ANKFY1 — 229 ClinVar variants
All ClinVar germline ANKFY1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 158 flagged for review →
35 Benign · 37 Likely benign · 157 Uncertain significance
Full ANKFY1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 158
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 91
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ANKFY1 p.Gly862Arg
Uncertain significance
Multiple submitters
ANKFY1-related disorder
- ANKFY1 p.Ala1042Thr Uncertain significance Single submitter
- ANKFY1 p.Ala1062Thr Uncertain significance Single submitter
- ANKFY1 p.Ala28Val Uncertain significance Single submitter
- ANKFY1 p.Ala305Pro Uncertain significance Single submitter
- ANKFY1 p.Ala482Thr Uncertain significance Single submitter
- ANKFY1 p.Ala515Thr Uncertain significance Single submitter
- ANKFY1 p.Ala646Gly Uncertain significance Single submitter
- ANKFY1 p.Ala842Pro Uncertain significance Single submitter
- ANKFY1 p.Ala863Gly Uncertain significance Single submitter
- ANKFY1 p.Ala928Glu Uncertain significance Single submitter
- ANKFY1 p.Ala946Thr Uncertain significance Single submitter
- ANKFY1 p.Arg1127His Uncertain significance Single submitter
- ANKFY1 p.Arg53His Uncertain significance Single submitter
- ANKFY1 p.Arg833Gln Uncertain significance Single submitter
- ANKFY1 p.Arg872Gln Uncertain significance Single submitter
- ANKFY1 p.Arg89Cys Uncertain significance Single submitter
- ANKFY1 p.Arg923His Uncertain significance Single submitter
- ANKFY1 p.Asn1157Asp Uncertain significance Single submitter
- ANKFY1 p.Asn143His Uncertain significance Single submitter
- ANKFY1 p.Asn143Ser Uncertain significance Single submitter
- ANKFY1 p.Asn184Ser Uncertain significance Single submitter
- ANKFY1 p.Asn505Lys Uncertain significance Single submitter
- ANKFY1 p.Asn616Ile Uncertain significance Single submitter
- ANKFY1 p.Asn689Lys Uncertain significance Single submitter
- ANKFY1 p.Asn974Ser Uncertain significance Single submitter
- ANKFY1 p.Asp283Tyr Uncertain significance Single submitter
- ANKFY1 p.Asp589Val Uncertain significance Single submitter
- ANKFY1 p.Cys1105Ser Uncertain significance Single submitter
- ANKFY1 p.Cys1110Gly Uncertain significance Single submitter
- ANKFY1 p.Cys460Arg Uncertain significance Single submitter
- ANKFY1 p.Cys843Tyr Uncertain significance Single submitter
- ANKFY1 p.Gln633Lys Uncertain significance Single submitter
- ANKFY1 p.Gln64Arg Uncertain significance Single submitter
- ANKFY1 p.Gln653His Uncertain significance Single submitter
- ANKFY1 p.Gln756Glu Uncertain significance Single submitter
- ANKFY1 p.Glu380Val Uncertain significance Single submitter
- ANKFY1 p.Glu3Asp Uncertain significance Single submitter
- ANKFY1 p.Glu48Lys Uncertain significance Single submitter
- ANKFY1 p.Glu865Ala Uncertain significance Single submitter
- ANKFY1 p.Glu994Asp Uncertain significance Single submitter
- ANKFY1 p.Gly1118Arg Uncertain significance Single submitter
- ANKFY1 p.Gly247Glu Uncertain significance Single submitter
