DNAH17 — 1512 ClinVar variants
All ClinVar germline DNAH17 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 674 flagged for review →
7 Pathogenic · 1 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 12 Conflicting · 354 Benign · 168 Likely benign · 955 Uncertain significance
Full DNAH17 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 674
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 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DNAH17 p.Ala1244Thr
Conflicting
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala4215Gly
Conflicting
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg2910Trp
Conflicting
Single submitter
Inborn genetic diseases
-
DNAH17 p.Leu97Phe
Conflicting
Single submitter
Inborn genetic diseases
-
DNAH17 p.Lys2743Arg
Conflicting
Single submitter
Inborn genetic diseases
-
DNAH17 p.Thr1448Met
Conflicting
Single submitter
Inborn genetic diseases
-
DNAH17 p.Thr960Arg
Conflicting
Single submitter
Inborn genetic diseases
-
DNAH17 p.Val1334Met
Conflicting
Single submitter
Inborn genetic diseases
-
DNAH17 p.Val1600Met
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 606
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 606
-
DNAH17 p.Ala1014Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAH17 p.Arg1217Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAH17 p.Arg4101Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAH17 p.Arg4246His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAH17 p.Asn2661Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAH17 p.Gln4011Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAH17 p.Glu2382Gln
Uncertain significance
Multiple submitters
spermatogenic failure 39
-
DNAH17 p.Glu3698Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAH17 p.Gly3490Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAH17 p.Ile4204Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAH17 p.Thr2320Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAH17 p.Thr3735Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAH17 p.Thr386Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAH17 p.Ala1097Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala1106Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala111Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala111Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala111Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala1176Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala1194Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala1747Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala1929Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala213Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala215Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala2362Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala2631Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala2631Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala2634Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala2634Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala2711Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala2751Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala2781Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala2841Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala2848Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala3101Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala3121Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala3132Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala323Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala3273Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala33Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala3409Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala3444Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala3565Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala3732Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala3779Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala3779Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala3823Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala3921Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala3921Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala3968Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala4029Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala4038Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala4108Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala4187Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala4222Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala4294Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala4294Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala4298Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala4366Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala4392Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala4449Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala4449Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala4449Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala522Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala568Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala58Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala59Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala619Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala646Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala665Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala677Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala733Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala814Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala814Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala823Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala844Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg1067Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAH17 p.Arg1078Gln Uncertain significance Single submitter
-
DNAH17 p.Arg1078Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg1079His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg1201Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg1202Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg1274Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg1277His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg1398His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg1433Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg1519His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg1659Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg1790His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg1796Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg180Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg1994Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg1998Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg2041Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg2084Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg2150Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg2232Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg2232Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg2307Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg234Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg2794Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg2971His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg3003Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg3035Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg3319Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg3319Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg3337Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg3374Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg3602His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg3942Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg3942Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg3942Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg4104Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg4173His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg4193Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg4193His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg4193Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg4247His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg4285Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg4361Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg4383Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg4383His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg4395Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg4430Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg4430His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg488Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg502Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg711Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg828His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg879His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg902Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg902His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg922Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg922Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg95Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg989Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Asn1230Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Asn1539Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Asn1551Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Asn1595Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Asn2087Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Asn2142Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Asn2142Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Asn2456Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Asn2605Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Asn2661Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Asn2754Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Asn2892Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Asn3284Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Asn36Lys
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 59
The independent predictors disagree with each other — read with care.
-
DNAH17 p.Ala2289Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala4221Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ala841Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg2082Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg2082Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg2282Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg4415Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg781Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Arg8Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAH17 p.Arg944Trp Likely benign Single submitter
-
DNAH17 p.Asn3077Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Asn788Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Asp1804Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Asp1827Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Asp2860Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Asp2955Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Asp3407Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Gln2862His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Gln3103Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Gln779Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Glu1982Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Glu2043Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Glu2348Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Glu2374Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Glu3541Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Glu3915Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Glu4355Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Gly2832Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Gly4389Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ile1980Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Leu1323Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Leu1985Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Leu2011Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Leu3357Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Lys2555Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Lys2944Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Lys4443Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Lys625Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Met4339Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Met4350Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAH17 p.Phe2716Leu Uncertain significance Single submitter
-
DNAH17 p.Phe2726Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Phe3534Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Phe4172Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAH17 p.Phe4314Leu Likely benign Single submitter
-
DNAH17 p.Phe552Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Pro131Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Pro3228Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ser1594Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Ser2576Tyr
Uncertain significance
Single submitter
spermatogenic failure 39
-
DNAH17 p.Tyr3712Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Val2124Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Val2968Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Val2994Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Val3617Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Val3685Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Val3889Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH17 p.Gly1256Arg
Likely pathogenic
No assertion criteria
Short stature
-
DNAH17 p.Phe150Leu
Benign
No assertion criteria
DNAH17-related disorder
All DNAH17 variants
Pathogenic 7
- p.Lys360Ter Multiple submitters male infertility
- p.Cys1829Tyr Single submitter spermatogenic failure 39
- p.Gln1193Ter Single submitter
- p.Tyr431_Lys432delinsTer Single submitter spermatogenic failure 39
- p.Arg1903Cys No assertion criteria spermatogenic failure 39
- p.Cys1803Tyr No assertion criteria spermatogenic failure 39
- p.Gly2665fs No assertion criteria spermatogenic failure 39
Pathogenic/Likely pathogenic 1
- c.7752+2T>A Multiple submitters male infertility
Likely pathogenic 15
- c.7900+1G>T Single submitter spermatogenic failure 39
- p.Ala3918fs Single submitter DNAH17-related disorder
- p.Arg2941Ter Single submitter spermatogenic failure 39
- p.Arg772Ter Single submitter spermatogenic failure 39
- p.Asn4131fs Single submitter DNAH17-related disorder
- p.Asp2341fs Single submitter Male infertility with spermatogenesis disorder
- p.Glu1855fs Single submitter DNAH17-related disorder
- p.Glu957Ter Single submitter spermatogenic failure 39
- p.Ile1502fs Single submitter spermatogenic failure 39
- p.Lys728fs Single submitter spermatogenic failure 39
- p.Trp3931Ter Single submitter spermatogenic failure 39
- c.6818+1G>A No assertion criteria DNAH17-related disorder
- p.Arg2188Gln No assertion criteria Short stature
- p.Gly1256Arg No assertion criteria Short stature ⚠
- p.Lys3524fs No assertion criteria DNAH17-related disorder
Conflicting classifications of pathogenicity 12
- p.Ala1244Thr Single submitter Inborn genetic diseases ⚠
- p.Ala4215Gly Single submitter Inborn genetic diseases ⚠
- p.Arg2910Trp Single submitter Inborn genetic diseases ⚠
- p.Leu97Phe Single submitter Inborn genetic diseases ⚠
- p.Lys2743Arg Single submitter Inborn genetic diseases ⚠
- p.Phe2520Val Single submitter Inborn genetic diseases
- p.Pro535Thr Single submitter Inborn genetic diseases
- p.Thr1448Met Single submitter Inborn genetic diseases ⚠
- p.Thr3016Ala Single submitter Inborn genetic diseases
- p.Thr960Arg Single submitter Inborn genetic diseases ⚠
- p.Val1334Met Single submitter Inborn genetic diseases ⚠
- p.Val1600Met Single submitter Inborn genetic diseases ⚠
Benign 354
Showing the top 300 by review status; the full set is in the sitemap.
