertain significance Single submitter
- DIAPH3 p.Arg1129Lys Uncertain significance Single submitter
- DIAPH3 p.Arg1164Ser Uncertain significance Single submitter
- DIAPH3 p.Arg1189Gly Uncertain significance Single submitter
- DIAPH3 p.Arg1191Gln Uncertain significance Single submitter
- DIAPH3 p.Arg331Gln Uncertain significance Single submitter
- DIAPH3 p.Arg37Pro Uncertain significance Single submitter
- DIAPH3 p.Arg432Ile Uncertain significance Single submitter
- DIAPH3 p.Arg7Gln Uncertain significance Single submitter
- DIAPH3 p.Arg7Pro Uncertain significance Single submitter
- DIAPH3 p.Asn1124Ile Uncertain significance Single submitter
- DIAPH3 p.Asn1124Ser Uncertain significance Single submitter
- DIAPH3 p.Asn1139Ser Uncertain significance Single submitter
- DIAPH3 p.Asn1159Thr Uncertain significance Single submitter
- DIAPH3 p.Asn136Ser Uncertain significance Single submitter
- DIAPH3 p.Asn206Ser Uncertain significance Single submitter
- DIAPH3 p.Asn675Asp Uncertain significance Single submitter
- DIAPH3 p.Asp1063Asn Uncertain significance Single submitter
- DIAPH3 p.Asp189Gly Uncertain significance Single submitter
- DIAPH3 p.Asp353Glu Uncertain significance Single submitter
- DIAPH3 p.Asp356His Uncertain significance Single submitter
-
DIAPH3 p.Asp462Val
Uncertain significance
Single submitter
autosomal dominant auditory neuropathy 1
-
DIAPH3 p.Asp476Tyr
Uncertain significance
Single submitter
auditory neuropathy
- DIAPH3 p.Asp698Glu Uncertain significance Single submitter
- DIAPH3 p.Asp877Tyr Uncertain significance Single submitter
- DIAPH3 p.Asp908Glu Uncertain significance Single submitter
- DIAPH3 p.Cys1158Arg Uncertain significance Single submitter
- DIAPH3 p.Gln1044Glu Uncertain significance Single submitter
-
DIAPH3 p.Gln173Glu
Uncertain significance
Single submitter
hearing loss disorder
- DIAPH3 p.Glu1020Lys Uncertain significance Single submitter
- DIAPH3 p.Glu397Asp Uncertain significance Single submitter
- DIAPH3 p.Glu416Asp Uncertain significance Single submitter
- DIAPH3 p.Glu972Lys Uncertain significance Single submitter
- DIAPH3 p.Gly1056Ala Uncertain significance Single submitter
- DIAPH3 p.Gly315Asp Uncertain significance Single submitter
- DIAPH3 p.Gly384Val Uncertain significance Single submitter
- DIAPH3 p.Gly571Ser Uncertain significance Single submitter
- DIAPH3 p.Gly621Arg Uncertain significance Single submitter
- DIAPH3 p.His1120Pro Uncertain significance Single submitter
- DIAPH3 p.His1143Arg Uncertain significance Single submitter
- DIAPH3 p.His1143Asn Uncertain significance Single submitter
- DIAPH3 p.His216Tyr Uncertain significance Single submitter
- DIAPH3 p.Ile453Val Uncertain significance Single submitter
- DIAPH3 p.Ile468Val Uncertain significance Single submitter
- DIAPH3 p.Ile497Val Uncertain significance Single submitter
- DIAPH3 p.Ile699Met Uncertain significance Single submitter
- DIAPH3 p.Ile709Thr Uncertain significance Single submitter
- DIAPH3 p.Ile754Phe Uncertain significance Single submitter
- DIAPH3 p.Ile897Val Uncertain significance Single submitter
- DIAPH3 p.Leu1040Pro Uncertain significance Single submitter
- DIAPH3 p.Leu619Pro Uncertain significance Single submitter
- DIAPH3 p.Leu796Pro Uncertain significance Single submitter
- DIAPH3 p.Lys1017Arg Uncertain significance Single submitter
- DIAPH3 p.Lys832Arg Uncertain significance Single submitter
- DIAPH3 p.Lys832Thr Uncertain significance Single submitter
- DIAPH3 p.Met264Ile Uncertain significance Single submitter
- DIAPH3 p.Met35Ile Uncertain significance Single submitter
- DIAPH3 p.Met423Leu Uncertain significance Single submitter
- DIAPH3 p.Met475Ile Uncertain significance Single submitter
-
DIAPH3 p.Met953Leu
Uncertain significance
Single submitter
hearing loss disorder
- DIAPH3 p.Phe365Leu Uncertain significance Single submitter
- DIAPH3 p.Phe505Ser Uncertain significance Single submitter
- DIAPH3 p.Pro1083Leu Uncertain significance Single submitter
- DIAPH3 p.Pro11Ser Uncertain significance Single submitter
- DIAPH3 p.Pro142Arg Uncertain significance Single submitter
- DIAPH3 p.Pro41Ala Uncertain significance Single submitter
- DIAPH3 p.Pro44Arg Uncertain significance Single submitter
- DIAPH3 p.Pro941Ala Uncertain significance Single submitter
- DIAPH3 p.Ser1117Ala Uncertain significance Single submitter
-
DIAPH3 p.Ser209Ile
Uncertain significance
Single submitter
autosomal dominant auditory neuropathy 1
