ANKZF1 — 729 ClinVar variants
All ClinVar germline ANKZF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 397 flagged for review →
7 Conflicting · 20 Benign · 3 Benign/Likely benign · 201 Likely benign · 498 Uncertain significance
Full ANKZF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 397
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 agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 195
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 195
- ANKZF1 p.Ala327Thr Uncertain significance Multiple submitters
- ANKZF1 p.Ala391Val Uncertain significance Multiple submitters
- ANKZF1 p.Ala486Thr Uncertain significance Multiple submitters
- ANKZF1 p.Ala529Val Uncertain significance Multiple submitters
- ANKZF1 p.Arg249Gln Uncertain significance Multiple submitters
- ANKZF1 p.Arg252Gln Uncertain significance Multiple submitters
- ANKZF1 p.Arg300Gly Uncertain significance Multiple submitters
- ANKZF1 p.Arg42Pro Uncertain significance Multiple submitters
- ANKZF1 p.Arg503Gln Uncertain significance Multiple submitters
- ANKZF1 p.Arg569Gln Uncertain significance Multiple submitters
- ANKZF1 p.Arg613Gln Uncertain significance Multiple submitters
- ANKZF1 p.Asn442Ser Uncertain significance Multiple submitters
- ANKZF1 p.Asp114Glu Uncertain significance Multiple submitters
- ANKZF1 p.Gln142Glu Uncertain significance Multiple submitters
- ANKZF1 p.Gln394His Uncertain significance Multiple submitters
- ANKZF1 p.Gln463Leu Uncertain significance Multiple submitters
- ANKZF1 p.Glu139Asp Uncertain significance Multiple submitters
- ANKZF1 p.Glu152Lys Uncertain significance Multiple submitters
- ANKZF1 p.Gly219Asp Uncertain significance Multiple submitters
-
ANKZF1 p.Gly281Ala
Uncertain significance
Multiple submitters
ANKZF1-related disorder
- ANKZF1 p.His455Arg Uncertain significance Multiple submitters
- ANKZF1 p.His90Arg Uncertain significance Multiple submitters
- ANKZF1 p.Leu458Pro Uncertain significance Multiple submitters
- ANKZF1 p.Leu510Pro Uncertain significance Multiple submitters
- ANKZF1 p.Lys231Thr Uncertain significance Multiple submitters
- ANKZF1 p.Pro11Ser Uncertain significance Multiple submitters
- ANKZF1 p.Pro184Arg Uncertain significance Multiple submitters
- ANKZF1 p.Pro24Ala Uncertain significance Multiple submitters
- ANKZF1 p.Pro571Leu Uncertain significance Multiple submitters
- ANKZF1 p.Ser51Leu Uncertain significance Multiple submitters
- ANKZF1 p.Thr674Ala Uncertain significance Multiple submitters
- ANKZF1 p.Tyr572His Uncertain significance Multiple submitters
- ANKZF1 p.Ala112Ser Uncertain significance Single submitter
- ANKZF1 p.Ala214Gly Uncertain significance Single submitter
- ANKZF1 p.Ala280Glu Uncertain significance Single submitter
- ANKZF1 p.Ala280Thr Uncertain significance Single submitter
- ANKZF1 p.Ala452Pro Uncertain significance Single submitter
- ANKZF1 p.Ala4Ser Uncertain significance Single submitter
- ANKZF1 p.Ala500Ser Uncertain significance Single submitter
- ANKZF1 p.Ala529Thr Uncertain significance Single submitter
- ANKZF1 p.Ala542Val Uncertain significance Single submitter
- ANKZF1 p.Ala568Ser Uncertain significance Single submitter
- ANKZF1 p.Ala576Thr Uncertain significance Single submitter
- ANKZF1 p.Ala672Val Uncertain significance Single submitter
- ANKZF1 p.Ala8Ser Uncertain significance Single submitter
- ANKZF1 p.Arg148Thr Uncertain significance Single submitter
- ANKZF1 p.Arg164Gln Uncertain significance Single submitter
- ANKZF1 p.Arg242Gln Uncertain significance Single submitter
- ANKZF1 p.Arg242Pro Uncertain significance Single submitter
- ANKZF1 p.Arg252Gly Uncertain significance Single submitter
- ANKZF1 p.Arg276His Uncertain significance Single submitter
- ANKZF1 p.Arg338Pro Uncertain significance Single submitter
- ANKZF1 p.Arg370Lys Uncertain significance Single submitter
- ANKZF1 p.Arg386Gly Uncertain significance Single submitter
- ANKZF1 p.Arg42Gly Uncertain significance Single submitter
- ANKZF1 p.Arg438Lys Uncertain significance Single submitter
- ANKZF1 p.Arg448Pro Uncertain significance Single submitter
- ANKZF1 p.Arg456Gln Uncertain significance Single submitter
- ANKZF1 p.Arg456Gly Uncertain significance Single submitter
- ANKZF1 p.Arg522Ser Uncertain significance Single submitter
- ANKZF1 p.Arg54Lys Uncertain significance Single submitter
- ANKZF1 p.Arg626Pro Uncertain significance Single submitter
- ANKZF1 p.Arg658Ser Uncertain significance Single submitter
- ANKZF1 p.Arg686Gln Uncertain significance Single submitter
- ANKZF1 p.Asn198Lys Uncertain significance Single submitter
