AHCTF1 — 309 ClinVar variants

All ClinVar germline AHCTF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 279 flagged for review →

29 Likely benign · 280 Uncertain significance

Full AHCTF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 279

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 211

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 211

Predictors split 68

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

All AHCTF1 variants

Likely benign 29

p.Ala1262Thr Single submitter
p.Ala1483= Single submitter
p.Ala1483Val Single submitter
p.Ala2190Val Single submitter
p.Arg1149Ser Single submitter
p.Arg1873Lys Single submitter
p.Arg887= Single submitter
p.Asn1748= Single submitter
p.Asn178Ser Single submitter
p.Asn2169Ser Single submitter
p.Asn74Ser Single submitter
p.Asp1922Gly Single submitter
p.Gln1798Glu Single submitter
p.Gln264Arg Single submitter
p.Gln898= Single submitter
p.Glu1133Gly Single submitter
p.Glu1253Lys Single submitter
p.His1934Arg Single submitter
p.Ile1472Val Single submitter
p.Ile1704Val Single submitter
p.Ile775Val Single submitter
p.Leu1330Phe Single submitter ⚠
p.Leu190Val Single submitter
p.Met1689Val Single submitter
p.Met1967Thr Single submitter
p.Pro1443Ser Single submitter
p.Ser1132Leu Single submitter
p.Ser1272Asn Single submitter
p.Thr219Ser Single submitter

