DNAH2 — 791 ClinVar variants
All ClinVar germline DNAH2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 422 flagged for review →
5 Pathogenic · 7 Likely pathogenic · 3 Conflicting · 55 Benign · 4 Benign/Likely benign · 97 Likely benign · 620 Uncertain significance
Full DNAH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 422
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
DNAH2 p.Arg3100Trp
Pathogenic
No assertion criteria
spermatogenic failure 45
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DNAH2 p.Pro1605Ser
Conflicting
Single submitter
Inborn genetic diseases
-
DNAH2 p.Pro815Ser
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 369
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 369
-
DNAH2 p.Ala1036Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAH2 p.Arg1533Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAH2 p.Arg3759His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAH2 p.Pro3819Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAH2 p.Ala1058Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala1191Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala1195Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala1275Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala1415Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala1421Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala156Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala1670Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala185Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala198Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala2107Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala2197Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala2197Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala2212Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala2426Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala2489Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala3002Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala3174Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala322Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala3353Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala3399Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala3431Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala3731Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala3782Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala3878Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala4080Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala4120Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala4159Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala568Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala626Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala626Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala687Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala687Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala718Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala722Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala786Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala90Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg1046Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg10Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg1190Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg1190Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg1197Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg1307Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg1417His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg1486Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg1622Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg1626Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg1673Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg1673Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg173Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg1924His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg1978Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg1978His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg1991Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg2045Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg2095His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg24Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg24Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg2514His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg2689His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg2806Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg2806His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg2997Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg3008Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg330Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg330His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg3426Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAH2 p.Arg3524Gln Uncertain significance Single submitter
