DNAH10 — 895 ClinVar variants
All ClinVar germline DNAH10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 441 flagged for review →
3 Pathogenic · 7 Likely pathogenic · 6 Conflicting · 82 Benign · 7 Benign/Likely benign · 107 Likely benign · 683 Uncertain significance
Full DNAH10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 441
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 403
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 403
-
DNAH10 p.Ala2444Val
Uncertain significance
Multiple submitters
spermatogenic failure 56
- DNAH10 p.Arg2111Trp Uncertain significance Multiple submitters
- DNAH10 p.Arg3955His Uncertain significance Multiple submitters
- DNAH10 p.Asp3319Gly Uncertain significance Multiple submitters
- DNAH10 p.Glu4042Gln Uncertain significance Multiple submitters
- DNAH10 p.Ser3788Phe Uncertain significance Multiple submitters
- DNAH10 p.Thr1584Met Uncertain significance Multiple submitters
- DNAH10 p.Thr2794Ala Uncertain significance Multiple submitters
- DNAH10 p.Thr4043Met Uncertain significance Multiple submitters
- DNAH10 p.Val2758Ala Uncertain significance Multiple submitters
- DNAH10 p.Ala1090Thr Uncertain significance Single submitter
- DNAH10 p.Ala1131Val Uncertain significance Single submitter
- DNAH10 p.Ala1289Thr Uncertain significance Single submitter
- DNAH10 p.Ala1316Glu Uncertain significance Single submitter
- DNAH10 p.Ala1346Thr Uncertain significance Single submitter
- DNAH10 p.Ala1346Val Uncertain significance Single submitter
- DNAH10 p.Ala1395Val Uncertain significance Single submitter
- DNAH10 p.Ala1422Val Uncertain significance Single submitter
- DNAH10 p.Ala1445Thr Uncertain significance Single submitter
- DNAH10 p.Ala1818Glu Uncertain significance Single submitter
- DNAH10 p.Ala195Thr Uncertain significance Single submitter
- DNAH10 p.Ala2205Glu Uncertain significance Single submitter
- DNAH10 p.Ala2355Asp Uncertain significance Single submitter
- DNAH10 p.Ala2692Pro Uncertain significance Single submitter
- DNAH10 p.Ala2752Thr Uncertain significance Single submitter
- DNAH10 p.Ala2796Ser Uncertain significance Single submitter
- DNAH10 p.Ala2855Thr Uncertain significance Single submitter
- DNAH10 p.Ala2872Val Uncertain significance Single submitter
- DNAH10 p.Ala2875Pro Uncertain significance Single submitter
- DNAH10 p.Ala3198Thr Uncertain significance Single submitter
- DNAH10 p.Ala3199Ser Uncertain significance Single submitter
- DNAH10 p.Ala3202Thr Uncertain significance Single submitter
- DNAH10 p.Ala3212Thr Uncertain significance Single submitter
- DNAH10 p.Ala323Val Uncertain significance Single submitter
- DNAH10 p.Ala3256Thr Uncertain significance Single submitter
- DNAH10 p.Ala3401Thr Uncertain significance Single submitter
- DNAH10 p.Ala353Ser Uncertain significance Single submitter
- DNAH10 p.Ala3576Thr Uncertain significance Single submitter
- DNAH10 p.Ala3774Val Uncertain significance Single submitter
- DNAH10 p.Ala3856Ser Uncertain significance Single submitter
- DNAH10 p.Ala3885Val Uncertain significance Single submitter
- DNAH10 p.Ala4044Val Uncertain significance Single submitter
- DNAH10 p.Ala4266Thr Uncertain significance Single submitter
- DNAH10 p.Ala4270Gly Uncertain significance Single submitter
- DNAH10 p.Ala4490Val Uncertain significance Single submitter
- DNAH10 p.Ala478Val Uncertain significance Single submitter
- DNAH10 p.Ala507Val Uncertain significance Single submitter
- DNAH10 p.Arg102Cys Uncertain significance Single submitter
- DNAH10 p.Arg1250Gln Uncertain significance Single submitter
- DNAH10 p.Arg1252His Uncertain significance Single submitter
- DNAH10 p.Arg1352His Uncertain significance Single submitter
- DNAH10 p.Arg1464Gly Uncertain significance Single submitter
- DNAH10 p.Arg1464Ser Uncertain significance Single submitter