Uncertain significance 280

c.-8+263C>G Single submitter
p.Ala1247Thr Single submitter ⚠
p.Ala1346Val Single submitter ⚠
p.Ala1392Val Single submitter ⚠
p.Ala1537Val Single submitter ⚠
p.Ala1667Val Single submitter ⚠
p.Ala1763Gly Single submitter ⚠
p.Ala195Pro Single submitter ⚠
p.Ala2088Thr Single submitter ⚠
p.Ala22Thr Single submitter ⚠
p.Ala803Ser Single submitter ⚠
p.Ala836Thr Single submitter ⚠
p.Ala859Thr Single submitter ⚠
p.Arg1015Gln Single submitter ⚠
p.Arg1116Ser Single submitter ⚠
p.Arg1127Trp Single submitter ⚠
p.Arg1149His Single submitter ⚠
p.Arg1149Pro Single submitter ⚠
p.Arg1208Gly Single submitter ⚠
p.Arg1446Gly Single submitter ⚠
p.Arg1446Thr Single submitter ⚠
p.Arg1476Leu Single submitter ⚠
p.Arg1538Gly Single submitter ⚠
p.Arg1745Cys Single submitter ⚠
p.Arg1873Gly Single submitter ⚠
p.Arg1931Cys Single submitter ⚠
p.Arg1931His Single submitter ⚠
p.Arg1936Gly Single submitter ⚠
p.Arg1937Met Single submitter ⚠
p.Arg1937Thr Single submitter ⚠
p.Arg1974Cys Single submitter ⚠
p.Arg2006Gly Single submitter ⚠
p.Arg2068Cys Single submitter ⚠
p.Arg206Lys Single submitter ⚠
p.Arg2083Gly Single submitter ⚠
p.Arg2100Gln Single submitter ⚠
p.Arg2192Leu Single submitter ⚠
p.Arg2262Cys Single submitter ⚠
p.Arg2262His Single submitter ⚠
p.Arg280Gln Single submitter ⚠
p.Arg361Gln Single submitter ⚠
p.Arg520Gln Single submitter ⚠
p.Arg581Leu Single submitter ⚠
p.Arg706Cys Single submitter ⚠
p.Arg735Gln Single submitter ⚠
p.Arg897Gln Single submitter ⚠
p.Arg897Trp Single submitter ⚠
p.Arg961Cys Single submitter ⚠
p.Arg961His Single submitter ⚠
p.Arg982Cys Single submitter ⚠
p.Arg989Thr Single submitter ⚠
p.Asn1379Ser Single submitter ⚠
p.Asn1450Ser Single submitter ⚠
p.Asn1539Asp Single submitter ⚠
p.Asn1634Ser Single submitter ⚠
p.Asn1881Asp Single submitter ⚠
p.Asn1916His Single submitter ⚠
p.Asn2019Ser Single submitter ⚠
p.Asn2167Asp Single submitter ⚠
p.Asn2169Lys Single submitter ⚠
p.Asn424Ser Single submitter ⚠
p.Asn632His Single submitter ⚠
p.Asn695Lys Single submitter ⚠
p.Asn695Ser Single submitter ⚠
p.Asn789Lys Single submitter ⚠
p.Asn963Ser Single submitter ⚠
p.Asn977Asp Single submitter ⚠
p.Asp1459Gly Single submitter ⚠
p.Asp1532His Single submitter ⚠
p.Asp1912Val Single submitter ⚠
p.Asp1927Gly Single submitter ⚠
p.Asp241Asn Single submitter ⚠
p.Asp26His Single submitter ⚠
p.Asp3Val Single submitter ⚠
p.Asp685Gly Single submitter ⚠
p.Asp828Asn Single submitter ⚠
p.Asp875Asn Single submitter ⚠
p.Cys425Gly Single submitter ⚠
p.Gln1112Arg Single submitter ⚠
p.Gln1405Arg Single submitter ⚠
p.Gln1649Arg Single submitter ⚠
p.Gln179Glu Single submitter ⚠
p.Gln1820Glu Single submitter ⚠
p.Gln1962Glu Single submitter ⚠
p.Gln259Lys Single submitter ⚠
p.Gln386Glu Single submitter ⚠
p.Gln496Arg Single submitter ⚠
p.Gln619Lys Single submitter ⚠
p.Gln7Arg Single submitter ⚠
p.Glu1133Val Single submitter ⚠
p.Glu1235Asp Single submitter ⚠
p.Glu1393Gln Single submitter ⚠
p.Glu1433Gly Single submitter ⚠
p.Glu1433Lys Single submitter ⚠
p.Glu1475Lys Single submitter ⚠
p.Glu1488Lys Single submitter ⚠
p.Glu1526Lys Single submitter ⚠
p.Glu1544Gln Single submitter ⚠
p.Glu1600Gly Single submitter ⚠
p.Glu1623Gly Single submitter ⚠
p.Glu1624Gly Single submitter ⚠
p.Glu1781Asp Single submitter ⚠
p.Glu1817Ala Single submitter ⚠
p.Glu1817Lys Single submitter ⚠
p.Glu2053Gly Single submitter ⚠
p.Glu2082Gln Single submitter ⚠
p.Glu2208Gly Single submitter ⚠
p.Glu543Lys Single submitter ⚠
p.Glu546Asp Single submitter ⚠
p.Glu855Lys Single submitter ⚠
p.Glu918Lys Single submitter ⚠
p.Gly1495Val Single submitter ⚠
p.Gly507Ser Single submitter ⚠
p.His1171Arg Single submitter ⚠
p.His1171Gln Single submitter ⚠
p.His135Arg Single submitter ⚠
p.His820Tyr Single submitter ⚠
p.His843Arg Single submitter ⚠
p.His856Arg Single submitter ⚠
p.His856Asn Single submitter ⚠
p.His899Tyr Single submitter ⚠
p.Ile1013Thr Single submitter ⚠
p.Ile1089Thr Single submitter ⚠
p.Ile129Val Single submitter ⚠
p.Ile132Val Single submitter ⚠
p.Ile1560Val Single submitter ⚠
p.Ile1693Ser Single submitter ⚠
p.Ile1697Val Single submitter ⚠
p.Ile1789Met Single submitter ⚠
p.Ile1875Thr Single submitter ⚠
p.Ile1932Asn Single submitter ⚠
p.Ile2153Val Single submitter ⚠
p.Ile357Val Single submitter ⚠
p.Ile445Met Single submitter ⚠
p.Ile448Val Single submitter ⚠
p.Ile514Thr Single submitter ⚠
p.Ile725Val Single submitter ⚠
p.Ile804Val Single submitter ⚠
p.Ile818Val Single submitter ⚠
p.Ile996Met Single submitter ⚠