- c.10170+28G>A Multiple submitters
- c.10530-80G>A Multiple submitters
- c.10899+75T>C Multiple submitters
- c.11040+11C>A Multiple submitters
- c.11041-133C>T Multiple submitters
- c.11041-32C>T Multiple submitters
- c.11041-63G>A Multiple submitters
- c.11212-68C>A Multiple submitters
- c.11528+14C>T Multiple submitters
- c.11528+34C>T Multiple submitters
- c.11529-62C>T Multiple submitters
- c.11678-149G>A Multiple submitters
- c.1198-7C>T Multiple submitters
- c.12033+38T>C Multiple submitters
- c.12226-109A>G Multiple submitters
- c.12226-110C>T Multiple submitters
- c.12226-19C>T Multiple submitters
- c.12226-99T>A Multiple submitters
- c.12405+26C>T Multiple submitters
- c.12406-154A>G Multiple submitters
- c.12588+104G>C Multiple submitters
- c.12588+124T>C Multiple submitters
- c.12771+104T>C Multiple submitters
- c.12771+135T>G Multiple submitters
- c.12771+74C>G Multiple submitters
- c.12772-134T>C Multiple submitters
- c.1284+31C>G Multiple submitters
- c.12915+166A>G Multiple submitters
- c.12915+65A>G Multiple submitters
- c.12916-143G>C Multiple submitters
- c.12916-161T>C Multiple submitters
- c.12916-57G>T Multiple submitters
- c.13142-139C>T Multiple submitters
- c.13142-159C>T Multiple submitters
- c.13142-203A>T Multiple submitters
- c.1452+43A>G Multiple submitters
- c.1453-128G>A Multiple submitters
- c.1569+20G>A Multiple submitters
- c.1569+44T>C Multiple submitters
- c.1570-97A>G Multiple submitters
- c.1836-129T>C Multiple submitters
- c.2031+11G>A Multiple submitters
- c.2032-107C>T Multiple submitters
- c.2178+43T>C Multiple submitters
- c.2178+76T>C Multiple submitters
- c.2179-96C>T Multiple submitters
- c.2532+185C>T Multiple submitters
- c.2676+60A>G Multiple submitters
- c.2677-61C>T Multiple submitters
- c.2860-13C>T Multiple submitters
- c.2860-235T>C Multiple submitters
- c.2860-39A>G Multiple submitters
- c.3285-29G>C Multiple submitters
- c.3285-88C>T Multiple submitters
- c.345+24C>T Multiple submitters
- c.346-80C>A Multiple submitters
- c.3507+79A>C Multiple submitters
- c.3508-113C>T Multiple submitters
- c.3508-156T>C Multiple submitters
- c.3625-18T>C Multiple submitters
- c.3712-106G>T Multiple submitters
- c.3712-48A>G Multiple submitters
- c.3712-65G>A Multiple submitters
- c.3864+15C>T Multiple submitters
- c.3864+34G>A Multiple submitters
- c.4114-19C>T Multiple submitters
- c.4114-229T>C Multiple submitters
- c.4114-77A>G Multiple submitters
- c.4237-79A>G Multiple submitters
- c.4584+13C>T Multiple submitters
- c.4803+68A>G Multiple submitters
- c.4804-126G>A Multiple submitters
- c.4957-180A>G Multiple submitters
- c.4957-231A>G Multiple submitters
- c.5083-64T>C Multiple submitters
- c.5190+105G>A Multiple submitters
- c.5190+107C>G Multiple submitters
- c.5322+46A>G Multiple submitters
- c.5323-103C>A Multiple submitters
- c.5323-117G>A Multiple submitters
- c.539+20T>G Multiple submitters
- c.539+67C>A Multiple submitters
- c.540-46C>T Multiple submitters
- c.5483+152T>C Multiple submitters
- c.5483+166A>G Multiple submitters
- c.5484-122T>C Multiple submitters
- c.5484-208G>A Multiple submitters
- c.5484-34G>A Multiple submitters
- c.5640+204C>T Multiple submitters
- c.5640+26G>C Multiple submitters
- c.5640+37T>G Multiple submitters
- c.5640+42T>G Multiple submitters
- c.5640+57C>T Multiple submitters
- c.5640+93C>T Multiple submitters
- c.5641-165A>G Multiple submitters
- c.5745+40G>A Multiple submitters
- c.5904-15C>T Multiple submitters
- c.5904-32C>T Multiple submitters
- c.5904-79C>T Multiple submitters
- c.6042+50C>T Multiple submitters
- c.6042+63G>C Multiple submitters
- c.6408+35C>T Multiple submitters
- c.6409-126T>C Multiple submitters
- c.6409-47G>A Multiple submitters
- c.6669+49A>G Multiple submitters
- c.7102-41T>C Multiple submitters
- c.7275+45A>G Multiple submitters
- c.7276-27TCCCTCCCCT[3] Multiple submitters
- c.7483+19C>T Multiple submitters
- c.7483+24T>C Multiple submitters
- c.7484-174G>A Multiple submitters
- c.7484-65C>T Multiple submitters
- c.7649+176T>C Multiple submitters
- c.7650-110T>C Multiple submitters
- c.7650-47T>C Multiple submitters
- c.7752+124C>A Multiple submitters
- c.7752+22C>T Multiple submitters
- c.7753-153A>G Multiple submitters
- c.7753-95A>G Multiple submitters
- c.7753-97A>C Multiple submitters
- c.7900+98T>C Multiple submitters
- c.7992+40T>C Multiple submitters
- c.7993-14T>C Multiple submitters
- c.7993-40G>A Multiple submitters
- c.7993-99G>A Multiple submitters
- c.8154+80C>T Multiple submitters
- c.8319+72C>T Multiple submitters
- c.832+29G>T Multiple submitters
- c.8779-176C>T Multiple submitters
- c.8779-51C>T Multiple submitters
- c.8941-142G>A Multiple submitters
- c.9174+15C>T Multiple submitters
- c.9174+20T>C Multiple submitters
- c.9174+71C>G Multiple submitters
- c.9175-120C>G Multiple submitters
- c.918+17G>A Multiple submitters
- c.918+55T>A Multiple submitters
- c.9339+67A>C Multiple submitters
- c.9340-13A>G Multiple submitters
- c.9435+33G>A Multiple submitters
- c.9436-25G>A Multiple submitters
- c.9436-52C>T Multiple submitters
- c.9978-3T>C Multiple submitters
- c.-25-105T>G Multiple submitters
- c.*105C>T Multiple submitters
- p.Ala1101Gly Multiple submitters