- DIAPH3 p.Ser24Leu Uncertain significance Single submitter
- DIAPH3 p.Ser265Arg Uncertain significance Single submitter
- DIAPH3 p.Ser48Arg Uncertain significance Single submitter
- DIAPH3 p.Ser624Phe Uncertain significance Single submitter
- DIAPH3 p.Ser704Leu Uncertain significance Single submitter
- DIAPH3 p.Ser728Arg Uncertain significance Single submitter
- DIAPH3 p.Ser728Ile Uncertain significance Single submitter
- DIAPH3 p.Ser77Asn Uncertain significance Single submitter
- DIAPH3 p.Thr1114Ala Uncertain significance Single submitter
- DIAPH3 p.Thr1130Ser Uncertain significance Single submitter
- DIAPH3 p.Thr1168Ala Uncertain significance Single submitter
- DIAPH3 p.Thr685Ile Uncertain significance Single submitter
- DIAPH3 p.Thr825Ile Uncertain significance Single submitter
- DIAPH3 p.Thr873Lys Uncertain significance Single submitter
- DIAPH3 p.Thr873Ser Uncertain significance Single submitter
- DIAPH3 p.Thr966Ala Uncertain significance Single submitter
- DIAPH3 p.Tyr457His Uncertain significance Single submitter
- DIAPH3 p.Tyr513His Uncertain significance Single submitter
- DIAPH3 p.Val1028Phe Uncertain significance Single submitter
- DIAPH3 p.Val239Ala Uncertain significance Single submitter
- DIAPH3 p.Val307Ile Uncertain significance Single submitter
- DIAPH3 p.Val787Leu Uncertain significance Single submitter
- DIAPH3 p.Val788Ile Uncertain significance Single submitter
- DIAPH3 p.Val823Ile Uncertain significance Single submitter
- DIAPH3 p.Val915Ala Uncertain significance Single submitter
-
DIAPH3 p.Asn623Ser
Uncertain significance
No assertion criteria
DIAPH3-related disorder
-
DIAPH3 p.Glu1167Lys
Uncertain significance
No assertion criteria
DIAPH3-related disorder
-
DIAPH3 p.Val1180Phe
Uncertain significance
No assertion criteria
DIAPH3-related disorder
Predictors split 145
The independent predictors disagree with each other — read with care.
- DIAPH3 p.Arg1027His Uncertain significance Multiple submitters
-
DIAPH3 p.Arg1048Cys
Uncertain significance
Multiple submitters
autosomal dominant auditory neuropathy 1
- DIAPH3 p.Arg1048Gly Uncertain significance Multiple submitters
- DIAPH3 p.Arg1076His Benign/Likely benign Multiple submitters
- DIAPH3 p.Arg406His Uncertain significance Multiple submitters
-
DIAPH3 p.Arg448Gln
Uncertain significance
Multiple submitters
autosomal dominant auditory neuropathy 1
- DIAPH3 p.Arg603Trp Uncertain significance Multiple submitters
- DIAPH3 p.Asn363Ser Benign Multiple submitters
- DIAPH3 p.Asp278Glu Uncertain significance Multiple submitters
- DIAPH3 p.Asp386Gly Uncertain significance Multiple submitters
- DIAPH3 p.Gln1010Lys Uncertain significance Multiple submitters
- DIAPH3 p.Gln524Arg Benign Multiple submitters
- DIAPH3 p.Glu1041Lys Uncertain significance Multiple submitters
- DIAPH3 p.Glu402Ala Uncertain significance Multiple submitters
- DIAPH3 p.Glu935Lys Uncertain significance Multiple submitters
- DIAPH3 p.His760Leu Uncertain significance Multiple submitters
- DIAPH3 p.Leu470Phe Uncertain significance Multiple submitters
- DIAPH3 p.Met130Val Uncertain significance Multiple submitters
- DIAPH3 p.Phe773Leu Benign/Likely benign Multiple submitters
- DIAPH3 p.Pro45Thr Uncertain significance Multiple submitters
- DIAPH3 p.Pro561Arg Uncertain significance Multiple submitters
- DIAPH3 p.Pro578Leu Benign Multiple submitters
- DIAPH3 p.Pro588Leu Benign Multiple submitters
- DIAPH3 p.Pro596Leu Benign Multiple submitters
- DIAPH3 p.Pro614Ser Uncertain significance Multiple submitters
- DIAPH3 p.Ser404Thr Uncertain significance Multiple submitters
- DIAPH3 p.Tyr964His Uncertain significance Multiple submitters
- DIAPH3 p.Val277Met Uncertain significance Multiple submitters
- DIAPH3 p.Ala1011Val Uncertain significance Single submitter
- DIAPH3 p.Ala1035Thr Uncertain significance Single submitter
- DIAPH3 p.Ala276Ser Uncertain significance Single submitter
- DIAPH3 p.Ala314Thr Uncertain significance Single submitter
- DIAPH3 p.Ala340Val Uncertain significance Single submitter
- DIAPH3 p.Ala433Thr Uncertain significance Single submitter
- DIAPH3 p.Ala528Gly Uncertain significance Single submitter
- DIAPH3 p.Arg1042Cys Conflicting Single submitter
- DIAPH3 p.Arg1042His Conflicting Single submitter
- DIAPH3 p.Arg1076Cys Conflicting Single submitter
- DIAPH3 p.Arg1089Gln Uncertain significance Single submitter
- DIAPH3 p.Arg1089Trp Uncertain significance Single submitter
