FCSK — 671 ClinVar variants
All ClinVar germline FCSK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 370 flagged for review →
1 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 22 Conflicting · 28 Benign · 13 Benign/Likely benign · 195 Likely benign · 406 Uncertain significance
Full FCSK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 370
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 14
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- FCSK p.Ala629Gly Conflicting Single submitter
- FCSK p.Ala858Thr Conflicting Single submitter
- FCSK p.Arg235His Conflicting Single submitter
- FCSK p.Arg415Trp Conflicting Single submitter
- FCSK p.Arg571His Conflicting Single submitter
- FCSK p.Arg579Cys Conflicting Single submitter
- FCSK p.Arg621His Conflicting Single submitter
-
FCSK p.Arg784Gln
Conflicting
Single submitter
FCSK-related disorder
- FCSK p.Arg965Gln Conflicting Single submitter
- FCSK p.Cys985Tyr Conflicting Single submitter
- FCSK p.Lys922Gln Conflicting Single submitter
- FCSK p.Phe1083Tyr Conflicting Single submitter
-
FCSK p.Pro375Arg
Conflicting
Single submitter
FCSK-related disorder
- FCSK p.Pro756Leu Conflicting Single submitter
Predictors lean, ClinVar uncertain 273
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 273
- FCSK p.Ala297Val Uncertain significance Multiple submitters
- FCSK p.Ala348Ser Uncertain significance Multiple submitters
- FCSK p.Ala481Thr Uncertain significance Multiple submitters
- FCSK p.Ala518Val Uncertain significance Multiple submitters
- FCSK p.Ala554Val Uncertain significance Multiple submitters
-
FCSK p.Ala558Val
Uncertain significance
Multiple submitters
congenital disorder of glycosylation with defective fucosylation 2
- FCSK p.Ala603Thr Uncertain significance Multiple submitters
-
FCSK p.Ala652Val
Uncertain significance
Multiple submitters
congenital disorder of glycosylation with defective fucosylation 2
- FCSK p.Ala763Val Uncertain significance Multiple submitters
- FCSK p.Ala798Val Uncertain significance Multiple submitters
- FCSK p.Ala870Thr Uncertain significance Multiple submitters
- FCSK p.Ala902Pro Uncertain significance Multiple submitters
- FCSK p.Arg1007His Uncertain significance Multiple submitters
-
FCSK p.Arg169Gln
Uncertain significance
Multiple submitters
neurodevelopmental disorder
- FCSK p.Arg169Trp Uncertain significance Multiple submitters
- FCSK p.Arg312Cys Uncertain significance Multiple submitters
- FCSK p.Arg312His Uncertain significance Multiple submitters
- FCSK p.Arg35Trp Uncertain significance Multiple submitters
-
FCSK p.Arg527Cys
Uncertain significance
Multiple submitters
congenital disorder of glycosylation with defective fucosylation 2
- FCSK p.Arg53His Uncertain significance Multiple submitters
-
FCSK p.Arg547Gln
Uncertain significance
Multiple submitters
congenital disorder of glycosylation with defective fucosylation 2
- FCSK p.Arg547Trp Uncertain significance Multiple submitters
- FCSK p.Arg636Trp Uncertain significance Multiple submitters
- FCSK p.Arg714Cys Uncertain significance Multiple submitters
- FCSK p.Arg741Gln Uncertain significance Multiple submitters
- FCSK p.Arg745His Uncertain significance Multiple submitters
-
FCSK p.Arg74Gln
Uncertain significance
Multiple submitters
congenital disorder of glycosylation with defective fucosylation 2
- FCSK p.Arg784Trp Uncertain significance Multiple submitters
- FCSK p.Arg901Gln Uncertain significance Multiple submitters
- FCSK p.Arg936Cys Uncertain significance Multiple submitters
- FCSK p.Arg936His Uncertain significance Multiple submitters
- FCSK p.Asn456Ser Uncertain significance Multiple submitters
-
FCSK p.Asn631Ser
Uncertain significance
Multiple submitters
congenital disorder of glycosylation with defective fucosylation 2
- FCSK p.Asp103Glu Uncertain significance Multiple submitters
- FCSK p.Asp472Asn Uncertain significance Multiple submitters
- FCSK p.Cys110Ser Uncertain significance Multiple submitters
- FCSK p.Gln359His Uncertain significance Multiple submitters
- FCSK p.Glu1076Lys Uncertain significance Multiple submitters
- FCSK p.Glu117Lys Uncertain significance Multiple submitters
- FCSK p.Glu656Lys Uncertain significance Multiple submitters
- FCSK p.Glu909Lys Uncertain significance Multiple submitters
- FCSK p.Gly1028Val Uncertain significance Multiple submitters
- FCSK p.Gly584Arg Uncertain significance Multiple submitters
