ABCA6 — 231 ClinVar variants

All ClinVar germline ABCA6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 207 flagged for review →

25 Likely benign · 206 Uncertain significance

Full ABCA6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 207

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 126

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 81

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

All ABCA6 variants

Likely benign 25

c.792-8T>C Single submitter
p.Ala1303= Single submitter
p.Ala1387Val Single submitter
p.Ala1476= Single submitter
p.Ala841= Single submitter
p.Arg1227Gln Single submitter
p.Arg660His Single submitter ⚠
p.Glu1187Asp Single submitter
p.His219Gln Single submitter
p.His664Arg Single submitter
p.Ile1036Val Single submitter
p.Ile540= Single submitter
p.Ile82Val Single submitter
p.Leu1047= Single submitter
p.Leu1421= Single submitter
p.Leu1504Phe Single submitter
p.Leu234Phe Single submitter
p.Pro194Ser Single submitter
p.Pro389Ser Single submitter
p.Pro732= Single submitter
p.Val1176Glu Single submitter
p.Val1459Ile Single submitter
p.Val1550Met Single submitter
p.Val346Ala Single submitter
p.Val784Ile Single submitter

Uncertain significance 206

p.Ala1043Gly Single submitter ⚠
p.Ala107Thr Single submitter ⚠
p.Ala1287Thr Single submitter ⚠
p.Ala1303Thr Single submitter ⚠
p.Ala1389Glu Single submitter ⚠
p.Ala1392Thr Single submitter ⚠
p.Ala1454Thr Single submitter ⚠
p.Ala1535Val Single submitter ⚠
p.Ala1565Thr Single submitter ⚠
p.Ala581Asp Single submitter ⚠
p.Ala877Thr Single submitter ⚠
p.Arg1297Trp Single submitter ⚠
p.Arg1304Ile Single submitter ⚠
p.Arg1331Ser Single submitter ⚠
p.Arg1482Cys Single submitter ⚠
p.Arg1490Ser Single submitter ⚠
p.Arg427Cys Single submitter ⚠
p.Arg427Gly Single submitter ⚠
p.Arg427His Single submitter ⚠
p.Arg445Ser Single submitter ⚠
p.Arg661Thr Single submitter ⚠
p.Arg682Gly Single submitter ⚠
p.Arg703Ser Single submitter ⚠
p.Arg844His Single submitter ⚠
p.Arg904Cys Single submitter ⚠
p.Arg904His Single submitter ⚠
p.Asn1042Asp Single submitter ⚠
p.Asn1363Ser Single submitter ⚠
p.Asn1597Ser Single submitter ⚠
p.Asn528Asp Single submitter ⚠
p.Asn688Ser Single submitter ⚠
p.Asn719Lys Single submitter ⚠
p.Asn71Ile Single submitter ⚠
p.Asn782Ser Single submitter ⚠
p.Asn880Ile Single submitter ⚠
p.Asn91Asp Single submitter ⚠
p.Asp1065Asn Single submitter ⚠
p.Asp1250Asn Single submitter ⚠
p.Asp456Glu Single submitter ⚠
p.Asp463Glu Single submitter ⚠
p.Asp651Gly Single submitter ⚠
p.Asp663Gly Single submitter ⚠
p.Asp733Asn Single submitter ⚠
p.Asp733Glu Single submitter ⚠
p.Asp934His Single submitter ⚠
p.Cys1059Tyr Single submitter ⚠
p.Cys362Phe Single submitter ⚠
p.Cys718Tyr Single submitter ⚠
p.Cys966Ser Single submitter ⚠
p.Gln1237Arg Single submitter ⚠
p.Gln1456Glu Single submitter ⚠
p.Gln1537Arg Single submitter ⚠
p.Gln179Arg Single submitter ⚠
p.Glu115Asp Single submitter ⚠
p.Glu1253Asp Single submitter ⚠
p.Glu1362Gln Single submitter ⚠
p.Glu162Gln Single submitter ⚠
p.Glu162Lys Single submitter ⚠
p.Glu426Lys Single submitter ⚠
p.Glu454Gly Single submitter ⚠
p.Glu617Ala Single submitter ⚠
p.Glu659Asp Single submitter ⚠
p.Glu799Lys Single submitter ⚠
p.Glu808Lys Single submitter ⚠
p.Gly1012Arg Single submitter ⚠
p.Gly1012Trp Single submitter ⚠
p.Gly1012Val Single submitter ⚠
p.Gly1320Arg Single submitter ⚠
p.Gly1342Arg Single submitter ⚠
p.Gly1348Val Single submitter ⚠
p.Gly1354Val Single submitter ⚠
p.Gly1429Arg Single submitter ⚠
p.Gly1495Cys Single submitter ⚠
p.Gly159Ala Single submitter ⚠
p.Gly391Arg Single submitter ⚠
p.Gly507Asp Single submitter ⚠
p.Gly514Cys Single submitter ⚠
p.Gly514Val Single submitter ⚠
p.Gly770Glu Single submitter ⚠
p.His1283Gln Single submitter ⚠
p.His1403Arg Single submitter ⚠
p.His1403Gln Single submitter ⚠
p.His515Arg Single submitter ⚠