- DIAPH3 p.Arg144Gln Uncertain significance Single submitter
- DIAPH3 p.Arg200Gln Uncertain significance Single submitter
- DIAPH3 p.Arg262Ile Uncertain significance Single submitter
- DIAPH3 p.Arg367His Uncertain significance Single submitter
- DIAPH3 p.Arg37Cys Uncertain significance Single submitter
- DIAPH3 p.Arg406Cys Uncertain significance Single submitter
- DIAPH3 p.Arg472Lys Uncertain significance Single submitter
- DIAPH3 p.Arg482Gln Uncertain significance Single submitter
- DIAPH3 p.Arg57His Uncertain significance Single submitter
- DIAPH3 p.Arg57Leu Uncertain significance Single submitter
- DIAPH3 p.Arg797Trp Conflicting Single submitter
- DIAPH3 p.Arg855Trp Uncertain significance Single submitter
- DIAPH3 p.Arg927Ser Uncertain significance Single submitter
- DIAPH3 p.Asn662Ser Uncertain significance Single submitter
- DIAPH3 p.Asn756Thr Uncertain significance Single submitter
-
DIAPH3 p.Asn856Ser
Uncertain significance
Single submitter
autosomal dominant auditory neuropathy 1
- DIAPH3 p.Asp147His Uncertain significance Single submitter
- DIAPH3 p.Asp383Asn Uncertain significance Single submitter
- DIAPH3 p.Asp473Asn Uncertain significance Single submitter
- DIAPH3 p.Asp486Tyr Uncertain significance Single submitter
- DIAPH3 p.Asp488Gly Uncertain significance Single submitter
- DIAPH3 p.Asp677His Uncertain significance Single submitter
- DIAPH3 p.Asp763Asn Uncertain significance Single submitter
- DIAPH3 p.Cys195Ser Uncertain significance Single submitter
- DIAPH3 p.Cys341Ser Uncertain significance Single submitter
- DIAPH3 p.Cys827Phe Uncertain significance Single submitter
- DIAPH3 p.Gln336Lys Uncertain significance Single submitter
- DIAPH3 p.Gln456Glu Uncertain significance Single submitter
- DIAPH3 p.Gln524Glu Uncertain significance Single submitter
- DIAPH3 p.Glu1023Gly Uncertain significance Single submitter
- DIAPH3 p.Glu1041Gly Uncertain significance Single submitter
- DIAPH3 p.Glu1182Lys Uncertain significance Single submitter
- DIAPH3 p.Glu182Gly Uncertain significance Single submitter
- DIAPH3 p.Glu190Gly Uncertain significance Single submitter
- DIAPH3 p.Glu408Ala Uncertain significance Single submitter
- DIAPH3 p.Glu543Asp Uncertain significance Single submitter
- DIAPH3 p.Glu811Asp Uncertain significance Single submitter
- DIAPH3 p.Glu828Lys Uncertain significance Single submitter
- DIAPH3 p.His332Arg Uncertain significance Single submitter
- DIAPH3 p.His395Gln Uncertain significance Single submitter
- DIAPH3 p.His405Arg Uncertain significance Single submitter
- DIAPH3 p.His471Tyr Uncertain significance Single submitter
- DIAPH3 p.His523Leu Uncertain significance Single submitter
- DIAPH3 p.His657Tyr Uncertain significance Single submitter
- DIAPH3 p.His946Tyr Uncertain significance Single submitter
- DIAPH3 p.Ile230Ser Uncertain significance Single submitter
- DIAPH3 p.Ile440Val Uncertain significance Single submitter
- DIAPH3 p.Ile629Phe Uncertain significance Single submitter
- DIAPH3 p.Ile889Met Uncertain significance Single submitter
- DIAPH3 p.Ile958Phe Uncertain significance Single submitter
- DIAPH3 p.Leu1193Phe Uncertain significance Single submitter
- DIAPH3 p.Leu135Phe Uncertain significance Single submitter
- DIAPH3 p.Leu229Val Uncertain significance Single submitter
- DIAPH3 p.Leu385Val Uncertain significance Single submitter
- DIAPH3 p.Leu540Arg Uncertain significance Single submitter
- DIAPH3 p.Leu62Val Uncertain significance Single submitter
- DIAPH3 p.Leu749Met Uncertain significance Single submitter
- DIAPH3 p.Leu757Phe Uncertain significance Single submitter
- DIAPH3 p.Leu807Phe Uncertain significance Single submitter
- DIAPH3 p.Leu936Val Uncertain significance Single submitter
- DIAPH3 p.Lys1017Glu Uncertain significance Single submitter
-
DIAPH3 p.Lys241Glu
Uncertain significance
Single submitter
autosomal dominant auditory neuropathy 1
- DIAPH3 p.Lys319Glu Uncertain significance Single submitter
- DIAPH3 p.Lys515Asn Uncertain significance Single submitter
- DIAPH3 p.Lys702Asn Uncertain significance Single submitter
- DIAPH3 p.Lys893Arg Uncertain significance Single submitter
- DIAPH3 p.Lys920Glu Uncertain significance Single submitter
- DIAPH3 p.Met753Val Uncertain significance Single submitter
-
DIAPH3 p.Met790Ile
Uncertain significance
Single submitter
auditory neuropathy
- DIAPH3 p.Met974Val Uncertain significance Single submitter