- ANKFY1 p.Gly256Arg Uncertain significance Single submitter
- ANKFY1 p.Gly929Glu Uncertain significance Single submitter
- ANKFY1 p.His372Pro Uncertain significance Single submitter
- ANKFY1 p.His411Arg Uncertain significance Single submitter
- ANKFY1 p.His449Arg Uncertain significance Single submitter
- ANKFY1 p.His571Arg Uncertain significance Single submitter
- ANKFY1 p.His808Gln Uncertain significance Single submitter
- ANKFY1 p.His829Leu Uncertain significance Single submitter
- ANKFY1 p.Ile1024Thr Uncertain significance Single submitter
- ANKFY1 p.Ile1145Val Uncertain significance Single submitter
- ANKFY1 p.Ile79Val Uncertain significance Single submitter
- ANKFY1 p.Ile921Thr Uncertain significance Single submitter
- ANKFY1 p.Leu1132Arg Uncertain significance Single submitter
- ANKFY1 p.Leu510Phe Uncertain significance Single submitter
- ANKFY1 p.Leu609Pro Uncertain significance Single submitter
- ANKFY1 p.Leu951Val Uncertain significance Single submitter
- ANKFY1 p.Leu959Val Uncertain significance Single submitter
- ANKFY1 p.Lys1100Thr Uncertain significance Single submitter
- ANKFY1 p.Lys212Arg Uncertain significance Single submitter
- ANKFY1 p.Met1097Lys Uncertain significance Single submitter
- ANKFY1 p.Met1097Thr Uncertain significance Single submitter
- ANKFY1 p.Met14Ile Uncertain significance Single submitter
- ANKFY1 p.Met14Leu Uncertain significance Single submitter
- ANKFY1 p.Met619Leu Uncertain significance Single submitter
- ANKFY1 p.Met628Val Uncertain significance Single submitter
- ANKFY1 p.Met681Lys Uncertain significance Single submitter
- ANKFY1 p.Pro1009Ala Uncertain significance Single submitter
- ANKFY1 p.Pro360Arg Uncertain significance Single submitter
- ANKFY1 p.Pro580Leu Uncertain significance Single submitter
- ANKFY1 p.Pro690Leu Uncertain significance Single submitter
- ANKFY1 p.Pro719Leu Uncertain significance Single submitter
- ANKFY1 p.Ser1099Pro Uncertain significance Single submitter
- ANKFY1 p.Ser270Gly Uncertain significance Single submitter
- ANKFY1 p.Ser419Pro Uncertain significance Single submitter
- ANKFY1 p.Ser433Ala Uncertain significance Single submitter
- ANKFY1 p.Ser540Gly Uncertain significance Single submitter
- ANKFY1 p.Ser611Phe Uncertain significance Single submitter
- ANKFY1 p.Ser682Ala Uncertain significance Single submitter
- ANKFY1 p.Thr1139Asn Uncertain significance Single submitter
- ANKFY1 p.Thr173Met Uncertain significance Single submitter
- ANKFY1 p.Thr274Ala Uncertain significance Single submitter
- ANKFY1 p.Thr535Ser Uncertain significance Single submitter
- ANKFY1 p.Thr953Ser Uncertain significance Single submitter
- ANKFY1 p.Tyr1111Cys Uncertain significance Single submitter
- ANKFY1 p.Tyr211His Uncertain significance Single submitter
- ANKFY1 p.Val1168Ala Uncertain significance Single submitter
- ANKFY1 p.Val592Ala Uncertain significance Single submitter
- ANKFY1 p.Val867Leu Uncertain significance Single submitter
Predictors split 67
The independent predictors disagree with each other — read with care.