p.Ile996Val Single submitter ⚠
p.Leu1144Ser Single submitter ⚠
p.Leu1347Ile Single submitter ⚠
p.Leu1347Pro Single submitter ⚠
p.Leu1457Phe Single submitter ⚠
p.Leu145Val Single submitter ⚠
p.Leu2084Trp Single submitter ⚠
p.Leu2224Val Single submitter ⚠
p.Leu244Val Single submitter ⚠
p.Leu503Val Single submitter ⚠
p.Leu522Phe Single submitter ⚠
p.Leu558Val Single submitter ⚠
p.Leu584Phe Single submitter ⚠
p.Lys1017Thr Single submitter ⚠
p.Lys1109Glu Single submitter ⚠
p.Lys1183Glu Single submitter ⚠
p.Lys1375Ile Single submitter ⚠
p.Lys1571Glu Single submitter ⚠
p.Lys1616Glu Single submitter ⚠
p.Lys1653Arg Single submitter ⚠
p.Lys1780Glu Single submitter ⚠
p.Lys1869Glu Single submitter ⚠
p.Lys1905Glu Single submitter ⚠
p.Lys1920Thr Single submitter ⚠
p.Lys2130Arg Single submitter ⚠
p.Lys2199Glu Single submitter ⚠
p.Lys2207Glu Single submitter ⚠
p.Lys2234Asn Single submitter ⚠
p.Lys394Arg Single submitter ⚠
p.Lys42Glu Single submitter ⚠
p.Lys738Thr Single submitter ⚠
p.Met1689Ile Single submitter ⚠
p.Met1689Lys Single submitter ⚠
p.Met1726Val Single submitter ⚠
p.Met1967Lys Single submitter ⚠
p.Met339Thr Single submitter ⚠
p.Met784Thr Single submitter ⚠
p.Met851Leu Single submitter ⚠
p.Phe1102Cys Single submitter ⚠
p.Phe638Cys Single submitter ⚠
p.Pro1040Arg Single submitter ⚠
p.Pro1094Ser Single submitter ⚠
p.Pro1099Thr Single submitter ⚠
p.Pro1126Arg Single submitter ⚠
p.Pro1176Ser Single submitter ⚠
p.Pro1211Ser Single submitter ⚠
p.Pro1219Ser Single submitter ⚠
p.Pro1223Leu Single submitter ⚠
p.Pro1325Arg Single submitter ⚠
p.Pro1327Leu Single submitter ⚠
p.Pro1403Ser Single submitter ⚠
p.Pro1429Ser Single submitter ⚠
p.Pro147Leu Single submitter ⚠
p.Pro1504Thr Single submitter ⚠
p.Pro1605Leu Single submitter ⚠
p.Pro1852Leu Single submitter ⚠
p.Pro2108Leu Single submitter ⚠
p.Pro2213Arg Single submitter ⚠
p.Pro464Leu Single submitter ⚠
p.Pro984Arg Single submitter ⚠
p.Ser1074Thr Single submitter ⚠
p.Ser10Arg Single submitter ⚠
p.Ser1155Leu Single submitter ⚠
p.Ser1188Leu Single submitter ⚠
p.Ser1314Pro Single submitter ⚠
p.Ser141Arg Single submitter ⚠
p.Ser1533Ala Single submitter ⚠
p.Ser1611Ala Single submitter ⚠
p.Ser1629Asn Single submitter ⚠
p.Ser1629Gly Single submitter ⚠
p.Ser1629Thr Single submitter ⚠
p.Ser1686Leu Single submitter ⚠
p.Ser1806Phe Single submitter ⚠
p.Ser1925Thr Single submitter ⚠
p.Ser1926Thr Single submitter ⚠
p.Ser1988Pro Single submitter ⚠
p.Ser1996Arg Single submitter ⚠
p.Ser2017Ile Single submitter ⚠
p.Ser2039Thr Single submitter ⚠
p.Ser2101Phe Single submitter ⚠
p.Ser2123Pro Single submitter ⚠
p.Ser2145Leu Single submitter ⚠
p.Ser262Thr Single submitter ⚠
p.Ser300Arg Single submitter ⚠
p.Ser379Gly Single submitter ⚠
p.Ser381Ala Single submitter ⚠
p.Ser438Gly Single submitter ⚠
p.Ser485Leu Single submitter ⚠
p.Ser774Thr Single submitter ⚠
p.Thr1047Ala Single submitter ⚠
p.Thr1105Ala Single submitter ⚠
p.Thr1190Ser Single submitter ⚠
p.Thr1257Ala Single submitter ⚠
p.Thr1440Asn Single submitter ⚠
p.Thr1440Ser Single submitter ⚠
p.Thr1620Ile Single submitter ⚠
p.Thr1696Arg Single submitter ⚠
p.Thr1696Ser Single submitter ⚠
p.Thr1725Pro Single submitter ⚠
p.Thr1764Ala Single submitter ⚠
p.Thr1808Met Single submitter ⚠
p.Thr1895Met Single submitter ⚠
p.Thr2010Ala Single submitter ⚠
p.Thr2010Ile Single submitter ⚠
p.Thr2087Ile Single submitter ⚠
p.Thr2184Ile Single submitter ⚠
p.Thr2195Met Single submitter ⚠
p.Thr29Ile Single submitter ⚠
p.Thr493Ala Single submitter ⚠
p.Thr501Ala Single submitter ⚠
p.Thr587Met Single submitter ⚠
p.Thr768Ile Single submitter ⚠
p.Thr835Ala Single submitter ⚠
p.Thr9Ser Single submitter ⚠
p.Trp1269Arg Single submitter ⚠
p.Trp286Gly Single submitter ⚠
p.Trp806Arg Single submitter ⚠
p.Tyr109Phe Single submitter ⚠
p.Tyr1417Phe Single submitter ⚠
p.Tyr243Cys Single submitter ⚠
p.Tyr256His Single submitter ⚠
p.Tyr696Asn Single submitter ⚠
p.Tyr702Cys Single submitter ⚠
p.Tyr702His Single submitter ⚠
p.Val1189Phe Single submitter ⚠
p.Val120Ile Single submitter ⚠
p.Val1263Phe Single submitter ⚠
p.Val1496Leu Single submitter ⚠
p.Val1522Met Single submitter ⚠
p.Val1627Glu Single submitter ⚠
p.Val162Ile Single submitter ⚠
p.Val1829Leu Single submitter ⚠
p.Val189Gly Single submitter ⚠
p.Val1943Ile Single submitter ⚠
p.Val2022Ile Single submitter ⚠
p.Val2125Ile Single submitter ⚠
p.Val380Ile Single submitter ⚠
p.Val658Leu Single submitter ⚠
p.Val948Ile Single submitter ⚠
p.Arg1225Ter No assertion criteria strabismus