HEATR1 — 324 ClinVar variants

All ClinVar germline HEATR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 263 flagged for review →

11 Benign · 27 Likely benign · 286 Uncertain significance

Full HEATR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 263

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 217

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 217

Predictors split 46

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

All HEATR1 variants

Benign 11

p.His360Arg Multiple submitters
p.Leu1266= Multiple submitters
p.Leu459Ile Multiple submitters
p.Leu681Val Multiple submitters
p.Lys157= Multiple submitters
p.Ser946Gly Multiple submitters
c.5754+6G>C Single submitter
c.6238-9C>T Single submitter
c.6347-3dup Single submitter
p.Ile727Thr Single submitter
p.Thr721= Single submitter

Likely benign 27

c.4770+7G>T Single submitter
p.Ala1097Thr Single submitter
p.Asn1528Ser Single submitter
p.Asn1630Asp Single submitter
p.Asn611Ser Single submitter
p.Asn697Ser Single submitter
p.Asn838Ser Single submitter
p.Cys1988= Single submitter
p.Gln940His Single submitter
p.Glu641Lys Single submitter
p.Gly512Ser Single submitter
p.Ile1366Val Single submitter
p.Ile1417Val Single submitter
p.Ile179Thr Single submitter
p.Ile179Val Single submitter
p.Ile955Val Single submitter
p.Leu432= Single submitter
p.Lys1272Arg Single submitter
p.Lys376Arg Single submitter
p.Pro1079= Single submitter
p.Pro930= Single submitter
p.Ser1908= Single submitter
p.Ser387= Single submitter
p.Thr1636Lys Single submitter
p.Thr1695Ala Single submitter
p.Val690Met Single submitter
p.Val931Ile Single submitter