- FCSK p.Gly837Ser Uncertain significance Multiple submitters
- FCSK p.His430Gln Uncertain significance Multiple submitters
- FCSK p.Ile350Thr Uncertain significance Multiple submitters
- FCSK p.Leu568Phe Uncertain significance Multiple submitters
- FCSK p.Leu731Arg Uncertain significance Multiple submitters
-
FCSK p.Lys557Glu
Uncertain significance
Multiple submitters
congenital disorder of glycosylation with defective fucosylation 2
- FCSK p.Met95Thr Uncertain significance Multiple submitters
- FCSK p.Pro1084Leu Uncertain significance Multiple submitters
- FCSK p.Pro259Thr Uncertain significance Multiple submitters
- FCSK p.Pro535Leu Uncertain significance Multiple submitters
- FCSK p.Pro583Leu Uncertain significance Multiple submitters
- FCSK p.Pro632Ala Uncertain significance Multiple submitters
- FCSK p.Pro756Arg Uncertain significance Multiple submitters
- FCSK p.Ser142Cys Uncertain significance Multiple submitters
-
FCSK p.Ser223Pro
Uncertain significance
Multiple submitters
congenital disorder of glycosylation with defective fucosylation 2
- FCSK p.Ser327Arg Uncertain significance Multiple submitters
- FCSK p.Thr427Met Uncertain significance Multiple submitters
- FCSK p.Thr478Met Uncertain significance Multiple submitters
- FCSK p.Thr542Met Uncertain significance Multiple submitters
- FCSK p.Thr724Met Uncertain significance Multiple submitters
- FCSK p.Thr864Met Uncertain significance Multiple submitters
- FCSK p.Tyr320Cys Uncertain significance Multiple submitters
- FCSK p.Tyr320Phe Uncertain significance Multiple submitters
- FCSK p.Val1061Ala Uncertain significance Multiple submitters
- FCSK p.Val188Ile Uncertain significance Multiple submitters
- FCSK p.Val31Met Uncertain significance Multiple submitters
- FCSK p.Val383Ile Uncertain significance Multiple submitters
- FCSK p.Val440Ala Uncertain significance Multiple submitters
- FCSK p.Val440Leu Uncertain significance Multiple submitters
- FCSK p.Val613Ile Uncertain significance Multiple submitters
- FCSK p.Val650Met Uncertain significance Multiple submitters
- FCSK p.Val735Leu Uncertain significance Multiple submitters
- FCSK p.Ala107Asp Uncertain significance Single submitter
- FCSK p.Ala118Ser Uncertain significance Single submitter
- FCSK p.Ala122Asp Uncertain significance Single submitter
- FCSK p.Ala159Glu Uncertain significance Single submitter
- FCSK p.Ala171Thr Uncertain significance Single submitter
- FCSK p.Ala175Thr Uncertain significance Single submitter
- FCSK p.Ala183Ser Uncertain significance Single submitter
- FCSK p.Ala305Thr Uncertain significance Single submitter
- FCSK p.Ala333Thr Uncertain significance Single submitter
- FCSK p.Ala345Thr Uncertain significance Single submitter
- FCSK p.Ala470Gly Uncertain significance Single submitter
- FCSK p.Ala470Val Uncertain significance Single submitter
- FCSK p.Ala540Val Uncertain significance Single submitter
- FCSK p.Ala541Thr Uncertain significance Single submitter
- FCSK p.Ala576Asp Uncertain significance Single submitter
- FCSK p.Ala576Ser Uncertain significance Single submitter
- FCSK p.Ala603Val Uncertain significance Single submitter
- FCSK p.Ala654Val Uncertain significance Single submitter
- FCSK p.Ala685Gly Uncertain significance Single submitter
- FCSK p.Ala853Asp Uncertain significance Single submitter
- FCSK p.Ala858Ser Uncertain significance Single submitter
- FCSK p.Arg1007Cys Uncertain significance Single submitter
- FCSK p.Arg1007Leu Uncertain significance Single submitter
- FCSK p.Arg137Trp Uncertain significance Single submitter
- FCSK p.Arg235Cys Uncertain significance Single submitter
- FCSK p.Arg258Gln Uncertain significance Single submitter
- FCSK p.Arg258Trp Uncertain significance Single submitter
- FCSK p.Arg35Gln Uncertain significance Single submitter
- FCSK p.Arg418Cys Uncertain significance Single submitter
- FCSK p.Arg442Cys Uncertain significance Single submitter
- FCSK p.Arg442His Uncertain significance Single submitter
- FCSK p.Arg442Leu Uncertain significance Single submitter
- FCSK p.Arg469Gln Uncertain significance Single submitter
- FCSK p.Arg520Gln Uncertain significance Single submitter
- FCSK p.Arg523Gln Uncertain significance Single submitter
- FCSK p.Arg523Leu Uncertain significance Single submitter
- FCSK p.Arg539Gly Uncertain significance Single submitter
- FCSK p.Arg539Trp Uncertain significance Single submitter