- p.Ala1482= Multiple submitters
- p.Ala2877Asp Multiple submitters
- p.Arg1220= Multiple submitters
- p.Arg1220His Multiple submitters
- p.Arg1724Lys Multiple submitters
- p.Asp1522Tyr Multiple submitters
- p.Asp2835= Multiple submitters
- p.Asp3556= Multiple submitters
- p.Asp3597= Multiple submitters
- p.Cys3242= Multiple submitters
- p.Gly1157Arg Multiple submitters
- p.His3953Arg Multiple submitters
- p.His3953Tyr Multiple submitters
- p.Ile2325= Multiple submitters
- p.Ile4431Val Multiple submitters
- p.Ile792Val Multiple submitters
- p.Ile963Thr Multiple submitters
- p.Leu1166= Multiple submitters
- p.Leu1278= Multiple submitters
- p.Leu1985= Multiple submitters
- p.Leu2680= Multiple submitters
- p.Leu3052= Multiple submitters
- p.Leu72= Multiple submitters
- p.Leu849= Multiple submitters
- p.Lys590= Multiple submitters
- p.Met1742Ile Multiple submitters
- p.Met1986Val Multiple submitters
- p.Pro1029= Multiple submitters
- p.Pro1547Thr Multiple submitters
- p.Pro1845= Multiple submitters
- p.Pro3695= Multiple submitters
- p.Pro4209= Multiple submitters
- p.Pro4367= Multiple submitters
- p.Pro4368= Multiple submitters
- p.Ser2854Leu Multiple submitters
- p.Ser2969= Multiple submitters
- p.Thr1019Asn Multiple submitters
- p.Thr1511Ala Multiple submitters
- p.Thr1739Met Multiple submitters
- p.Thr2324= Multiple submitters
- p.Thr2432Met Multiple submitters
- p.Thr2474= Multiple submitters
- p.Thr3351= Multiple submitters
- p.Thr3483= Multiple submitters
- p.Thr3492= Multiple submitters
- p.Tyr4227= Multiple submitters
- p.Tyr4375= Multiple submitters
- p.Tyr563= Multiple submitters
- p.Val1914Met Multiple submitters
- p.Val2653= Multiple submitters
- p.Val3168Leu Multiple submitters
- c.10171-219dup Single submitter
- c.10406+4T>C Single submitter
- c.1044+194C>T Single submitter
- c.1044+210G>A Single submitter
- c.1044+223A>G Single submitter
- c.1045-178G>A Single submitter
- c.10735-220C>T Single submitter
- c.11041-74_11041-62del Single submitter
- c.11212-222T>C Single submitter
- c.11529-152G>A Single submitter
- c.12033+242_12033+243del Single submitter
- c.12225+78_12225+113del Single submitter
- c.12226-189A>G Single submitter
- c.12226-201C>T Single submitter
- c.12405+175_12405+176dup Single submitter
- c.12405+175_12405+177dup Single submitter
- c.12405+175dup Single submitter
- c.12405+191_12405+197del Single submitter
- c.12405+193_12405+197del Single submitter
- c.12589-169A>G Single submitter
- c.12915+218AG[3] Single submitter
- c.12916-191_12916-186del Single submitter
- c.12916-192_12916-186del Single submitter
- c.12916-197_12916-186del Single submitter
- c.13141+201dup Single submitter
- c.13141+62_13141+66del Single submitter
- c.1835+118A>G Single submitter
- c.1835+138A>T Single submitter
- c.2032-281TCCACCCATGAGGGTGATGTCA[5] Single submitter
- c.2178+68_2178+71del Single submitter
- c.2287+168dup Single submitter
- c.2287+182_2287+184del Single submitter
- c.2287+183_2287+184del Single submitter
- c.2287+184del Single submitter
- c.2287+190T>C Single submitter
- c.2859+108_2859+111dup Single submitter
- c.2859+110_2859+111insCTTC Single submitter
- c.2859+111_2859+112insTTTCT Single submitter
- c.3115-194G>C Single submitter
- c.3115-45del Single submitter
- c.3115-93_3115-83del Single submitter
- c.3284+126C>T Single submitter
- c.3285-125A>G Single submitter
- c.3508-236A>T Single submitter
- c.3508-237A>T Single submitter
- c.3508-239A>T Single submitter
- c.3711+74C>A Single submitter
- c.3712-140dup Single submitter
- c.3712-144A>G Single submitter
- c.3712-170G>A Single submitter
- c.3712-223T>G Single submitter
- c.3865-167C>T Single submitter
- c.4113+152C>T Single submitter
- c.4803+168C>T Single submitter
- c.4803+187G>A Single submitter
- c.4957-162_4957-159del Single submitter
- c.4957-163_4957-159del Single submitter
- c.4957-165_4957-159del Single submitter
- c.4957-202_4957-201del Single submitter
- c.4957-97_4957-95del Single submitter
- c.539+132G>A Single submitter
- c.540-156G>T Single submitter
- c.5641-207dup Single submitter
- c.5903+184C>T Single submitter
- c.5904-130C>T Single submitter
- c.6271-208del Single submitter
- c.6542-6C>T Single submitter
- c.6669+177A>G Single submitter
- c.6818+155_6818+158dup Single submitter
- c.6818+202A>G Single submitter
- c.6818+212A>G Single submitter
- c.7483+122A>G Single submitter
- c.7650-170A>G Single submitter
- c.7650-194A>G Single submitter
- c.7650-200C>T Single submitter
- c.7752+228T>A Single submitter
- c.7993-161C>T Single submitter
- c.7993-171T>G Single submitter
- c.8154+192C>T Single submitter
- c.8940+181dup Single submitter
- c.8941-175T>C Single submitter
- c.918+119C>T Single submitter
- c.918+47CTTTT[3] Single submitter
- c.918+58_918+59dup Single submitter
- p.Ala2154= Single submitter
- p.Ser1559Arg Single submitter
- p.Val3356Ile Single submitter
- c.12915+7G>T No assertion criteria DNAH17-related disorder
- c.5191-10T>C No assertion criteria DNAH17-related disorder
- c.833-7C>T No assertion criteria DNAH17-related disorder
- c.8512-6G>A No assertion criteria DNAH17-related disorder
- c.9174+10G>T No assertion criteria DNAH17-related disorder