- ANKFY1 p.Ala259Thr Uncertain significance Single submitter
- ANKFY1 p.Ala41Pro Uncertain significance Single submitter
- ANKFY1 p.Ala524Thr Uncertain significance Single submitter
- ANKFY1 p.Ala638Ser Uncertain significance Single submitter
- ANKFY1 p.Ala741Val Uncertain significance Single submitter
- ANKFY1 p.Ala895Thr Uncertain significance Single submitter
- ANKFY1 p.Ala930Ser Uncertain significance Single submitter
- ANKFY1 p.Ala947Thr Uncertain significance Single submitter
- ANKFY1 p.Arg464Trp Uncertain significance Single submitter
- ANKFY1 p.Arg500Gln Uncertain significance Single submitter
- ANKFY1 p.Asn1073Asp Uncertain significance Single submitter
- ANKFY1 p.Asn110Lys Uncertain significance Single submitter
- ANKFY1 p.Asn316His Uncertain significance Single submitter
- ANKFY1 p.Asn437Lys Uncertain significance Single submitter
- ANKFY1 p.Asn616Ser Uncertain significance Single submitter
- ANKFY1 p.Asn699Ser Likely benign Single submitter
- ANKFY1 p.Asn760Ser Uncertain significance Single submitter
- ANKFY1 p.Asp108Gly Uncertain significance Single submitter
- ANKFY1 p.Asp827Asn Uncertain significance Single submitter
- ANKFY1 p.Gln1084Arg Uncertain significance Single submitter
- ANKFY1 p.Gln902Arg Uncertain significance Single submitter
- ANKFY1 p.Glu251Asp Uncertain significance Single submitter
- ANKFY1 p.Glu3Lys Uncertain significance Single submitter
- ANKFY1 p.Glu400Lys Uncertain significance Single submitter
- ANKFY1 p.Glu738Lys Uncertain significance Single submitter
- ANKFY1 p.Glu854Lys Uncertain significance Single submitter
- ANKFY1 p.Gly1167Glu Uncertain significance Single submitter
- ANKFY1 p.Gly157Asp Uncertain significance Single submitter
- ANKFY1 p.Gly357Arg Uncertain significance Single submitter
- ANKFY1 p.Gly378Ala Uncertain significance Single submitter
- ANKFY1 p.Gly447Ser Uncertain significance Single submitter
- ANKFY1 p.Ile375Leu Uncertain significance Single submitter
- ANKFY1 p.Ile562Val Uncertain significance Single submitter
- ANKFY1 p.Ile630Val Uncertain significance Single submitter
- ANKFY1 p.Ile921Val Uncertain significance Single submitter
- ANKFY1 p.Leu104Met Uncertain significance Single submitter
- ANKFY1 p.Leu209Ser Uncertain significance Single submitter
- ANKFY1 p.Leu519Met Uncertain significance Single submitter
- ANKFY1 p.Leu700Met Uncertain significance Single submitter
- ANKFY1 p.Leu945Phe Uncertain significance Single submitter
- ANKFY1 p.Lys1039Glu Uncertain significance Single submitter
- ANKFY1 p.Lys11Asn Uncertain significance Single submitter
- ANKFY1 p.Lys848Asn Uncertain significance Single submitter
- ANKFY1 p.Lys8Gln Uncertain significance Single submitter
- ANKFY1 p.Met159Leu Uncertain significance Single submitter
- ANKFY1 p.Met343Lys Uncertain significance Single submitter
- ANKFY1 p.Met343Thr Uncertain significance Single submitter
- ANKFY1 p.Pro1040Leu Uncertain significance Single submitter
- ANKFY1 p.Pro427Leu Uncertain significance Single submitter
- ANKFY1 p.Ser335Leu Uncertain significance Single submitter
- ANKFY1 p.Ser47Arg Uncertain significance Single submitter