- FCSK p.Arg552His Uncertain significance Single submitter
- FCSK p.Arg559Gly Uncertain significance Single submitter
- FCSK p.Arg565Trp Uncertain significance Single submitter
- FCSK p.Arg571Leu Uncertain significance Single submitter
- FCSK p.Arg579Leu Uncertain significance Single submitter
- FCSK p.Arg605Gln Uncertain significance Single submitter
- FCSK p.Arg625Trp Uncertain significance Single submitter
- FCSK p.Arg683Leu Uncertain significance Single submitter
- FCSK p.Arg714Ser Uncertain significance Single submitter
- FCSK p.Arg767Trp Uncertain significance Single submitter
- FCSK p.Arg778Gln Uncertain significance Single submitter
- FCSK p.Arg820Cys Uncertain significance Single submitter
- FCSK p.Arg860Gln Uncertain significance Single submitter
- FCSK p.Arg860Trp Uncertain significance Single submitter
- FCSK p.Arg97Gln Uncertain significance Single submitter
-
FCSK p.Asn1055Ser
Uncertain significance
Single submitter
neurodevelopmental disorder
- FCSK p.Asn185Thr Uncertain significance Single submitter
- FCSK p.Asn924Ser Uncertain significance Single submitter
-
FCSK p.Asp132His
Uncertain significance
Single submitter
congenital disorder of glycosylation with defective fucosylation 2
-
FCSK p.Asp293Asn
Uncertain significance
Single submitter
congenital disorder of glycosylation with defective fucosylation 2
- FCSK p.Asp293Val Uncertain significance Single submitter
- FCSK p.Asp313Asn Uncertain significance Single submitter
- FCSK p.Asp472Ala Uncertain significance Single submitter
- FCSK p.Asp658Glu Uncertain significance Single submitter
- FCSK p.Asp83Asn Uncertain significance Single submitter
- FCSK p.Asp98Glu Uncertain significance Single submitter
- FCSK p.Asp98Gly Uncertain significance Single submitter
- FCSK p.Cys1081Tyr Uncertain significance Single submitter
- FCSK p.Cys609Phe Uncertain significance Single submitter
- FCSK p.Cys643Tyr Uncertain significance Single submitter
- FCSK p.Gln210Glu Uncertain significance Single submitter
- FCSK p.Gln23Arg Uncertain significance Single submitter
- FCSK p.Gln377Arg Uncertain significance Single submitter
- FCSK p.Gln449His Uncertain significance Single submitter
- FCSK p.Gln697His Uncertain significance Single submitter
- FCSK p.Gln768His Uncertain significance Single submitter
- FCSK p.Gln813His Uncertain significance Single submitter
Predictors split 83
The independent predictors disagree with each other — read with care.
- FCSK p.Ala611Val Uncertain significance Multiple submitters
- FCSK p.Ala63Thr Uncertain significance Multiple submitters
- FCSK p.Arg1006Trp Uncertain significance Multiple submitters
-
FCSK p.Arg32Trp
Uncertain significance
Multiple submitters
congenital disorder of glycosylation with defective fucosylation 2
- FCSK p.Arg523Trp Uncertain significance Multiple submitters
- FCSK p.Arg527His Uncertain significance Multiple submitters
- FCSK p.Arg546Cys Uncertain significance Multiple submitters
- FCSK p.Arg559Trp Uncertain significance Multiple submitters
- FCSK p.Arg683His Uncertain significance Multiple submitters
- FCSK p.Arg753Leu Uncertain significance Multiple submitters
- FCSK p.Arg754Cys Uncertain significance Multiple submitters
- FCSK p.Arg778Trp Uncertain significance Multiple submitters
- FCSK p.Arg899Cys Uncertain significance Multiple submitters
- FCSK p.Arg899His Uncertain significance Multiple submitters
- FCSK p.Arg939Gln Benign Multiple submitters
- FCSK p.Arg965Trp Uncertain significance Multiple submitters
- FCSK p.Cys125Tyr Uncertain significance Multiple submitters
- FCSK p.Gly744Ser Uncertain significance Multiple submitters
- FCSK p.His1015Asp Uncertain significance Multiple submitters
- FCSK p.Leu138Pro Uncertain significance Multiple submitters
-
FCSK p.Met996Thr
Uncertain significance
Multiple submitters
congenital disorder of glycosylation with defective fucosylation 2
- FCSK p.Phe228Tyr Benign/Likely benign Multiple submitters
- FCSK p.Phe462Ser Uncertain significance Multiple submitters
- FCSK p.Phe717Leu Uncertain significance Multiple submitters
- FCSK p.Pro143Leu Uncertain significance Multiple submitters
-
FCSK p.Pro392Arg
Uncertain significance
Multiple submitters
congenital disorder of glycosylation with defective fucosylation 2
- FCSK p.Val146Met Likely benign Multiple submitters
- FCSK p.Ala1013Val Uncertain significance Single submitter