- ANKZF1 p.Asn395Lys Uncertain significance Single submitter
- ANKZF1 p.Asn496Ser Uncertain significance Single submitter
- ANKZF1 p.Asn83Asp Uncertain significance Single submitter
- ANKZF1 p.Asn83Thr Uncertain significance Single submitter
- ANKZF1 p.Asp187Asn Uncertain significance Single submitter
- ANKZF1 p.Asp187Gly Uncertain significance Single submitter
- ANKZF1 p.Asp387Asn Uncertain significance Single submitter
- ANKZF1 p.Asp449Asn Uncertain significance Single submitter
- ANKZF1 p.Asp520Gly Uncertain significance Single submitter
- ANKZF1 p.Asp6His Uncertain significance Single submitter
- ANKZF1 p.Asp705Asn Uncertain significance Single submitter
- ANKZF1 p.Asp705Glu Uncertain significance Single submitter
- ANKZF1 p.Asp94Ala Uncertain significance Single submitter
- ANKZF1 p.Cys180Arg Uncertain significance Single submitter
- ANKZF1 p.Cys502Tyr Uncertain significance Single submitter
- ANKZF1 p.Cys688Tyr Uncertain significance Single submitter
- ANKZF1 p.Cys74Ser Uncertain significance Single submitter
- ANKZF1 p.Gln601Arg Uncertain significance Single submitter
- ANKZF1 p.Gln631Glu Uncertain significance Single submitter
- ANKZF1 p.Gln635Arg Uncertain significance Single submitter
- ANKZF1 p.Gln669His Uncertain significance Single submitter
- ANKZF1 p.Gln79Arg Uncertain significance Single submitter
- ANKZF1 p.Glu138Asp Uncertain significance Single submitter
- ANKZF1 p.Glu290Gly Uncertain significance Single submitter
- ANKZF1 p.Glu290Lys Uncertain significance Single submitter
- ANKZF1 p.Glu351Lys Uncertain significance Single submitter
- ANKZF1 p.Glu371Gly Uncertain significance Single submitter
- ANKZF1 p.Glu372Lys Uncertain significance Single submitter
- ANKZF1 p.Glu416Gly Uncertain significance Single submitter
- ANKZF1 p.Glu419Gln Uncertain significance Single submitter
- ANKZF1 p.Glu429Gly Uncertain significance Single submitter
- ANKZF1 p.Glu431Ala Uncertain significance Single submitter
- ANKZF1 p.Glu431Asp Uncertain significance Single submitter
- ANKZF1 p.Glu465Gly Uncertain significance Single submitter
- ANKZF1 p.Glu53Asp Uncertain significance Single submitter
- ANKZF1 p.Glu53Lys Uncertain significance Single submitter
- ANKZF1 p.Glu583Ala Uncertain significance Single submitter
- ANKZF1 p.Glu611Asp Uncertain significance Single submitter
- ANKZF1 p.Glu629Gln Uncertain significance Single submitter
- ANKZF1 p.Glu656Ala Uncertain significance Single submitter
- ANKZF1 p.Glu656Asp Uncertain significance Single submitter
- ANKZF1 p.Gly129Arg Uncertain significance Single submitter
- ANKZF1 p.Gly215Arg Uncertain significance Single submitter
- ANKZF1 p.Gly253Arg Uncertain significance Single submitter
- ANKZF1 p.Gly292Asp Uncertain significance Single submitter
- ANKZF1 p.Gly308Glu Uncertain significance Single submitter
- ANKZF1 p.Gly311Arg Uncertain significance Single submitter
- ANKZF1 p.Gly311Glu Uncertain significance Single submitter
- ANKZF1 p.Gly393Arg Uncertain significance Single submitter
- ANKZF1 p.Gly402Asp Uncertain significance Single submitter
- ANKZF1 p.Gly423Glu Uncertain significance Single submitter
- ANKZF1 p.Gly50Ser Uncertain significance Single submitter
- ANKZF1 p.Gly52Arg Uncertain significance Single submitter
- ANKZF1 p.Gly534Ser Uncertain significance Single submitter
- ANKZF1 p.Gly546Arg Uncertain significance Single submitter
- ANKZF1 p.Gly548Ser Uncertain significance Single submitter
- ANKZF1 p.His185Pro Uncertain significance Single submitter
- ANKZF1 p.His230Pro Uncertain significance Single submitter
- ANKZF1 p.His341Leu Uncertain significance Single submitter
- ANKZF1 p.His365Leu Uncertain significance Single submitter
- ANKZF1 p.His702Asn Uncertain significance Single submitter
- ANKZF1 p.His702Gln Uncertain significance Single submitter
- ANKZF1 p.His717Arg Uncertain significance Single submitter
- ANKZF1 p.Ile221Leu Uncertain significance Single submitter
- ANKZF1 p.Ile221Val Uncertain significance Single submitter
- ANKZF1 p.Ile384Thr Uncertain significance Single submitter
- ANKZF1 p.Ile677Asn Uncertain significance Single submitter
- ANKZF1 p.Ile682Met Uncertain significance Single submitter
- ANKZF1 p.Leu104Val Uncertain significance Single submitter
- ANKZF1 p.Leu109Val Uncertain significance Single submitter
- ANKZF1 p.Leu175Pro Uncertain significance Single submitter
- ANKZF1 p.Leu314Pro Uncertain significance Single submitter
- ANKZF1 p.Leu346Ser Uncertain significance Single submitter
- ANKZF1 p.Leu415Val Uncertain significance Single submitter
- ANKZF1 p.Leu479Ser Uncertain significance Single submitter