- ANKFY1 p.Ser637Asn Uncertain significance Single submitter
- ANKFY1 p.Thr1120Ala Uncertain significance Single submitter
- ANKFY1 p.Thr114Met Uncertain significance Single submitter
- ANKFY1 p.Thr273Ile Uncertain significance Single submitter
- ANKFY1 p.Thr455Met Uncertain significance Single submitter
- ANKFY1 p.Thr573Ile Uncertain significance Single submitter
- ANKFY1 p.Tyr1083His Uncertain significance Single submitter
- ANKFY1 p.Tyr237Cys Uncertain significance Single submitter
-
ANKFY1 p.Val162Met
Uncertain significance
Single submitter
ANKFY1-related disorder
- ANKFY1 p.Val428Met Uncertain significance Single submitter
- ANKFY1 p.Val561Leu Uncertain significance Single submitter
- ANKFY1 p.Val751Met Uncertain significance Single submitter
- ANKFY1 p.Val809Met Uncertain significance Single submitter
- ANKFY1 p.Val963Met Uncertain significance Single submitter
- ANKFY1 p.Val990Ala Uncertain significance Single submitter
-
ANKFY1 p.Asn379Ser
Uncertain significance
No assertion criteria
ANKFY1-related disorder
All ANKFY1 variants
Benign 35
- c.10+423G>A Multiple submitters
- c.11-31C>T Multiple submitters
- c.11-75A>G Multiple submitters
- c.1103+77G>A Multiple submitters
- c.1699+199G>A Multiple submitters
- c.1953-190G>T Multiple submitters
- c.2121+154C>T Multiple submitters
- c.2122-150G>C Multiple submitters
- c.2241-48C>T Multiple submitters
- c.2241-70A>G Multiple submitters
- c.2598+177C>T Multiple submitters
- c.2776-134C>T Multiple submitters
- c.3014+34G>A Multiple submitters
- c.3140-106T>G Multiple submitters
- c.323-81C>G Multiple submitters
- c.3378-121G>C Multiple submitters
- c.3378-40G>A Multiple submitters
- c.3378-97C>G Multiple submitters
- p.Asp998= Multiple submitters
- p.Leu264= Multiple submitters
- p.Thr507= Multiple submitters
- p.Thr727= Multiple submitters
- c.1173-110dup Single submitter
- c.1373-164C>G Single submitter
- c.1373-194T>C Single submitter
- c.203+167del Single submitter
- c.204-173T>C Single submitter
- c.2923+207C>T Single submitter
- c.322+199G>T Single submitter
- c.322+200A>T Single submitter
- c.3287-125C>T Single submitter
- c.3287-179C>G Single submitter
- c.582+197C>G Single submitter
- p.Ala614Thr No assertion criteria ANKFY1-related disorder
- p.Thr603= No assertion criteria ANKFY1-related disorder
Likely benign 37
- c.10+316C>A Single submitter
- p.Ala252Val Single submitter
- p.Ala456Val Single submitter
- p.Ala853= Single submitter
- p.Asn699Ser Single submitter ⚠
- p.Cys34= Single submitter
- p.Gly816Ser Single submitter
- p.His894= Single submitter
- p.Ile375Val Single submitter
- p.Pro739= Single submitter
- p.Ser68= Single submitter
- p.Ser80= Single submitter
- p.Val541Ile Single submitter
- c.10+200C>A No assertion criteria ANKFY1-related disorder
- c.10+297G>T No assertion criteria ANKFY1-related disorder
- c.10+340_10+342del No assertion criteria ANKFY1-related disorder
- c.10+8T>C No assertion criteria ANKFY1-related disorder
- c.1104-4G>A No assertion criteria ANKFY1-related disorder
- c.1172+4C>T No assertion criteria ANKFY1-related disorder
- c.1372+9C>T No assertion criteria ANKFY1-related disorder
