ANKK1 — 158 ClinVar variants
All ClinVar germline ANKK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 108 flagged for review →
16 Benign · 1 Benign/Likely benign · 27 Likely benign · 114 Uncertain significance
Full ANKK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 108
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 76
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ANKK1 p.Ala485Ser Uncertain significance Single submitter
- ANKK1 p.Ala716Val Uncertain significance Single submitter
- ANKK1 p.Ala752Thr Uncertain significance Single submitter
- ANKK1 p.Arg175Gln Uncertain significance Single submitter
- ANKK1 p.Arg175Trp Uncertain significance Single submitter
- ANKK1 p.Arg26Ser Uncertain significance Single submitter
- ANKK1 p.Arg295His Uncertain significance Single submitter
- ANKK1 p.Arg295Ser Uncertain significance Single submitter
- ANKK1 p.Arg339Gln Uncertain significance Single submitter
- ANKK1 p.Arg43Cys Uncertain significance Single submitter
- ANKK1 p.Arg43Gly Uncertain significance Single submitter
- ANKK1 p.Arg459Cys Uncertain significance Single submitter
- ANKK1 p.Arg483His Uncertain significance Single submitter
- ANKK1 p.Arg537Gln Uncertain significance Single submitter
- ANKK1 p.Arg581Gly Uncertain significance Single submitter
- ANKK1 p.Arg581Ser Uncertain significance Single submitter
- ANKK1 p.Arg635His Uncertain significance Single submitter
- ANKK1 p.Asn422Lys Uncertain significance Single submitter
- ANKK1 p.Asn488Ser Uncertain significance Single submitter
- ANKK1 p.Asp19Glu Uncertain significance Single submitter
- ANKK1 p.Asp208Tyr Uncertain significance Single submitter
- ANKK1 p.Asp24Glu Uncertain significance Single submitter
- ANKK1 p.Asp262Asn Uncertain significance Single submitter
- ANKK1 p.Asp262Gly Uncertain significance Single submitter
- ANKK1 p.Asp405Glu Uncertain significance Single submitter
- ANKK1 p.Asp405Gly Uncertain significance Single submitter
- ANKK1 p.Asp440Glu Uncertain significance Single submitter
- ANKK1 p.Asp441Gly Uncertain significance Single submitter
- ANKK1 p.Asp486Glu Uncertain significance Single submitter
- ANKK1 p.Cys726Ser Uncertain significance Single submitter
- ANKK1 p.Gln342Leu Uncertain significance Single submitter
- ANKK1 p.Gln35His Uncertain significance Single submitter
- ANKK1 p.Gln38Leu Uncertain significance Single submitter
- ANKK1 p.Gln516His Uncertain significance Single submitter
- ANKK1 p.Gln523His Uncertain significance Single submitter
- ANKK1 p.Gln721His Uncertain significance Single submitter
- ANKK1 p.Glu180Lys Uncertain significance Single submitter
- ANKK1 p.Glu360Asp Uncertain significance Single submitter
- ANKK1 p.Glu70Gly Uncertain significance Single submitter
- ANKK1 p.Glu762Lys Uncertain significance Single submitter
- ANKK1 p.Gly204Arg Uncertain significance Single submitter
- ANKK1 p.Gly228Glu Uncertain significance Single submitter
- ANKK1 p.Gly620Ser Uncertain significance Single submitter
- ANKK1 p.His417Gln Uncertain significance Single submitter
- ANKK1 p.His433Arg Uncertain significance Single submitter
- ANKK1 p.His610Arg Uncertain significance Single submitter