- DNAH10 p.Arg1647Lys Uncertain significance Single submitter
- DNAH10 p.Arg1746Gln Uncertain significance Single submitter
- DNAH10 p.Arg1780Ser Uncertain significance Single submitter
- DNAH10 p.Arg1835Trp Uncertain significance Single submitter
- DNAH10 p.Arg1843Cys Uncertain significance Single submitter
- DNAH10 p.Arg1843His Uncertain significance Single submitter
- DNAH10 p.Arg1891Gln Uncertain significance Single submitter
- DNAH10 p.Arg1896Gln Uncertain significance Single submitter
- DNAH10 p.Arg1896Trp Uncertain significance Single submitter
- DNAH10 p.Arg2023Gln Uncertain significance Single submitter
- DNAH10 p.Arg2045Cys Uncertain significance Single submitter
- DNAH10 p.Arg2111Gln Uncertain significance Single submitter
- DNAH10 p.Arg2125Gly Uncertain significance Single submitter
- DNAH10 p.Arg2362Gln Uncertain significance Single submitter
- DNAH10 p.Arg2362Pro Uncertain significance Single submitter
- DNAH10 p.Arg3130Lys Uncertain significance Single submitter
- DNAH10 p.Arg3503Trp Uncertain significance Single submitter
- DNAH10 p.Arg3512Gln Uncertain significance Single submitter
- DNAH10 p.Arg3546Gln Uncertain significance Single submitter
- DNAH10 p.Arg3549Cys Uncertain significance Single submitter
- DNAH10 p.Arg3624Gln Uncertain significance Single submitter
- DNAH10 p.Arg3652Ser Uncertain significance Single submitter
- DNAH10 p.Arg3761Lys Uncertain significance Single submitter
- DNAH10 p.Arg3772Thr Uncertain significance Single submitter
- DNAH10 p.Arg3952Cys Uncertain significance Single submitter
- DNAH10 p.Arg3952Gly Uncertain significance Single submitter
- DNAH10 p.Arg3961Gln Uncertain significance Single submitter
- DNAH10 p.Arg400His Uncertain significance Single submitter
- DNAH10 p.Arg4072Lys Uncertain significance Single submitter
- DNAH10 p.Arg4210Pro Uncertain significance Single submitter
- DNAH10 p.Arg4406Ser Uncertain significance Single submitter
- DNAH10 p.Arg4424Trp Uncertain significance Single submitter
- DNAH10 p.Arg4470His Uncertain significance Single submitter
- DNAH10 p.Arg4489Gln Uncertain significance Single submitter
- DNAH10 p.Arg4545Gln Uncertain significance Single submitter
- DNAH10 p.Arg477Pro Uncertain significance Single submitter
- DNAH10 p.Arg518Gln Uncertain significance Single submitter
- DNAH10 p.Arg518Trp Uncertain significance Single submitter
- DNAH10 p.Arg857Gln Uncertain significance Single submitter
- DNAH10 p.Arg937Gln Uncertain significance Single submitter
- DNAH10 p.Arg948Trp Uncertain significance Single submitter
- DNAH10 p.Asn1078Lys Uncertain significance Single submitter
- DNAH10 p.Asn1096Ile Uncertain significance Single submitter
- DNAH10 p.Asn1278Ser Uncertain significance Single submitter
- DNAH10 p.Asn1307Ser Uncertain significance Single submitter
- DNAH10 p.Asn1660Ile Uncertain significance Single submitter
- DNAH10 p.Asn1723Ser Uncertain significance Single submitter
- DNAH10 p.Asn2158Asp Uncertain significance Single submitter
- DNAH10 p.Asn216Ser Uncertain significance Single submitter
- DNAH10 p.Asn2333Lys Uncertain significance Single submitter
- DNAH10 p.Asn2711Ser Uncertain significance Single submitter
- DNAH10 p.Asn2888Lys Uncertain significance Single submitter
- DNAH10 p.Asn3579Ser Uncertain significance Single submitter
- DNAH10 p.Asn3612Ser Uncertain significance Single submitter
- DNAH10 p.Asn3705Ser Uncertain significance Single submitter
- DNAH10 p.Asn3941Ile Uncertain significance Single submitter
- DNAH10 p.Asn667Asp Uncertain significance Single submitter
- DNAH10 p.Asn841Ser Uncertain significance Single submitter
- DNAH10 p.Asp118Gly Uncertain significance Single submitter
- DNAH10 p.Asp1363Asn Uncertain significance Single submitter
- DNAH10 p.Asp1463Glu Uncertain significance Single submitter
- DNAH10 p.Asp1498Glu Uncertain significance Single submitter