- ANKZF1 p.Leu483Pro Uncertain significance Single submitter
- ANKZF1 p.Leu498Pro Uncertain significance Single submitter
- ANKZF1 p.Leu514Pro Uncertain significance Single submitter
- ANKZF1 p.Leu524Val Uncertain significance Single submitter
- ANKZF1 p.Leu61Pro Uncertain significance Single submitter
- ANKZF1 p.Leu660Pro Uncertain significance Single submitter
- ANKZF1 p.Leu670Ser Uncertain significance Single submitter
- ANKZF1 p.Lys107Arg Uncertain significance Single submitter
- ANKZF1 p.Lys241Glu Uncertain significance Single submitter
- ANKZF1 p.Lys310Arg Uncertain significance Single submitter
Predictors split 198
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 198
- ANKZF1 p.Ala251Asp Uncertain significance Multiple submitters
- ANKZF1 p.Ala269Thr Uncertain significance Multiple submitters
- ANKZF1 p.Ala287Val Uncertain significance Multiple submitters
- ANKZF1 p.Ala575Val Uncertain significance Multiple submitters
- ANKZF1 p.Arg103Cys Uncertain significance Multiple submitters
- ANKZF1 p.Arg103His Uncertain significance Multiple submitters
- ANKZF1 p.Arg146Trp Uncertain significance Multiple submitters
- ANKZF1 p.Arg179Cys Uncertain significance Multiple submitters
- ANKZF1 p.Arg235Cys Uncertain significance Multiple submitters
- ANKZF1 p.Arg235His Uncertain significance Multiple submitters
- ANKZF1 p.Arg239Trp Uncertain significance Multiple submitters
- ANKZF1 p.Arg242Trp Uncertain significance Multiple submitters
- ANKZF1 p.Arg297His Uncertain significance Multiple submitters
- ANKZF1 p.Arg300Cys Uncertain significance Multiple submitters
- ANKZF1 p.Arg303Trp Uncertain significance Multiple submitters
- ANKZF1 p.Arg329Cys Uncertain significance Multiple submitters
-
ANKZF1 p.Arg329His
Uncertain significance
Multiple submitters
ANKZF1-related disorder
- ANKZF1 p.Arg338His Uncertain significance Multiple submitters
- ANKZF1 p.Arg354Gln Uncertain significance Multiple submitters
- ANKZF1 p.Arg437Ser Uncertain significance Multiple submitters
- ANKZF1 p.Arg552His Uncertain significance Multiple submitters
- ANKZF1 p.Arg567Trp Uncertain significance Multiple submitters
- ANKZF1 p.Arg585Gln Benign/Likely benign Multiple submitters
- ANKZF1 p.Arg617Gln Benign Multiple submitters
- ANKZF1 p.Arg626Gln Uncertain significance Multiple submitters
- ANKZF1 p.Arg626Trp Uncertain significance Multiple submitters
- ANKZF1 p.Arg628Gln Uncertain significance Multiple submitters
- ANKZF1 p.Arg665Gln Uncertain significance Multiple submitters
- ANKZF1 p.Arg687Cys Uncertain significance Multiple submitters
- ANKZF1 p.Arg687His Uncertain significance Multiple submitters
- ANKZF1 p.Arg712Cys Uncertain significance Multiple submitters
- ANKZF1 p.Arg718Cys Uncertain significance Multiple submitters
- ANKZF1 p.Arg718His Uncertain significance Multiple submitters
- ANKZF1 p.Asp596Asn Uncertain significance Multiple submitters
- ANKZF1 p.Cys428Phe Uncertain significance Multiple submitters
- ANKZF1 p.Gln720Glu Uncertain significance Multiple submitters
- ANKZF1 p.Glu131Gly Uncertain significance Multiple submitters
- ANKZF1 p.Glu193Lys Uncertain significance Multiple submitters
- ANKZF1 p.Glu226Gly Uncertain significance Multiple submitters
- ANKZF1 p.Glu351Asp Uncertain significance Multiple submitters
- ANKZF1 p.Glu397Gln Uncertain significance Multiple submitters
- ANKZF1 p.Glu451Lys Uncertain significance Multiple submitters
- ANKZF1 p.Ile324Leu Uncertain significance Multiple submitters
- ANKZF1 p.Leu113Pro Uncertain significance Multiple submitters
- ANKZF1 p.Leu527Phe Uncertain significance Multiple submitters
- ANKZF1 p.Lys367Ile Uncertain significance Multiple submitters
- ANKZF1 p.Met588Thr Uncertain significance Multiple submitters
- ANKZF1 p.Met610Ile Uncertain significance Multiple submitters
- ANKZF1 p.Phe17Leu Uncertain significance Multiple submitters
- ANKZF1 p.Pro162Leu Uncertain significance Multiple submitters
- ANKZF1 p.Pro530Arg Uncertain significance Multiple submitters
- ANKZF1 p.Pro570Leu Uncertain significance Multiple submitters
- ANKZF1 p.Pro570Ser Benign Multiple submitters
- ANKZF1 p.Pro608Thr Uncertain significance Multiple submitters
- ANKZF1 p.Ser111Phe Uncertain significance Multiple submitters
- ANKZF1 p.Ser405Leu Uncertain significance Multiple submitters
- ANKZF1 p.Ser472Phe Uncertain significance Multiple submitters
- ANKZF1 p.Ser566Cys Benign Multiple submitters
- ANKZF1 p.Ser566Phe Uncertain significance Multiple submitters
- ANKZF1 p.Ser694Phe Uncertain significance Multiple submitters
- ANKZF1 p.Thr237Ala Uncertain significance Multiple submitters