- c.3140-9G>T No assertion criteria ANKFY1-related disorder
- c.*10C>T No assertion criteria ANKFY1-related disorder
- p.Ala1057= No assertion criteria ANKFY1-related disorder
- p.Ala28= No assertion criteria ANKFY1-related disorder
- p.Ala39= No assertion criteria ANKFY1-related disorder
- p.Ala440= No assertion criteria ANKFY1-related disorder
- p.Ala531= No assertion criteria ANKFY1-related disorder
- p.Ala999= No assertion criteria ANKFY1-related disorder
- p.Arg677Gln No assertion criteria ANKFY1-related disorder
- p.Gln355= No assertion criteria ANKFY1-related disorder
- p.Glu762= No assertion criteria ANKFY1-related disorder
- p.Leu161= No assertion criteria ANKFY1-related disorder
- p.Leu927= No assertion criteria ANKFY1-related disorder
- p.Ser100= No assertion criteria ANKFY1-related disorder
- p.Ser1008= No assertion criteria ANKFY1-related disorder
- p.Ser861= No assertion criteria ANKFY1-related disorder
- p.Val276= No assertion criteria ANKFY1-related disorder
Uncertain significance 157
- p.Gly862Arg Multiple submitters ANKFY1-related disorder ⚠
- p.Ala1042Thr Single submitter ⚠
- p.Ala1062Thr Single submitter ⚠
- p.Ala259Thr Single submitter ⚠
- p.Ala28Val Single submitter ⚠
- p.Ala305Pro Single submitter ⚠
- p.Ala41Pro Single submitter ⚠
- p.Ala482Thr Single submitter ⚠
- p.Ala515Thr Single submitter ⚠
- p.Ala524Thr Single submitter ⚠
- p.Ala638Ser Single submitter ⚠
- p.Ala646Gly Single submitter ⚠
- p.Ala741Val Single submitter ⚠
- p.Ala842Pro Single submitter ⚠
- p.Ala863Gly Single submitter ⚠
- p.Ala895Thr Single submitter ⚠
- p.Ala928Glu Single submitter ⚠
- p.Ala930Ser Single submitter ⚠
- p.Ala946Thr Single submitter ⚠
- p.Ala947Thr Single submitter ⚠
- p.Arg1127His Single submitter ⚠
- p.Arg464Trp Single submitter ⚠
- p.Arg500Gln Single submitter ⚠
- p.Arg53His Single submitter ⚠
- p.Arg833Gln Single submitter ⚠
- p.Arg872Gln Single submitter ⚠
- p.Arg89Cys Single submitter ⚠
- p.Arg923His Single submitter ⚠
- p.Asn1073Asp Single submitter ⚠
- p.Asn110Lys Single submitter ⚠
- p.Asn1157Asp Single submitter ⚠
- p.Asn143His Single submitter ⚠
- p.Asn143Ser Single submitter ⚠
- p.Asn184Ser Single submitter ⚠
- p.Asn316His Single submitter ⚠
- p.Asn437Lys Single submitter ⚠
- p.Asn505Lys Single submitter ⚠
- p.Asn616Ile Single submitter ⚠
- p.Asn616Ser Single submitter ⚠
- p.Asn689Lys Single submitter ⚠
- p.Asn760Ser Single submitter ⚠
- p.Asn974Ser Single submitter ⚠
- p.Asp108Gly Single submitter ⚠
- p.Asp283Tyr Single submitter ⚠
- p.Asp589Val Single submitter ⚠
- p.Asp827Asn Single submitter ⚠
- p.Cys1105Ser Single submitter ⚠
- p.Cys1110Gly Single submitter ⚠
- p.Cys460Arg Single submitter ⚠
- p.Cys843Tyr Single submitter ⚠
- p.Gln1084Arg Single submitter ⚠
- p.Gln633Lys Single submitter ⚠
- p.Gln64Arg Single submitter ⚠
- p.Gln653His Single submitter ⚠
- p.Gln756Glu Single submitter ⚠
- p.Gln902Arg Single submitter ⚠
- p.Glu251Asp Single submitter ⚠
- p.Glu380Val Single submitter ⚠
- p.Glu3Asp Single submitter ⚠
- p.Glu3Lys Single submitter ⚠
- p.Glu400Lys Single submitter ⚠
- p.Glu48Lys Single submitter ⚠
- p.Glu738Lys Single submitter ⚠
- p.Glu854Lys Single submitter ⚠