- p.Ala1138= No assertion criteria DNAH17-related disorder
- p.Ala1332Val No assertion criteria DNAH17-related disorder
- p.Ala1849Thr No assertion criteria DNAH17-related disorder
- p.Ala1954= No assertion criteria DNAH17-related disorder
- p.Ala2267= No assertion criteria DNAH17-related disorder
- p.Ala2631= No assertion criteria DNAH17-related disorder
- p.Ala3237= No assertion criteria DNAH17-related disorder
- p.Ala3314= No assertion criteria DNAH17-related disorder
- p.Arg1274Gln No assertion criteria DNAH17-related disorder
- p.Arg2084Gln No assertion criteria DNAH17-related disorder
- p.Arg2548= No assertion criteria DNAH17-related disorder
Likely benign 168
- p.Ala332Val Multiple submitters Inborn genetic diseases
- p.Arg4285Gln Multiple submitters
- p.Glu85Asp Multiple submitters Inborn genetic diseases
- p.Gly3893= Multiple submitters spermatogenic failure 39
- p.Val2127Ile Multiple submitters Inborn genetic diseases
- c.10529+8_10529+10del Single submitter
- c.11806-5T>C Single submitter
- c.2392-7C>T Single submitter
- c.3508-5C>T Single submitter
- c.5322+8C>T Single submitter
- c.6270+4G>A Single submitter
- p.Ala1957Thr Single submitter Inborn genetic diseases
- p.Ala3287= Single submitter
- p.Ala3606= Single submitter
- p.Ala3655= Single submitter
- p.Ala376Ser Single submitter Inborn genetic diseases
- p.Ala4072= Single submitter
- p.Ala4199= Single submitter
- p.Ala4455= Single submitter
- p.Ala586= Single submitter
- p.Arg1086Gln Single submitter Inborn genetic diseases
- p.Arg1619Gln Single submitter
- p.Arg4432= Single submitter
- p.Arg944Trp Single submitter ⚠
- p.Arg95Gln Single submitter Inborn genetic diseases
- p.Asn933= Single submitter Inborn genetic diseases
- p.Asn975Ser Single submitter Inborn genetic diseases
- p.Asp1624Glu Single submitter Inborn genetic diseases
- p.Asp2955Asn Single submitter Inborn genetic diseases
- p.Asp388Asn Single submitter
- p.Asp553= Single submitter Inborn genetic diseases
- p.Gln50Leu Single submitter Inborn genetic diseases
- p.Glu1221Lys Single submitter Inborn genetic diseases
- p.Glu1307= Single submitter
- p.Gly2466= Single submitter
- p.His1174Gln Single submitter Inborn genetic diseases
- p.His4034= Single submitter Inborn genetic diseases
- p.His671= Single submitter
- p.His671Arg Single submitter Inborn genetic diseases
- p.Ile1248Val Single submitter Inborn genetic diseases
- p.Ile1400= Single submitter
- p.Ile2193= Single submitter
- p.Ile2202Val Single submitter Inborn genetic diseases
- p.Ile2561Val Single submitter Inborn genetic diseases
- p.Ile3630= Single submitter
- p.Leu315= Single submitter
- p.Leu4006= Single submitter
- p.Leu453= Single submitter
- p.Leu593= Single submitter
- p.Leu993= Single submitter
- p.Lys3524Asn Single submitter Inborn genetic diseases
- p.Met782Ile Single submitter Inborn genetic diseases
- p.Phe4314Leu Single submitter ⚠
- p.Phe758= Single submitter
- p.Pro1145Leu Single submitter
- p.Pro1818= Single submitter
- p.Pro2273= Single submitter Inborn genetic diseases
- p.Pro2961= Single submitter
- p.Pro2980Gln Single submitter Inborn genetic diseases
- p.Pro3881= Single submitter
- p.Ser1506= Single submitter
- p.Ser1836= Single submitter
- p.Ser2140= Single submitter
- p.Ser3607= Single submitter
- p.Ser374= Single submitter
- p.Ser4248= Single submitter
- p.Ser516Asn Single submitter Inborn genetic diseases
- p.Ser546= Single submitter
- p.Ser986= Single submitter
- p.Thr1139= Single submitter
- p.Thr1481Met Single submitter Inborn genetic diseases
- p.Thr1544= Single submitter
- p.Thr1739= Single submitter
- p.Thr1826= Single submitter
- p.Thr2144= Single submitter
- p.Thr2609= Single submitter
- p.Thr2640= Single submitter
- p.Thr2748= Single submitter
- p.Thr3036= Single submitter
- p.Thr3036Met Single submitter Inborn genetic diseases
- p.Thr3483Ile Single submitter Inborn genetic diseases
- p.Thr4264= Single submitter
- p.Thr4319= Single submitter
- p.Thr995Met Single submitter Inborn genetic diseases
- p.Tyr2017= Single submitter
- p.Tyr4297= Single submitter
- p.Tyr829= Single submitter
- p.Val1286= Single submitter
- p.Val19Ile Single submitter Inborn genetic diseases
- p.Val2518Ile Single submitter Inborn genetic diseases
- p.Val3249Ile Single submitter Inborn genetic diseases
- p.Val3350Ile Single submitter Inborn genetic diseases
- p.Val3674Ile Single submitter Inborn genetic diseases
- p.Val37Met Single submitter Inborn genetic diseases
- p.Val4354= Single submitter
- p.Val609Ile Single submitter Inborn genetic diseases
- c.10735-5T>G No assertion criteria DNAH17-related disorder
- c.11212-7C>T No assertion criteria DNAH17-related disorder
- c.11334+4C>T No assertion criteria DNAH17-related disorder
- c.11678-7_11678-3del No assertion criteria DNAH17-related disorder
- c.11805+5G>A No assertion criteria DNAH17-related disorder
- c.1452+10C>T No assertion criteria DNAH17-related disorder
- c.1836-10C>G No assertion criteria DNAH17-related disorder
- c.2287+4C>T No assertion criteria DNAH17-related disorder
- c.2288-10T>G No assertion criteria DNAH17-related disorder
- c.2533-5T>C No assertion criteria DNAH17-related disorder
- c.3114+5G>A No assertion criteria DNAH17-related disorder