- ANKZF1 p.Thr237Met Uncertain significance Multiple submitters
- ANKZF1 p.Thr457Ile Benign Multiple submitters
- ANKZF1 p.Tyr178Cys Uncertain significance Multiple submitters
- ANKZF1 p.Val208Met Uncertain significance Multiple submitters
- ANKZF1 p.Ala213Val Uncertain significance Single submitter
-
ANKZF1 p.Ala220Gly
Uncertain significance
Single submitter
ANKZF1-related disorder
- ANKZF1 p.Ala280Pro Uncertain significance Single submitter
- ANKZF1 p.Ala298Val Uncertain significance Single submitter
- ANKZF1 p.Ala501Ser Uncertain significance Single submitter
- ANKZF1 p.Ala542Ser Uncertain significance Single submitter
- ANKZF1 p.Ala544Thr Uncertain significance Single submitter
- ANKZF1 p.Ala545Thr Uncertain significance Single submitter
- ANKZF1 p.Ala557Thr Uncertain significance Single submitter
- ANKZF1 p.Ala624Val Uncertain significance Single submitter
- ANKZF1 p.Ala662Val Uncertain significance Single submitter
- ANKZF1 p.Ala667Thr Uncertain significance Single submitter
- ANKZF1 p.Arg179His Uncertain significance Single submitter
- ANKZF1 p.Arg225Gly Uncertain significance Single submitter
- ANKZF1 p.Arg249Trp Uncertain significance Single submitter
- ANKZF1 p.Arg265Cys Uncertain significance Single submitter
- ANKZF1 p.Arg265His Uncertain significance Single submitter
- ANKZF1 p.Arg276Cys Uncertain significance Single submitter
- ANKZF1 p.Arg297Cys Benign Single submitter
- ANKZF1 p.Arg300His Uncertain significance Single submitter
- ANKZF1 p.Arg320Gln Uncertain significance Single submitter
- ANKZF1 p.Arg338Cys Uncertain significance Single submitter
- ANKZF1 p.Arg338Gly Uncertain significance Single submitter
- ANKZF1 p.Arg354Trp Uncertain significance Single submitter
- ANKZF1 p.Arg436Gln Uncertain significance Single submitter
- ANKZF1 p.Arg436Trp Uncertain significance Single submitter
- ANKZF1 p.Arg439Ser Uncertain significance Single submitter
- ANKZF1 p.Arg456Trp Uncertain significance Single submitter
- ANKZF1 p.Arg567Gln Uncertain significance Single submitter
- ANKZF1 p.Arg569Trp Benign Single submitter
- ANKZF1 p.Arg581Cys Uncertain significance Single submitter
- ANKZF1 p.Arg581His Uncertain significance Single submitter
- ANKZF1 p.Arg613Gly Uncertain significance Single submitter
- ANKZF1 p.Arg613Trp Uncertain significance Single submitter
- ANKZF1 p.Arg617Trp Uncertain significance Single submitter
- ANKZF1 p.Arg625Gln Uncertain significance Single submitter
- ANKZF1 p.Arg625Trp Uncertain significance Single submitter
- ANKZF1 p.Arg628Trp Uncertain significance Single submitter
- ANKZF1 p.Arg634Lys Uncertain significance Single submitter
- ANKZF1 p.Arg641Cys Conflicting Single submitter
- ANKZF1 p.Arg641His Likely benign Single submitter
- ANKZF1 p.Arg643Gln Uncertain significance Single submitter
- ANKZF1 p.Arg643Gly Uncertain significance Single submitter
- ANKZF1 p.Arg647Gln Uncertain significance Single submitter
- ANKZF1 p.Arg647Trp Uncertain significance Single submitter
- ANKZF1 p.Arg655Gln Conflicting Single submitter
- ANKZF1 p.Arg655Gly Uncertain significance Single submitter
- ANKZF1 p.Arg655Leu Uncertain significance Single submitter
- ANKZF1 p.Arg664Cys Uncertain significance Single submitter
- ANKZF1 p.Arg665Leu Uncertain significance Single submitter
- ANKZF1 p.Arg712His Uncertain significance Single submitter
- ANKZF1 p.Arg719Cys Uncertain significance Single submitter
- ANKZF1 p.Arg719His Uncertain significance Single submitter
- ANKZF1 p.Arg97Gln Uncertain significance Single submitter
- ANKZF1 p.Arg97Trp Uncertain significance Single submitter
- ANKZF1 p.Asn267Ser Uncertain significance Single submitter
- ANKZF1 p.Asp134Tyr Uncertain significance Single submitter
- ANKZF1 p.Asp140Asn Uncertain significance Single submitter
- ANKZF1 p.Asp352His Uncertain significance Single submitter
- ANKZF1 p.Asp506Asn Uncertain significance Single submitter
- ANKZF1 p.Asp577Asn Uncertain significance Single submitter
- ANKZF1 p.Asp577His Uncertain significance Single submitter
- ANKZF1 p.Gln102Glu Uncertain significance Single submitter
- ANKZF1 p.Gln171Glu Uncertain significance Single submitter
- ANKZF1 p.Gln171Leu Uncertain significance Single submitter
- ANKZF1 p.Gln27Glu Likely benign Single submitter
- ANKZF1 p.Gln631Lys Uncertain significance Single submitter
- ANKZF1 p.Gln85His Uncertain significance Single submitter
- ANKZF1 p.Glu190Lys Uncertain significance Single submitter
- ANKZF1 p.Glu466Lys Uncertain significance Single submitter
- ANKZF1 p.Glu583Gly Uncertain significance Single submitter
- ANKZF1 p.Glu589Lys Uncertain significance Single submitter