- DNAH10 p.Asp1674Asn Uncertain significance Single submitter
- DNAH10 p.Asp1702Asn Uncertain significance Single submitter
- DNAH10 p.Asp1702Glu Uncertain significance Single submitter
- DNAH10 p.Asp2193Asn Uncertain significance Single submitter
- DNAH10 p.Asp2193Glu Uncertain significance Single submitter
- DNAH10 p.Asp2351Val Uncertain significance Single submitter
- DNAH10 p.Asp2454His Uncertain significance Single submitter
- DNAH10 p.Asp2897Asn Uncertain significance Single submitter
- DNAH10 p.Asp3455Glu Uncertain significance Single submitter
- DNAH10 p.Asp3601Ala Uncertain significance Single submitter
- DNAH10 p.Asp3601Asn Uncertain significance Single submitter
- DNAH10 p.Asp3925Glu Uncertain significance Single submitter
- DNAH10 p.Asp537Asn Uncertain significance Single submitter
- DNAH10 p.Asp537Tyr Uncertain significance Single submitter
- DNAH10 p.Asp571Gly Uncertain significance Single submitter
- DNAH10 p.Asp842Asn Uncertain significance Single submitter
- DNAH10 p.Asp942Glu Uncertain significance Single submitter
- DNAH10 p.Cys148Ser Uncertain significance Single submitter
- DNAH10 p.Cys3953Tyr Uncertain significance Single submitter
- DNAH10 p.Gln1144Leu Uncertain significance Single submitter
- DNAH10 p.Gln1410Arg Uncertain significance Single submitter
- DNAH10 p.Gln1576Lys Uncertain significance Single submitter
- DNAH10 p.Gln2029Arg Uncertain significance Single submitter
- DNAH10 p.Gln2197Glu Uncertain significance Single submitter
- DNAH10 p.Gln255Arg Uncertain significance Single submitter
- DNAH10 p.Gln266Arg Uncertain significance Single submitter
- DNAH10 p.Gln2853His Uncertain significance Single submitter
- DNAH10 p.Gln3127Arg Uncertain significance Single submitter
- DNAH10 p.Gln3586Lys Uncertain significance Single submitter
- DNAH10 p.Gln3622Glu Uncertain significance Single submitter
- DNAH10 p.Gln4580Lys Uncertain significance Single submitter
- DNAH10 p.Glu1031Lys Uncertain significance Single submitter
- DNAH10 p.Glu108Lys Uncertain significance Single submitter
- DNAH10 p.Glu1387Lys Uncertain significance Single submitter
- DNAH10 p.Glu1459Lys Uncertain significance Single submitter
Predictors split 34
The independent predictors disagree with each other — read with care.
- DNAH10 p.Arg1428Pro Uncertain significance Single submitter
- DNAH10 p.Arg2302Gln Uncertain significance Single submitter
-
DNAH10 p.Arg258Trp
Likely pathogenic
Single submitter
spermatogenic failure 56
- DNAH10 p.Arg3574Pro Uncertain significance Single submitter
-
DNAH10 p.Arg4081Cys
Uncertain significance
Single submitter
spermatogenic failure 56
- DNAH10 p.Asn2711Lys Uncertain significance Single submitter
- DNAH10 p.Asn4271Lys Uncertain significance Single submitter
- DNAH10 p.Asn997Thr Uncertain significance Single submitter
- DNAH10 p.Asp1899Glu Uncertain significance Single submitter
- DNAH10 p.Cys1164Arg Uncertain significance Single submitter
- DNAH10 p.Cys312Arg Uncertain significance Single submitter
- DNAH10 p.Glu2292Lys Uncertain significance Single submitter
- DNAH10 p.Glu3201Gly Uncertain significance Single submitter
- DNAH10 p.Glu3371Gly Uncertain significance Single submitter
- DNAH10 p.Gly2924Ser Uncertain significance Single submitter
- DNAH10 p.Gly970Asp Uncertain significance Single submitter
- DNAH10 p.Ile1503Thr Uncertain significance Single submitter
- DNAH10 p.Ile4530Phe Uncertain significance Single submitter
- DNAH10 p.Ile713Thr Uncertain significance Single submitter
-
DNAH10 p.Leu1290Phe
Uncertain significance
Single submitter
male infertility
- DNAH10 p.Leu2251Arg Uncertain significance Single submitter
- DNAH10 p.Leu2398Phe Uncertain significance Single submitter
- DNAH10 p.Lys1294Asn Uncertain significance Single submitter
- DNAH10 p.Lys2161Arg Uncertain significance Single submitter