- c.4114-8dup No assertion criteria DNAH17-related disorder
- c.5323-9A>T No assertion criteria DNAH17-related disorder
- c.5640+6C>T No assertion criteria DNAH17-related disorder
- c.6669+4C>T No assertion criteria DNAH17-related disorder
- c.9653+8G>A No assertion criteria DNAH17-related disorder
- c.9978-10C>A No assertion criteria DNAH17-related disorder
- p.Ala1913= No assertion criteria DNAH17-related disorder
- p.Ala3564= No assertion criteria DNAH17-related disorder
- p.Ala4294= No assertion criteria DNAH17-related disorder
- p.Ala542= No assertion criteria DNAH17-related disorder
- p.Ala59= No assertion criteria DNAH17-related disorder
- p.Ala795= No assertion criteria DNAH17-related disorder
- p.Ala823= No assertion criteria DNAH17-related disorder
- p.Arg4395Trp No assertion criteria DNAH17-related disorder
- p.Arg807= No assertion criteria DNAH17-related disorder
- p.Arg989= No assertion criteria DNAH17-related disorder
- p.Asn1746= No assertion criteria DNAH17-related disorder
- p.Asn3746= No assertion criteria DNAH17-related disorder
- p.Asn4056= No assertion criteria DNAH17-related disorder
- p.Asp1792= No assertion criteria DNAH17-related disorder
- p.Cys2164= No assertion criteria DNAH17-related disorder
- p.Cys2784= No assertion criteria DNAH17-related disorder
- p.Gln1239= No assertion criteria DNAH17-related disorder
- p.Glu1037Gln No assertion criteria DNAH17-related disorder
- p.Glu3636= No assertion criteria DNAH17-related disorder
- p.Glu4355= No assertion criteria DNAH17-related disorder
- p.Glu540Lys No assertion criteria DNAH17-related disorder
- p.Ile110= No assertion criteria DNAH17-related disorder
- p.Ile181= No assertion criteria DNAH17-related disorder
- p.Ile335= No assertion criteria DNAH17-related disorder
- p.Ile839= No assertion criteria DNAH17-related disorder
- p.Leu1006= No assertion criteria DNAH17-related disorder
- p.Leu2157= No assertion criteria DNAH17-related disorder
- p.Leu2294= No assertion criteria DNAH17-related disorder
- p.Leu2478= No assertion criteria DNAH17-related disorder
- p.Leu3006= No assertion criteria DNAH17-related disorder
- p.Leu4070= No assertion criteria DNAH17-related disorder
- p.Phe228= No assertion criteria DNAH17-related disorder
- p.Phe2989= No assertion criteria DNAH17-related disorder
- p.Pro131= No assertion criteria DNAH17-related disorder
- p.Pro1432= No assertion criteria DNAH17-related disorder
- p.Pro1848= No assertion criteria DNAH17-related disorder
- p.Pro2065= No assertion criteria DNAH17-related disorder
- p.Pro3653= No assertion criteria DNAH17-related disorder
- p.Pro403= No assertion criteria DNAH17-related disorder
- p.Ser1255= No assertion criteria DNAH17-related disorder
- p.Ser3156= No assertion criteria DNAH17-related disorder
- p.Ser3806= No assertion criteria DNAH17-related disorder
- p.Ser4270= No assertion criteria DNAH17-related disorder
- p.Thr1339= No assertion criteria DNAH17-related disorder
- p.Thr1706= No assertion criteria DNAH17-related disorder
- p.Thr1892= No assertion criteria DNAH17-related disorder
- p.Thr2337= No assertion criteria DNAH17-related disorder
- p.Thr3236= No assertion criteria DNAH17-related disorder
- p.Thr3899= No assertion criteria DNAH17-related disorder
- p.Thr911= No assertion criteria DNAH17-related disorder
- p.Tyr1869= No assertion criteria DNAH17-related disorder
- p.Tyr98= No assertion criteria DNAH17-related disorder
- p.Val1602= No assertion criteria DNAH17-related disorder
- p.Val1974= No assertion criteria DNAH17-related disorder
- p.Val3320Leu No assertion criteria DNAH17-related disorder
Uncertain significance 955
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala1014Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg1217Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg2941Gln Multiple submitters Inborn genetic diseases
- p.Arg4050Gln Multiple submitters Inborn genetic diseases
- p.Arg4101Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg4246His Multiple submitters Inborn genetic diseases ⚠
- p.Arg4303Cys Multiple submitters Inborn genetic diseases
- p.Asn2661Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gln4011Glu Multiple submitters Inborn genetic diseases ⚠
- p.Glu2009Gly Multiple submitters Inborn genetic diseases
- p.Glu2382Gln Multiple submitters spermatogenic failure 39 ⚠
- p.Glu3698Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu4194Lys Multiple submitters Inborn genetic diseases
- p.Gly2197Ser Multiple submitters Inborn genetic diseases
- p.Gly2596Val Multiple submitters Inborn genetic diseases
- p.Gly3490Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ile4204Val Multiple submitters Inborn genetic diseases ⚠
- p.Met2048Lys Multiple submitters Inborn genetic diseases
- p.Pro331Ser Multiple submitters Inborn genetic diseases
- p.Thr1705Met Multiple submitters spermatogenic failure 39
- p.Thr2320Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr3735Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr386Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr4333Met Multiple submitters Inborn genetic diseases
- c.3507+5G>A Single submitter
- c.9340-1G>C Single submitter spermatogenic failure 39