- ANKK1 p.His616Gln Uncertain significance Single submitter
- ANKK1 p.His681Gln Uncertain significance Single submitter
- ANKK1 p.Ile124Val Uncertain significance Single submitter
- ANKK1 p.Ile151Val Uncertain significance Single submitter
- ANKK1 p.Ile214Thr Uncertain significance Single submitter
- ANKK1 p.Ile214Val Uncertain significance Single submitter
- ANKK1 p.Leu184Val Uncertain significance Single submitter
- ANKK1 p.Leu343Phe Uncertain significance Single submitter
- ANKK1 p.Leu479Val Uncertain significance Single submitter
- ANKK1 p.Leu498Arg Uncertain significance Single submitter
- ANKK1 p.Leu622Phe Uncertain significance Single submitter
- ANKK1 p.Leu8Arg Uncertain significance Single submitter
- ANKK1 p.Lys603Asn Uncertain significance Single submitter
- ANKK1 p.Lys76Arg Uncertain significance Single submitter
- ANKK1 p.Met176Leu Uncertain significance Single submitter
- ANKK1 p.Met195Val Uncertain significance Single submitter
- ANKK1 p.Met231Ile Uncertain significance Single submitter
- ANKK1 p.Met329Leu Uncertain significance Single submitter
- ANKK1 p.Met578Ile Uncertain significance Single submitter
- ANKK1 p.Phe164Cys Uncertain significance Single submitter
- ANKK1 p.Pro58Arg Uncertain significance Single submitter
- ANKK1 p.Ser182Leu Uncertain significance Single submitter
- ANKK1 p.Ser301Asn Uncertain significance Single submitter
- ANKK1 p.Ser515Ile Uncertain significance Single submitter
- ANKK1 p.Ser670Asn Uncertain significance Single submitter
- ANKK1 p.Ser670Thr Uncertain significance Single submitter
- ANKK1 p.Thr282Asn Uncertain significance Single submitter
- ANKK1 p.Thr392Lys Uncertain significance Single submitter
- ANKK1 p.Thr46Met Uncertain significance Single submitter
- ANKK1 p.Tyr87His Uncertain significance Single submitter
Predictors split 32
The independent predictors disagree with each other — read with care.
- ANKK1 p.Pro596Leu Benign/Likely benign Multiple submitters
- ANKK1 p.Ala39Glu Uncertain significance Single submitter
- ANKK1 p.Ala567Val Uncertain significance Single submitter
- ANKK1 p.Ala584Thr Uncertain significance Single submitter
- ANKK1 p.Ala666Val Uncertain significance Single submitter
- ANKK1 p.Arg45Trp Uncertain significance Single submitter
- ANKK1 p.Asn653Ser Uncertain significance Single submitter
- ANKK1 p.Asp20Asn Uncertain significance Single submitter
- ANKK1 p.Asp20Gly Uncertain significance Single submitter
- ANKK1 p.Asp271Gly Uncertain significance Single submitter
- ANKK1 p.Cys411Phe Uncertain significance Single submitter
- ANKK1 p.Gln470His Uncertain significance Single submitter
- ANKK1 p.Glu256Lys Uncertain significance Single submitter
- ANKK1 p.Gly104Ser Uncertain significance Single submitter
- ANKK1 p.Gly649Glu Uncertain significance Single submitter
- ANKK1 p.Ile124Phe Uncertain significance Single submitter
- ANKK1 p.Ile234Asn Uncertain significance Single submitter
- ANKK1 p.Leu115Pro Uncertain significance Single submitter
- ANKK1 p.Leu718Val Uncertain significance Single submitter
- ANKK1 p.Phe100Ile Uncertain significance Single submitter
- ANKK1 p.Pro193Ala Uncertain significance Single submitter