- DIAPH3 p.Pro375Leu Uncertain significance Single submitter
- DIAPH3 p.Pro564His Uncertain significance Single submitter
- DIAPH3 p.Pro582Thr Uncertain significance Single submitter
- DIAPH3 p.Pro589Ser Uncertain significance Single submitter
- DIAPH3 p.Pro593Ala Uncertain significance Single submitter
- DIAPH3 p.Pro594Arg Uncertain significance Single submitter
- DIAPH3 p.Pro594Gln Uncertain significance Single submitter
- DIAPH3 p.Pro594Thr Uncertain significance Single submitter
- DIAPH3 p.Pro609Ser Uncertain significance Single submitter
- DIAPH3 p.Pro611Arg Uncertain significance Single submitter
-
DIAPH3 p.Pro614Thr
Conflicting
Single submitter
autosomal dominant auditory neuropathy 1
- DIAPH3 p.Pro636Ser Uncertain significance Single submitter
- DIAPH3 p.Pro818Ser Uncertain significance Single submitter
- DIAPH3 p.Pro940Ser Uncertain significance Single submitter
- DIAPH3 p.Pro942Ser Uncertain significance Single submitter
- DIAPH3 p.Ser149Arg Uncertain significance Single submitter
- DIAPH3 p.Ser149Gly Uncertain significance Single submitter
- DIAPH3 p.Ser171Arg Uncertain significance Single submitter
- DIAPH3 p.Ser293Thr Uncertain significance Single submitter
- DIAPH3 p.Ser565Cys Uncertain significance Single submitter
- DIAPH3 p.Ser775Thr Uncertain significance Single submitter
- DIAPH3 p.Ser954Phe Uncertain significance Single submitter
- DIAPH3 p.Ser959Gly Uncertain significance Single submitter
- DIAPH3 p.Ser968Pro Uncertain significance Single submitter
- DIAPH3 p.Thr204Ala Uncertain significance Single submitter
-
DIAPH3 p.Thr431Ala
Conflicting
Single submitter
hearing loss disorder
- DIAPH3 p.Thr747Ile Uncertain significance Single submitter
- DIAPH3 p.Thr880Ala Uncertain significance Single submitter
- DIAPH3 p.Thr917Arg Uncertain significance Single submitter
- DIAPH3 p.Thr917Met Conflicting Single submitter
- DIAPH3 p.Thr938Ile Uncertain significance Single submitter
- DIAPH3 p.Tyr734Ser Uncertain significance Single submitter
- DIAPH3 p.Tyr964Cys Uncertain significance Single submitter
- DIAPH3 p.Val307Ala Uncertain significance Single submitter
-
DIAPH3 p.Lys806Glu
Uncertain significance
No assertion criteria
DIAPH3-related disorder
All DIAPH3 variants
Pathogenic 1
- p.Cys687fs No assertion criteria autosomal dominant auditory neuropathy 1
Conflicting classifications of pathogenicity 20
- c.626+14T>C Single submitter autosomal dominant auditory neuropathy 1
- p.Ala1133Thr Single submitter ⚠
- p.Arg1042Cys Single submitter ⚠
- p.Arg1042His Single submitter ⚠
- p.Arg1076Cys Single submitter ⚠
- p.Arg1118Cys Single submitter ⚠
- p.Arg28Gln Single submitter
- p.Arg603Gln Single submitter ⚠
- p.Arg797Trp Single submitter ⚠
- p.Asn283Ser Single submitter ⚠
- p.Gln1044Arg Single submitter ⚠
- p.Glu52Asp Single submitter ⚠
- p.Ile234Thr Single submitter ⚠
- p.Ile699Thr Single submitter ⚠
- p.Ile982Thr Single submitter ⚠
- p.Leu67Val Single submitter ⚠
- p.Met1095Val Single submitter ⚠
- p.Pro614Thr Single submitter autosomal dominant auditory neuropathy 1 ⚠
- p.Thr431Ala Single submitter hearing loss disorder ⚠
- p.Thr917Met Single submitter ⚠
Benign 60
- c.1014+27G>C Multiple submitters autosomal dominant auditory neuropathy 1
- c.1014+54A>C Multiple submitters
- c.1244+131T>C Multiple submitters
- c.2367+159C>T Multiple submitters
- c.2737+15A>G Multiple submitters
- c.3027+187C>T Multiple submitters
- c.3028-4_3028-3insGTAA Multiple submitters autosomal dominant auditory neuropathy 1
- c.3164-217G>A Multiple submitters
- c.496-106T>C Multiple submitters
- c.627-20G>A Multiple submitters autosomal dominant auditory neuropathy 1
- c.627-28G>A Multiple submitters
- c.*147T>A Multiple submitters
- c.*16A>T Multiple submitters
- p.Ala1157= Multiple submitters
- p.Arg855= Multiple submitters
- p.Asn363Ser Multiple submitters ⚠
- p.Asp399= Multiple submitters
- p.Gln524Arg Multiple submitters ⚠
- p.Gln541= Multiple submitters
- p.Leu1113= Multiple submitters
- p.Lys237Asn Multiple submitters
- p.Pro578Leu Multiple submitters ⚠
- p.Pro588Leu Multiple submitters ⚠
- p.Pro596Leu Multiple submitters ⚠
- p.Thr825= Multiple submitters
- c.1015-238C>T Single submitter
- c.1015-264del Single submitter
- c.1015-265_1015-264del Single submitter
- c.1015-280dup Single submitter
- c.1245-213A>G Single submitter
- c.1361+162G>A Single submitter
- c.1650+255T>A Single submitter
- c.1650+323A>G Single submitter
- c.181-10dup Single submitter