-
DNAH2 p.Arg3658Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg3681His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg3788Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg3788Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg3815Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg3834Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg3863His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg3882Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg4077Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg422Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg4270Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg4343Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg4366Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg442His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg556Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg556His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg58Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg613Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg620Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg664Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg669His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg731Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg731His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg765Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg770Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg785Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg83Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg917Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg917Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg917Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg921Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asn1121Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asn2302Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asn2410Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asn2452Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asn2911Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asn2944Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asn3456Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asn3622Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asn3767Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asn4063Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asp1084Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asp1118His
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAH2 p.Asp1485His Uncertain significance Single submitter
-
DNAH2 p.Asp2171Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asp2594Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asp2671Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asp2780Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asp3355Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asp3917Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asp393Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asp403Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asp4089Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asp4305Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asp4318Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asp4327Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asp456Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asp592Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asp774Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Cys411Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Gln1098Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Gln135Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Gln1369Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Gln137His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Gln2601Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Gln2861His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Gln3022Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Gln3571Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Gln4139His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Gln4148Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Gln4299His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Gln789Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Gln978Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Glu1070Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Glu1115Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Glu1246Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Glu1284Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Glu1326Asp
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 50
The independent predictors disagree with each other — read with care.
-
DNAH2 p.Ile4043Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAH2 p.Ala3669Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala399Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ala4243Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg1448Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg1528Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg1744Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg1912Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg1924Cys
Likely pathogenic
Single submitter
spermatogenic failure 45
-
DNAH2 p.Arg2195His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg2617Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg2755Trp
Uncertain significance
Single submitter
spermatogenic failure 45
-
DNAH2 p.Arg3658His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg3676Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg3759Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg400His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asn1492Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Asn839His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Gly4333Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Gly853Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ile937Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Leu3684Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Lys3076Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Lys3252Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Lys3290Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Lys3580Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Lys4376Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Lys745Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Met2445Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Met3860Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Met4423Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Phe3012Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Phe412Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Phe519Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Phe810Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Phe987Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Pro1065Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Pro2236Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ser1023Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ser2376Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Ser735Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Thr2047Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Trp4330Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAH2 p.Tyr1385Cys Likely benign Single submitter
-
DNAH2 p.Val2181Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Val3021Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Val3620Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAH2 p.Arg3365Trp
Likely benign
No assertion criteria
DNAH2-related disorder
-
DNAH2 p.Phe4232Leu
Benign
No assertion criteria
DNAH2-related disorder
-
DNAH2 p.Ser3835Pro
Pathogenic
No assertion criteria
spermatogenic failure 45
All DNAH2 variants
Pathogenic 5
- p.Arg3882Ter Single submitter spermatogenic failure 45
- p.Arg3100Trp No assertion criteria spermatogenic failure 45 ⚠
- p.Arg3834Ter No assertion criteria spermatogenic failure 45
- p.Ser2320Arg No assertion criteria spermatogenic failure 45
- p.Ser3835Pro No assertion criteria spermatogenic failure 45 ⚠
Likely pathogenic 7
- c.12460-2A>G Single submitter spermatogenic failure 45
- c.7145+1G>A Single submitter spermatogenic failure 45
- p.Arg1924Cys Single submitter spermatogenic failure 45 ⚠
- p.Gln1076Ter Single submitter spermatogenic failure 45
- p.Lys1273Ter Single submitter spermatogenic failure 45
- p.Trp2902Ter Single submitter spermatogenic failure 45
- p.Tyr1523Ter Single submitter spermatogenic failure 45
Conflicting classifications of pathogenicity 3
- c.1904+146del Single submitter spermatogenic failure 45
- p.Pro1605Ser Single submitter Inborn genetic diseases ⚠
- p.Pro815Ser Single submitter Inborn genetic diseases ⚠
Benign 55
- c.10169+3G>A Multiple submitters
- c.11478+3C>G Multiple submitters
- c.7950-6C>T Multiple submitters
- c.8972+9G>C Multiple submitters
- p.Ala1670= Multiple submitters
- p.Asp1239Glu Multiple submitters
- p.Asp2210Asn Multiple submitters
- p.Cys1829Gly Multiple submitters
- p.His1265= Multiple submitters
- p.His98= Multiple submitters
- p.Ile1382= Multiple submitters
- p.Ile1657Val Multiple submitters
- p.Ile4062Leu Multiple submitters
- p.Leu1203Ile Multiple submitters
- p.Leu4101Phe Multiple submitters
- p.Leu424= Multiple submitters
- p.Met961Thr Multiple submitters