p.His991Gln Single submitter ⚠
p.His994Arg Single submitter ⚠
p.Ile105Thr Single submitter ⚠
p.Ile1100Met Single submitter ⚠
p.Ile1140Val Single submitter ⚠
p.Ile1277Leu Single submitter ⚠
p.Ile1443Val Single submitter ⚠
p.Ile292Thr Single submitter ⚠
p.Ile374Ser Single submitter ⚠
p.Ile540Asn Single submitter ⚠
p.Ile540Val Single submitter ⚠
p.Ile598Met Single submitter ⚠
p.Ile607Ser Single submitter ⚠
p.Ile627Val Single submitter ⚠
p.Ile870Leu Single submitter ⚠
p.Ile870Met Single submitter ⚠
p.Ile929Val Single submitter ⚠
p.Ile951Phe Single submitter ⚠
p.Ile981Phe Single submitter ⚠
p.Leu1024Pro Single submitter ⚠
p.Leu1063Pro Single submitter ⚠
p.Leu1167Val Single submitter ⚠
p.Leu1316Phe Single submitter ⚠
p.Leu1384Phe Single submitter ⚠
p.Leu1577Phe Single submitter ⚠
p.Leu21Phe Single submitter ⚠
p.Leu306Ile Single submitter ⚠
p.Leu39Ile Single submitter ⚠
p.Leu856Met Single submitter ⚠
p.Leu908Ser Single submitter ⚠
p.Lys1299Asn Single submitter ⚠
p.Lys136Arg Single submitter ⚠
p.Lys1503Asn Single submitter ⚠
p.Lys1506Glu Single submitter ⚠
p.Lys22Arg Single submitter ⚠
p.Lys22Gln Single submitter ⚠
p.Lys419Arg Single submitter ⚠
p.Lys484Glu Single submitter ⚠
p.Lys490Arg Single submitter ⚠
p.Lys520Arg Single submitter ⚠
p.Lys520Thr Single submitter ⚠
p.Lys622Arg Single submitter ⚠
p.Lys958Thr Single submitter ⚠
p.Met1076Ile Single submitter ⚠
p.Met1159Ile Single submitter ⚠
p.Met1159Val Single submitter ⚠
p.Met1217Val Single submitter ⚠
p.Met200Ile Single submitter ⚠
p.Met222Val Single submitter ⚠
p.Met256Thr Single submitter ⚠
p.Met294Thr Single submitter ⚠
p.Met298Thr Single submitter ⚠
p.Met396Val Single submitter ⚠
p.Met548Ile Single submitter ⚠
p.Met686Ile Single submitter ⚠
p.Met778Ile Single submitter ⚠
p.Met803Val Single submitter ⚠
p.Met813Val Single submitter ⚠
p.Met830Thr Single submitter ⚠
p.Phe1134Ser Single submitter ⚠
p.Phe227Tyr Single submitter ⚠
p.Phe668Ser Single submitter ⚠
p.Pro1360Ala Single submitter ⚠
p.Pro1360His Single submitter ⚠
p.Pro146Ser Single submitter ⚠
p.Pro1532Ala Single submitter ⚠
p.Pro422His Single submitter ⚠
p.Pro422Leu Single submitter ⚠
p.Pro467Ser Single submitter ⚠
p.Ser1000Arg Single submitter ⚠
p.Ser1026Asn Single submitter ⚠
p.Ser1026Ile Single submitter ⚠
p.Ser1045Phe Single submitter ⚠
p.Ser1050Leu Single submitter ⚠
p.Ser1329Pro Single submitter ⚠
p.Ser1496Thr Single submitter ⚠
p.Ser1590Ala Single submitter ⚠
p.Ser491Phe Single submitter ⚠
p.Ser616Gly Single submitter ⚠
p.Ser72Thr Single submitter ⚠
p.Thr1102Ile Single submitter ⚠
p.Thr1145Asn Single submitter ⚠
p.Thr1157Ile Single submitter ⚠
p.Thr132Pro Single submitter ⚠
p.Thr1340Ser Single submitter ⚠
p.Thr1370Met Single submitter ⚠
p.Thr1441Arg Single submitter ⚠
p.Thr1517Lys Single submitter ⚠
p.Thr1517Met Single submitter ⚠
p.Thr1581Ile Single submitter ⚠
p.Thr191Ala Single submitter ⚠
p.Thr295Ile Single submitter ⚠
p.Thr369Pro Single submitter ⚠
p.Thr446Ala Single submitter ⚠
p.Thr642Ile Single submitter ⚠
p.Thr643Ser Single submitter ⚠
p.Thr772Ile Single submitter ⚠
p.Thr793Ile Single submitter ⚠
p.Thr968Ile Single submitter ⚠
p.Thr992Pro Single submitter ⚠
p.Tyr1053Cys Single submitter ⚠
p.Tyr394Cys Single submitter ⚠
p.Tyr423Phe Single submitter ⚠
p.Tyr541Cys Single submitter ⚠
p.Tyr708His Single submitter ⚠
p.Tyr79Cys Single submitter ⚠
p.Val1095Ala Single submitter ⚠
p.Val1176Leu Single submitter ⚠
p.Val1276Ile Single submitter ⚠
p.Val1377Met Single submitter ⚠
p.Val1553Ile Single submitter ⚠
p.Val1553Leu Single submitter ⚠
p.Val320Met Single submitter ⚠
p.Val532Leu Single submitter ⚠
p.Val532Phe Single submitter ⚠
p.Val54Ala Single submitter ⚠
p.Val560Ile Single submitter ⚠
p.Val573Met Single submitter ⚠
p.Val67Leu Single submitter ⚠
p.Val684Met Single submitter ⚠
p.Val745Ile Single submitter ⚠
p.Val77Ala Single submitter ⚠
p.Val8Met Single submitter ⚠