- FCSK p.Ala436Pro Uncertain significance Single submitter
- FCSK p.Ala606Thr Uncertain significance Single submitter
- FCSK p.Ala713Gly Uncertain significance Single submitter
- FCSK p.Ala794Ser Uncertain significance Single submitter
- FCSK p.Arg211Trp Uncertain significance Single submitter
- FCSK p.Arg489His Uncertain significance Single submitter
- FCSK p.Arg621Cys Uncertain significance Single submitter
- FCSK p.Arg672Gly Uncertain significance Single submitter
- FCSK p.Arg672His Uncertain significance Single submitter
-
FCSK p.Arg683Cys
Conflicting
Single submitter
congenital disorder of glycosylation with defective fucosylation 2
- FCSK p.Arg753Cys Uncertain significance Single submitter
- FCSK p.Arg753His Uncertain significance Single submitter
- FCSK p.Arg778Pro Uncertain significance Single submitter
- FCSK p.Arg856Gln Uncertain significance Single submitter
- FCSK p.Arg975Cys Uncertain significance Single submitter
- FCSK p.Arg975His Uncertain significance Single submitter
- FCSK p.Asp254Glu Uncertain significance Single submitter
- FCSK p.Asp419Ala Uncertain significance Single submitter
- FCSK p.Asp514Tyr Uncertain significance Single submitter
- FCSK p.Asp944Glu Uncertain significance Single submitter
- FCSK p.Gln532His Uncertain significance Single submitter
- FCSK p.Gln788Arg Uncertain significance Single submitter
- FCSK p.Gly1052Asp Uncertain significance Single submitter
- FCSK p.Gly256Arg Benign Single submitter
- FCSK p.Gly627Glu Uncertain significance Single submitter
- FCSK p.Gly676Arg Uncertain significance Single submitter
- FCSK p.Gly823Arg Uncertain significance Single submitter
-
FCSK p.His1015Asn
Conflicting
Single submitter
congenital disorder of glycosylation with defective fucosylation 2
- FCSK p.Ile200Thr Uncertain significance Single submitter
- FCSK p.Leu154Arg Uncertain significance Single submitter
- FCSK p.Leu509Pro Uncertain significance Single submitter
- FCSK p.Leu555Pro Uncertain significance Single submitter
- FCSK p.Leu818Met Uncertain significance Single submitter
- FCSK p.Leu953Phe Uncertain significance Single submitter
-
FCSK p.Lys994Gln
Conflicting
Single submitter
congenital disorder of glycosylation with defective fucosylation 2
- FCSK p.Met134Thr Uncertain significance Single submitter
- FCSK p.Phe227Leu Uncertain significance Single submitter
- FCSK p.Phe281Leu Uncertain significance Single submitter
- FCSK p.Pro1014Arg Uncertain significance Single submitter
- FCSK p.Pro112Leu Benign Single submitter
- FCSK p.Pro158Ser Uncertain significance Single submitter
- FCSK p.Pro180Leu Uncertain significance Single submitter
- FCSK p.Pro243Leu Uncertain significance Single submitter
- FCSK p.Pro392Ser Uncertain significance Single submitter
- FCSK p.Pro39Thr Uncertain significance Single submitter
- FCSK p.Pro572Leu Uncertain significance Single submitter
- FCSK p.Pro758Ala Uncertain significance Single submitter
- FCSK p.Pro998Ala Uncertain significance Single submitter
- FCSK p.Ser900Thr Uncertain significance Single submitter
- FCSK p.Thr438Asn Uncertain significance Single submitter
- FCSK p.Thr81Ile Uncertain significance Single submitter
- FCSK p.Tyr729His Uncertain significance Single submitter
- FCSK p.Val421Gly Uncertain significance Single submitter
- FCSK p.Val806Met Uncertain significance Single submitter
- FCSK p.Val888Ile Uncertain significance Single submitter
All FCSK variants
Pathogenic/Likely pathogenic 1
- p.Glu335fs Multiple submitters congenital disorder of glycosylation with defective fucosylation 2
Likely pathogenic 6
- c.412-2A>G Multiple submitters congenital disorder of glycosylation with defective fucosylation 2
- c.956-1G>A Single submitter congenital disorder of glycosylation with defective fucosylation 2
- p.Cys399Ter Single submitter congenital disorder of glycosylation with defective fucosylation 2
- p.Pro180fs Single submitter congenital disorder of glycosylation with defective fucosylation 2
- p.Pro287fs Single submitter congenital disorder of glycosylation with defective fucosylation 2
- p.Ter1085Trp Single submitter congenital disorder of glycosylation with defective fucosylation 2
Conflicting classifications of pathogenicity 22
- c.1407-1G>C Single submitter congenital disorder of glycosylation with defective fucosylation 2
- c.82+8A>G Single submitter congenital disorder of glycosylation with defective fucosylation 2