- p.Pro1384= Multiple submitters
- p.Thr3600Ile Multiple submitters
- p.Tyr2281= Multiple submitters
- p.Val1755= Multiple submitters
- c.5247+3G>A Single submitter
- p.Asp1996Asn Single submitter
- p.Gly2306= Single submitter
- p.Ser2088= Single submitter
- p.Tyr544= Single submitter
- c.11478+4G>A No assertion criteria DNAH2-related disorder
- c.1904+123T>C No assertion criteria DNAH2-related disorder
- c.1904+340dup No assertion criteria DNAH2-related disorder
- c.9300+10G>T No assertion criteria DNAH2-related disorder
- p.Ala316= No assertion criteria DNAH2-related disorder
- p.Ala3237= No assertion criteria DNAH2-related disorder
- p.Ala3542Thr No assertion criteria DNAH2-related disorder
- p.Ala85= No assertion criteria DNAH2-related disorder
- p.Ala989= No assertion criteria DNAH2-related disorder
- p.Arg1046= No assertion criteria DNAH2-related disorder
- p.Arg1270His No assertion criteria DNAH2-related disorder
- p.Arg3651His No assertion criteria DNAH2-related disorder
- p.Arg4255Gln No assertion criteria DNAH2-related disorder
- p.Arg4389= No assertion criteria DNAH2-related disorder
- p.Asp1504Asn No assertion criteria DNAH2-related disorder
- p.Glu1213Lys No assertion criteria DNAH2-related disorder
- p.Glu1326Gly No assertion criteria DNAH2-related disorder
- p.His3430Asn No assertion criteria DNAH2-related disorder
- p.Ile1862= No assertion criteria DNAH2-related disorder
- p.Leu3644= No assertion criteria DNAH2-related disorder
- p.Phe4232Leu No assertion criteria DNAH2-related disorder ⚠
- p.Pro1500Leu No assertion criteria DNAH2-related disorder
- p.Pro1995Leu No assertion criteria DNAH2-related disorder
- p.Pro4184= No assertion criteria DNAH2-related disorder
- p.Ser312Thr No assertion criteria DNAH2-related disorder
- p.Thr1660= No assertion criteria DNAH2-related disorder
- p.Thr247= No assertion criteria DNAH2-related disorder
- p.Val1650= No assertion criteria DNAH2-related disorder
- p.Val4357Asp No assertion criteria DNAH2-related disorder
Benign/Likely benign 4
- p.Ala1058Thr Multiple submitters Inborn genetic diseases
- p.Pro3967Ser Multiple submitters
- p.Ser4012= Multiple submitters
- p.Ser883Leu Multiple submitters
Likely benign 97
- p.Arg164= Multiple submitters
- p.Pro4325Arg Multiple submitters
- p.Tyr516His Multiple submitters
- c.1904+112A>G Single submitter
- c.3337-6C>G Single submitter
- c.8231-12C>T Single submitter
- p.Ala1036Thr Single submitter Inborn genetic diseases
- p.Ala1100Val Single submitter
- p.Ala156= Single submitter
- p.Ala2659Val Single submitter Inborn genetic diseases
- p.Ala3233= Single submitter
- p.Ala3353Thr Single submitter Inborn genetic diseases
- p.Ala642Val Single submitter Inborn genetic diseases
- p.Arg1040Lys Single submitter Inborn genetic diseases
- p.Arg1063His Single submitter Inborn genetic diseases
- p.Arg2548His Single submitter
- p.Arg573His Single submitter Inborn genetic diseases
- p.Arg782Lys Single submitter Inborn genetic diseases
- p.Asn1491Ser Single submitter Inborn genetic diseases
- p.Asn2408Ser Single submitter Inborn genetic diseases
- p.Asn2586= Single submitter
- p.Asp1425Glu Single submitter Inborn genetic diseases
- p.Asp2860Glu Single submitter Inborn genetic diseases
- p.Asp3375= Single submitter
- p.Gln3298Lys Single submitter Inborn genetic diseases
- p.Glu779= Single submitter
- p.Gly1882Ser Single submitter Inborn genetic diseases
- p.Gly2306Ser Single submitter Inborn genetic diseases
- p.Gly2419= Single submitter
- p.Gly3339Arg Single submitter Inborn genetic diseases
- p.Gly3382= Single submitter
- p.Gly36Glu Single submitter Inborn genetic diseases
- p.Gly4104Ser Single submitter Inborn genetic diseases
- p.His3865= Single submitter Inborn genetic diseases
- p.Ile2196= Single submitter
- p.Ile3354= Single submitter
- p.Ile3521= Single submitter
- p.Leu1024= Single submitter
- p.Leu2441= Single submitter
- p.Leu2878= Single submitter
- p.Leu4092= Single submitter
- p.Leu4250= Single submitter
- p.Leu873= Single submitter
- p.Lys1464= Single submitter
- p.Lys297Arg Single submitter
- p.Met2895Val Single submitter Inborn genetic diseases
- p.Pro1916= Single submitter
- p.Pro2279= Single submitter
- p.Pro376= Single submitter
- p.Ser2365Asn Single submitter Inborn genetic diseases
- p.Ser3826Leu Single submitter Inborn genetic diseases
- p.Thr1263Met Single submitter Inborn genetic diseases
- p.Thr2047= Single submitter
- p.Thr2815= Single submitter
- p.Thr437Met Single submitter Inborn genetic diseases
- p.Tyr1385Cys Single submitter ⚠
- p.Tyr3255= Single submitter
- p.Val1088Leu Single submitter Inborn genetic diseases
- p.Val2048Ile Single submitter Inborn genetic diseases
- p.Val2442Ile Single submitter Inborn genetic diseases
- p.Val303Ile Single submitter Inborn genetic diseases