- DNAH10 p.Lys3010Thr Uncertain significance Single submitter
- DNAH10 p.Lys3842Arg Uncertain significance Single submitter
- DNAH10 p.Lys740Asn Uncertain significance Single submitter
- DNAH10 p.Met1636Val Benign Single submitter
- DNAH10 p.Phe2792Leu Uncertain significance Single submitter
- DNAH10 p.Phe3626Leu Uncertain significance Single submitter
- DNAH10 p.Ser2816Arg Uncertain significance Single submitter
- DNAH10 p.Ser4004Phe Uncertain significance Single submitter
- DNAH10 p.Thr3518Met Likely benign Single submitter
- DNAH10 p.Val1125Glu Uncertain significance Single submitter
All DNAH10 variants
Pathogenic 3
- p.Arg1302Ter Single submitter oligospermia
- p.Glu2539fs No assertion criteria spermatogenic failure 56
- p.Ser4197fs No assertion criteria spermatogenic failure 56
Likely pathogenic 7
- c.10369delG Single submitter spermatogenic failure 56
- p.Arg2006Ter Single submitter spermatogenic failure 56
- p.Arg258Trp Single submitter spermatogenic failure 56 ⚠
- p.Gln2567Ter Single submitter spermatogenic failure 56
- p.Glu790Ter Single submitter spermatogenic failure 56
- p.Gly4398Arg Single submitter spermatogenic failure 56
- p.Lys2566fs Single submitter spermatogenic failure 56
Conflicting classifications of pathogenicity 6
- p.Ala301Thr Single submitter ⚠
- p.Arg1113Trp Single submitter ⚠
- p.Arg3955Cys Single submitter
- p.Asp1838Asn Single submitter ⚠
- p.Cys1136Tyr Single submitter ⚠
- p.Val3001Leu Single submitter
Benign 82
- c.10722+4T>C Multiple submitters
- c.6292-20T>C Multiple submitters
- c.842-16A>G Multiple submitters
- c.8824-5C>T Multiple submitters
- c.9199+9G>A Multiple submitters
- c.9815+9C>T Multiple submitters
- p.Ala2973Thr Multiple submitters
- p.Ala3247= Multiple submitters
- p.Arg1882Gln Multiple submitters
- p.Arg2187Cys Multiple submitters
- p.Arg3693Trp Multiple submitters
- p.Arg4470Cys Multiple submitters
- p.Arg470Gln Multiple submitters
- p.Asn1103Ser Multiple submitters
- p.Asn1218Ser Multiple submitters
- p.Asn4464= Multiple submitters
- p.Asp3180= Multiple submitters
- p.Gln3083= Multiple submitters
- p.Gln591Pro Multiple submitters
- p.Gln724= Multiple submitters
- p.Glu1304Lys Multiple submitters
- p.Glu2335Gln Multiple submitters
- p.Glu3243= Multiple submitters
- p.Gly1637= Multiple submitters
- p.Gly874Ser Multiple submitters
- p.His1171Tyr Multiple submitters
- p.His1288Arg Multiple submitters
- p.Ile541Val Multiple submitters
- p.Leu1749Val Multiple submitters
- p.Leu469= Multiple submitters
- p.Leu485= Multiple submitters
- p.Lys3010= Multiple submitters
- p.Lys3279Glu Multiple submitters
- p.Phe2218= Multiple submitters
- p.Ser228Pro Multiple submitters
- p.Ser297= Multiple submitters
- p.Ser3091Thr Multiple submitters
- p.Ser3326Asn Multiple submitters
- p.Ser3447= Multiple submitters
- p.Ser4436= Multiple submitters
- p.Thr1842Met Multiple submitters
- p.Thr2104Met Multiple submitters
- p.Val1661Ile Multiple submitters
- p.Val2014Met Multiple submitters
- p.Val2229= Multiple submitters
- p.Val2839Met Multiple submitters
- p.Val3464Leu Multiple submitters
- p.Val435Met Multiple submitters
- c.11506+3G>A Single submitter
- c.12106-6G>A Single submitter
- c.9998-6C>T Single submitter
- p.Ala3214= Single submitter
- p.Ala4044= Single submitter
- p.Ala918= Single submitter
- p.Arg1654Cys Single submitter
- p.Arg2634His Single submitter
- p.Asn159= Single submitter
- p.Asn3665= Single submitter
- p.Cys1995= Single submitter
- p.Gln3586= Single submitter
- p.Gln4188= Single submitter
- p.Ile1513= Single submitter
- p.Met1636Val Single submitter ⚠
- p.Met835Ile Single submitter
- p.Ser234= Single submitter
- p.Thr4571= Single submitter
- p.Ala1801= No assertion criteria DNAH10-related disorder
- p.Arg3494= No assertion criteria DNAH10-related disorder