- p.Ala348fs Single submitter congenital disorder of glycosylation with defective fucosylation 2
- p.Ala629Gly Single submitter ⚠
- p.Ala858Thr Single submitter ⚠
- p.Arg235His Single submitter ⚠
- p.Arg415Trp Single submitter ⚠
- p.Arg571His Single submitter ⚠
- p.Arg579Cys Single submitter ⚠
- p.Arg621His Single submitter ⚠
- p.Arg683Cys Single submitter congenital disorder of glycosylation with defective fucosylation 2 ⚠
- p.Arg741Ter Single submitter congenital disorder of glycosylation with defective fucosylation 2
- p.Arg784Gln Single submitter FCSK-related disorder ⚠
- p.Arg965Gln Single submitter ⚠
- p.Cys985Tyr Single submitter ⚠
- p.His1015Asn Single submitter congenital disorder of glycosylation with defective fucosylation 2 ⚠
- p.Lys922Gln Single submitter ⚠
- p.Lys994Gln Single submitter congenital disorder of glycosylation with defective fucosylation 2 ⚠
- p.Phe1083Tyr Single submitter ⚠
- p.Pro375Arg Single submitter FCSK-related disorder ⚠
- p.Pro756Leu Single submitter ⚠
- p.Val225fs Single submitter congenital disorder of glycosylation with defective fucosylation 2
Benign 28
- c.582+16A>G Multiple submitters
- p.Ala107= Multiple submitters
- p.Ala46= Multiple submitters
- p.Ala521Thr Multiple submitters
- p.Arg939Gln Multiple submitters ⚠
- p.Asp886= Multiple submitters
- p.Ile174= Multiple submitters
- p.Leu253= Multiple submitters
- p.Leu360= Multiple submitters
- p.Pro4= Multiple submitters
- p.Pro476= Multiple submitters congenital disorder of glycosylation with defective fucosylation 2
- p.Pro701= Multiple submitters
- p.Val861Met Multiple submitters
- c.2522-9G>A Single submitter
- c.2929+23dup Single submitter
- c.2929+8del Single submitter
- c.3153+4C>T Single submitter
- c.412-5C>A Single submitter
- p.Arg418His Single submitter
- p.Asp1010= Single submitter
- p.Glu357= Single submitter
- p.Gly256Arg Single submitter ⚠
- p.Pro112Leu Single submitter ⚠
- p.Pro180= Single submitter
- p.Ser626= Single submitter
- p.Ser810Leu Single submitter
- p.Ser962Arg Single submitter
- c.-8T>G No assertion criteria FCSK-related disorder
Benign/Likely benign 13
- c.234+17G>A Multiple submitters
- c.2641+4T>G Multiple submitters
- c.484+18T>C Multiple submitters
- p.Ala348= Multiple submitters
- p.Arg901Trp Multiple submitters
- p.Asn275Ser Multiple submitters
- p.Ile268= Multiple submitters
- p.Leu127= Multiple submitters
- p.Phe228Tyr Multiple submitters ⚠
- p.Pro701Leu Multiple submitters
- p.Ser988= Multiple submitters
- p.Thr1075= Multiple submitters
- p.Thr914Met Multiple submitters
Likely benign 195
- c.1170+14G>A Multiple submitters
- c.2378-7dup Multiple submitters
- c.2521+7G>A Multiple submitters
- c.2522-10C>T Multiple submitters
- c.286-9G>A Multiple submitters
- p.Ala558= Multiple submitters
- p.Arg745= Multiple submitters
- p.Glu651= Multiple submitters
- p.Gly450= Multiple submitters
- p.Pro112= Multiple submitters
- p.Pro433= Multiple submitters
- p.Ser487= Multiple submitters
- p.Thr772Ala Multiple submitters
- p.Tyr454= Multiple submitters
- p.Val146Met Multiple submitters ⚠
- p.Val84= Multiple submitters
- c.1068+11C>G Single submitter
- c.1068+17C>T Single submitter
- c.1068+18C>G Single submitter
- c.1068+18C>T Single submitter
- c.1068+20C>T Single submitter
- c.1069-17C>G Single submitter
- c.1170+7C>A Single submitter
- c.1341+12C>T Single submitter
- c.1341+17C>A Single submitter
- c.1341+1G>C Single submitter
- c.1341+20T>C Single submitter
- c.1777+14C>G Single submitter
- c.1778-20C>T Single submitter
- c.1988+13G>A Single submitter
- c.1988+15A>C Single submitter
- c.1989-14C>T Single submitter
- c.1989-17C>T Single submitter
- c.1989-20C>G Single submitter
- c.2156-11C>G Single submitter
- c.234+12C>G Single submitter
- c.235-18G>C Single submitter
- c.235-27G>T Single submitter
- c.235-46G>A Single submitter
- c.2378-4G>A Single submitter
- c.2521+14G>A Single submitter
- c.2521+17T>G Single submitter
- c.2521+8G>A Single submitter
- c.2522-17T>C Single submitter
- c.2522-18C>G Single submitter
- c.2522-7C>G Single submitter
- c.2641+11_2641+12insGTGCTCAC Single submitter
- c.2641+13C>A Single submitter
- c.2641+18A>T Single submitter
- c.2642-12C>T Single submitter
- c.2830-12C>G Single submitter
- c.2830-4G>A Single submitter
- c.2830-9C>T Single submitter
- c.285+12T>C Single submitter
- c.285+17G>A Single submitter
