DNAH12 — 378 ClinVar variants

All ClinVar germline DNAH12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 199 flagged for review →

2 Pathogenic · 15 Benign · 12 Likely benign · 349 Uncertain significance

Full DNAH12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 199

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 lean, ClinVar uncertain 192

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 192

Predictors split 7

The independent predictors disagree with each other — read with care.

All DNAH12 variants

Pathogenic 2

p.Pro1389Leu No assertion criteria spermatogenic failure 100
p.Ser2178Ter No assertion criteria spermatogenic failure 100

Benign 15

c.1650+6G>A Multiple submitters
c.1912-8A>G Multiple submitters
c.3053+9A>G Multiple submitters
c.5253+263A>T Multiple submitters
c.5253+289C>T Multiple submitters
c.6948+922= Multiple submitters
p.Asp1572Asn Multiple submitters
p.Asp224Glu Multiple submitters
p.Gly3761Ser Multiple submitters
p.Leu1318= Multiple submitters
p.Leu3213= Multiple submitters
p.Thr467Pro Multiple submitters
p.Tyr1446= Multiple submitters
p.Tyr1727His Multiple submitters
p.Leu1054Val Single submitter

Likely benign 12

c.7306-7T>C Single submitter
p.Arg1812His Single submitter
p.Arg3707Gln Single submitter
p.Arg3902Gln Single submitter
p.Arg3945Gln Single submitter
p.Arg917= Single submitter
p.Glu2022Gln Single submitter
p.Gly1914Ser Single submitter
p.Pro3612= Single submitter
p.Thr575Ala Single submitter
p.Tyr2008= Single submitter
p.Val540Ala Single submitter

Uncertain significance 349

Showing the top 300 by review status; the full set is in the sitemap.