Uncertain significance 286

p.Ala1097Val Single submitter ⚠
p.Ala1117Asp Single submitter ⚠
p.Ala1484Thr Single submitter ⚠
p.Ala1579Thr Single submitter ⚠
p.Ala1701Val Single submitter ⚠
p.Ala1825Thr Single submitter ⚠
p.Ala1940Val Single submitter ⚠
p.Ala1963Val Single submitter ⚠
p.Ala2050Thr Single submitter ⚠
p.Ala2092Gly Single submitter ⚠
p.Ala211Val Single submitter ⚠
p.Ala381Gly Single submitter ⚠
p.Ala397Ser Single submitter ⚠
p.Ala44Thr Single submitter ⚠
p.Ala477Thr Single submitter ⚠
p.Ala492Pro Single submitter ⚠
p.Ala660Thr Single submitter ⚠
p.Arg1162Gln Single submitter ⚠
p.Arg1206Ser Single submitter ⚠
p.Arg1336Cys Single submitter ⚠
p.Arg1511Gln Single submitter ⚠
p.Arg1578Cys Single submitter
p.Arg1578His Single submitter ⚠
p.Arg1617Cys Single submitter ⚠
p.Arg1617His Single submitter
p.Arg1640Cys Single submitter ⚠
p.Arg1640His Single submitter ⚠
p.Arg1667Ser Single submitter ⚠
p.Arg1878Gln Single submitter
p.Arg2040Gln Single submitter ⚠
p.Asn1026Asp Single submitter ⚠
p.Asn1026Ser Single submitter ⚠
p.Asn1076Ile Single submitter ⚠
p.Asn1140Tyr Single submitter ⚠
p.Asn1157Ser Single submitter ⚠
p.Asn1322Ser Single submitter ⚠
p.Asn1333Ile Single submitter ⚠
p.Asn1488Ser Single submitter ⚠
p.Asn1592Ser Single submitter ⚠
p.Asn1666Asp Single submitter
p.Asn1694Asp Single submitter ⚠
p.Asn1894Asp Single submitter ⚠
p.Asn280Ser Single submitter ⚠
p.Asn556Asp Single submitter ⚠
p.Asp1017Glu Single submitter ⚠
p.Asp1279Gly Single submitter ⚠
p.Asp1443Glu Single submitter ⚠
p.Asp1586Asn Single submitter
p.Asp1885Asn Single submitter ⚠
p.Asp1885His Single submitter ⚠
p.Asp1927His Single submitter ⚠
p.Asp1964Asn Single submitter ⚠
p.Asp2058Asn Single submitter ⚠
p.Asp236His Single submitter ⚠
p.Asp24His Single submitter ⚠
p.Asp342Asn Single submitter ⚠
p.Asp785Glu Single submitter ⚠
p.Asp824Glu Single submitter ⚠
p.Asp841Asn Single submitter ⚠
p.Asp969Asn Single submitter
p.Asp969Gly Single submitter ⚠
p.Cys1717Tyr Single submitter ⚠
p.Cys325Arg Single submitter ⚠
p.Gln1264His Single submitter ⚠
p.Gln128Arg Single submitter ⚠
p.Gln1299Leu Single submitter ⚠
p.Gln1668His Single submitter ⚠
p.Gln1968Glu Single submitter ⚠
p.Gln2051Arg Single submitter ⚠
p.Gln267Arg Single submitter ⚠
p.Gln267His Single submitter
p.Gln457Lys Single submitter ⚠
p.Gln598Arg Single submitter ⚠
p.Gln64Glu Single submitter ⚠
p.Gln7Arg Single submitter ⚠
p.Glu1239Lys Single submitter ⚠
p.Glu1373Lys Single submitter ⚠
p.Glu1435Gly Single submitter ⚠
p.Glu1435Lys Single submitter ⚠
p.Glu1552Gly Single submitter ⚠
p.Glu1552Val Single submitter
p.Glu1658Asp Single submitter ⚠
p.Glu1684Asp Single submitter ⚠
p.Glu1769Gly Single submitter ⚠
p.Glu2034Gln Single submitter ⚠
p.Glu2097Asp Single submitter ⚠
p.Glu25Lys Single submitter ⚠
p.Glu368Ala Single submitter ⚠
p.Glu380Lys Single submitter ⚠
p.Glu423Gln Single submitter ⚠
p.Glu542Gly Single submitter ⚠
p.Glu741Ala Single submitter ⚠
p.Gly1098Glu Single submitter ⚠
p.Gly1309Asp Single submitter ⚠
p.Gly1556Ser Single submitter ⚠
p.Gly2032Ala Single submitter ⚠
p.Gly336Glu Single submitter ⚠
p.Gly874Asp Single submitter ⚠
p.Gly928Glu Single submitter ⚠
p.Gly947Arg Single submitter ⚠
p.His124Gln Single submitter ⚠
p.His1301Tyr Single submitter
p.His1321Gln Single submitter ⚠
p.His323Tyr Single submitter ⚠
p.His547Gln Single submitter ⚠
p.His754Leu Single submitter ⚠
p.Ile1084Thr Single submitter ⚠
p.Ile1086Val Single submitter ⚠
p.Ile1102Phe Single submitter ⚠
p.Ile118Val Single submitter ⚠
p.Ile1277Leu Single submitter ⚠
p.Ile1326Met Single submitter ⚠
p.Ile132Val Single submitter ⚠
p.Ile1358Thr Single submitter ⚠
p.Ile1460Leu Single submitter ⚠
p.Ile1481Phe Single submitter ⚠
p.Ile1542Leu Single submitter ⚠
p.Ile1804Thr Single submitter ⚠
p.Ile1826Val Single submitter ⚠
p.Ile1896Thr Single submitter
p.Ile1943Val Single submitter ⚠
p.Ile246Met Single submitter ⚠
p.Ile287Val Single submitter ⚠
p.Ile331Thr Single submitter ⚠
p.Ile358Val Single submitter ⚠
p.Ile39Met Single submitter ⚠
p.Ile518Val Single submitter ⚠
p.Ile588Met Single submitter ⚠
p.Ile737Leu Single submitter ⚠
p.Ile744Phe Single submitter ⚠
p.Ile956Thr Single submitter ⚠
p.Leu1004fs Single submitter
p.Leu1004Phe Single submitter ⚠
p.Leu106Val Single submitter ⚠
p.Leu1230Phe Single submitter ⚠
p.Leu1471Ile Single submitter ⚠
p.Leu1594Ser Single submitter ⚠
p.Leu186Phe Single submitter ⚠
p.Leu1991Arg Single submitter ⚠
p.Leu2004Pro Single submitter ⚠
p.Leu2031Arg Single submitter ⚠
p.Leu2045Val Single submitter ⚠