- p.Asn2202= No assertion criteria DNAH10-related disorder
- p.Asn2601Ser No assertion criteria DNAH10-related disorder
- p.Asn3612= No assertion criteria DNAH10-related disorder
- p.Asp1885Glu No assertion criteria DNAH10-related disorder
- p.Asp2481= No assertion criteria DNAH10-related disorder
- p.Asp3582Glu No assertion criteria DNAH10-related disorder
- p.Asp3631Asn No assertion criteria DNAH10-related disorder
- p.His2731= No assertion criteria DNAH10-related disorder
- p.His702= No assertion criteria DNAH10-related disorder
- p.Ile873= No assertion criteria DNAH10-related disorder
- p.Leu2453His No assertion criteria DNAH10-related disorder
- p.Leu3707_Leu3710del No assertion criteria DNAH10-related disorder
- p.Thr2549= No assertion criteria DNAH10-related disorder
- p.Val3934Phe No assertion criteria DNAH10-related disorder
Benign/Likely benign 7
- c.621+9G>A Multiple submitters
- p.Asn1920= Multiple submitters
- p.Asp2008= Multiple submitters
- p.Glu2990= Multiple submitters
- p.His2857= Multiple submitters
- p.Ile4094Thr Multiple submitters
- p.Ser3197= Multiple submitters
Likely benign 107
- p.Ala1818Val Multiple submitters
- p.Leu4431= Multiple submitters
- p.Thr3283Met Multiple submitters
- p.Thr3738Ile Multiple submitters
- c.12916+8_12916+9del Single submitter
- c.13478-431G>A Single submitter
- c.6439-7C>T Single submitter
- c.7167+13del Single submitter
- c.8635-6del Single submitter
- p.Ala135= Single submitter
- p.Ala135Val Single submitter
- p.Ala195Ser Single submitter
- p.Ala2205Val Single submitter
- p.Ala2264= Single submitter
- p.Ala3087= Single submitter
- p.Ala497= Single submitter
- p.Ala843= Single submitter
- p.Arg102His Single submitter
- p.Arg1428Gln Single submitter
- p.Arg1835Gln Single submitter
- p.Arg2155= Single submitter
- p.Arg2376Gln Single submitter
- p.Arg2862= Single submitter
- p.Arg3525= Single submitter
- p.Arg3600His Single submitter
- p.Arg3802Gly Single submitter
- p.Arg400= Single submitter
- p.Arg857= Single submitter
- p.Asn1307= Single submitter
- p.Asn194= Single submitter
- p.Asn3940Lys Single submitter
- p.Asp1813= Single submitter
- p.Asp3119Gly Single submitter
- p.Asp571= Single submitter
- p.Gln2508= Single submitter
- p.Gln2853Arg Single submitter
- p.Glu1068Lys Single submitter
- p.Glu1414= Single submitter
- p.Glu1481Lys Single submitter
- p.Glu238Asp Single submitter
- p.Glu3270= Single submitter
- p.Gly3972Glu Single submitter
- p.Gly572Ser Single submitter
- p.His1171Arg Single submitter
- p.Ile1275Met Single submitter
- p.Ile2570Leu Single submitter
- p.Ile4096= Single submitter
- p.Ile4222Thr Single submitter
- p.Ile4533Val Single submitter
- p.Leu1158= Single submitter
- p.Leu2207= Single submitter
- p.Leu2728= Single submitter
- p.Leu3670= Single submitter
- p.Leu3798= Single submitter
- p.Leu4010= Single submitter
- p.Leu4342= Single submitter
- p.Lys4090= Single submitter
- p.Met146Val Single submitter
- p.Phe4260= Single submitter
- p.Pro1898= Single submitter
- p.Pro211= Single submitter
- p.Pro2538= Single submitter
- p.Pro3100= Single submitter
- p.Pro3374= Single submitter
- p.Pro3506= Single submitter
- p.Pro4137= Single submitter
- p.Pro4526= Single submitter
- p.Ser1733Pro Single submitter
- p.Ser3122= Single submitter
- p.Ser3679= Single submitter
- p.Ser4427= Single submitter
- p.Ser772Leu Single submitter
- p.Ser941Arg Single submitter
- p.Thr2652= Single submitter
- p.Thr3518Met Single submitter ⚠
- p.Thr393Met Single submitter
- p.Thr4344= Single submitter
- p.Thr768Ala Single submitter
- p.Tyr1675= Single submitter
- p.Tyr2627= Single submitter
- p.Val1097Ile Single submitter
- p.Val3135= Single submitter
- p.Val3209Ile Single submitter
- p.Val3305Met Single submitter
- p.Val4560= Single submitter
- p.Val965Ile Single submitter
- c.11766+6C>T No assertion criteria DNAH10-related disorder