c.4546-2A>G Single submitter
c.5253+240T>G Single submitter ⚠
c.6948+896C>T Single submitter ⚠
c.9534-3T>C Single submitter
p.Ala1007Thr Single submitter ⚠
p.Ala1084Val Single submitter
p.Ala1273Asp Single submitter ⚠
p.Ala1319Ser Single submitter
p.Ala1571Thr Single submitter
p.Ala1571Val Single submitter
p.Ala1620Thr Single submitter ⚠
p.Ala1729Thr Single submitter ⚠
p.Ala1947Thr Single submitter
p.Ala2133Val Single submitter ⚠
p.Ala255Ser Single submitter ⚠
p.Ala255Thr Single submitter ⚠
p.Ala3330Thr Single submitter ⚠
p.Ala3372Val Single submitter
p.Ala3829Thr Single submitter
p.Ala426Val Single submitter
p.Ala454Thr Single submitter ⚠
p.Ala61Ser Single submitter ⚠
p.Arg1013Cys Single submitter ⚠
p.Arg1085Gln Single submitter ⚠
p.Arg1085Leu Single submitter ⚠
p.Arg1101Trp Single submitter
p.Arg1124Gly Single submitter ⚠
p.Arg1219Gln Single submitter
p.Arg1230Cys Single submitter ⚠
p.Arg1478Gln Single submitter
p.Arg1812Cys Single submitter ⚠
p.Arg1944Trp Single submitter
p.Arg1962His Single submitter
p.Arg1999Gln Single submitter
p.Arg2060Gln Single submitter ⚠
p.Arg2119Cys Single submitter
p.Arg2119His Single submitter
p.Arg2122Trp Single submitter ⚠
p.Arg2129Thr Single submitter ⚠
p.Arg2140Cys Single submitter
p.Arg2140His Single submitter
p.Arg2153Cys Single submitter
p.Arg3187His Single submitter ⚠
p.Arg3205Gln Single submitter ⚠
p.Arg3227Gly Single submitter
p.Arg3267Trp Single submitter
p.Arg3320Gln Single submitter
p.Arg3482Gln Single submitter
p.Arg3504Gly Single submitter ⚠
p.Arg3547Cys Single submitter ⚠
p.Arg3547His Single submitter
p.Arg356Gln Single submitter ⚠
p.Arg3588Cys Single submitter ⚠
p.Arg3793Leu Single submitter ⚠
p.Arg3919Cys Single submitter ⚠
p.Arg3919His Single submitter
p.Arg3945Trp Single submitter ⚠
p.Arg402Trp Single submitter ⚠
p.Arg470Cys Single submitter ⚠
p.Arg470His Single submitter ⚠
p.Arg538Gln Single submitter ⚠
p.Arg554Cys Single submitter ⚠
p.Arg554His Single submitter ⚠
p.Arg609Lys Single submitter ⚠
p.Arg621Cys Single submitter ⚠
p.Arg621His Single submitter ⚠
p.Arg622His Single submitter ⚠
p.Arg634Leu Single submitter ⚠
p.Arg648His Single submitter ⚠
p.Arg698Gln Single submitter ⚠
p.Arg702Trp Single submitter
p.Arg752Trp Single submitter ⚠
p.Arg917His Single submitter
p.Arg920Gln Single submitter ⚠
p.Arg920Ter Single submitter
p.Arg956Cys Single submitter
p.Asn1369Ser Single submitter
p.Asn1484Ile Single submitter
p.Asn1578His Single submitter
p.Asn1829Lys Single submitter ⚠
p.Asn3615Ser Single submitter ⚠
p.Asn54Thr Single submitter ⚠
p.Asn584Ser Single submitter ⚠
p.Asp1105Asn Single submitter ⚠
p.Asp1304Asn Single submitter
p.Asp1390Gly Single submitter ⚠
p.Asp1447His Single submitter ⚠
p.Asp1482Gly Single submitter ⚠
p.Asp1656Gly Single submitter ⚠
p.Asp1826Val Single submitter ⚠
p.Asp1827Val Single submitter ⚠
p.Asp1932Asn Single submitter ⚠
p.Asp216Asn Single submitter ⚠
p.Asp286Val Single submitter
p.Asp335Asn Single submitter ⚠
p.Asp3682Asn Single submitter ⚠
p.Asp3691Gly Single submitter ⚠
p.Asp3701Asn Single submitter ⚠
p.Asp3789Asn Single submitter
p.Asp3852Asn Single submitter ⚠
p.Asp3907His Single submitter ⚠
p.Asp3959Glu Single submitter ⚠
p.Asp441Asn Single submitter ⚠
p.Asp472Glu Single submitter
p.Asp705Gly Single submitter
p.Asp926Glu Single submitter
p.Cys2004Gly Single submitter ⚠
p.Cys2124Phe Single submitter
p.Cys2124Ser Single submitter
p.Cys2262Tyr Single submitter
p.Cys3446Ser Single submitter
p.Gln1164Glu Single submitter
p.Gln1877Leu Single submitter ⚠
p.Gln1951Pro Single submitter ⚠
p.Gln2233His Single submitter ⚠
p.Gln3818Arg Single submitter
p.Gln636Glu Single submitter ⚠
p.Gln804Arg Single submitter ⚠
p.Gln804His Single submitter
p.Gln885Glu Single submitter
p.Gln922Pro Single submitter ⚠
p.Gln932Glu Single submitter ⚠
p.Gln949Lys Single submitter ⚠
p.Glu1225Asp Single submitter ⚠
p.Glu1545fs Single submitter
p.Glu3209Gly Single submitter ⚠
p.Glu3229Gln Single submitter ⚠
p.Glu3231Gly Single submitter ⚠
p.Glu3270Gln Single submitter ⚠
p.Glu3290Asp Single submitter ⚠
p.Glu3345Lys Single submitter
p.Glu3543Ala Single submitter
p.Glu3647Ala Single submitter ⚠
p.Glu416Lys Single submitter ⚠
p.Glu722Asp Single submitter ⚠
p.Glu722Lys Single submitter
p.Glu744Gly Single submitter ⚠
p.Glu883Lys Single submitter
p.Glu927Ala Single submitter ⚠
p.Gly1004Asp Single submitter ⚠
p.Gly1185Glu Single submitter
p.Gly1312Ala Single submitter ⚠
p.Gly1312Glu Single submitter
p.Gly1506Ser Single submitter
p.Gly1810Cys Single submitter
p.Gly1964Glu Single submitter
p.Gly3371Glu Single submitter
p.Gly3416Glu Single submitter ⚠
p.Gly3470Ala Single submitter
p.Gly3840Arg Single submitter ⚠