p.Leu2089Val Single submitter ⚠
p.Leu346Val Single submitter ⚠
p.Leu557Phe Single submitter ⚠
p.Leu595Phe Single submitter ⚠
p.Leu733Phe Single submitter ⚠
p.Leu740His Single submitter ⚠
p.Leu90Met Single submitter ⚠
p.Lys1184Asn Single submitter ⚠
p.Lys1252Arg Single submitter ⚠
p.Lys1348Glu Single submitter
p.Lys1483Glu Single submitter ⚠
p.Lys1489Asn Single submitter ⚠
p.Lys1508Gln Single submitter ⚠
p.Lys1575Asn Single submitter ⚠
p.Lys175Arg Single submitter ⚠
p.Lys175Ile Single submitter ⚠
p.Lys1827Gln Single submitter ⚠
p.Lys1827Glu Single submitter ⚠
p.Lys1828Glu Single submitter ⚠
p.Lys184Glu Single submitter ⚠
p.Lys1856Glu Single submitter ⚠
p.Lys1906Arg Single submitter ⚠
p.Lys1906Asn Single submitter ⚠
p.Lys1930Glu Single submitter ⚠
p.Lys1973Arg Single submitter ⚠
p.Lys385Glu Single submitter ⚠
p.Lys510Glu Single submitter ⚠
p.Lys620Arg Single submitter ⚠
p.Lys627Glu Single submitter ⚠
p.Lys735Glu Single submitter ⚠
p.Lys736Arg Single submitter ⚠
p.Lys739Glu Single submitter ⚠
p.Lys886Glu Single submitter ⚠
p.Lys932Glu Single submitter ⚠
p.Lys988Glu Single submitter ⚠
p.Met1019Val Single submitter ⚠
p.Met1297Ile Single submitter ⚠
p.Met1335Val Single submitter ⚠
p.Met1464Val Single submitter ⚠
p.Met1737Leu Single submitter ⚠
p.Met1744Val Single submitter ⚠
p.Met263Val Single submitter ⚠
p.Met350Leu Single submitter ⚠
p.Met680Val Single submitter ⚠
p.Phe1114Leu Single submitter ⚠
p.Phe1520Ser Single submitter ⚠
p.Phe1600Leu Single submitter ⚠
p.Phe541Ser Single submitter
p.Phe723Ser Single submitter
p.Phe725Leu Single submitter ⚠
p.Phe796Cys Single submitter
p.Phe833Leu Single submitter ⚠
p.Phe866Ile Single submitter ⚠
p.Phe866Leu Single submitter ⚠
p.Pro1011Ser Single submitter
p.Pro1036Arg Single submitter ⚠
p.Pro1049Ser Single submitter ⚠
p.Pro1079Leu Single submitter ⚠
p.Pro1223His Single submitter ⚠
p.Pro1274Thr Single submitter ⚠
p.Pro1298Leu Single submitter
p.Pro1391Thr Single submitter ⚠
p.Pro1397Ser Single submitter ⚠
p.Pro1540Ser Single submitter ⚠
p.Pro172Leu Single submitter ⚠
p.Pro2047Ser Single submitter ⚠
p.Pro207Leu Single submitter ⚠
p.Pro345Arg Single submitter ⚠
p.Pro427Thr Single submitter ⚠
p.Pro493Arg Single submitter ⚠
p.Pro677Thr Single submitter ⚠
p.Pro68Leu Single submitter ⚠
p.Pro880Ser Single submitter ⚠
p.Pro951Leu Single submitter ⚠
p.Ser102Leu Single submitter ⚠
p.Ser1149Gly Single submitter ⚠
p.Ser1195Phe Single submitter ⚠
p.Ser1257Gly Single submitter ⚠
p.Ser1295Leu Single submitter ⚠
p.Ser1369Ala Single submitter ⚠
p.Ser1449Pro Single submitter ⚠
p.Ser1455Arg Single submitter ⚠
p.Ser1517Leu Single submitter ⚠
p.Ser16Ile Single submitter ⚠
p.Ser1882Cys Single submitter ⚠
p.Ser1882Phe Single submitter ⚠
p.Ser1981Ala Single submitter ⚠
p.Ser2012Asn Single submitter ⚠
p.Ser2060Cys Single submitter ⚠
p.Ser226Leu Single submitter ⚠
p.Ser315Asn Single submitter ⚠
p.Ser516Cys Single submitter ⚠
p.Ser549Ile Single submitter ⚠
p.Ser555Pro Single submitter ⚠
p.Ser61Phe Single submitter ⚠
p.Ser786Leu Single submitter ⚠
p.Ser805Cys Single submitter ⚠
p.Ser868fs Single submitter
p.Ser929Asn Single submitter ⚠
p.Ser968Leu Single submitter ⚠
p.Thr1050Ala Single submitter ⚠
p.Thr1092Ala Single submitter ⚠
p.Thr1425Ala Single submitter ⚠
p.Thr1480Asn Single submitter ⚠
p.Thr1724Ile Single submitter ⚠
p.Thr177Pro Single submitter
p.Thr1892Met Single submitter ⚠
p.Thr2073Met Single submitter ⚠
p.Thr2128Asn Single submitter ⚠
p.Thr261Ala Single submitter ⚠
p.Thr273Asn Single submitter ⚠
p.Thr273Ile Single submitter ⚠
p.Thr384Lys Single submitter ⚠
p.Thr553Met Single submitter ⚠
p.Trp1447Gly Single submitter
p.Trp2062Arg Single submitter ⚠
p.Trp572fs Single submitter
p.Trp768Ser Single submitter ⚠
p.Tyr1341Ter Single submitter
p.Tyr1557Cys Single submitter ⚠
p.Tyr1585Cys Single submitter ⚠
p.Tyr1672Cys Single submitter
p.Tyr2143Cys Single submitter ⚠
p.Tyr771Cys Single submitter ⚠
p.Tyr771His Single submitter ⚠
p.Tyr972Cys Single submitter ⚠
p.Val1199Ile Single submitter ⚠
p.Val1285Met Single submitter ⚠
p.Val1372Ile Single submitter ⚠
p.Val1400Ile Single submitter ⚠
p.Val1652Met Single submitter ⚠
p.Val1755Ala Single submitter ⚠
p.Val1767Ile Single submitter ⚠
p.Val200Leu Single submitter ⚠
p.Val2041Gly Single submitter ⚠
p.Val225Leu Single submitter ⚠
p.Val600Ala Single submitter ⚠
p.Val712Ile Single submitter ⚠
p.Val765Glu Single submitter ⚠
p.Val781Glu Single submitter ⚠
p.Val783Met Single submitter ⚠
p.Val787Phe Single submitter ⚠
p.Val790Ile Single submitter ⚠
p.Val885Met Single submitter ⚠