- p.Val659Met Single submitter Inborn genetic diseases
- c.1171-715G>A No assertion criteria DNAH2-related disorder
- c.1377-9C>A No assertion criteria DNAH2-related disorder
- c.1904+136C>T No assertion criteria DNAH2-related disorder
- c.1904+146dup No assertion criteria DNAH2-related disorder
- c.1904+345A>G No assertion criteria DNAH2-related disorder
- c.2978+10_2978+26del No assertion criteria DNAH2-related disorder
- c.3179+4C>T No assertion criteria DNAH2-related disorder
- c.4363-4T>C No assertion criteria DNAH2-related disorder
- c.7569+9C>T No assertion criteria DNAH2-related disorder
- c.978+10C>T No assertion criteria DNAH2-related disorder
- c.978+4T>C No assertion criteria DNAH2-related disorder
- c.-9G>T No assertion criteria DNAH2-related disorder
- p.Ala316Val No assertion criteria DNAH2-related disorder
- p.Ala4158= No assertion criteria DNAH2-related disorder
- p.Arg3365Trp No assertion criteria DNAH2-related disorder ⚠
- p.Arg369= No assertion criteria DNAH2-related disorder
- p.Arg442= No assertion criteria DNAH2-related disorder
- p.Asn3221= No assertion criteria DNAH2-related disorder
- p.Asn4388= No assertion criteria DNAH2-related disorder
- p.His3748= No assertion criteria DNAH2-related disorder
- p.Ile2425= No assertion criteria DNAH2-related disorder
- p.Ile3627= No assertion criteria DNAH2-related disorder
- p.Leu1770= No assertion criteria DNAH2-related disorder
- p.Leu1776= No assertion criteria DNAH2-related disorder
- p.Leu490= No assertion criteria DNAH2-related disorder
- p.Leu638= No assertion criteria DNAH2-related disorder
- p.Phe3709= No assertion criteria DNAH2-related disorder
- p.Pro376Ser No assertion criteria DNAH2-related disorder
- p.Ser1736Phe No assertion criteria DNAH2-related disorder
- p.Ser2376= No assertion criteria DNAH2-related disorder
- p.Thr3600= No assertion criteria DNAH2-related disorder
- p.Thr3832= No assertion criteria DNAH2-related disorder
- p.Tyr3668= No assertion criteria DNAH2-related disorder
- p.Val1007= No assertion criteria DNAH2-related disorder
- p.Val3522Met No assertion criteria DNAH2-related disorder
Uncertain significance 620
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala1036Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg1533Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg2538Gln Multiple submitters Inborn genetic diseases
- p.Arg3759His Multiple submitters Inborn genetic diseases ⚠
- p.Gln2069Glu Multiple submitters Inborn genetic diseases
- p.Ile4043Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro3819Leu Multiple submitters Inborn genetic diseases ⚠
- c.3179_3179+4dup Single submitter spermatogenic failure 45
- p.Ala1058Val Single submitter Inborn genetic diseases ⚠
- p.Ala1191Ser Single submitter Inborn genetic diseases ⚠
- p.Ala1195Val Single submitter Inborn genetic diseases ⚠
- p.Ala1275Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1415Pro Single submitter Inborn genetic diseases
- p.Ala1415Ser Single submitter Inborn genetic diseases ⚠
- p.Ala1421Ser Single submitter Inborn genetic diseases ⚠
- p.Ala156Pro Single submitter Inborn genetic diseases ⚠
- p.Ala1670Val Single submitter Inborn genetic diseases ⚠
- p.Ala1850Thr Single submitter Inborn genetic diseases
- p.Ala185Glu Single submitter Inborn genetic diseases ⚠
- p.Ala198Ser Single submitter Inborn genetic diseases ⚠
- p.Ala2107Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2197Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2197Val Single submitter Inborn genetic diseases ⚠
- p.Ala2212Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2426Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2489Thr Single submitter Inborn genetic diseases ⚠
- p.Ala3002Thr Single submitter Inborn genetic diseases ⚠
- p.Ala3174Thr Single submitter Inborn genetic diseases ⚠
- p.Ala322Thr Single submitter Inborn genetic diseases ⚠
- p.Ala3233Val Single submitter Inborn genetic diseases
- p.Ala3316Gly Single submitter Inborn genetic diseases
- p.Ala332Thr Single submitter Inborn genetic diseases
- p.Ala3353Val Single submitter Inborn genetic diseases ⚠
- p.Ala3399Val Single submitter Inborn genetic diseases ⚠
- p.Ala3431Thr Single submitter Inborn genetic diseases ⚠
- p.Ala3669Thr Single submitter Inborn genetic diseases ⚠
- p.Ala3731Thr Single submitter Inborn genetic diseases ⚠
- p.Ala3782Asp Single submitter Inborn genetic diseases ⚠
- p.Ala3855Thr Single submitter Inborn genetic diseases
- p.Ala3878Ser Single submitter Inborn genetic diseases ⚠
- p.Ala399Val Single submitter Inborn genetic diseases ⚠
- p.Ala4080Pro Single submitter Inborn genetic diseases ⚠
- p.Ala4117Ser Single submitter Inborn genetic diseases
- p.Ala4120Val Single submitter Inborn genetic diseases ⚠
- p.Ala4159Thr Single submitter Inborn genetic diseases ⚠