- p.Ala1097Val Single submitter Inborn genetic diseases ⚠
- p.Ala1106Thr Single submitter Inborn genetic diseases ⚠
- p.Ala111Glu Single submitter Inborn genetic diseases ⚠
- p.Ala111Thr Single submitter Inborn genetic diseases ⚠
- p.Ala111Val Single submitter Inborn genetic diseases ⚠
- p.Ala1176Glu Single submitter Inborn genetic diseases ⚠
- p.Ala1194Val Single submitter Inborn genetic diseases ⚠
- p.Ala1747Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1844Val Single submitter Inborn genetic diseases
- p.Ala1929Gly Single submitter Inborn genetic diseases ⚠
- p.Ala2050Val Single submitter Inborn genetic diseases
- p.Ala2130Val Single submitter spermatogenic failure 39
- p.Ala213Val Single submitter Inborn genetic diseases ⚠
- p.Ala215Val Single submitter Inborn genetic diseases ⚠
- p.Ala2289Pro Single submitter Inborn genetic diseases ⚠
- p.Ala2362Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2631Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2631Val Single submitter Inborn genetic diseases ⚠
- p.Ala2634Asp Single submitter Inborn genetic diseases ⚠
- p.Ala2634Val Single submitter Inborn genetic diseases ⚠
- p.Ala2711Gly Single submitter Inborn genetic diseases ⚠
- p.Ala2751Ser Single submitter Inborn genetic diseases ⚠
- p.Ala2781Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2841Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2848Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2953Asp Single submitter Inborn genetic diseases
- p.Ala2964Thr Single submitter Inborn genetic diseases
- p.Ala3067Glu Single submitter Inborn genetic diseases
- p.Ala3067Val Single submitter Inborn genetic diseases
- p.Ala3101Asp Single submitter Inborn genetic diseases ⚠
- p.Ala3121Ser Single submitter Inborn genetic diseases ⚠
- p.Ala3127Asp Single submitter Inborn genetic diseases
- p.Ala3132Asp Single submitter Inborn genetic diseases ⚠
- p.Ala3135Val Single submitter Inborn genetic diseases
- p.Ala3166Thr Single submitter Inborn genetic diseases
- p.Ala3173Val Single submitter Inborn genetic diseases
- p.Ala3216Gly Single submitter Inborn genetic diseases
- p.Ala3238Thr Single submitter Inborn genetic diseases
- p.Ala323Val Single submitter Inborn genetic diseases ⚠
- p.Ala3259= Single submitter spermatogenic failure 39
- p.Ala3264Val Single submitter Inborn genetic diseases
- p.Ala3270Gly Single submitter Inborn genetic diseases
- p.Ala3273Thr Single submitter Inborn genetic diseases ⚠
- p.Ala3291Thr Single submitter Inborn genetic diseases
- p.Ala3314Val Single submitter Inborn genetic diseases
- p.Ala33Thr Single submitter Inborn genetic diseases ⚠
- p.Ala3409Thr Single submitter Inborn genetic diseases ⚠
- p.Ala3444Thr Single submitter Inborn genetic diseases ⚠
- p.Ala3444Val Single submitter Inborn genetic diseases
- p.Ala3565Thr Single submitter Inborn genetic diseases ⚠
- p.Ala3606Val Single submitter Inborn genetic diseases
- p.Ala3647Val Single submitter Inborn genetic diseases
- p.Ala3689Pro Single submitter Inborn genetic diseases
- p.Ala3732Val Single submitter Inborn genetic diseases ⚠
- p.Ala3779Gly Single submitter Inborn genetic diseases ⚠
- p.Ala3779Val Single submitter Inborn genetic diseases ⚠
- p.Ala3823Thr Single submitter Inborn genetic diseases ⚠
- p.Ala3921Ser Single submitter Inborn genetic diseases ⚠
- p.Ala3921Thr Single submitter Inborn genetic diseases ⚠
- p.Ala3968Thr Single submitter Inborn genetic diseases ⚠
- p.Ala3968Val Single submitter Inborn genetic diseases
- p.Ala4000Thr Single submitter Inborn genetic diseases
- p.Ala4005Val Single submitter Inborn genetic diseases
- p.Ala4029Thr Single submitter Inborn genetic diseases ⚠
- p.Ala4038Val Single submitter Inborn genetic diseases ⚠
- p.Ala4108Val Single submitter Inborn genetic diseases ⚠
- p.Ala4187Pro Single submitter Inborn genetic diseases ⚠
- p.Ala4221Pro Single submitter Inborn genetic diseases ⚠
- p.Ala4222Val Single submitter Inborn genetic diseases ⚠
- p.Ala4294Gly Single submitter Inborn genetic diseases ⚠
- p.Ala4294Val Single submitter Inborn genetic diseases ⚠
- p.Ala4298Thr Single submitter Inborn genetic diseases ⚠
- p.Ala4366Thr Single submitter Inborn genetic diseases ⚠
- p.Ala4392Thr Single submitter Inborn genetic diseases ⚠
- p.Ala4394Val Single submitter Inborn genetic diseases
- p.Ala4449Glu Single submitter Inborn genetic diseases ⚠
- p.Ala4449Gly Single submitter Inborn genetic diseases ⚠
- p.Ala4449Val Single submitter Inborn genetic diseases ⚠
- p.Ala522Thr Single submitter Inborn genetic diseases ⚠
- p.Ala568Val Single submitter Inborn genetic diseases ⚠
- p.Ala58Val Single submitter Inborn genetic diseases ⚠
- p.Ala59Ser Single submitter Inborn genetic diseases ⚠
- p.Ala619Val Single submitter Inborn genetic diseases ⚠
- p.Ala646Val Single submitter Inborn genetic diseases ⚠
- p.Ala665Thr Single submitter Inborn genetic diseases ⚠
- p.Ala677Val Single submitter Inborn genetic diseases ⚠
- p.Ala700Glu Single submitter Inborn genetic diseases
- p.Ala700Val Single submitter Inborn genetic diseases
- p.Ala733Ser Single submitter Inborn genetic diseases ⚠
- p.Ala814Gly Single submitter Inborn genetic diseases ⚠
- p.Ala814Val Single submitter Inborn genetic diseases ⚠