- ANKZF1 p.Glu620Gly Uncertain significance Single submitter
- ANKZF1 p.Glu639Lys Uncertain significance Single submitter
- ANKZF1 p.Glu645Gly Uncertain significance Single submitter
- ANKZF1 p.Glu656Gln Uncertain significance Single submitter
- ANKZF1 p.Glu86Lys Likely benign Single submitter
- ANKZF1 p.Gly122Ala Uncertain significance Single submitter
- ANKZF1 p.Gly219Ser Uncertain significance Single submitter
- ANKZF1 p.Gly254Glu Uncertain significance Single submitter
- ANKZF1 p.Gly28Val Uncertain significance Single submitter
- ANKZF1 p.Gly317Val Uncertain significance Single submitter
- ANKZF1 p.Gly402Arg Uncertain significance Single submitter
- ANKZF1 p.Gly697Ala Uncertain significance Single submitter
- ANKZF1 p.His163Tyr Uncertain significance Single submitter
All ANKZF1 variants
Conflicting classifications of pathogenicity 7
- p.Arg146Gln Single submitter ⚠
- p.Arg156Gln Single submitter ⚠
- p.Arg448Gln Single submitter ⚠
- p.Arg641Cys Single submitter ⚠
- p.Arg655Gln Single submitter ⚠
- p.Tyr349His Single submitter ANKZF1-related disorder ⚠
- p.Val25Ile Single submitter ⚠
Benign 20
- p.Ala575= Multiple submitters
- p.Arg59Ser Multiple submitters
- p.Arg617Gln Multiple submitters ⚠
- p.Arg643= Multiple submitters
- p.Glu147Lys Multiple submitters
- p.Pro570Ser Multiple submitters ⚠
- p.Pro676Leu Multiple submitters
- p.Ser137Thr Multiple submitters
- p.Ser566Cys Multiple submitters ⚠
- p.Thr457Ile Multiple submitters ⚠
- p.Tyr272Cys Multiple submitters
- c.1049-6T>C Single submitter
- c.1804-17T>C Single submitter
- c.364+16G>A Single submitter
- c.558+17G>A Single submitter
- p.636QE[1] Single submitter
- p.Arg297Cys Single submitter ⚠
- p.Arg569Trp Single submitter ⚠
- p.Asp654= Single submitter
- p.Lys60= Single submitter
Benign/Likely benign 3
- p.Arg585Gln Multiple submitters ⚠
- p.Glu58Ala Multiple submitters
- p.Val369= Multiple submitters
Likely benign 201
- c.1048+20C>T Multiple submitters
- p.Leu527= Multiple submitters
- p.Pro188= Multiple submitters
- c.1048+11G>T Single submitter
- c.1048+12C>T Single submitter
- c.1048+16A>C Single submitter
- c.1048+20C>A Single submitter
- c.1048+22del Single submitter
- c.1049-12_1049-10del Single submitter
- c.1049-8T>C Single submitter
- c.1204+12A>C Single submitter
- c.1204+12A>G Single submitter
- c.1204+14C>T Single submitter
- c.1204+9A>G Single submitter
- c.1205-14A>G Single submitter
- c.1205-19_1205-18del Single submitter
- c.148+11A>T Single submitter
- c.148+18del Single submitter
- c.148+18G>C Single submitter
- c.148+7T>G Single submitter
- c.149-11_149-7del Single submitter
- c.149-16C>T Single submitter
- c.1691+10G>T Single submitter
- c.1691+13C>T Single submitter
- c.1691+16C>T Single submitter
- c.1692-5C>T Single submitter
- c.1692-8G>A Single submitter
- c.1803+16A>G Single submitter
- c.1803+20A>C Single submitter
- c.1803+7T>C Single submitter
- c.1803+8G>A Single submitter
- c.1804-10A>T Single submitter
- c.1804-12G>C Single submitter
- c.1804-4C>A Single submitter
- c.1804-6C>T Single submitter
- c.1971+7C>T Single submitter
- c.1971+9G>A Single submitter
- c.1971+9G>T Single submitter
- c.1972-13T>A Single submitter
- c.1972-14C>T Single submitter
- c.1972-18A>C Single submitter
- c.1972-18A>G Single submitter
- c.1972-19C>A Single submitter
- c.1972-5C>T Single submitter
- c.2057+11C>T Single submitter
- c.2057+12G>A Single submitter
- c.2057+13G>A Single submitter
- c.2057+14G>A Single submitter
- c.2057+16T>C Single submitter
- c.2057+19G>A Single submitter
- c.2057+20G>A Single submitter
- c.2057+5G>A Single submitter
- c.2058-12C>G Single submitter
- c.2058-12C>T Single submitter
- c.261+18G>A Single submitter
- c.261+20G>A Single submitter
- c.261+6dup Single submitter
- c.262-11C>G Single submitter
- c.262-20A>C Single submitter
- c.364+11G>A Single submitter
- c.364+15G>C Single submitter
- c.364+15G>T Single submitter
- c.364+16G>C Single submitter
- c.364+17G>T Single submitter
- c.364+18G>A Single submitter
- c.365-10C>T Single submitter
- c.365-12G>A Single submitter
- c.365-12G>T Single submitter
- c.365-6C>T Single submitter
- c.558+10A>C Single submitter
- c.559-11C>T Single submitter
- c.559-14T>C Single submitter
- c.559-17G>A Single submitter
- c.671+16A>C Single submitter
- c.671+18G>A Single submitter
- c.672-10C>G Single submitter
- c.672-14T>C Single submitter
- c.672-4A>G Single submitter
- c.672-9T>C Single submitter
- c.819+10G>C Single submitter
- c.819+8A>G Single submitter
- c.820-15T>C Single submitter
- c.820-17G>C Single submitter
- c.820-18A>C Single submitter