- c.181-193T>C Single submitter
- c.1960-300A>G Single submitter
- c.1960-309G>A Single submitter
- c.214-156T>G Single submitter
- c.2170+278del Single submitter
- c.2368-236A>G Single submitter
- c.2737+7G>A Single submitter
- c.3027+14dup Single submitter
- c.3027+71G>A Single submitter
- c.3028-10del Single submitter
- c.3028-193G>A Single submitter
- c.3260-6del Single submitter
- c.3260-6dup Single submitter
- c.3319+177_3319+179del Single submitter
- c.3319+314G>A Single submitter
- c.3320-16T>C Single submitter
- c.390+127C>G Single submitter
- c.496-152T>G Single submitter
- c.627-271C>G Single submitter
- c.627-298T>G Single submitter
- c.-100_-97del Single submitter
- c.*225_*226dup Single submitter
- c.*226dup Single submitter
- p.Ala1157Val Single submitter
- p.Gly49Asp Single submitter
- p.Ser704= Single submitter
Benign/Likely benign 7
- c.1651-7T>C Multiple submitters
- c.214-8C>G Multiple submitters
- p.Arg1076His Multiple submitters ⚠
- p.Arg28= Multiple submitters
- p.Phe773Leu Multiple submitters ⚠
- p.Ser607Gly Multiple submitters
- p.Ser717Pro Multiple submitters autosomal dominant auditory neuropathy 1
Likely benign 176
- c.1546-12A>C Multiple submitters
- c.3260-12T>A Multiple submitters
- c.3260-76G>C Multiple submitters
- c.3319+56A>G Multiple submitters
- c.771+62G>A Multiple submitters
- p.Gln456= Multiple submitters
- p.Gln785Arg Multiple submitters
- p.Glu463= Multiple submitters
- p.Glu52= Multiple submitters
- p.Gly315= Multiple submitters
- p.Lys59= Multiple submitters
- p.Pro588= Multiple submitters
- p.Pro596= Multiple submitters
- p.Pro91= Multiple submitters
- p.Ser724= Multiple submitters
- p.Ser83= Multiple submitters
- p.Val913= Multiple submitters
- c.1014+129ATTT[6] Single submitter
- c.1014+153C>T Single submitter
- c.1014+44A>G Single submitter
- c.1015-263C>T Single submitter
- c.1015-4G>T Single submitter
- c.1125+14A>G Single submitter
- c.1125+8C>T Single submitter
- c.1244+11G>A Single submitter
- c.1244+87T>G Single submitter
- c.1245-153C>T Single submitter
- c.1245-341A>G Single submitter
- c.1245-5C>T Single submitter
- c.1245-8C>G Single submitter
- c.1362-13_1362-9del Single submitter
- c.1362-161G>A Single submitter
- c.1362-7G>C Single submitter
- c.1362-7G>T Single submitter
- c.1480+148G>A Single submitter
- c.1480+9T>G Single submitter
- c.1481-43T>G Single submitter
- c.1546-148A>T Single submitter
- c.1546-313A>G Single submitter
- c.1650+50G>A Single submitter
- c.1651-15dup Single submitter
- c.1651-17_1651-15del Single submitter
- c.180+10G>T Single submitter
- c.180+20A>T Single submitter
- c.180+222G>A Single submitter
- c.180+9C>A Single submitter
- c.181-10T>A Single submitter
- c.181-15T>G Single submitter
- c.181-257A>G Single submitter
- c.1959+161dup Single submitter
- c.1959+68A>G Single submitter
- c.1959+7G>A Single submitter
- c.1960-7_1960-4del Single submitter
- c.2074+10A>T Single submitter
- c.2075-15A>G Single submitter
- c.2075-26A>G Single submitter
- c.213+17C>G Single submitter
- c.2170+251del Single submitter
- c.2171-16T>C Single submitter
- c.2265+22A>T Single submitter
- c.2266-231G>T Single submitter
- c.2266-268T>A Single submitter
- c.2266-319G>A Single submitter
- c.2367+10G>A Single submitter
- c.2367+242T>G Single submitter
- c.2608-198G>A Single submitter
- c.2608-19T>C Single submitter
- c.2608-27_2608-26del Single submitter
- c.2608-4T>C Single submitter
- c.2608-6A>G Single submitter
- c.2862+203T>C Single submitter
- c.2862+251G>A Single submitter
- c.2863-283A>C Single submitter
- c.3027+11A>G Single submitter
- c.3027+15T>C Single submitter
- c.3028-10A>T Single submitter
- c.3028-15T>C Single submitter
- c.3164-12C>T Single submitter
- c.3164-16G>T Single submitter
- c.3164-18C>G Single submitter
- c.3260-17A>T Single submitter
- c.3319+11G>A Single submitter
- c.3319+43T>C Single submitter
- c.390+10T>G Single submitter
- c.495+16A>G Single submitter
- c.495+33C>T Single submitter
- c.496-18T>C Single submitter
- c.626+181_626+195dup Single submitter
- c.627-268G>A Single submitter
- c.627-4T>C Single submitter
- c.702-12A>G Single submitter
- c.702-19A>G Single submitter
- c.702-20T>C Single submitter
- c.771+12C>T Single submitter
- c.771+288T>C Single submitter
- c.771+8C>T Single submitter
- c.772-4A>G Single submitter
- c.908+16A>G Single submitter
- c.908+292G>T Single submitter