- p.Ala823Val Single submitter Inborn genetic diseases ⚠
- p.Ala841Pro Single submitter Inborn genetic diseases ⚠
- p.Ala844Val Single submitter Inborn genetic diseases ⚠
- p.Arg1067Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1078Gln Single submitter ⚠
- p.Arg1078Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1079His Single submitter Inborn genetic diseases ⚠
- p.Arg1201Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1202Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1274Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1277His Single submitter Inborn genetic diseases ⚠
- p.Arg1348His Single submitter Inborn genetic diseases
- p.Arg1348Ser Single submitter Inborn genetic diseases
- p.Arg1359Gln Single submitter Inborn genetic diseases
- p.Arg1361Cys Single submitter Inborn genetic diseases
- p.Arg1361His Single submitter Inborn genetic diseases
- p.Arg1398Cys Single submitter Inborn genetic diseases
- p.Arg1398His Single submitter Inborn genetic diseases ⚠
- p.Arg1433Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1494Gln Single submitter Inborn genetic diseases
- p.Arg1519His Single submitter Inborn genetic diseases ⚠
- p.Arg1659Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1659Gly Single submitter Inborn genetic diseases
- p.Arg1764Gln Single submitter Inborn genetic diseases
- p.Arg1790His Single submitter Inborn genetic diseases ⚠
- p.Arg1796Gln Single submitter Inborn genetic diseases ⚠
- p.Arg180Gly Single submitter Inborn genetic diseases ⚠
- p.Arg1994Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1998Gly Single submitter Inborn genetic diseases ⚠
- p.Arg2041Gln Single submitter Inborn genetic diseases ⚠
- p.Arg2049Gln Single submitter Inborn genetic diseases
- p.Arg2049Trp Single submitter Inborn genetic diseases
- p.Arg2082Gln Single submitter Inborn genetic diseases
- p.Arg2082Gly Single submitter Inborn genetic diseases ⚠
- p.Arg2082Leu Single submitter Inborn genetic diseases
- p.Arg2082Pro Single submitter Inborn genetic diseases ⚠
- p.Arg2084Pro Single submitter Inborn genetic diseases
- p.Arg2084Trp Single submitter Inborn genetic diseases ⚠
- p.Arg2150Lys Single submitter Inborn genetic diseases ⚠
- p.Arg2232Gln Single submitter Inborn genetic diseases ⚠
- p.Arg2232Trp Single submitter Inborn genetic diseases ⚠
- p.Arg2237Cys Single submitter Inborn genetic diseases
- p.Arg2237His Single submitter Inborn genetic diseases
- p.Arg2282Cys Single submitter Inborn genetic diseases
- p.Arg2282Leu Single submitter Inborn genetic diseases ⚠
- p.Arg2307Ser Single submitter Inborn genetic diseases ⚠
- p.Arg234Gln Single submitter Inborn genetic diseases ⚠
- p.Arg2436Cys Single submitter Inborn genetic diseases
- p.Arg2682Cys Single submitter Inborn genetic diseases
- p.Arg2788His Single submitter Inborn genetic diseases
- p.Arg2794Gln Single submitter Inborn genetic diseases ⚠
- p.Arg2812Cys Single submitter Inborn genetic diseases
- p.Arg2939Trp Single submitter Inborn genetic diseases
- p.Arg2971His Single submitter Inborn genetic diseases ⚠
- p.Arg3003Thr Single submitter Inborn genetic diseases ⚠
- p.Arg3035Thr Single submitter Inborn genetic diseases ⚠
- p.Arg3044Ser Single submitter
- p.Arg3232Cys Single submitter Inborn genetic diseases
- p.Arg3250His Single submitter Inborn genetic diseases
- p.Arg3319Gly Single submitter Inborn genetic diseases ⚠
- p.Arg3319Thr Single submitter Inborn genetic diseases ⚠
- p.Arg3337Cys Single submitter Inborn genetic diseases ⚠
- p.Arg3374Trp Single submitter Inborn genetic diseases ⚠
- p.Arg3437Gln Single submitter Inborn genetic diseases
- p.Arg3464Cys Single submitter Inborn genetic diseases
- p.Arg3526Cys Single submitter Inborn genetic diseases
- p.Arg3571Cys Single submitter Inborn genetic diseases
- p.Arg3571Leu Single submitter
- p.Arg3602His Single submitter Inborn genetic diseases ⚠
- p.Arg3652His Single submitter Inborn genetic diseases
- p.Arg3702Gln Single submitter Inborn genetic diseases
- p.Arg3720Gln Single submitter Inborn genetic diseases
- p.Arg3831Cys Single submitter Inborn genetic diseases
- p.Arg3831Pro Single submitter Inborn genetic diseases
- p.Arg3837His Single submitter Inborn genetic diseases
- p.Arg3942Gly Single submitter Inborn genetic diseases ⚠
- p.Arg3942Pro Single submitter Inborn genetic diseases ⚠
- p.Arg3942Trp Single submitter Inborn genetic diseases ⚠
- p.Arg4041His Single submitter Inborn genetic diseases
- p.Arg4050Trp Single submitter Inborn genetic diseases
- p.Arg4082Cys Single submitter Inborn genetic diseases
- p.Arg4082His Single submitter Inborn genetic diseases
- p.Arg4100His Single submitter Inborn genetic diseases
- p.Arg4104Gly Single submitter Inborn genetic diseases ⚠
- p.Arg4173Cys Single submitter Inborn genetic diseases
- p.Arg4173His Single submitter Inborn genetic diseases ⚠
- p.Arg4193Cys Single submitter Inborn genetic diseases ⚠
- p.Arg4193His Single submitter Inborn genetic diseases ⚠
- p.Arg4193Leu Single submitter Inborn genetic diseases ⚠
- p.Arg4237Ser Single submitter Inborn genetic diseases
- p.Arg4247His Single submitter Inborn genetic diseases ⚠
- p.Arg4285Trp Single submitter Inborn genetic diseases ⚠