- c.820-19G>C Single submitter
- p.Ala149= Single submitter
- p.Ala287= Single submitter
- p.Ala35= Single submitter
- p.Ala391= Single submitter
- p.Ala41= Single submitter
- p.Ala501= Single submitter
- p.Arg148= Single submitter
- p.Arg242= Single submitter
- p.Arg370= Single submitter
- p.Arg436= Single submitter
- p.Arg439= Single submitter
- p.Arg45= Single submitter
- p.Arg503= Single submitter
- p.Arg547= Single submitter
- p.Arg552= Single submitter
- p.Arg613= Single submitter
- p.Arg641His Single submitter ⚠
- p.Asn598= Single submitter
- p.Asn598del Single submitter
- p.Asp18= Single submitter
- p.Asp387= Single submitter
- p.Asp506= Single submitter
- p.Cys207= Single submitter
- p.Gln102= Single submitter
- p.Gln27Glu Single submitter ⚠
- p.Gln460= Single submitter
- p.Gln463= Single submitter
- p.Gln669= Single submitter
- p.Gln720= Single submitter
- p.Gln82= Single submitter
- p.Glu371= Single submitter
- p.Glu379= Single submitter
- p.Glu414= Single submitter
- p.Glu464= Single submitter
- p.Glu485= Single submitter
- p.Glu583= Single submitter
- p.Glu637= Single submitter
- p.Glu642= Single submitter
- p.Glu86Lys Single submitter ⚠
- p.Gly129= Single submitter
- p.Gly247= Single submitter
- p.Gly28= Single submitter
- p.Gly311= Single submitter
- p.Gly317= Single submitter
- p.Gly407Glu Single submitter
- p.Gly535= Single submitter
- p.Gly692= Single submitter
- p.His360= Single submitter
- p.His84del Single submitter
- p.Ile68= Single submitter
- p.Ile682= Single submitter
- p.Leu110= Single submitter
- p.Leu141= Single submitter
- p.Leu144= Single submitter
- p.Leu154= Single submitter
- p.Leu199= Single submitter
- p.Leu210= Single submitter
- p.Leu278= Single submitter
- p.Leu279= Single submitter
- p.Leu288= Single submitter
- p.Leu29= Single submitter
- p.Leu305= Single submitter
- p.Leu326= Single submitter
- p.Leu336= Single submitter
- p.Leu346= Single submitter
- p.Leu359= Single submitter
- p.Leu392= Single submitter
- p.Leu417= Single submitter
- p.Leu433= Single submitter
- p.Leu514= Single submitter
- p.Leu526= Single submitter
- p.Leu553= Single submitter
- p.Leu652= Single submitter
- p.Leu666= Single submitter
- p.Lys389= Single submitter
- p.Lys440= Single submitter
- p.Lys590= Single submitter
- p.Phe233= Single submitter
- p.Phe26Leu Single submitter
- p.Phe333= Single submitter
- p.Pro255= Single submitter
- p.Pro299= Single submitter
- p.Pro3= Single submitter
- p.Pro313= Single submitter
- p.Pro489Ser Single submitter
- p.Pro492= Single submitter
- p.Pro608= Single submitter
- p.Pro724= Single submitter
- p.Ser119= Single submitter
- p.Ser125= Single submitter
- p.Ser128= Single submitter
- p.Ser13= Single submitter
- p.Ser2= Single submitter
- p.Ser201= Single submitter
- p.Ser405= Single submitter
- p.Ser51= Single submitter
- p.Ser533= Single submitter
- p.Ser680= Single submitter
- p.Ser69= Single submitter
- p.Ser694= Single submitter
- p.Thr143= Single submitter
- p.Thr270= Single submitter
- p.Thr345= Single submitter
- p.Thr457= Single submitter
- p.Thr469= Single submitter
- p.Thr573= Single submitter
- p.Thr607= Single submitter
- p.Thr674= Single submitter
- p.Tyr572= Single submitter
- p.Tyr595= Single submitter
- p.Val181= Single submitter
- p.Val275= Single submitter
- p.Val432= Single submitter
- p.Val574= Single submitter
- p.Val602= Single submitter
- p.Val683= Single submitter
Uncertain significance 498
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala251Asp Multiple submitters ⚠
- p.Ala269Thr Multiple submitters ⚠
- p.Ala287Val Multiple submitters ⚠
- p.Ala327Thr Multiple submitters ⚠
- p.Ala391Val Multiple submitters ⚠
- p.Ala486Thr Multiple submitters ⚠
- p.Ala529Val Multiple submitters ⚠
- p.Ala575Val Multiple submitters ⚠
- p.Arg103Cys Multiple submitters ⚠
- p.Arg103His Multiple submitters ⚠
- p.Arg146Trp Multiple submitters ⚠
- p.Arg179Cys Multiple submitters ⚠
- p.Arg235Cys Multiple submitters ⚠
- p.Arg235His Multiple submitters ⚠
- p.Arg239Trp Multiple submitters ⚠
- p.Arg242Trp Multiple submitters ⚠
- p.Arg249Gln Multiple submitters ⚠
- p.Arg252Gln Multiple submitters ⚠
- p.Arg252Ter Multiple submitters
- p.Arg297His Multiple submitters ⚠
- p.Arg300Cys Multiple submitters ⚠
- p.Arg300Gly Multiple submitters ⚠
- p.Arg303Trp Multiple submitters ⚠
- p.Arg329Cys Multiple submitters ⚠
- p.Arg329His Multiple submitters ANKZF1-related disorder ⚠
- p.Arg338His Multiple submitters ⚠
- p.Arg354Gln Multiple submitters ⚠
- p.Arg42Pro Multiple submitters ⚠
- p.Arg437Ser Multiple submitters ⚠
- p.Arg503Gln Multiple submitters ⚠