- c.2987+8C>T No assertion criteria DNAH10-related disorder
- p.Ala2444= No assertion criteria DNAH10-related disorder
- p.Arg3763= No assertion criteria DNAH10-related disorder
- p.Glu3744= No assertion criteria DNAH10-related disorder
- p.Gly4465= No assertion criteria DNAH10-related disorder
- p.Ile1837= No assertion criteria DNAH10-related disorder
- p.Ile3372= No assertion criteria DNAH10-related disorder
- p.Leu2314= No assertion criteria DNAH10-related disorder
- p.Phe803= No assertion criteria DNAH10-related disorder
- p.Pro1643= No assertion criteria DNAH10-related disorder
- p.Pro3277= No assertion criteria DNAH10-related disorder
- p.Ser3656= No assertion criteria DNAH10-related disorder
- p.Ser4004= No assertion criteria DNAH10-related disorder
- p.Thr1957= No assertion criteria DNAH10-related disorder
- p.Thr222= No assertion criteria DNAH10-related disorder
- p.Thr2226= No assertion criteria DNAH10-related disorder
- p.Tyr736Phe No assertion criteria DNAH10-related disorder
- p.Val2942= No assertion criteria DNAH10-related disorder
- p.Val3209= No assertion criteria DNAH10-related disorder
- p.Val4364= No assertion criteria DNAH10-related disorder
Uncertain significance 683
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala2444Val Multiple submitters spermatogenic failure 56 ⚠
- p.Arg2111Trp Multiple submitters ⚠
- p.Arg2957Gln Multiple submitters
- p.Arg3955His Multiple submitters ⚠
- p.Asp3319Gly Multiple submitters ⚠
- p.Glu4042Gln Multiple submitters ⚠
- p.Gly4445Glu Multiple submitters
- p.Ile4202Thr Multiple submitters
- p.Ser3788Phe Multiple submitters ⚠
- p.Thr1584Met Multiple submitters ⚠
- p.Thr2794Ala Multiple submitters ⚠
- p.Thr4043Met Multiple submitters ⚠
- p.Val2758Ala Multiple submitters ⚠
- c.10353-8C>T Single submitter
- c.396+2T>G Single submitter
- c.9640+19A>G Single submitter
- p.Ala1090Thr Single submitter ⚠
- p.Ala1131Val Single submitter ⚠
- p.Ala1289Thr Single submitter ⚠
- p.Ala1316Glu Single submitter ⚠
- p.Ala1346Thr Single submitter ⚠
- p.Ala1346Val Single submitter ⚠
- p.Ala1395Val Single submitter ⚠
- p.Ala1422Val Single submitter ⚠
- p.Ala1445Thr Single submitter ⚠
- p.Ala1818Glu Single submitter ⚠
- p.Ala1939Thr Single submitter
- p.Ala195Thr Single submitter ⚠
- p.Ala2057Val Single submitter
- p.Ala2134Ser Single submitter
- p.Ala2153Thr Single submitter
- p.Ala2205Glu Single submitter ⚠
- p.Ala2355Asp Single submitter ⚠
- p.Ala2692Pro Single submitter ⚠
- p.Ala2752Thr Single submitter ⚠
- p.Ala2796Ser Single submitter ⚠
- p.Ala2855Thr Single submitter ⚠
- p.Ala2872Val Single submitter ⚠
- p.Ala2875Pro Single submitter ⚠
- p.Ala3198Thr Single submitter ⚠
- p.Ala3199Ser Single submitter ⚠
- p.Ala3199Thr Single submitter
- p.Ala3202Gly Single submitter
- p.Ala3202Thr Single submitter ⚠
- p.Ala3212Thr Single submitter ⚠
- p.Ala323Val Single submitter ⚠
- p.Ala3247Val Single submitter
- p.Ala3256Thr Single submitter ⚠
- p.Ala3401Thr Single submitter ⚠
- p.Ala3474Gly Single submitter
- p.Ala3474Val Single submitter
- p.Ala353Ser Single submitter ⚠
- p.Ala3576Thr Single submitter ⚠
- p.Ala3774Val Single submitter ⚠
- p.Ala3856Ser Single submitter ⚠
- p.Ala3885Val Single submitter ⚠
- p.Ala4044Thr Single submitter
- p.Ala4044Val Single submitter ⚠
- p.Ala4143Thr Single submitter
- p.Ala4143Val Single submitter
- p.Ala4266Thr Single submitter ⚠
- p.Ala4270Gly Single submitter ⚠
- p.Ala4282Thr Single submitter
- p.Ala4455Val Single submitter
- p.Ala4490Val Single submitter ⚠
- p.Ala478Val Single submitter ⚠
- p.Ala487Thr Single submitter
- p.Ala507Val Single submitter ⚠
- p.Ala809Val Single submitter
- p.Arg102Cys Single submitter ⚠
- p.Arg1250Gln Single submitter ⚠
- p.Arg1252His Single submitter ⚠
- p.Arg1352His Single submitter ⚠
- p.Arg1428Pro Single submitter ⚠