- ANKK1 p.Pro272Arg Uncertain significance Single submitter
- ANKK1 p.Pro276Ala Uncertain significance Single submitter
- ANKK1 p.Pro530Leu Uncertain significance Single submitter
- ANKK1 p.Thr285Arg Uncertain significance Single submitter
- ANKK1 p.Thr364Asn Uncertain significance Single submitter
- ANKK1 p.Tyr190Cys Uncertain significance Single submitter
- ANKK1 p.Tyr87Cys Uncertain significance Single submitter
- ANKK1 p.Val378Met Uncertain significance Single submitter
- ANKK1 p.Val84Leu Uncertain significance Single submitter
- ANKK1 p.Ala551Glu Uncertain significance No assertion criteria
-
ANKK1 p.Pro276Leu
Benign
No assertion criteria
ANKK1-related disorder
All ANKK1 variants
Benign 16
- c.633-1G>T Multiple submitters
- p.Arg185Gln Multiple submitters
- p.Asn150= Multiple submitters
- p.Asp387= Multiple submitters
- p.Glu587Ter Multiple submitters
- p.Glu713Lys Multiple submitters schizophrenia
- p.Gly442Cys Multiple submitters
- p.His686= Multiple submitters
- p.Ser559= Multiple submitters
- c.995-7C>G Single submitter
- p.Ser182= Single submitter
- p.Ala239Thr No assertion criteria ANKK1-related disorder
- p.Arg315Cys No assertion criteria ANKK1-related disorder
- p.Gly318Arg No assertion criteria ANKK1-related disorder
- p.His490Arg No assertion criteria ANKK1-related disorder
- p.Pro276Leu No assertion criteria ANKK1-related disorder ⚠
Benign/Likely benign 1
- p.Pro596Leu Multiple submitters ⚠
Likely benign 27
- p.Ala640Val Single submitter
- p.Arg346Cys Single submitter
- p.Arg42Lys Single submitter
- p.Arg459His Single submitter
- p.Arg570Gly Single submitter
- p.Arg736Gln Single submitter
- p.Asp280Glu Single submitter
- p.Asp345Asn Single submitter
- p.Gly637Arg Single submitter
- p.Leu622Pro Single submitter
- p.Lys76Glu Single submitter
- p.Met619Leu Single submitter
- p.Met763Thr Single submitter
- p.Pro749Leu Single submitter
- p.Ser725Gly Single submitter
- p.Tyr67Cys Single submitter
- c.682+10C>T No assertion criteria ANKK1-related disorder
- c.*1A>G No assertion criteria ANKK1-related disorder
- p.Ala551= No assertion criteria ANKK1-related disorder
- p.Ala61Thr No assertion criteria ANKK1-related disorder
- p.Ala696Thr No assertion criteria ANKK1-related disorder
- p.Asn677= No assertion criteria ANKK1-related disorder
- p.Asp4Tyr No assertion criteria ANKK1-related disorder
- p.Gly428= No assertion criteria ANKK1-related disorder
- p.His450= No assertion criteria ANKK1-related disorder
- p.Lys274= No assertion criteria ANKK1-related disorder
- p.Tyr396= No assertion criteria ANKK1-related disorder
Uncertain significance 114
- p.Ala39Glu Single submitter ⚠
- p.Ala485Ser Single submitter ⚠
- p.Ala567Val Single submitter ⚠
- p.Ala584Thr Single submitter ⚠
- p.Ala666Val Single submitter ⚠
- p.Ala700Pro Single submitter
- p.Ala716Val Single submitter ⚠
- p.Ala752Thr Single submitter ⚠
- p.Arg175Gln Single submitter ⚠
- p.Arg175Trp Single submitter ⚠
- p.Arg26Ser Single submitter ⚠
- p.Arg295His Single submitter ⚠
- p.Arg295Ser Single submitter ⚠
- p.Arg339Gln Single submitter ⚠
- p.Arg43Cys Single submitter ⚠
- p.Arg43Gly Single submitter ⚠
- p.Arg459Cys Single submitter ⚠
- p.Arg45Trp Single submitter ⚠