- p.Ala4243Glu Single submitter Inborn genetic diseases ⚠
- p.Ala568Ser Single submitter Inborn genetic diseases ⚠
- p.Ala626Glu Single submitter Inborn genetic diseases ⚠
- p.Ala626Ser Single submitter Inborn genetic diseases ⚠
- p.Ala687Asp Single submitter Inborn genetic diseases ⚠
- p.Ala687Gly Single submitter Inborn genetic diseases ⚠
- p.Ala718Thr Single submitter Inborn genetic diseases ⚠
- p.Ala722Thr Single submitter Inborn genetic diseases ⚠
- p.Ala786Thr Single submitter Inborn genetic diseases ⚠
- p.Ala90Val Single submitter Inborn genetic diseases ⚠
- p.Arg1046Cys Single submitter Inborn genetic diseases ⚠
- p.Arg10Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1190Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1190Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1197Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1269Cys Single submitter Inborn genetic diseases
- p.Arg1307Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1320Trp Single submitter Inborn genetic diseases
- p.Arg1325Trp Single submitter Inborn genetic diseases
- p.Arg1417Cys Single submitter Inborn genetic diseases
- p.Arg1417His Single submitter Inborn genetic diseases ⚠
- p.Arg1431Cys Single submitter Inborn genetic diseases
- p.Arg1431Pro Single submitter Inborn genetic diseases
- p.Arg1448Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1448His Single submitter Inborn genetic diseases
- p.Arg1463Ser Single submitter Inborn genetic diseases
- p.Arg1486Thr Single submitter Inborn genetic diseases ⚠
- p.Arg1528Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1622Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1626Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1626Trp Single submitter Inborn genetic diseases
- p.Arg1673Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1673Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1706Gln Single submitter Inborn genetic diseases
- p.Arg1720Trp Single submitter Inborn genetic diseases
- p.Arg173Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1744Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1775Gln Single submitter Inborn genetic diseases
- p.Arg1775Trp Single submitter Inborn genetic diseases
- p.Arg1859Cys Single submitter Inborn genetic diseases
- p.Arg1859His Single submitter Inborn genetic diseases
- p.Arg1912Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1912Gly Single submitter Inborn genetic diseases
- p.Arg1924His Single submitter Inborn genetic diseases ⚠
- p.Arg1978Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1978His Single submitter Inborn genetic diseases ⚠
- p.Arg1991Cys Single submitter Inborn genetic diseases ⚠
- p.Arg2045Trp Single submitter Inborn genetic diseases ⚠
- p.Arg2095His Single submitter Inborn genetic diseases ⚠
- p.Arg2195His Single submitter Inborn genetic diseases ⚠
- p.Arg2397Cys Single submitter Inborn genetic diseases
- p.Arg2397Gly Single submitter Inborn genetic diseases
- p.Arg24Gln Single submitter Inborn genetic diseases ⚠
- p.Arg24Trp Single submitter Inborn genetic diseases ⚠
- p.Arg2503Cys Single submitter Inborn genetic diseases
- p.Arg2514Cys Single submitter Inborn genetic diseases
- p.Arg2514His Single submitter Inborn genetic diseases ⚠
- p.Arg254Gln Single submitter Inborn genetic diseases
- p.Arg2564Cys Single submitter Inborn genetic diseases
- p.Arg2617Gln Single submitter Inborn genetic diseases ⚠
- p.Arg2642Gln Single submitter Inborn genetic diseases
- p.Arg2689His Single submitter Inborn genetic diseases ⚠
- p.Arg2746Gln Single submitter Inborn genetic diseases
- p.Arg2746Trp Single submitter Inborn genetic diseases
- p.Arg2755Trp Single submitter spermatogenic failure 45 ⚠
- p.Arg2793Trp Single submitter Inborn genetic diseases
- p.Arg2806Cys Single submitter Inborn genetic diseases ⚠
- p.Arg2806His Single submitter Inborn genetic diseases ⚠
- p.Arg2881Cys Single submitter Inborn genetic diseases
- p.Arg2881His Single submitter Inborn genetic diseases
- p.Arg2997Gln Single submitter Inborn genetic diseases ⚠
- p.Arg2997Trp Single submitter Inborn genetic diseases
- p.Arg3008Pro Single submitter Inborn genetic diseases ⚠
- p.Arg3008Trp Single submitter Inborn genetic diseases
- p.Arg3201Gly Single submitter Inborn genetic diseases
- p.Arg3211Gln Single submitter Inborn genetic diseases
- p.Arg3211Leu Single submitter Inborn genetic diseases
- p.Arg3242Trp Single submitter Inborn genetic diseases
- p.Arg3266Cys Single submitter Inborn genetic diseases
- p.Arg330Cys Single submitter Inborn genetic diseases ⚠
- p.Arg330His Single submitter Inborn genetic diseases ⚠
- p.Arg3387Gln Single submitter Inborn genetic diseases
- p.Arg3426Gln Single submitter Inborn genetic diseases ⚠
- p.Arg3482His Single submitter Inborn genetic diseases
- p.Arg3524Gln Single submitter ⚠