- p.Arg4303His Single submitter Inborn genetic diseases
- p.Arg4303Ser Single submitter Inborn genetic diseases
- p.Arg4361Gln Single submitter Inborn genetic diseases ⚠
- p.Arg4383Cys Single submitter Inborn genetic diseases ⚠
- p.Arg4383His Single submitter Inborn genetic diseases ⚠
- p.Arg4395Gln Single submitter Inborn genetic diseases ⚠
- p.Arg4415Cys Single submitter Inborn genetic diseases ⚠
- p.Arg4430Cys Single submitter Inborn genetic diseases ⚠
- p.Arg4430His Single submitter Inborn genetic diseases ⚠
- p.Arg4432Pro Single submitter Inborn genetic diseases
- p.Arg449Cys Single submitter Inborn genetic diseases
- p.Arg488Cys Single submitter Inborn genetic diseases ⚠
- p.Arg502Gly Single submitter Inborn genetic diseases ⚠
- p.Arg534Trp Single submitter Inborn genetic diseases
- p.Arg663Gln Single submitter Inborn genetic diseases
- p.Arg663Trp Single submitter Inborn genetic diseases
- p.Arg711Trp Single submitter Inborn genetic diseases ⚠
- p.Arg781Ser Single submitter Inborn genetic diseases ⚠
- p.Arg828His Single submitter Inborn genetic diseases ⚠
- p.Arg879His Single submitter Inborn genetic diseases ⚠
- p.Arg8Thr Single submitter Inborn genetic diseases ⚠
- p.Arg902Cys Single submitter Inborn genetic diseases ⚠
- p.Arg902His Single submitter Inborn genetic diseases ⚠
- p.Arg922Cys Single submitter Inborn genetic diseases ⚠
- p.Arg922Ser Single submitter Inborn genetic diseases ⚠
- p.Arg95Trp Single submitter Inborn genetic diseases ⚠
- p.Arg989Lys Single submitter Inborn genetic diseases ⚠
- p.Asn1230Thr Single submitter Inborn genetic diseases ⚠
- p.Asn1539Lys Single submitter Inborn genetic diseases ⚠
- p.Asn1551Lys Single submitter Inborn genetic diseases ⚠
- p.Asn1595Lys Single submitter Inborn genetic diseases ⚠
- p.Asn2055Ser Single submitter Inborn genetic diseases
- p.Asn2087Thr Single submitter Inborn genetic diseases ⚠
- p.Asn2142Lys Single submitter Inborn genetic diseases ⚠
- p.Asn2142Ser Single submitter Inborn genetic diseases ⚠
- p.Asn2456Asp Single submitter Inborn genetic diseases ⚠
- p.Asn2605Lys Single submitter Inborn genetic diseases ⚠
- p.Asn2661Thr Single submitter Inborn genetic diseases ⚠
- p.Asn2754Lys Single submitter Inborn genetic diseases ⚠
- p.Asn2892Ser Single submitter Inborn genetic diseases ⚠
- p.Asn3077Lys Single submitter Inborn genetic diseases ⚠
- p.Asn3077Ser Single submitter Inborn genetic diseases
- p.Asn3284Lys Single submitter Inborn genetic diseases ⚠
- p.Asn3290Tyr Single submitter Inborn genetic diseases
- p.Asn36Lys Single submitter Inborn genetic diseases ⚠
- p.Asn3705Ile Single submitter Inborn genetic diseases
- p.Asn3705Ser Single submitter Inborn genetic diseases
- p.Asn3902Asp Single submitter Inborn genetic diseases ⚠
- p.Asn3907Asp Single submitter Inborn genetic diseases
- p.Asn3992Ser Single submitter Inborn genetic diseases ⚠
- p.Asn4056Lys Single submitter ⚠
- p.Asn4131Ser Single submitter Inborn genetic diseases ⚠
- p.Asn451Lys Single submitter Inborn genetic diseases ⚠
- p.Asn485Lys Single submitter Inborn genetic diseases ⚠
- p.Asn57Ser Single submitter Inborn genetic diseases ⚠
- p.Asn668Ser Single submitter Inborn genetic diseases ⚠
- p.Asn788Lys Single submitter Inborn genetic diseases ⚠
- p.Asn826Lys Single submitter Inborn genetic diseases ⚠
- p.Asn888Ser Single submitter Inborn genetic diseases ⚠
- p.Asn975His Single submitter Inborn genetic diseases ⚠
- p.Asn997Ser Single submitter Inborn genetic diseases ⚠
- p.Asp100Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1065Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1118Gly Single submitter Inborn genetic diseases
- p.Asp1118His Single submitter Inborn genetic diseases
- p.Asp1140Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1303Gly Single submitter Inborn genetic diseases
- p.Asp1384Gly Single submitter Inborn genetic diseases
- p.Asp1611His Single submitter Inborn genetic diseases
- p.Asp1611Tyr Single submitter Inborn genetic diseases
- p.Asp1621Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1644His Single submitter Inborn genetic diseases ⚠
- p.Asp1648Glu Single submitter Inborn genetic diseases ⚠
- p.Asp1725Gly Single submitter Inborn genetic diseases
- p.Asp172Gly Single submitter Inborn genetic diseases ⚠
- p.Asp1749His Single submitter Inborn genetic diseases ⚠
- p.Asp1804Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1827Glu Single submitter Inborn genetic diseases ⚠
- p.Asp1976Asn Single submitter Inborn genetic diseases ⚠
- p.Asp2038Asn Single submitter Inborn genetic diseases ⚠
- p.Asp2063Asn Single submitter Inborn genetic diseases
- p.Asp2341Asn Single submitter Inborn genetic diseases ⚠
- p.Asp2341Glu Single submitter Inborn genetic diseases ⚠
- p.Asp2411Glu Single submitter Inborn genetic diseases ⚠
- p.Asp2467Val Single submitter Inborn genetic diseases ⚠
- p.Asp2546Tyr Single submitter Inborn genetic diseases
- p.Asp2701Tyr Single submitter Inborn genetic diseases
- p.Asp2741Asn Single submitter Inborn genetic diseases ⚠
- p.Asp2749Asn Single submitter Inborn genetic diseases ⚠
- p.Asp2821Glu Single submitter Inborn genetic diseases ⚠
- p.Asp2835Asn Single submitter Inborn genetic diseases