p.Gly3863Arg Single submitter
p.Gly406Arg Single submitter ⚠
p.Gly796Glu Single submitter
p.Gly842Ser Single submitter ⚠
p.His1208Arg Single submitter ⚠
p.His1491Tyr Single submitter ⚠
p.His1568Leu Single submitter
p.His1568Tyr Single submitter
p.His1612Arg Single submitter
p.His2174Asn Single submitter ⚠
p.His3284Tyr Single submitter ⚠
p.His3607Arg Single submitter ⚠
p.His516Asn Single submitter ⚠
p.Ile1134Leu Single submitter ⚠
p.Ile1352Leu Single submitter ⚠
p.Ile1648Thr Single submitter ⚠
p.Ile1678Val Single submitter ⚠
p.Ile1739Thr Single submitter
p.Ile1954Thr Single submitter
p.Ile2061Val Single submitter
p.Ile325Val Single submitter ⚠
p.Ile3331Val Single submitter ⚠
p.Ile3395Val Single submitter ⚠
p.Ile3404Thr Single submitter
p.Ile3628Thr Single submitter ⚠
p.Ile3836Thr Single submitter
p.Ile3836Val Single submitter ⚠
p.Ile513Val Single submitter ⚠
p.Ile53Ser Single submitter
p.Ile549Ser Single submitter
p.Ile867Val Single submitter ⚠
p.Ile877Val Single submitter
p.Leu1176Phe Single submitter
p.Leu1270Phe Single submitter
p.Leu1309Val Single submitter ⚠
p.Leu1388Ser Single submitter ⚠
p.Leu140Phe Single submitter ⚠
p.Leu1677Phe Single submitter ⚠
p.Leu176Ser Single submitter ⚠
p.Leu3214Phe Single submitter
p.Leu3235Pro Single submitter ⚠
p.Leu3319Val Single submitter ⚠
p.Leu3368Val Single submitter
p.Leu3426Pro Single submitter ⚠
p.Leu3839Arg Single submitter
p.Leu545Trp Single submitter
p.Lys1011Glu Single submitter
p.Lys1178Gln Single submitter ⚠
p.Lys1316Arg Single submitter
p.Lys1316Glu Single submitter
p.Lys1316Ile Single submitter
p.Lys1464Arg Single submitter ⚠
p.Lys1534Gln Single submitter ⚠
p.Lys1587Asn Single submitter ⚠
p.Lys1876Arg Single submitter ⚠
p.Lys1972Gln Single submitter ⚠
p.Lys2188Glu Single submitter ⚠
p.Lys2304Arg Single submitter
p.Lys2304Glu Single submitter
p.Lys3180Gln Single submitter ⚠
p.Lys3180Thr Single submitter
p.Lys3341Glu Single submitter
p.Lys3385Thr Single submitter ⚠
p.Lys3949Glu Single submitter
p.Lys514Asn Single submitter
p.Lys680Glu Single submitter
p.Lys729Arg Single submitter ⚠
p.Lys739Gln Single submitter ⚠
p.Lys905Arg Single submitter
p.Met1002Thr Single submitter
p.Met1402Ile Single submitter
p.Met1450Val Single submitter
p.Met152Thr Single submitter
p.Met1546Leu Single submitter
p.Met1600Leu Single submitter ⚠
p.Met1651Val Single submitter ⚠
p.Met1664Leu Single submitter
p.Met1682Val Single submitter ⚠
p.Met1888Thr Single submitter ⚠
p.Met2058Val Single submitter
p.Met2091Val Single submitter ⚠
p.Met211Thr Single submitter
p.Met2308Leu Single submitter ⚠
p.Met3387Val Single submitter ⚠
p.Met3431Thr Single submitter
p.Met3593Thr Single submitter ⚠
p.Met458Arg Single submitter ⚠
p.Met468Val Single submitter ⚠
p.Met606Thr Single submitter ⚠
p.Met771Val Single submitter ⚠
p.Met853Thr Single submitter
p.Met898Ile Single submitter
p.Met898Val Single submitter
p.Met89Thr Single submitter ⚠
p.Phe1020Leu Single submitter ⚠
p.Phe1314Cys Single submitter
p.Phe1796Ser Single submitter
p.Phe1817Leu Single submitter
p.Phe2175Val Single submitter ⚠
p.Phe2179Cys Single submitter
p.Phe311Ser Single submitter
p.Phe339Ser Single submitter
p.Phe3728Ser Single submitter
p.Phe3790Ile Single submitter
p.Phe433Ser Single submitter ⚠
p.Phe690Leu Single submitter
p.Phe723Tyr Single submitter ⚠
p.Phe836Ser Single submitter ⚠
p.Pro110Ala Single submitter ⚠
p.Pro1370Leu Single submitter
p.Pro1632Ala Single submitter ⚠
p.Pro1721Leu Single submitter ⚠
p.Pro180Ser Single submitter ⚠
p.Pro1832Ser Single submitter
p.Pro1969His Single submitter
p.Pro1993Thr Single submitter
p.Pro2030Ser Single submitter
p.Pro2192Ala Single submitter ⚠
p.Pro22Leu Single submitter ⚠
p.Pro3254Ser Single submitter ⚠
p.Pro3346Thr Single submitter
p.Pro341Leu Single submitter
p.Pro3458Ser Single submitter
p.Pro3697Leu Single submitter
p.Pro585Leu Single submitter ⚠
p.Pro77Ser Single submitter ⚠
p.Pro940Ala Single submitter
p.Ser1320Ala Single submitter
p.Ser1416Phe Single submitter ⚠
p.Ser1441Thr Single submitter
p.Ser159Asn Single submitter ⚠
p.Ser1629Pro Single submitter ⚠
p.Ser1672Phe Single submitter
p.Ser1685Phe Single submitter
p.Ser1918Pro Single submitter ⚠
p.Ser1942Pro Single submitter ⚠
p.Ser3294Gly Single submitter
p.Ser3785Arg Single submitter
p.Ser3906Leu Single submitter ⚠
p.Ser46Cys Single submitter ⚠
p.Ser840Gly Single submitter
p.Thr1615Ala Single submitter ⚠
p.Thr1894Met Single submitter
p.Thr1913Ala Single submitter
p.Thr225Ala Single submitter ⚠
p.Thr294Ile Single submitter ⚠
p.Thr3336Ala Single submitter ⚠
p.Thr3417Ile Single submitter
p.Thr3445Ser Single submitter ⚠
p.Thr3474Ser Single submitter ⚠