- c.909-288A>G Single submitter
- c.909-320G>T Single submitter
- c.909-90G>T Single submitter
- c.-69C>A Single submitter
- c.*224_*226dup Single submitter
- c.*23A>T Single submitter
- p.Ala720= Single submitter
- p.Arg1027= Single submitter
- p.Arg1129= Single submitter
- p.Arg28His Single submitter
- p.Arg3= Single submitter
- p.Arg31= Single submitter
- p.Arg322= Single submitter
- p.Arg362= Single submitter
- p.Arg748Gln Single submitter
- p.Asn1159= Single submitter
- p.Asn363= Single submitter
- p.Asn675= Single submitter
- p.Asn863= Single submitter
- p.Asp354= Single submitter
- p.Asp478= Single submitter
- p.Gln177= Single submitter
- p.Glu1178= Single submitter
- p.Glu137= Single submitter
- p.Glu434= Single submitter
- p.Glu519= Single submitter
- p.Glu534= Single submitter
- p.Glu683= Single submitter
- p.Gly1172= Single submitter
- p.Gly586= Single submitter
- p.Gly853= Single submitter
- p.Gly983= Single submitter
- p.Ile230= Single submitter
- p.Ile387= Single submitter
- p.Ile629= Single submitter
- p.Ile816= Single submitter
- p.Leu1049= Single submitter
- p.Leu1050= Single submitter
- p.Leu1193= Single submitter
- p.Leu229= Single submitter
- p.Leu370= Single submitter
- p.Leu487= Single submitter
- p.Leu502= Single submitter
- p.Leu882= Single submitter
- p.Leu918= Single submitter
- p.Lys759= Single submitter
- p.Lys893= Single submitter
- p.Met925Leu Single submitter
- p.Phe860= Single submitter
- p.Phe900= Single submitter
- p.Pro11= Single submitter
- p.Pro352= Single submitter
- p.Pro578= Single submitter
- p.Pro580= Single submitter
- p.Pro582= Single submitter
- p.Pro591= Single submitter
- p.Pro592= Single submitter
- p.Pro597= Single submitter
- p.Pro600= Single submitter
- p.Pro628= Single submitter
- p.Pro733= Single submitter
- p.Ser103= Single submitter
- p.Ser1145= Single submitter
- p.Ser271= Single submitter
- p.Ser717= Single submitter
- p.Ser875= Single submitter
- p.Thr1168= Single submitter
- p.Thr256= Single submitter
- p.Thr480Arg Single submitter autosomal dominant auditory neuropathy 1
- p.Thr490= Single submitter
- p.Thr521= Single submitter
- p.Thr68= Single submitter
- p.Thr881= Single submitter
- p.Tyr984= Single submitter
- p.Val676= Single submitter
- p.Val992= Single submitter
- p.Lys146= No assertion criteria DIAPH3-related disorder
Uncertain significance 312
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala500Val Multiple submitters ⚠
- p.Ala546Thr Multiple submitters ⚠
- p.Arg1019fs Multiple submitters autosomal dominant auditory neuropathy 1
- p.Arg1027His Multiple submitters ⚠
- p.Arg1048Cys Multiple submitters autosomal dominant auditory neuropathy 1 ⚠
- p.Arg1048Gly Multiple submitters ⚠
- p.Arg1089Pro Multiple submitters ⚠
- p.Arg1191Ter Multiple submitters
- p.Arg31Gln Multiple submitters ⚠
- p.Arg367Cys Multiple submitters ⚠
- p.Arg406His Multiple submitters ⚠
- p.Arg448Gln Multiple submitters autosomal dominant auditory neuropathy 1 ⚠
- p.Arg448Pro Multiple submitters auditory neuropathy ⚠
- p.Arg603Trp Multiple submitters ⚠
- p.Asn1122Ser Multiple submitters autosomal dominant auditory neuropathy 1 ⚠
- p.Asp1077Asn Multiple submitters ⚠
- p.Asp278Glu Multiple submitters ⚠
- p.Asp386Gly Multiple submitters ⚠
- p.Asp522Glu Multiple submitters ⚠
- p.Asp763Glu Multiple submitters ⚠
- p.Gln1010Lys Multiple submitters ⚠
- p.Glu1041Lys Multiple submitters ⚠
- p.Glu1182fs Multiple submitters
- p.Glu119Asp Multiple submitters autosomal dominant auditory neuropathy 1 ⚠
- p.Glu402Ala Multiple submitters ⚠
- p.Glu935Lys Multiple submitters ⚠
- p.Gly1056Asp Multiple submitters ⚠
- p.Gly1147Arg Multiple submitters ⚠
- p.Gly14Arg Multiple submitters DIAPH3-related disorder ⚠
- p.Gly926Ala Multiple submitters ⚠
- p.His216Asn Multiple submitters ⚠
- p.His760Leu Multiple submitters ⚠
- p.Leu229Pro Multiple submitters ⚠
- p.Leu470Phe Multiple submitters ⚠
- p.Lys707Asn Multiple submitters autosomal dominant auditory neuropathy 1 ⚠
- p.Lys74fs Multiple submitters
- p.Lys909Arg Multiple submitters ⚠
- p.Met130Val Multiple submitters ⚠
- p.Met423Ile Multiple submitters ⚠
- p.Pro45Thr Multiple submitters ⚠
- p.Pro561Arg Multiple submitters ⚠
- p.Pro614Ser Multiple submitters ⚠
- p.Pro642Arg Multiple submitters ⚠
- p.Ser404Thr Multiple submitters ⚠
- p.Ser801Arg Multiple submitters ⚠
- p.Thr521Ala Multiple submitters ⚠
- p.Thr68Met Multiple submitters ⚠
- p.Tyr849fs Multiple submitters
