HEATR6 — 181 ClinVar variants

All ClinVar germline HEATR6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 165 flagged for review →

5 Likely benign · 176 Uncertain significance

Full HEATR6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 165

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 137

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

Predictors split 28

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

All HEATR6 variants

Likely benign 5

p.Ala753Val Single submitter
p.Arg1041Gln Single submitter
p.Asn1002Ser Single submitter
p.Pro1176Leu Single submitter
p.Pro361Ser Single submitter

Uncertain significance 176

p.Ala1003Val Single submitter ⚠
p.Ala1121Val Single submitter ⚠
p.Ala213Asp Single submitter ⚠
p.Ala238Ser Single submitter ⚠
p.Ala238Thr Single submitter ⚠
p.Ala264Ser Single submitter ⚠
p.Ala2Val Single submitter ⚠
p.Ala376Gly Single submitter ⚠
p.Ala39Pro Single submitter ⚠
p.Ala39Val Single submitter ⚠
p.Ala423Asp Single submitter ⚠
p.Ala529Thr Single submitter ⚠
p.Ala529Val Single submitter ⚠
p.Ala617Gly Single submitter ⚠
p.Ala677Val Single submitter ⚠
p.Ala733Gly Single submitter ⚠
p.Ala753Gly Single submitter ⚠
p.Ala77Val Single submitter ⚠
p.Ala860Val Single submitter ⚠
p.Ala950Ser Single submitter ⚠
p.Ala976Thr Single submitter ⚠
p.Ala979Thr Single submitter ⚠
p.Ala988Pro Single submitter
p.Arg1017His Single submitter ⚠
p.Arg1030Thr Single submitter ⚠
p.Arg1041Trp Single submitter ⚠
p.Arg16Gln Single submitter ⚠
p.Arg183Gly Single submitter ⚠
p.Arg250Gly Single submitter ⚠
p.Arg296Gln Single submitter ⚠
p.Arg310Gln Single submitter ⚠
p.Arg36Lys Single submitter ⚠
p.Arg420Leu Single submitter ⚠
p.Arg517Thr Single submitter ⚠
p.Arg572Cys Single submitter ⚠
p.Arg579His Single submitter
p.Arg655Gln Single submitter ⚠
p.Arg828His Single submitter ⚠
p.Arg836Gln Single submitter ⚠
p.Arg84Gln Single submitter ⚠
p.Arg912Gln Single submitter ⚠
p.Arg912Pro Single submitter ⚠
p.Asn150Ser Single submitter ⚠
p.Asn357Lys Single submitter ⚠
p.Asn545Asp Single submitter ⚠
p.Asn63Ile Single submitter ⚠
p.Asn773Tyr Single submitter ⚠
p.Asn91Tyr Single submitter ⚠
p.Asn927Lys Single submitter ⚠
p.Asn927Ser Single submitter ⚠
p.Asn975Ser Single submitter ⚠
p.Asp1118His Single submitter ⚠
p.Asp1148Glu Single submitter ⚠
p.Asp294Gly Single submitter ⚠
p.Asp500Gly Single submitter ⚠
p.Asp625His Single submitter ⚠
p.Asp824Gly Single submitter ⚠
p.Asp850Gly Single submitter ⚠
p.Asp895Val Single submitter ⚠
p.Cys1065Ser Single submitter ⚠
p.Cys1165Ser Single submitter ⚠
p.Cys131Arg Single submitter ⚠
p.Cys193Phe Single submitter
p.Cys793Trp Single submitter ⚠
p.Cys815Ser Single submitter ⚠
p.Gln130Arg Single submitter ⚠
p.Gln534His Single submitter ⚠
p.Gln940Arg Single submitter ⚠
p.Glu1115Lys Single submitter ⚠
p.Glu332Lys Single submitter ⚠
p.Glu355Lys Single submitter ⚠
p.Glu435Lys Single submitter ⚠
p.Glu452Asp Single submitter ⚠
p.Glu66Ala Single submitter ⚠
p.Glu73Lys Single submitter ⚠
p.Glu892Lys Single submitter ⚠
p.Glu892Val Single submitter ⚠