- c.2929+16T>G Single submitter
- c.2929+8G>A Single submitter
- c.2930-8C>T Single submitter
- c.3153+12G>A Single submitter
- c.3153+9G>A Single submitter
- c.411+20C>T Single submitter
- c.412-5C>G Single submitter
- c.412-6C>G Single submitter
- c.412-6C>T Single submitter
- c.412-8C>A Single submitter
- c.412-9C>G Single submitter
- c.484+16C>T Single submitter
- c.582+15G>A Single submitter
- c.583-10C>T Single submitter
- c.583-11C>G Single submitter
- c.583-20C>G Single submitter
- c.783+15G>A Single submitter
- c.82+17C>T Single submitter
- c.83-11T>C Single submitter
- c.-22-4T>C Single submitter
- p.Ala238= Single submitter
- p.Ala294= Single submitter
- p.Ala297= Single submitter
- p.Ala362= Single submitter
- p.Ala524Ser Single submitter
- p.Ala544= Single submitter
- p.Ala603= Single submitter
- p.Ala648= Single submitter
- p.Ala648Val Single submitter
- p.Ala652= Single submitter
- p.Ala689= Single submitter
- p.Ala734= Single submitter
- p.Ala798= Single submitter
- p.Ala857= Single submitter
- p.Ala971= Single submitter
- p.Arg218Gln Single submitter
- p.Arg312= Single submitter
- p.Arg428Gln Single submitter
- p.Arg547= Single submitter
- p.Arg579= Single submitter
- p.Arg625Gln Single submitter
- p.Arg663= Single submitter
- p.Arg939Trp Single submitter
- p.Asn275= Single submitter
- p.Asn456= Single submitter
- p.Asn62= Single submitter
- p.Asn631= Single submitter
- p.Asp254= Single submitter
- p.Asp612= Single submitter
- p.Asp645= Single submitter
- p.Asp743= Single submitter
- p.Gln358= Single submitter
- p.Gln697Pro Single submitter
- p.Glu121= Single submitter
- p.Glu234= Single submitter
- p.Glu373= Single submitter
- p.Glu482= Single submitter
- p.Glu517Lys Single submitter
- p.Glu642= Single submitter
- p.Glu911= Single submitter
- p.Glu912= Single submitter
- p.Gly1028= Single submitter
- p.Gly145= Single submitter
- p.Gly217= Single submitter
- p.Gly381= Single submitter
- p.Gly396= Single submitter
- p.Gly623= Single submitter
- p.Gly649= Single submitter
- p.Gly676= Single submitter
- p.Gly704= Single submitter
- p.Gly737= Single submitter
- p.Gly744= Single submitter
- p.Gly824= Single submitter
- p.Gly883= Single submitter
- p.His240Arg Single submitter
- p.His430= Single submitter
- p.His560= Single submitter
- p.His836= Single submitter
- p.Ile13= Single submitter
- p.Ile895= Single submitter
- p.Leu1030= Single submitter
- p.Leu338= Single submitter
- p.Leu371= Single submitter
- p.Leu378= Single submitter
- p.Leu404= Single submitter
- p.Leu417= Single submitter
- p.Leu422= Single submitter
- p.Leu439= Single submitter
- p.Leu479= Single submitter
- p.Leu528= Single submitter
- p.Leu570= Single submitter
- p.Leu586= Single submitter
- p.Leu795= Single submitter
- p.Leu906= Single submitter
- p.Leu91= Single submitter
- p.Leu946= Single submitter
- p.Leu981= Single submitter
- p.Phe462= Single submitter
- p.Pro1084= Single submitter
- p.Pro116= Single submitter
- p.Pro140= Single submitter
- p.Pro243= Single submitter
- p.Pro480= Single submitter
- p.Pro492= Single submitter
- p.Pro583= Single submitter
- p.Pro712= Single submitter
- p.Ser255= Single submitter
- p.Ser56= Single submitter
- p.Ser810= Single submitter
- p.Ser82= Single submitter
- p.Ser838= Single submitter
- p.Ser87= Single submitter
- p.Thr1050= Single submitter
- p.Thr151= Single submitter
- p.Thr427Arg Single submitter
- p.Thr478= Single submitter
- p.Thr542= Single submitter
- p.Thr589= Single submitter
- p.Thr724= Single submitter
- p.Thr849Ala Single submitter
- p.Thr864= Single submitter
- p.Tyr931= Single submitter
- p.Val376= Single submitter
- p.Val383= Single submitter
- p.Val457= Single submitter
- p.Val457Met Single submitter
- p.Val650= Single submitter
- p.Val668= Single submitter
- p.Val693= Single submitter
- p.Val715= Single submitter
- p.Val742= Single submitter
- p.Val773= Single submitter
- p.Val808= Single submitter
- p.Val888= Single submitter
- p.Arg137= No assertion criteria FCSK-related disorder
- p.Leu154= No assertion criteria FCSK-related disorder
- p.Leu500= No assertion criteria FCSK-related disorder
- p.Phe463= No assertion criteria FCSK-related disorder
- p.Pro572= No assertion criteria FCSK-related disorder
- p.Thr772= No assertion criteria FCSK-related disorder
Uncertain significance 406
Showing the top 300 by review status; the full set is in the sitemap.