- p.Tyr964His Multiple submitters ⚠
- p.Val1028Ile Multiple submitters ⚠
- p.Val277Met Multiple submitters ⚠
- c.1014+5G>A Single submitter
- c.1361+16_1361+31del Single submitter
- c.1361+2T>C Single submitter autosomal dominant auditory neuropathy 1
- c.1362-19C>G Single submitter
- c.1480+1G>T Single submitter
- c.1481-7A>G Single submitter
- c.1959+5A>C Single submitter
- c.2074+5G>C Single submitter
- c.2265+1G>T Single submitter
- c.2266-2A>G Single submitter hearing loss disorder
- c.2608-3T>C Single submitter
- c.2737+94C>T Single submitter
- c.2863-3T>C Single submitter hearing loss disorder
- c.3027+1G>T Single submitter
- c.3027+4T>C Single submitter
- c.3028-3T>G Single submitter
- c.3163+1G>A Single submitter
- c.3260-1G>A Single submitter
- c.3319+15T>G Single submitter
- c.3320-3T>C Single submitter
- c.771+1G>A Single submitter
- p.Ala1011Val Single submitter ⚠
- p.Ala1035Thr Single submitter ⚠
- p.Ala105Thr Single submitter ⚠
- p.Ala1073Asp Single submitter ⚠
- p.Ala1133Pro Single submitter ⚠
- p.Ala276Ser Single submitter ⚠
- p.Ala294Val Single submitter ⚠
- p.Ala310fs Single submitter
- p.Ala314Thr Single submitter ⚠
- p.Ala340Val Single submitter ⚠
- p.Ala433Thr Single submitter ⚠
- p.Ala500Thr Single submitter ⚠
- p.Ala528Gly Single submitter ⚠
- p.Ala553Thr Single submitter ⚠
- p.Ala574Thr Single submitter ⚠
- p.Ala857_Gln858insArgSerArgAsnAla Single submitter
- p.Ala876Val Single submitter ⚠
- p.Arg1037Gln Single submitter ⚠
- p.Arg1042Ser Single submitter ⚠
- p.Arg1048His Single submitter ⚠
- p.Arg1089Gln Single submitter ⚠
- p.Arg1089Trp Single submitter ⚠
- p.Arg1129Lys Single submitter ⚠
- p.Arg1164Ser Single submitter ⚠
- p.Arg1189Gly Single submitter ⚠
- p.Arg1191Gln Single submitter ⚠
- p.Arg144Gln Single submitter ⚠
- p.Arg172Ter Single submitter
- p.Arg200Gln Single submitter ⚠
- p.Arg200Ter Single submitter autosomal dominant auditory neuropathy 1
- p.Arg262Ile Single submitter ⚠
- p.Arg331Gln Single submitter ⚠
- p.Arg367His Single submitter ⚠
- p.Arg37Cys Single submitter ⚠
- p.Arg37Pro Single submitter ⚠
- p.Arg406Cys Single submitter ⚠
- p.Arg432Ile Single submitter ⚠
- p.Arg448Ter Single submitter autosomal dominant auditory neuropathy 1
- p.Arg472Lys Single submitter ⚠
- p.Arg482Gln Single submitter ⚠
- p.Arg57His Single submitter ⚠
- p.Arg57Leu Single submitter ⚠
- p.Arg748del Single submitter
- p.Arg7Gln Single submitter ⚠
- p.Arg7Pro Single submitter ⚠
- p.Arg855Trp Single submitter ⚠
- p.Arg927Ser Single submitter ⚠
- p.Asn112_Phe113insLeuProLeuGluMetMetGluAsn Single submitter
- p.Asn1124Ile Single submitter ⚠
- p.Asn1124Ser Single submitter ⚠
- p.Asn1139Ser Single submitter ⚠
- p.Asn1159Thr Single submitter ⚠
- p.Asn136Ser Single submitter ⚠
- p.Asn206Ser Single submitter ⚠
- p.Asn662Ser Single submitter ⚠
- p.Asn675Asp Single submitter ⚠
- p.Asn756Thr Single submitter ⚠
- p.Asn856Ser Single submitter autosomal dominant auditory neuropathy 1 ⚠
- p.Asp1063Asn Single submitter ⚠
- p.Asp147His Single submitter ⚠
- p.Asp189Gly Single submitter ⚠
- p.Asp353Glu Single submitter ⚠
- p.Asp356His Single submitter ⚠
- p.Asp383Asn Single submitter ⚠
- p.Asp462Val Single submitter autosomal dominant auditory neuropathy 1 ⚠
- p.Asp473Asn Single submitter ⚠
- p.Asp476Tyr Single submitter auditory neuropathy ⚠
- p.Asp486Tyr Single submitter ⚠
- p.Asp488Gly Single submitter ⚠
- p.Asp677His Single submitter ⚠
- p.Asp698Glu Single submitter ⚠
- p.Asp763Asn Single submitter ⚠
- p.Asp877Tyr Single submitter ⚠
- p.Asp908Glu Single submitter ⚠
- p.Cys1158Arg Single submitter ⚠
- p.Cys195Ser Single submitter ⚠
- p.Cys341Ser Single submitter ⚠
- p.Cys827Phe Single submitter ⚠
- p.Gln1044Glu Single submitter ⚠
- p.Gln1070fs Single submitter
- p.Gln173Glu Single submitter hearing loss disorder ⚠
- p.Gln336Lys Single submitter ⚠
- p.Gln456Glu Single submitter ⚠
- p.Gln524Glu Single submitter ⚠
- p.Glu1020Lys Single submitter ⚠
- p.Glu1023Gly Single submitter ⚠
- p.Glu1041Gly Single submitter ⚠
- p.Glu1182Lys Single submitter ⚠
- p.Glu182Gly Single submitter ⚠
- p.Glu190Gly Single submitter ⚠
- p.Glu397Asp Single submitter ⚠
- p.Glu408Ala Single submitter ⚠
- p.Glu416Asp Single submitter ⚠
- p.Glu543Asp Single submitter ⚠
- p.Glu695fs Single submitter autosomal dominant auditory neuropathy 1
- p.Glu811Asp Single submitter ⚠
- p.Glu828Lys Single submitter ⚠
- p.Glu972Lys Single submitter ⚠