- p.Arg3604Trp Single submitter Inborn genetic diseases
- p.Arg3608Cys Single submitter Inborn genetic diseases
- p.Arg3651Cys Single submitter Inborn genetic diseases
- p.Arg3658Cys Single submitter Inborn genetic diseases ⚠
- p.Arg3658His Single submitter Inborn genetic diseases ⚠
- p.Arg3676Cys Single submitter Inborn genetic diseases ⚠
- p.Arg3681His Single submitter Inborn genetic diseases ⚠
- p.Arg3711His Single submitter Inborn genetic diseases
- p.Arg3759Pro Single submitter Inborn genetic diseases ⚠
- p.Arg3788Gln Single submitter Inborn genetic diseases ⚠
- p.Arg3788Trp Single submitter Inborn genetic diseases ⚠
- p.Arg3793Cys Single submitter Inborn genetic diseases
- p.Arg3799His Single submitter Inborn genetic diseases
- p.Arg3815Cys Single submitter Inborn genetic diseases ⚠
- p.Arg381Leu Single submitter Inborn genetic diseases
- p.Arg3834Gln Single submitter Inborn genetic diseases ⚠
- p.Arg3863His Single submitter Inborn genetic diseases ⚠
- p.Arg3882Gln Single submitter Inborn genetic diseases ⚠
- p.Arg3923His Single submitter Inborn genetic diseases
- p.Arg400Cys Single submitter Inborn genetic diseases
- p.Arg400His Single submitter Inborn genetic diseases ⚠
- p.Arg400Leu Single submitter Inborn genetic diseases
- p.Arg4055Gln Single submitter Inborn genetic diseases
- p.Arg4055Trp Single submitter Inborn genetic diseases
- p.Arg4077Trp Single submitter Inborn genetic diseases ⚠
- p.Arg422Gln Single submitter Inborn genetic diseases ⚠
- p.Arg4270Trp Single submitter Inborn genetic diseases ⚠
- p.Arg4343Gln Single submitter Inborn genetic diseases ⚠
- p.Arg4366Gln Single submitter Inborn genetic diseases ⚠
- p.Arg4389Pro Single submitter
- p.Arg442His Single submitter Inborn genetic diseases ⚠
- p.Arg556Cys Single submitter Inborn genetic diseases ⚠
- p.Arg556His Single submitter Inborn genetic diseases ⚠
- p.Arg58Gln Single submitter Inborn genetic diseases ⚠
- p.Arg613Gln Single submitter Inborn genetic diseases ⚠
- p.Arg620Gln Single submitter Inborn genetic diseases ⚠
- p.Arg664Gln Single submitter Inborn genetic diseases ⚠
- p.Arg669His Single submitter Inborn genetic diseases ⚠
- p.Arg731Cys Single submitter Inborn genetic diseases ⚠
- p.Arg731His Single submitter Inborn genetic diseases ⚠
- p.Arg765Cys Single submitter Inborn genetic diseases ⚠
- p.Arg770Trp Single submitter Inborn genetic diseases ⚠
- p.Arg785Gln Single submitter Inborn genetic diseases ⚠
- p.Arg83Gln Single submitter Inborn genetic diseases ⚠
- p.Arg917Cys Single submitter Inborn genetic diseases ⚠
- p.Arg917Gly Single submitter Inborn genetic diseases ⚠
- p.Arg917Leu Single submitter Inborn genetic diseases ⚠
- p.Arg921Cys Single submitter Inborn genetic diseases ⚠
- p.Arg976Cys Single submitter Inborn genetic diseases
- p.Arg979Cys Single submitter Inborn genetic diseases
- p.Asn1121Ser Single submitter Inborn genetic diseases ⚠
- p.Asn1492Lys Single submitter Inborn genetic diseases ⚠
- p.Asn2302Lys Single submitter Inborn genetic diseases ⚠
- p.Asn2410Ser Single submitter Inborn genetic diseases ⚠
- p.Asn2452Asp Single submitter Inborn genetic diseases ⚠
- p.Asn2911Ser Single submitter Inborn genetic diseases ⚠
- p.Asn2944Ser Single submitter Inborn genetic diseases ⚠
- p.Asn3163Ser Single submitter Inborn genetic diseases
- p.Asn3456Lys Single submitter Inborn genetic diseases ⚠
- p.Asn3622Ser Single submitter Inborn genetic diseases ⚠
- p.Asn3767Ser Single submitter Inborn genetic diseases ⚠
- p.Asn3956Lys Single submitter Inborn genetic diseases
- p.Asn4063Asp Single submitter Inborn genetic diseases ⚠
- p.Asn839His Single submitter Inborn genetic diseases ⚠
- p.Asp1016Ala Single submitter Inborn genetic diseases
- p.Asp1084Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1118His Single submitter Inborn genetic diseases ⚠
- p.Asp1485His Single submitter ⚠
- p.Asp1521Asn Single submitter Inborn genetic diseases
- p.Asp1815Asn Single submitter Inborn genetic diseases
- p.Asp2171Asn Single submitter Inborn genetic diseases ⚠
- p.Asp2338Asn Single submitter Inborn genetic diseases
- p.Asp2594Glu Single submitter Inborn genetic diseases ⚠
- p.Asp2658Tyr Single submitter Inborn genetic diseases
- p.Asp2671Gly Single submitter Inborn genetic diseases ⚠
- p.Asp2780Asn Single submitter Inborn genetic diseases ⚠
- p.Asp2832Tyr Single submitter Inborn genetic diseases
- p.Asp3166Tyr Single submitter Inborn genetic diseases
- p.Asp3355Asn Single submitter Inborn genetic diseases ⚠
- p.Asp3396Asn Single submitter Inborn genetic diseases
- p.Asp3628Asn Single submitter Inborn genetic diseases
- p.Asp3628Glu Single submitter Inborn genetic diseases
- p.Asp3917Glu Single submitter Inborn genetic diseases ⚠
- p.Asp393Asn Single submitter Inborn genetic diseases ⚠
- p.Asp403Asn Single submitter Inborn genetic diseases ⚠