- p.Arg1431His Single submitter
- p.Arg1464Gly Single submitter ⚠
- p.Arg1464Ser Single submitter ⚠
- p.Arg1541Leu Single submitter
- p.Arg1647Lys Single submitter ⚠
- p.Arg1654His Single submitter
- p.Arg1746Gln Single submitter ⚠
- p.Arg1780Ser Single submitter ⚠
- p.Arg1835Trp Single submitter ⚠
- p.Arg1843Cys Single submitter ⚠
- p.Arg1843His Single submitter ⚠
- p.Arg1843Leu Single submitter
- p.Arg1853Lys Single submitter
- p.Arg1891Gln Single submitter ⚠
- p.Arg1896Gln Single submitter ⚠
- p.Arg1896Trp Single submitter ⚠
- p.Arg1904Cys Single submitter
- p.Arg2006Gln Single submitter spermatogenic failure 56
- p.Arg2023Gln Single submitter ⚠
- p.Arg2045Cys Single submitter ⚠
- p.Arg2045Pro Single submitter
- p.Arg2059His Single submitter
- p.Arg2111Gln Single submitter ⚠
- p.Arg2125Gly Single submitter ⚠
- p.Arg2185Cys Single submitter
- p.Arg2224His Single submitter
- p.Arg2279Gly Single submitter
- p.Arg2302Gln Single submitter ⚠
- p.Arg2362Gln Single submitter ⚠
- p.Arg2362Pro Single submitter ⚠
- p.Arg2554Leu Single submitter
- p.Arg2622Gln Single submitter
- p.Arg2681Pro Single submitter
- p.Arg2696Cys Single submitter
- p.Arg2696His Single submitter
- p.Arg2779Trp Single submitter
- p.Arg2862Cys Single submitter
- p.Arg2862His Single submitter
- p.Arg2905Trp Single submitter
- p.Arg2908Cys Single submitter
- p.Arg2908His Single submitter
- p.Arg2908Ser Single submitter
- p.Arg2957Gly Single submitter
- p.Arg3130Lys Single submitter ⚠
- p.Arg3376Lys Single submitter
- p.Arg3462Trp Single submitter
- p.Arg3503Trp Single submitter ⚠
- p.Arg3512Gln Single submitter ⚠
- p.Arg3546Gln Single submitter ⚠
- p.Arg3549Cys Single submitter ⚠
- p.Arg3574Pro Single submitter ⚠
- p.Arg3624Gln Single submitter ⚠
- p.Arg3624Trp Single submitter
- p.Arg3652Ser Single submitter ⚠
- p.Arg3761Lys Single submitter ⚠
- p.Arg3767Trp Single submitter
- p.Arg3772Thr Single submitter ⚠
- p.Arg3952Cys Single submitter ⚠
- p.Arg3952Gly Single submitter ⚠
- p.Arg3958Trp Single submitter
- p.Arg3961Gln Single submitter ⚠
- p.Arg400His Single submitter ⚠
- p.Arg4072Lys Single submitter ⚠
- p.Arg407Gly Single submitter
- p.Arg4081Cys Single submitter spermatogenic failure 56 ⚠
- p.Arg4210Pro Single submitter ⚠
- p.Arg4217Cys Single submitter
- p.Arg4292Pro Single submitter
- p.Arg4292Ter Single submitter spermatogenic failure 56
- p.Arg4314His Single submitter
- p.Arg433Gln Single submitter
- p.Arg4366Gln Single submitter
- p.Arg4366Trp Single submitter
- p.Arg4406Ser Single submitter ⚠
- p.Arg440Ter Single submitter spermatogenic failure 56
- p.Arg4424Trp Single submitter ⚠
- p.Arg4425Gln Single submitter
- p.Arg4470His Single submitter ⚠
- p.Arg4489Gln Single submitter ⚠
- p.Arg4545Gln Single submitter ⚠
- p.Arg4554Ser Single submitter
- p.Arg477Pro Single submitter ⚠
- p.Arg513Gln Single submitter
- p.Arg518Gln Single submitter ⚠
- p.Arg518Trp Single submitter ⚠
- p.Arg857Gln Single submitter ⚠
- p.Arg937Gln Single submitter ⚠
- p.Arg948Trp Single submitter ⚠
- p.Asn1078Lys Single submitter ⚠
- p.Asn1096Ile Single submitter ⚠
- p.Asn1278Ser Single submitter ⚠
- p.Asn1307Ser Single submitter ⚠
- p.Asn1660Ile Single submitter ⚠
- p.Asn1673Lys Single submitter
- p.Asn1723Ser Single submitter ⚠
- p.Asn2158Asp Single submitter ⚠
- p.Asn216Ser Single submitter ⚠
- p.Asn2333Lys Single submitter ⚠
- p.Asn2433Ser Single submitter
- p.Asn2711Lys Single submitter ⚠
- p.Asn2711Ser Single submitter ⚠
- p.Asn2888Lys Single submitter ⚠
- p.Asn3579Asp Single submitter
- p.Asn3579Ser Single submitter ⚠
- p.Asn3612Ser Single submitter ⚠
- p.Asn3665Ser Single submitter
- p.Asn3705Ser Single submitter ⚠
- p.Asn3941Ile Single submitter ⚠
- p.Asn4271Lys Single submitter ⚠
- p.Asn4361Ser Single submitter
- p.Asn667Asp Single submitter ⚠
- p.Asn841Ser Single submitter ⚠