p.Glu967Gln Single submitter ⚠
p.Gly1156Asp Single submitter ⚠
p.Gly1177Arg Single submitter ⚠
p.Gly166Arg Single submitter ⚠
p.Gly241Cys Single submitter ⚠
p.Gly249Val Single submitter ⚠
p.Gly407Ser Single submitter ⚠
p.Gly487Ser Single submitter ⚠
p.Gly646Arg Single submitter ⚠
p.Gly714Glu Single submitter ⚠
p.Gly774Ser Single submitter ⚠
p.His102Asp Single submitter
p.His103Tyr Single submitter ⚠
p.His1123Gln Single submitter ⚠
p.His272Arg Single submitter ⚠
p.His573Asn Single submitter ⚠
p.Ile1018Ser Single submitter ⚠
p.Ile101Ser Single submitter ⚠
p.Ile1106Thr Single submitter ⚠
p.Ile229Asn Single submitter ⚠
p.Ile229Thr Single submitter ⚠
p.Ile242Thr Single submitter ⚠
p.Ile434Arg Single submitter ⚠
p.Ile484Val Single submitter ⚠
p.Ile861Leu Single submitter ⚠
p.Ile915Val Single submitter ⚠
p.Ile957Leu Single submitter ⚠
p.Leu1088Phe Single submitter ⚠
p.Leu1107Pro Single submitter
p.Leu194Arg Single submitter
p.Leu313Ser Single submitter ⚠
p.Leu37Phe Single submitter ⚠
p.Leu428Ile Single submitter ⚠
p.Leu453Phe Single submitter ⚠
p.Leu453Pro Single submitter ⚠
p.Leu466Phe Single submitter ⚠
p.Leu481Phe Single submitter ⚠
p.Leu524Trp Single submitter ⚠
p.Leu524Val Single submitter ⚠
p.Leu636Pro Single submitter ⚠
p.Leu78Val Single submitter ⚠
p.Leu829Phe Single submitter ⚠
p.Leu847Phe Single submitter ⚠
p.Leu936Arg Single submitter ⚠
p.Lys170Asn Single submitter ⚠
p.Lys436Arg Single submitter ⚠
p.Lys436Ile Single submitter ⚠
p.Lys541Gln Single submitter ⚠
p.Lys574Arg Single submitter ⚠
p.Met1101Ile Single submitter ⚠
p.Met408Leu Single submitter ⚠
p.Met766Ile Single submitter ⚠
p.Met863Thr Single submitter ⚠
p.Met970Val Single submitter ⚠
p.Phe1109Ser Single submitter ⚠
p.Phe898Leu Single submitter ⚠
p.Phe902Ser Single submitter ⚠
p.Phe949Val Single submitter
p.Pro1089Arg Single submitter ⚠
p.Pro15Leu Single submitter ⚠
p.Pro200Leu Single submitter ⚠
p.Pro282Ser Single submitter
p.Pro291Ser Single submitter ⚠
p.Pro760Leu Single submitter ⚠
p.Pro775His Single submitter ⚠
p.Pro87Leu Single submitter ⚠
p.Ser1025Phe Single submitter
p.Ser132Thr Single submitter ⚠
p.Ser337Asn Single submitter ⚠
p.Ser384Leu Single submitter ⚠
p.Ser395Arg Single submitter ⚠
p.Ser458Pro Single submitter ⚠
p.Ser76Thr Single submitter ⚠
p.Ser903Phe Single submitter ⚠
p.Ser926Asn Single submitter ⚠
p.Ser998Pro Single submitter ⚠
p.Ser9Trp Single submitter ⚠
p.Thr1119Ser Single submitter ⚠
p.Thr283Met Single submitter ⚠
p.Thr348Lys Single submitter ⚠
p.Thr450Met Single submitter ⚠
p.Thr535Asn Single submitter ⚠
p.Thr639Lys Single submitter ⚠
p.Thr787Asn Single submitter ⚠
p.Thr787Ile Single submitter ⚠
p.Thr834Ala Single submitter ⚠
p.Thr886Ile Single submitter
p.Thr893Ile Single submitter ⚠
p.Trp626Arg Single submitter ⚠
p.Trp626Leu Single submitter ⚠
p.Val1066Gly Single submitter ⚠
p.Val181Asp Single submitter
p.Val510Ile Single submitter ⚠
p.Val536Ile Single submitter ⚠
p.Val576Gly Single submitter ⚠
p.Val641Ile Single submitter ⚠
p.Val7Leu Single submitter ⚠
p.Val80Phe Single submitter ⚠
p.Val872Ala Single submitter ⚠