- p.Glu975Ter Single submitter
- p.Gly1056Ala Single submitter ⚠
- p.Gly315Asp Single submitter ⚠
- p.Gly384Val Single submitter ⚠
- p.Gly571Ser Single submitter ⚠
- p.Gly621Arg Single submitter ⚠
- p.His1120Pro Single submitter ⚠
- p.His1143Arg Single submitter ⚠
- p.His1143Asn Single submitter ⚠
- p.His216Tyr Single submitter ⚠
- p.His332Arg Single submitter ⚠
- p.His395Gln Single submitter ⚠
- p.His405Arg Single submitter ⚠
- p.His471Tyr Single submitter ⚠
- p.His523Leu Single submitter ⚠
- p.His657Tyr Single submitter ⚠
- p.His946Tyr Single submitter ⚠
- p.Ile230Ser Single submitter ⚠
- p.Ile320fs Single submitter
- p.Ile438fs Single submitter
- p.Ile440Val Single submitter ⚠
- p.Ile453Val Single submitter ⚠
- p.Ile468Val Single submitter ⚠
- p.Ile497Val Single submitter ⚠
- p.Ile629Phe Single submitter ⚠
- p.Ile699Met Single submitter ⚠
- p.Ile709Thr Single submitter ⚠
- p.Ile737fs Single submitter
- p.Ile754Phe Single submitter ⚠
- p.Ile889Met Single submitter ⚠
- p.Ile897Val Single submitter ⚠
- p.Ile958Phe Single submitter ⚠
- p.Leu1040Pro Single submitter ⚠
- p.Leu1193Phe Single submitter ⚠
- p.Leu135Phe Single submitter ⚠
- p.Leu229Val Single submitter ⚠
- p.Leu385Val Single submitter ⚠
- p.Leu489fs Single submitter
- p.Leu540Arg Single submitter ⚠
- p.Leu619Pro Single submitter ⚠
- p.Leu62Val Single submitter ⚠
- p.Leu749Met Single submitter ⚠
- p.Leu757Phe Single submitter ⚠
- p.Leu796Pro Single submitter ⚠
- p.Leu807Phe Single submitter ⚠
- p.Leu936Val Single submitter ⚠
- p.Lys1017Arg Single submitter ⚠
- p.Lys1017Glu Single submitter ⚠
- p.Lys1166fs Single submitter
- p.Lys241Glu Single submitter autosomal dominant auditory neuropathy 1 ⚠
- p.Lys319Glu Single submitter ⚠
- p.Lys515Asn Single submitter ⚠
- p.Lys702Asn Single submitter ⚠
- p.Lys806fs Single submitter
- p.Lys832Arg Single submitter ⚠
- p.Lys832Ter Single submitter
- p.Lys832Thr Single submitter ⚠
- p.Lys893Arg Single submitter ⚠
- p.Lys920Glu Single submitter ⚠
- p.Met264Ile Single submitter ⚠
- p.Met35Ile Single submitter ⚠
- p.Met423Leu Single submitter ⚠
- p.Met475Ile Single submitter ⚠
- p.Met753Val Single submitter ⚠
- p.Met790Ile Single submitter auditory neuropathy ⚠
- p.Met953Leu Single submitter hearing loss disorder ⚠
- p.Met974Val Single submitter ⚠
- p.Phe365Leu Single submitter ⚠
- p.Phe505Ser Single submitter ⚠
- p.Pro1083Leu Single submitter ⚠
- p.Pro11Ser Single submitter ⚠
- p.Pro142Arg Single submitter ⚠
- p.Pro375Leu Single submitter ⚠
- p.Pro41Ala Single submitter ⚠
- p.Pro44Arg Single submitter ⚠
- p.Pro564His Single submitter ⚠
- p.Pro582Thr Single submitter ⚠
- p.Pro589Ser Single submitter ⚠
- p.Pro593Ala Single submitter ⚠
- p.Pro594Arg Single submitter ⚠
- p.Pro594Gln Single submitter ⚠
- p.Pro594Thr Single submitter ⚠
- p.Pro609Ser Single submitter ⚠
- p.Pro611Arg Single submitter ⚠
- p.Pro636Ser Single submitter ⚠
- p.Pro818Ser Single submitter ⚠
- p.Pro940Ser Single submitter ⚠
- p.Pro941Ala Single submitter ⚠
- p.Pro942Ser Single submitter ⚠
- p.Ser1093Met Single submitter
- p.Ser1117Ala Single submitter ⚠
- p.Ser149Arg Single submitter ⚠
- p.Ser149Gly Single submitter ⚠
- p.Ser171Arg Single submitter ⚠
- p.Ser209Ile Single submitter autosomal dominant auditory neuropathy 1 ⚠
- p.Ser24Leu Single submitter ⚠
- p.Ser265Arg Single submitter ⚠
- p.Ser293Thr Single submitter ⚠
- p.Ser48Arg Single submitter ⚠
- p.Ser565Cys Single submitter ⚠
- p.Ser624Phe Single submitter ⚠
- p.Ser704Leu Single submitter ⚠
- p.Ser728Arg Single submitter ⚠
- p.Ser728Ile Single submitter ⚠
- p.Ser775Thr Single submitter ⚠
- p.Ser77Asn Single submitter ⚠
- p.Ser837fs Single submitter
- p.Ser954Phe Single submitter ⚠
- p.Ser959Gly Single submitter ⚠
- p.Ser968Pro Single submitter ⚠
- p.Thr1114Ala Single submitter ⚠
- p.Thr1130Ser Single submitter ⚠
- p.Thr1168Ala Single submitter ⚠
- p.Thr165fs Single submitter
- p.Thr204Ala Single submitter ⚠
- p.Thr685Ile Single submitter ⚠
- p.Thr747Ile Single submitter ⚠
- p.Thr825Ile Single submitter ⚠
- p.Thr873Lys Single submitter ⚠
- p.Thr873Ser Single submitter ⚠
- p.Thr880Ala Single submitter ⚠
- p.Thr917Arg Single submitter ⚠
- p.Thr938Ile Single submitter ⚠
- p.Thr966Ala Single submitter ⚠
- p.Tyr457His Single submitter ⚠
- p.Tyr513His Single submitter ⚠
- p.Tyr734Ser Single submitter ⚠
- p.Tyr964Cys Single submitter ⚠
- p.Tyr985Ter Single submitter
- p.Val1028Phe Single submitter ⚠