- p.Asn997Thr Single submitter ⚠
- p.Asp118Gly Single submitter ⚠
- p.Asp1363Asn Single submitter ⚠
- p.Asp1463Glu Single submitter ⚠
- p.Asp1498Glu Single submitter ⚠
- p.Asp1674Asn Single submitter ⚠
- p.Asp1692Asn Single submitter
- p.Asp1702Asn Single submitter ⚠
- p.Asp1702Glu Single submitter ⚠
- p.Asp1813Gly Single submitter
- p.Asp1899Glu Single submitter ⚠
- p.Asp1930Asn Single submitter
- p.Asp2043Gly Single submitter
- p.Asp2079Ala Single submitter
- p.Asp2079Asn Single submitter
- p.Asp2079Glu Single submitter
- p.Asp2147His Single submitter
- p.Asp2193Asn Single submitter ⚠
- p.Asp2193Glu Single submitter ⚠
- p.Asp2351Val Single submitter ⚠
- p.Asp2454His Single submitter ⚠
- p.Asp2518Gly Single submitter
- p.Asp2610His Single submitter
- p.Asp2897Asn Single submitter ⚠
- p.Asp2897Gly Single submitter
- p.Asp2898Gly Single submitter
- p.Asp2959Asn Single submitter
- p.Asp3267His Single submitter
- p.Asp3455Glu Single submitter ⚠
- p.Asp3534Asn Single submitter
- p.Asp3582Ala Single submitter
- p.Asp3601Ala Single submitter ⚠
- p.Asp3601Asn Single submitter ⚠
- p.Asp3635His Single submitter
- p.Asp3894Tyr Single submitter
- p.Asp3925Glu Single submitter ⚠
- p.Asp3965fs Single submitter spermatogenic failure 56
- p.Asp4213Asn Single submitter
- p.Asp4225Ala Single submitter
- p.Asp4315Asn Single submitter
- p.Asp537Asn Single submitter ⚠
- p.Asp537Tyr Single submitter ⚠
- p.Asp571Gly Single submitter ⚠
- p.Asp842Asn Single submitter ⚠
- p.Asp942Glu Single submitter ⚠
- p.Cys1164Arg Single submitter ⚠
- p.Cys148Ser Single submitter ⚠
- p.Cys1648Arg Single submitter spermatogenic failure 56
- p.Cys1782Tyr Single submitter
- p.Cys2084Ser Single submitter
- p.Cys3062Phe Single submitter
- p.Cys312Arg Single submitter ⚠
- p.Cys3953Tyr Single submitter ⚠
- p.Gln1144Leu Single submitter ⚠
- p.Gln1410Arg Single submitter ⚠
- p.Gln1576Lys Single submitter ⚠
- p.Gln1795Arg Single submitter
- p.Gln1994Arg Single submitter
- p.Gln2029Arg Single submitter ⚠
- p.Gln2197Glu Single submitter ⚠
- p.Gln255Arg Single submitter ⚠
- p.Gln266Arg Single submitter ⚠
- p.Gln2853His Single submitter ⚠
- p.Gln2928Arg Single submitter
- p.Gln3127Arg Single submitter ⚠
- p.Gln3586Lys Single submitter ⚠
- p.Gln3622Glu Single submitter ⚠
- p.Gln3862Pro Single submitter
- p.Gln4150His Single submitter
- p.Gln4580Lys Single submitter ⚠
- p.Glu1031Lys Single submitter ⚠
- p.Glu108Lys Single submitter ⚠
- p.Glu1387Lys Single submitter ⚠
- p.Glu1459Lys Single submitter ⚠
- p.Glu1486Lys Single submitter ⚠
- p.Glu1525Gly Single submitter ⚠
- p.Glu1550Lys Single submitter
- p.Glu1590Lys Single submitter
- p.Glu1897Asp Single submitter ⚠
- p.Glu1978Lys Single submitter
- p.Glu2292Lys Single submitter ⚠
- p.Glu2301fs Single submitter
- p.Glu2447Gly Single submitter
- p.Glu2539Asp Single submitter ⚠
- p.Glu2560Ala Single submitter ⚠
- p.Glu2620Lys Single submitter ⚠
- p.Glu2790Gly Single submitter ⚠
- p.Glu3020Asp Single submitter ⚠
- p.Glu3020Lys Single submitter
- p.Glu3188Lys Single submitter
- p.Glu3201Gly Single submitter ⚠
- p.Glu3201Lys Single submitter
- p.Glu3215Lys Single submitter
- p.Glu3223Lys Single submitter
- p.Glu3241Lys Single submitter
- p.Glu3286Val Single submitter ⚠
- p.Glu3346Ala Single submitter ⚠
- p.Glu3346Lys Single submitter ⚠
- p.Glu3371Gly Single submitter ⚠
- p.Glu3392Lys Single submitter
- p.Glu3569Gly Single submitter ⚠
- p.Glu3615Gly Single submitter
- p.Glu387Lys Single submitter
- p.Glu4176Lys Single submitter ⚠
- p.Glu4265Lys Single submitter
- p.Glu4435Lys Single submitter ⚠
- p.Glu544Ala Single submitter
- p.Glu742Lys Single submitter ⚠
- p.Glu816Gly Single submitter
- p.Glu86Asp Single submitter ⚠
- p.Gly1542Ser Single submitter
- p.Gly1725Ser Single submitter ⚠
- p.Gly1921Val Single submitter
- p.Gly2123Val Single submitter