- p.Arg552His Multiple submitters ⚠
- p.Arg567Trp Multiple submitters ⚠
- p.Arg569Gln Multiple submitters ⚠
- p.Arg613Gln Multiple submitters ⚠
- p.Arg626Gln Multiple submitters ⚠
- p.Arg626Trp Multiple submitters ⚠
- p.Arg628Gln Multiple submitters ⚠
- p.Arg665Gln Multiple submitters ⚠
- p.Arg665Ter Multiple submitters ANKZF1-related disorder
- p.Arg687Cys Multiple submitters ⚠
- p.Arg687His Multiple submitters ⚠
- p.Arg712Cys Multiple submitters ⚠
- p.Arg718Cys Multiple submitters ⚠
- p.Arg718His Multiple submitters ⚠
- p.Asn442Ser Multiple submitters ⚠
- p.Asp114Glu Multiple submitters ⚠
- p.Asp596Asn Multiple submitters ⚠
- p.Cys428Phe Multiple submitters ⚠
- p.Gln142Glu Multiple submitters ⚠
- p.Gln394His Multiple submitters ⚠
- p.Gln463Leu Multiple submitters ⚠
- p.Gln513fs Multiple submitters ANKZF1-related disorder
- p.Gln720Glu Multiple submitters ⚠
- p.Glu131Gly Multiple submitters ⚠
- p.Glu139Asp Multiple submitters ⚠
- p.Glu152Lys Multiple submitters ⚠
- p.Glu193Lys Multiple submitters ⚠
- p.Glu226Gly Multiple submitters ⚠
- p.Glu351Asp Multiple submitters ⚠
- p.Glu397Gln Multiple submitters ⚠
- p.Glu451Lys Multiple submitters ⚠
- p.Gly219Asp Multiple submitters ⚠
- p.Gly281Ala Multiple submitters ANKZF1-related disorder ⚠
- p.His455Arg Multiple submitters ⚠
- p.His90Arg Multiple submitters ⚠
- p.Ile324Leu Multiple submitters ⚠
- p.Leu113Pro Multiple submitters ⚠
- p.Leu458Pro Multiple submitters ⚠
- p.Leu510Pro Multiple submitters ⚠
- p.Leu527Phe Multiple submitters ⚠
- p.Lys231Thr Multiple submitters ⚠
- p.Lys367Ile Multiple submitters ⚠
- p.Met588Thr Multiple submitters ⚠
- p.Met610Ile Multiple submitters ⚠
- p.Phe17Leu Multiple submitters ⚠
- p.Pro11Ser Multiple submitters ⚠
- p.Pro162Leu Multiple submitters ⚠
- p.Pro184Arg Multiple submitters ⚠
- p.Pro24Ala Multiple submitters ⚠
- p.Pro530Arg Multiple submitters ⚠
- p.Pro570Leu Multiple submitters ⚠
- p.Pro571Leu Multiple submitters ⚠
- p.Pro608Thr Multiple submitters ⚠
- p.Ser111Phe Multiple submitters ⚠
- p.Ser405Leu Multiple submitters ⚠
- p.Ser472Phe Multiple submitters ⚠
- p.Ser51Leu Multiple submitters ⚠
- p.Ser566Phe Multiple submitters ⚠
- p.Ser694Phe Multiple submitters ⚠
- p.Thr237Ala Multiple submitters ⚠
- p.Thr237Met Multiple submitters ⚠
- p.Thr674Ala Multiple submitters ⚠
- p.Tyr178Cys Multiple submitters ⚠
- p.Tyr572His Multiple submitters ⚠
- p.Val208Met Multiple submitters ⚠
- c.1049-3C>A Single submitter
- c.1049-5G>A Single submitter
- c.1204+1G>C Single submitter
- c.1204+3T>G Single submitter
- c.1205-2A>G Single submitter
- c.148+3A>G Single submitter
- c.148+6_148+17del Single submitter
- c.148+9_148+10delinsAC Single submitter
- c.149-20A>G Single submitter
- c.1691+5G>A Single submitter
- c.1692-2A>T Single submitter
- c.1803+2_1803+9del Single submitter
- c.1803+3C>A Single submitter
- c.1803+6C>G Single submitter
- c.1804-1G>A Single submitter
- c.1971+5G>A Single submitter
- c.1972-2A>C Single submitter
- c.1972-2dup Single submitter
- c.2057+1G>A Single submitter
- c.2057+4T>C Single submitter
- c.261+4A>G Single submitter
- c.261+5T>A Single submitter
- c.262-15_262-14del Single submitter
- c.262-1del Single submitter
- c.262-9T>G Single submitter
- c.364+5_364+7del Single submitter
- c.558+5G>A Single submitter
- c.671+10_671+11delinsGC Single submitter
- c.671+3G>T Single submitter
- c.671+4_671+11del Single submitter
- c.671+4A>C Single submitter
- c.671+6_671+7del Single submitter
- c.672-12_672-11del Single submitter
- c.819+6T>C Single submitter
- c.820-1G>C Single submitter
- c.820-1G>T Single submitter
- c.820-20T>G Single submitter
- c.820-3T>C Single submitter
- c.820-6_820-4del Single submitter
- p.Ala10fs Single submitter
- p.Ala112Ser Single submitter ⚠
- p.Ala213Val Single submitter ⚠
- p.Ala214Gly Single submitter ⚠
- p.Ala220Gly Single submitter ANKZF1-related disorder ⚠
- p.Ala280Glu Single submitter ⚠
- p.Ala280Pro Single submitter ⚠
- p.Ala280Thr Single submitter ⚠
- p.Ala298Val Single submitter ⚠
- p.Ala41fs Single submitter
- p.Ala452Pro Single submitter ⚠
- p.Ala4Ser Single submitter ⚠
- p.Ala500Ser Single submitter ⚠
- p.Ala501Ser Single submitter ⚠
- p.Ala529Thr Single submitter ⚠
- p.Ala542Ser Single submitter ⚠
- p.Ala542Val Single submitter ⚠
- p.Ala544Thr Single submitter ⚠
- p.Ala545Thr Single submitter ⚠
- p.Ala557Thr Single submitter ⚠
- p.Ala568Ser Single submitter ⚠
- p.Ala576Thr Single submitter ⚠
- p.Ala615fs Single submitter
- p.Ala624Val Single submitter ⚠
- p.Ala662Val Single submitter ⚠
- p.Ala667Thr Single submitter ⚠