- c.485-2A>G Multiple submitters
- p.Ala297Val Multiple submitters ⚠
- p.Ala348Ser Multiple submitters ⚠
- p.Ala481Thr Multiple submitters ⚠
- p.Ala488Thr Multiple submitters
- p.Ala518Val Multiple submitters ⚠
- p.Ala554Val Multiple submitters ⚠
- p.Ala558Val Multiple submitters congenital disorder of glycosylation with defective fucosylation 2 ⚠
- p.Ala603Thr Multiple submitters ⚠
- p.Ala611Val Multiple submitters ⚠
- p.Ala63Thr Multiple submitters ⚠
- p.Ala652Val Multiple submitters congenital disorder of glycosylation with defective fucosylation 2 ⚠
- p.Ala763Val Multiple submitters ⚠
- p.Ala798Val Multiple submitters ⚠
- p.Ala870Thr Multiple submitters ⚠
- p.Ala902Pro Multiple submitters ⚠
- p.Arg1006Trp Multiple submitters ⚠
- p.Arg1007His Multiple submitters ⚠
- p.Arg169Gln Multiple submitters neurodevelopmental disorder ⚠
- p.Arg169Trp Multiple submitters ⚠
- p.Arg304Gln Multiple submitters
- p.Arg312Cys Multiple submitters ⚠
- p.Arg312His Multiple submitters ⚠
- p.Arg32Trp Multiple submitters congenital disorder of glycosylation with defective fucosylation 2 ⚠
- p.Arg35Trp Multiple submitters ⚠
- p.Arg523Trp Multiple submitters ⚠
- p.Arg527Cys Multiple submitters congenital disorder of glycosylation with defective fucosylation 2 ⚠
- p.Arg527His Multiple submitters ⚠
- p.Arg53His Multiple submitters ⚠
- p.Arg546Cys Multiple submitters ⚠
- p.Arg547Gln Multiple submitters congenital disorder of glycosylation with defective fucosylation 2 ⚠
- p.Arg547Trp Multiple submitters ⚠
- p.Arg559Trp Multiple submitters ⚠
- p.Arg605Trp Multiple submitters congenital disorder of glycosylation with defective fucosylation 2
- p.Arg636Trp Multiple submitters ⚠
- p.Arg669Gln Multiple submitters
- p.Arg669Ter Multiple submitters
- p.Arg683His Multiple submitters ⚠
- p.Arg714Cys Multiple submitters ⚠
- p.Arg741Gln Multiple submitters ⚠
- p.Arg745His Multiple submitters ⚠
- p.Arg74Gln Multiple submitters congenital disorder of glycosylation with defective fucosylation 2 ⚠
- p.Arg753Leu Multiple submitters ⚠
- p.Arg754Cys Multiple submitters ⚠
- p.Arg778Trp Multiple submitters ⚠
- p.Arg784Trp Multiple submitters ⚠
- p.Arg899Cys Multiple submitters ⚠
- p.Arg899His Multiple submitters ⚠
- p.Arg901Gln Multiple submitters ⚠
- p.Arg936Cys Multiple submitters ⚠
- p.Arg936His Multiple submitters ⚠
- p.Arg965Pro Multiple submitters
- p.Arg965Trp Multiple submitters ⚠
- p.Asn456Ser Multiple submitters ⚠
- p.Asn631Ser Multiple submitters congenital disorder of glycosylation with defective fucosylation 2 ⚠
- p.Asp103Glu Multiple submitters ⚠
- p.Asp472Asn Multiple submitters ⚠
- p.Cys110Ser Multiple submitters ⚠
- p.Cys125Tyr Multiple submitters ⚠
- p.Gln17Ter Multiple submitters
- p.Gln359His Multiple submitters ⚠
- p.Gln690Ter Multiple submitters congenital disorder of glycosylation with defective fucosylation 2
- p.Glu1076Lys Multiple submitters ⚠
- p.Glu117Lys Multiple submitters ⚠
- p.Glu656Lys Multiple submitters ⚠
- p.Glu909Lys Multiple submitters ⚠
- p.Gly1028Val Multiple submitters ⚠
- p.Gly584Arg Multiple submitters ⚠
- p.Gly744Ser Multiple submitters ⚠
- p.Gly837Ser Multiple submitters ⚠
- p.His1015Asp Multiple submitters ⚠
- p.His430Gln Multiple submitters ⚠
- p.Ile350Thr Multiple submitters ⚠
- p.Leu138Pro Multiple submitters ⚠
- p.Leu568Phe Multiple submitters ⚠
- p.Leu61Phe Multiple submitters
- p.Leu731Arg Multiple submitters ⚠
- p.Lys557Glu Multiple submitters congenital disorder of glycosylation with defective fucosylation 2 ⚠
- p.Met95Thr Multiple submitters ⚠
- p.Met996Thr Multiple submitters congenital disorder of glycosylation with defective fucosylation 2 ⚠
- p.Phe462Ser Multiple submitters ⚠
- p.Phe717Leu Multiple submitters ⚠
- p.Pro1084Leu Multiple submitters ⚠
- p.Pro143Leu Multiple submitters ⚠
- p.Pro259Thr Multiple submitters ⚠
- p.Pro392Arg Multiple submitters congenital disorder of glycosylation with defective fucosylation 2 ⚠
- p.Pro535Leu Multiple submitters ⚠