- p.Arg483His Single submitter ⚠
- p.Arg537Gln Single submitter ⚠
- p.Arg581Gly Single submitter ⚠
- p.Arg581Ser Single submitter ⚠
- p.Arg635His Single submitter ⚠
- p.Asn422Lys Single submitter ⚠
- p.Asn488Ser Single submitter ⚠
- p.Asn653Ser Single submitter ⚠
- p.Asp19Glu Single submitter ⚠
- p.Asp208Tyr Single submitter ⚠
- p.Asp20Asn Single submitter ⚠
- p.Asp20Gly Single submitter ⚠
- p.Asp24Glu Single submitter ⚠
- p.Asp262Asn Single submitter ⚠
- p.Asp262Gly Single submitter ⚠
- p.Asp271Gly Single submitter ⚠
- p.Asp405Glu Single submitter ⚠
- p.Asp405Gly Single submitter ⚠
- p.Asp440Glu Single submitter ⚠
- p.Asp441Gly Single submitter ⚠
- p.Asp486Glu Single submitter ⚠
- p.Cys411Phe Single submitter ⚠
- p.Cys726Ser Single submitter ⚠
- p.Gln342Leu Single submitter ⚠
- p.Gln35His Single submitter ⚠
- p.Gln38Leu Single submitter ⚠
- p.Gln470His Single submitter ⚠
- p.Gln516His Single submitter ⚠
- p.Gln523His Single submitter ⚠
- p.Gln721His Single submitter ⚠
- p.Glu180Lys Single submitter ⚠
- p.Glu256Lys Single submitter ⚠
- p.Glu360Asp Single submitter ⚠
- p.Glu70Gly Single submitter ⚠
- p.Glu762Lys Single submitter ⚠
- p.Gly104Ser Single submitter ⚠
- p.Gly149Asp Single submitter
- p.Gly204Arg Single submitter ⚠
- p.Gly228Glu Single submitter ⚠
- p.Gly373Val Single submitter
- p.Gly461Glu Single submitter
- p.Gly620Ser Single submitter ⚠
- p.Gly649Glu Single submitter ⚠
- p.His135Asn Single submitter
- p.His417Gln Single submitter ⚠
- p.His433Arg Single submitter ⚠
- p.His610Arg Single submitter ⚠
- p.His616Gln Single submitter ⚠
- p.His681Gln Single submitter ⚠
- p.Ile124Phe Single submitter ⚠
- p.Ile124Val Single submitter ⚠
- p.Ile151Val Single submitter ⚠
- p.Ile214Thr Single submitter ⚠
- p.Ile214Val Single submitter ⚠
- p.Ile234Asn Single submitter ⚠
- p.Leu115Pro Single submitter ⚠
- p.Leu184Val Single submitter ⚠
- p.Leu343Phe Single submitter ⚠
- p.Leu414Phe Single submitter
- p.Leu479Val Single submitter ⚠
- p.Leu498Arg Single submitter ⚠
- p.Leu622Phe Single submitter ⚠
- p.Leu718Val Single submitter ⚠
- p.Leu8Arg Single submitter ⚠
- p.Lys603Asn Single submitter ⚠
- p.Lys76Arg Single submitter ⚠
- p.Met176Leu Single submitter ⚠
- p.Met195Val Single submitter ⚠
- p.Met231Ile Single submitter ⚠
- p.Met329Leu Single submitter ⚠
- p.Met578Ile Single submitter ⚠
- p.Phe100Ile Single submitter ⚠
- p.Phe164Cys Single submitter ⚠
- p.Pro193Ala Single submitter ⚠
- p.Pro272Arg Single submitter ⚠
- p.Pro276Ala Single submitter ⚠
- p.Pro530Leu Single submitter ⚠
- p.Pro58Arg Single submitter ⚠
- p.Ser182Leu Single submitter ⚠
- p.Ser301Asn Single submitter ⚠
- p.Ser515Ile Single submitter ⚠
- p.Ser670Asn Single submitter ⚠
- p.Ser670Thr Single submitter ⚠
- p.Thr282Asn Single submitter ⚠
- p.Thr285Arg Single submitter ⚠
- p.Thr364Asn Single submitter ⚠
- p.Thr392Lys Single submitter ⚠
- p.Thr46Met Single submitter ⚠
- p.Trp594Leu Single submitter
- p.Tyr190Cys Single submitter ⚠
- p.Tyr87Cys Single submitter ⚠
- p.Tyr87His Single submitter ⚠
- p.Val378Met Single submitter ⚠
- p.Val84Leu Single submitter ⚠
- p.Ala551Glu No assertion criteria ⚠
- p.Phe33fs No assertion criteria