HIPK3 — 145 ClinVar variants

All ClinVar germline HIPK3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 132 flagged for review →

1 Benign · 4 Likely benign · 140 Uncertain significance

Full HIPK3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 132

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 122

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

Predictors split 10

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

All HIPK3 variants

Benign 1

p.Val474Ile Multiple submitters

Likely benign 4

p.Ala475Val Single submitter
p.Lys435Arg Single submitter
p.Ser945Gly Single submitter
p.Val745Ile Single submitter

Uncertain significance 140

c.3171+4T>G Single submitter
p.Ala1104Asp Single submitter ⚠
p.Ala111Val Single submitter ⚠
p.Ala1138Val Single submitter ⚠
p.Ala2Thr Single submitter ⚠
p.Ala379Val Single submitter ⚠
p.Ala475Thr Single submitter ⚠
p.Ala510Glu Single submitter ⚠
p.Ala510Thr Single submitter ⚠
p.Ala580Thr Single submitter ⚠
p.Ala803Thr Single submitter ⚠
p.Ala833Thr Single submitter ⚠
p.Ala983Asp Single submitter ⚠
p.Arg1076Thr Single submitter
p.Arg113Gln Single submitter ⚠
p.Arg1144Ile Single submitter
p.Arg1171Cys Single submitter ⚠
p.Arg1171His Single submitter ⚠
p.Arg124Gln Single submitter ⚠
p.Arg236Cys Single submitter ⚠
p.Arg268His Single submitter ⚠
p.Arg268Leu Single submitter ⚠
p.Arg335Trp Single submitter
p.Arg42Gln Single submitter ⚠
p.Arg647Trp Single submitter ⚠
p.Arg678Lys Single submitter ⚠
p.Arg72Gln Single submitter ⚠
p.Arg842Ile Single submitter ⚠
p.Arg854Gln Single submitter ⚠
p.Arg907Trp Single submitter ⚠
p.Arg933Ile Single submitter ⚠
p.Asn1013Asp Single submitter ⚠
p.Asn1013Ser Single submitter ⚠
p.Asn1098Ser Single submitter ⚠
p.Asn650Ser Single submitter ⚠
p.Asn796Tyr Single submitter ⚠
p.Asn798Ser Single submitter ⚠
p.Asp284Glu Single submitter ⚠
p.Asp332Asn Single submitter
p.Asp344Gly Single submitter ⚠
p.Asp473Glu Single submitter ⚠
p.Asp713Asn Single submitter ⚠
p.Cys766Gly Single submitter ⚠
p.Cys820Tyr Single submitter ⚠
p.Cys837Ser Single submitter ⚠
p.Cys899Arg Single submitter ⚠
p.Gln413Arg Single submitter ⚠
p.Gln421His Single submitter ⚠
p.Gln632His Single submitter ⚠
p.Gln688Lys Single submitter ⚠
p.Gln743His Single submitter ⚠
p.Gln767Leu Single submitter ⚠
p.Glu484Gly Single submitter ⚠
p.Glu779Val Single submitter ⚠
p.Glu817Lys Single submitter ⚠
p.Glu889Gln Single submitter ⚠
p.Gly1038Asp Single submitter ⚠
p.Gly1038Val Single submitter ⚠
p.Gly110Arg Single submitter ⚠
p.Gly204Ala Single submitter ⚠
p.Gly586Arg Single submitter ⚠
p.Gly610Val Single submitter ⚠
p.Gly639Asp Single submitter ⚠
p.Gly959Val Single submitter ⚠
p.His1094Arg Single submitter ⚠
p.His1190Tyr Single submitter ⚠
p.His350Arg Single submitter ⚠
p.His452Arg Single submitter ⚠
p.His544Tyr Single submitter ⚠
p.His709Tyr Single submitter ⚠
p.His74Pro Single submitter ⚠
p.His960Arg Single submitter ⚠
p.Ile1186Val Single submitter ⚠
p.Ile149Met Single submitter ⚠
p.Ile244Met Single submitter ⚠
p.Ile467Val Single submitter ⚠
p.Ile631Val Single submitter ⚠
p.Ile646Met Single submitter ⚠
p.Ile646Val Single submitter ⚠
p.Ile870Val Single submitter ⚠
p.Ile95Val Single submitter ⚠
p.Leu1092Val Single submitter ⚠
p.Leu1127Phe Single submitter ⚠
p.Leu1209Pro Single submitter
p.Leu303Phe Single submitter ⚠
p.Leu330Val Single submitter ⚠
p.Leu489Ser Single submitter
p.Leu520Val Single submitter ⚠
p.Leu566Phe Single submitter ⚠
p.Leu739Phe Single submitter ⚠
p.Lys58Glu Single submitter ⚠
p.Met153Val Single submitter ⚠
p.Met382Ile Single submitter ⚠
p.Met481Val Single submitter ⚠
p.Met527Thr Single submitter ⚠
p.Met546Thr Single submitter ⚠
p.Phe1202Cys Single submitter ⚠
p.Phe804Cys Single submitter ⚠
p.Phe804Leu Single submitter ⚠
p.Pro1170Leu Single submitter ⚠
p.Pro1170Thr Single submitter ⚠
p.Pro397Leu Single submitter ⚠
p.Pro653Ala Single submitter ⚠
p.Pro67Leu Single submitter ⚠
p.Pro692Ser Single submitter ⚠
p.Pro692Thr Single submitter ⚠
p.Pro71Ser Single submitter ⚠
p.Pro729Leu Single submitter ⚠
p.Pro914Ala Single submitter ⚠
p.Ser1087Thr Single submitter ⚠
p.Ser1124Leu Single submitter ⚠
p.Ser139Asn Single submitter ⚠
p.Ser315Thr Single submitter ⚠
p.Ser362Pro Single submitter ⚠
p.Ser429Thr Single submitter ⚠
p.Ser60Asn Single submitter ⚠
p.Ser643Asn Single submitter ⚠
p.Ser746Ile Single submitter ⚠
p.Ser81Asn Single submitter ⚠
p.Ser829Thr Single submitter ⚠
p.Ser882Phe Single submitter ⚠
p.Ser921Asn Single submitter ⚠
p.Ser952Phe Single submitter ⚠
p.Ser957Phe Single submitter ⚠
p.Thr1083Ala Single submitter ⚠
p.Thr1117Ala Single submitter ⚠
p.Thr1151Ala Single submitter ⚠
p.Thr1207Ser Single submitter ⚠
p.Thr43Ile Single submitter ⚠
p.Thr519Ile Single submitter
p.Thr579Ile Single submitter ⚠
p.Thr57Ser Single submitter ⚠
p.Thr623Arg Single submitter ⚠
p.Thr973Ala Single submitter ⚠
p.Thr985Lys Single submitter ⚠
p.Trp1068Leu Single submitter ⚠
p.Tyr256Cys Single submitter ⚠
p.Val185Ile Single submitter ⚠
p.Val34Ala Single submitter ⚠
p.Val867Leu Single submitter ⚠