- p.Asp4089Asn Single submitter Inborn genetic diseases ⚠
- p.Asp4118Tyr Single submitter Inborn genetic diseases
- p.Asp4305Gly Single submitter Inborn genetic diseases ⚠
- p.Asp4318Asn Single submitter Inborn genetic diseases ⚠
- p.Asp4327Val Single submitter Inborn genetic diseases ⚠
- p.Asp4342Tyr Single submitter Inborn genetic diseases
- p.Asp456Ala Single submitter Inborn genetic diseases ⚠
- p.Asp592Glu Single submitter Inborn genetic diseases ⚠
- p.Asp774Asn Single submitter Inborn genetic diseases ⚠
- p.Asp931Ala Single submitter Inborn genetic diseases
- p.Cys1754Gly Single submitter Inborn genetic diseases
- p.Cys1754Tyr Single submitter Inborn genetic diseases
- p.Cys2154Arg Single submitter Inborn genetic diseases
- p.Cys285Tyr Single submitter Inborn genetic diseases
- p.Cys3626Phe Single submitter Inborn genetic diseases
- p.Cys3803Tyr Single submitter Inborn genetic diseases
- p.Cys411Phe Single submitter Inborn genetic diseases ⚠
- p.Gln1098Arg Single submitter Inborn genetic diseases ⚠
- p.Gln135Lys Single submitter Inborn genetic diseases ⚠
- p.Gln1369Lys Single submitter Inborn genetic diseases ⚠
- p.Gln137His Single submitter Inborn genetic diseases ⚠
- p.Gln1407Arg Single submitter Inborn genetic diseases
- p.Gln2239Arg Single submitter Inborn genetic diseases
- p.Gln2455His Single submitter Inborn genetic diseases
- p.Gln255Lys Single submitter Inborn genetic diseases
- p.Gln2601Pro Single submitter Inborn genetic diseases ⚠
- p.Gln263Arg Single submitter Inborn genetic diseases
- p.Gln263Pro Single submitter Inborn genetic diseases
- p.Gln2861His Single submitter Inborn genetic diseases ⚠
- p.Gln3022Lys Single submitter Inborn genetic diseases ⚠
- p.Gln3060His Single submitter Inborn genetic diseases
- p.Gln3517Ter Single submitter spermatogenic failure 45
- p.Gln3571Arg Single submitter Inborn genetic diseases ⚠
- p.Gln4139His Single submitter Inborn genetic diseases ⚠
- p.Gln4148Glu Single submitter Inborn genetic diseases ⚠
- p.Gln4299His Single submitter Inborn genetic diseases ⚠
- p.Gln789Glu Single submitter Inborn genetic diseases ⚠
- p.Gln978Arg Single submitter Inborn genetic diseases ⚠
- p.Glu1070Gly Single submitter Inborn genetic diseases ⚠
- p.Glu1115Asp Single submitter Inborn genetic diseases ⚠
- p.Glu1246Gly Single submitter Inborn genetic diseases ⚠
- p.Glu1284Lys Single submitter Inborn genetic diseases ⚠
- p.Glu1326Asp Single submitter Inborn genetic diseases ⚠
- p.Glu1349Lys Single submitter Inborn genetic diseases
- p.Glu1397Lys Single submitter Inborn genetic diseases
- p.Glu1917Gly Single submitter Inborn genetic diseases ⚠
- p.Glu2046Ala Single submitter Inborn genetic diseases ⚠
- p.Glu2157Lys Single submitter Inborn genetic diseases ⚠
- p.Glu2200Lys Single submitter Inborn genetic diseases
- p.Glu2243Gly Single submitter Inborn genetic diseases
- p.Glu2924Asp Single submitter Inborn genetic diseases ⚠
- p.Glu3016Asp Single submitter Inborn genetic diseases ⚠
- p.Glu3090Lys Single submitter Inborn genetic diseases ⚠
- p.Glu3476Lys Single submitter Inborn genetic diseases ⚠
- p.Glu3529Lys Single submitter Inborn genetic diseases ⚠
- p.Glu3591Gln Single submitter Inborn genetic diseases
- p.Glu3605Lys Single submitter Inborn genetic diseases
- p.Glu3818Lys Single submitter Inborn genetic diseases
- p.Glu3911Gly Single submitter Inborn genetic diseases ⚠
- p.Glu4109Gln Single submitter Inborn genetic diseases
- p.Glu49Lys Single submitter Inborn genetic diseases ⚠
- p.Glu579Lys Single submitter Inborn genetic diseases ⚠
- p.Glu666Gly Single submitter Inborn genetic diseases
- p.Glu666Lys Single submitter Inborn genetic diseases ⚠
- p.Glu693Lys Single submitter Inborn genetic diseases
- p.Glu699Gly Single submitter Inborn genetic diseases ⚠
- p.Gly1178Ala Single submitter ⚠
- p.Gly1501Ala Single submitter Inborn genetic diseases
- p.Gly1547Asp Single submitter Inborn genetic diseases ⚠
- p.Gly161Arg Single submitter Inborn genetic diseases
- p.Gly177Glu Single submitter Inborn genetic diseases ⚠
- p.Gly188Asp Single submitter Inborn genetic diseases ⚠
- p.Gly1988Asp Single submitter Inborn genetic diseases
- p.Gly2494Ala Single submitter Inborn genetic diseases
- p.Gly273Ser Single submitter Inborn genetic diseases
- p.Gly2767Arg Single submitter Inborn genetic diseases ⚠
- p.Gly299Glu Single submitter Inborn genetic diseases ⚠
- p.Gly3288Ser Single submitter Inborn genetic diseases ⚠
- p.Gly3435Arg Single submitter Inborn genetic diseases ⚠
- p.Gly3749Arg Single submitter Inborn genetic diseases
- p.Gly3813Cys Single submitter Inborn genetic diseases
- p.Gly3859Ala Single submitter Inborn genetic diseases
- p.Gly4147Asp Single submitter Inborn genetic diseases ⚠
- p.Gly417Arg Single submitter Inborn genetic diseases
- p.Gly4333Asp Single submitter Inborn genetic diseases ⚠