- p.Glu865Ala Single submitter ⚠
- p.Glu994Asp Single submitter ⚠
- p.Gly1118Arg Single submitter ⚠
- p.Gly1167Glu Single submitter ⚠
- p.Gly157Asp Single submitter ⚠
- p.Gly247Glu Single submitter ⚠
- p.Gly256Arg Single submitter ⚠
- p.Gly357Arg Single submitter ⚠
- p.Gly378Ala Single submitter ⚠
- p.Gly447Ser Single submitter ⚠
- p.Gly929Glu Single submitter ⚠
- p.His372Pro Single submitter ⚠
- p.His411Arg Single submitter ⚠
- p.His449Arg Single submitter ⚠
- p.His571Arg Single submitter ⚠
- p.His808Gln Single submitter ⚠
- p.His829Leu Single submitter ⚠
- p.Ile1024Thr Single submitter ⚠
- p.Ile1145Val Single submitter ⚠
- p.Ile375Leu Single submitter ⚠
- p.Ile562Val Single submitter ⚠
- p.Ile630Val Single submitter ⚠
- p.Ile79Val Single submitter ⚠
- p.Ile921Thr Single submitter ⚠
- p.Ile921Val Single submitter ⚠
- p.Leu104Met Single submitter ⚠
- p.Leu1132Arg Single submitter ⚠
- p.Leu209Ser Single submitter ⚠
- p.Leu510Phe Single submitter ⚠
- p.Leu519Met Single submitter ⚠
- p.Leu609Pro Single submitter ⚠
- p.Leu700Met Single submitter ⚠
- p.Leu945Phe Single submitter ⚠
- p.Leu951Val Single submitter ⚠
- p.Leu959Val Single submitter ⚠
- p.Lys1039Glu Single submitter ⚠
- p.Lys1100Thr Single submitter ⚠
- p.Lys11Asn Single submitter ⚠
- p.Lys212Arg Single submitter ⚠
- p.Lys848Asn Single submitter ⚠
- p.Lys8Gln Single submitter ⚠
- p.Met1097Lys Single submitter ⚠
- p.Met1097Thr Single submitter ⚠
- p.Met14Ile Single submitter ⚠
- p.Met14Leu Single submitter ⚠
- p.Met159Leu Single submitter ⚠
- p.Met343Lys Single submitter ⚠
- p.Met343Thr Single submitter ⚠
- p.Met619Leu Single submitter ⚠
- p.Met628Val Single submitter ⚠
- p.Met681Lys Single submitter ⚠
- p.Pro1009Ala Single submitter ⚠
- p.Pro1040Leu Single submitter ⚠
- p.Pro360Arg Single submitter ⚠
- p.Pro427Leu Single submitter ⚠
- p.Pro580Leu Single submitter ⚠
- p.Pro690Leu Single submitter ⚠
- p.Pro719Leu Single submitter ⚠
- p.Ser1099Pro Single submitter ⚠
- p.Ser270Gly Single submitter ⚠
- p.Ser335Leu Single submitter ⚠
- p.Ser419Pro Single submitter ⚠
- p.Ser433Ala Single submitter ⚠
- p.Ser47Arg Single submitter ⚠
- p.Ser540Gly Single submitter ⚠
- p.Ser611Phe Single submitter ⚠
- p.Ser637Asn Single submitter ⚠
- p.Ser682Ala Single submitter ⚠
- p.Thr1120Ala Single submitter ⚠
- p.Thr1139Asn Single submitter ⚠
- p.Thr114Met Single submitter ⚠
- p.Thr173Met Single submitter ⚠
- p.Thr273Ile Single submitter ⚠
- p.Thr274Ala Single submitter ⚠
- p.Thr455Met Single submitter ⚠
- p.Thr535Ser Single submitter ⚠
- p.Thr573Ile Single submitter ⚠
- p.Thr953Ser Single submitter ⚠
- p.Tyr1083His Single submitter ⚠
- p.Tyr1111Cys Single submitter ⚠
- p.Tyr211His Single submitter ⚠
- p.Tyr237Cys Single submitter ⚠
- p.Val1168Ala Single submitter ⚠
- p.Val162Met Single submitter ANKFY1-related disorder ⚠
- p.Val428Met Single submitter ⚠
- p.Val561Leu Single submitter ⚠
- p.Val592Ala Single submitter ⚠
- p.Val751Met Single submitter ⚠
- p.Val809Met Single submitter ⚠
- p.Val867Leu Single submitter ⚠
- p.Val963Met Single submitter ⚠
- p.Val990Ala Single submitter ⚠
- p.Asn379Ser No assertion criteria ANKFY1-related disorder ⚠