- p.Ala672Val Single submitter ⚠
- p.Ala8Ser Single submitter ⚠
- p.Arg148Thr Single submitter ⚠
- p.Arg156Ter Single submitter
- p.Arg164Gln Single submitter ⚠
- p.Arg164Ter Single submitter
- p.Arg179fs Single submitter
- p.Arg179His Single submitter ⚠
- p.Arg225Gly Single submitter ⚠
- p.Arg239= Single submitter
- p.Arg242Gln Single submitter ⚠
- p.Arg242Pro Single submitter ⚠
- p.Arg249Trp Single submitter ⚠
- p.Arg252Gly Single submitter ⚠
- p.Arg265Cys Single submitter ⚠
- p.Arg265His Single submitter ⚠
- p.Arg276Cys Single submitter ⚠
- p.Arg276His Single submitter ⚠
- p.Arg300His Single submitter ⚠
- p.Arg320Gln Single submitter ⚠
- p.Arg320Ter Single submitter
- p.Arg338Cys Single submitter ⚠
- p.Arg338Gly Single submitter ⚠
- p.Arg338Pro Single submitter ⚠
- p.Arg354Trp Single submitter ⚠
- p.Arg358fs Single submitter
- p.Arg370Lys Single submitter ⚠
- p.Arg382del Single submitter
- p.Arg386Gly Single submitter ⚠
- p.Arg42Gly Single submitter ⚠
- p.Arg436Gln Single submitter ⚠
- p.Arg436Trp Single submitter ⚠
- p.Arg438Lys Single submitter ⚠
- p.Arg439del Single submitter
- p.Arg439Ser Single submitter ⚠
- p.Arg448Pro Single submitter ⚠
- p.Arg448Ter Single submitter
- p.Arg456Gln Single submitter ⚠
- p.Arg456Gly Single submitter ⚠
- p.Arg456Trp Single submitter ⚠
- p.Arg503Ter Single submitter
- p.Arg522Ser Single submitter ⚠
- p.Arg54Lys Single submitter ⚠
- p.Arg567fs Single submitter
- p.Arg567Gln Single submitter ⚠
- p.Arg581Cys Single submitter ⚠
- p.Arg581His Single submitter ⚠
- p.Arg585Ter Single submitter
- p.Arg59fs Single submitter
- p.Arg613Gly Single submitter ⚠
- p.Arg613Trp Single submitter ⚠
- p.Arg617Trp Single submitter ⚠
- p.Arg625Gln Single submitter ⚠
- p.Arg625Trp Single submitter ⚠
- p.Arg626Pro Single submitter ⚠
- p.Arg628Trp Single submitter ⚠
- p.Arg634Lys Single submitter ⚠
- p.Arg643Gln Single submitter ⚠
- p.Arg643Gly Single submitter ⚠
- p.Arg643Ter Single submitter
- p.Arg647fs Single submitter
- p.Arg647Gln Single submitter ⚠
- p.Arg647Trp Single submitter ⚠
- p.Arg648Ter Single submitter
- p.Arg655Gly Single submitter ⚠
- p.Arg655Leu Single submitter ⚠
- p.Arg655Ter Single submitter
- p.Arg658Ser Single submitter ⚠
- p.Arg664Cys Single submitter ⚠
- p.Arg665Leu Single submitter ⚠
- p.Arg686Gln Single submitter ⚠
- p.Arg686Ter Single submitter
- p.Arg712His Single submitter ⚠
- p.Arg719Cys Single submitter ⚠
- p.Arg719His Single submitter ⚠
- p.Arg97Gln Single submitter ⚠
- p.Arg97Trp Single submitter ⚠
- p.Asn198Lys Single submitter ⚠
- p.Asn267Ser Single submitter ⚠
- p.Asn395Lys Single submitter ⚠
- p.Asn442fs Single submitter
- p.Asn496Ser Single submitter ⚠
- p.Asn598_Lys599delinsLysAla Single submitter
- p.Asn83Asp Single submitter ⚠
- p.Asn83Thr Single submitter ⚠
- p.Asp134Tyr Single submitter ⚠
- p.Asp140Asn Single submitter ⚠
- p.Asp187Asn Single submitter ⚠
- p.Asp187Gly Single submitter ⚠
- p.Asp352His Single submitter ⚠
- p.Asp387Asn Single submitter ⚠
- p.Asp449Asn Single submitter ⚠
- p.Asp506Asn Single submitter ⚠
- p.Asp520Gly Single submitter ⚠
- p.Asp577Asn Single submitter ⚠
- p.Asp577His Single submitter ⚠
- p.Asp6His Single submitter ⚠
- p.Asp705Asn Single submitter ⚠
- p.Asp705Glu Single submitter ⚠
- p.Asp94Ala Single submitter ⚠
- p.Cys180Arg Single submitter ⚠
- p.Cys385= Single submitter
- p.Cys385Leu Single submitter
- p.Cys502Tyr Single submitter ⚠
- p.Cys688Tyr Single submitter ⚠
- p.Cys74Ser Single submitter ⚠
- p.Gln102Glu Single submitter ⚠
- p.Gln171Glu Single submitter ⚠
- p.Gln171Leu Single submitter ⚠
- p.Gln246fs Single submitter
- p.Gln246Ter Single submitter
- p.Gln337fs Single submitter
- p.Gln337Ter Single submitter
- p.Gln401fs Single submitter
- p.Gln412Ter Single submitter
- p.Gln601Arg Single submitter ⚠
- p.Gln601Ter Single submitter
- p.Gln621del Single submitter
- p.Gln631Glu Single submitter ⚠
- p.Gln631Lys Single submitter ⚠
- p.Gln632Ter Single submitter
- p.Gln635_Gln636del Single submitter
- p.Gln635Arg Single submitter ⚠
- p.Gln636fs Single submitter
- p.Gln638_Glu640del Single submitter
- p.Gln669His Single submitter ⚠
- p.Gln669Ter Single submitter
- p.Gln715Ter Single submitter
- p.Gln79Arg Single submitter ⚠
- p.Gln85His Single submitter ⚠
- p.Gln87= Single submitter
- p.Glu138_Glu139insAspSerAspSerAlaSerGlu Single submitter
- p.Glu138Asp Single submitter ⚠
- p.Glu190Lys Single submitter ⚠
- p.Glu290Gly Single submitter ⚠
- p.Glu290Lys Single submitter ⚠
- p.Glu290Ter Single submitter
- p.Glu351_Asp352delinsAspHis Single submitter
- p.Glu351Lys Single submitter ⚠
- p.Glu371fs Single submitter