- p.Pro583Leu Multiple submitters ⚠
- p.Pro632Ala Multiple submitters ⚠
- p.Pro756Arg Multiple submitters ⚠
- p.Ser142Cys Multiple submitters ⚠
- p.Ser223Pro Multiple submitters congenital disorder of glycosylation with defective fucosylation 2 ⚠
- p.Ser327Arg Multiple submitters ⚠
- p.Thr427Met Multiple submitters ⚠
- p.Thr478Met Multiple submitters ⚠
- p.Thr542Met Multiple submitters ⚠
- p.Thr724Met Multiple submitters ⚠
- p.Thr864Met Multiple submitters ⚠
- p.Tyr320Cys Multiple submitters ⚠
- p.Tyr320Phe Multiple submitters ⚠
- p.Val1061Ala Multiple submitters ⚠
- p.Val188Ile Multiple submitters ⚠
- p.Val31Met Multiple submitters ⚠
- p.Val383Ile Multiple submitters ⚠
- p.Val440Ala Multiple submitters ⚠
- p.Val440Leu Multiple submitters ⚠
- p.Val47Met Multiple submitters
- p.Val613Ile Multiple submitters ⚠
- p.Val650Met Multiple submitters ⚠
- p.Val735Leu Multiple submitters ⚠
- c.1069-10G>A Single submitter
- c.1069-3C>T Single submitter
- c.1988+1G>A Single submitter
- c.2155+3G>T Single submitter
- c.2156-3T>C Single submitter
- c.235-1G>A Single submitter
- c.2521+1G>T Single submitter
- c.2521+3G>A Single submitter
- c.2641+17_2641+18insTA Single submitter
- c.2829+4A>G Single submitter
- c.286-10_286-9insTTTGAT Single submitter
- c.2930-10C>G Single submitter
- c.3154-24_3159del Single submitter
- c.3154-3C>T Single submitter
- c.412-3C>A Single submitter
- c.663+5G>A Single submitter
- c.664-1G>A Single submitter
- c.664-3C>G Single submitter
- c.955+20_955+21delinsAA Single submitter
- p.Ala1013Val Single submitter ⚠
- p.Ala107Asp Single submitter ⚠
- p.Ala118Ser Single submitter ⚠
- p.Ala122Asp Single submitter ⚠
- p.Ala159Glu Single submitter ⚠
- p.Ala171Thr Single submitter ⚠
- p.Ala175Thr Single submitter ⚠
- p.Ala183Ser Single submitter ⚠
- p.Ala183Thr Single submitter
- p.Ala305Thr Single submitter ⚠
- p.Ala333Thr Single submitter ⚠
- p.Ala345Thr Single submitter ⚠
- p.Ala436Pro Single submitter ⚠
- p.Ala470Gly Single submitter ⚠
- p.Ala470Val Single submitter ⚠
- p.Ala540Val Single submitter ⚠
- p.Ala541Thr Single submitter ⚠
- p.Ala576Asp Single submitter ⚠
- p.Ala576Ser Single submitter ⚠
- p.Ala603Val Single submitter ⚠
- p.Ala606Thr Single submitter ⚠
- p.Ala654Val Single submitter ⚠
- p.Ala685fs Single submitter
- p.Ala685Gly Single submitter ⚠
- p.Ala713Gly Single submitter ⚠
- p.Ala794Ser Single submitter ⚠
- p.Ala853Asp Single submitter ⚠
- p.Ala858Ser Single submitter ⚠
- p.Arg1007Cys Single submitter ⚠
- p.Arg1007Leu Single submitter ⚠
- p.Arg137Trp Single submitter ⚠
- p.Arg172fs Single submitter
- p.Arg211Trp Single submitter ⚠
- p.Arg235Cys Single submitter ⚠
- p.Arg258Gln Single submitter ⚠
- p.Arg258Trp Single submitter ⚠
- p.Arg35Gln Single submitter ⚠
- p.Arg418Cys Single submitter ⚠
- p.Arg442Cys Single submitter ⚠
- p.Arg442His Single submitter ⚠
- p.Arg442Leu Single submitter ⚠
- p.Arg469Gln Single submitter ⚠
- p.Arg489His Single submitter ⚠
- p.Arg520fs Single submitter congenital disorder of glycosylation with defective fucosylation 2
- p.Arg520Gln Single submitter ⚠
- p.Arg520Ter Single submitter
- p.Arg523Gln Single submitter ⚠
- p.Arg523Leu Single submitter ⚠
- p.Arg539Gly Single submitter ⚠
- p.Arg539Trp Single submitter ⚠
- p.Arg552His Single submitter ⚠
- p.Arg559Gly Single submitter ⚠
- p.Arg565Trp Single submitter ⚠
- p.Arg571Leu Single submitter ⚠
- p.Arg579Leu Single submitter ⚠
- p.Arg605Gln Single submitter ⚠
- p.Arg621Cys Single submitter ⚠
- p.Arg625Trp Single submitter ⚠
- p.Arg672Cys Single submitter
- p.Arg672Gly Single submitter ⚠
- p.Arg672His Single submitter ⚠
- p.Arg683Leu Single submitter ⚠
- p.Arg714Ser Single submitter ⚠
- p.Arg753Cys Single submitter ⚠
- p.Arg753His Single submitter ⚠
- p.Arg767Trp Single submitter ⚠
- p.Arg778Gln Single submitter ⚠
- p.Arg778Pro Single submitter ⚠
- p.Arg820Cys Single submitter ⚠
- p.Arg856Gln Single submitter ⚠
- p.Arg856Ter Single submitter
- p.Arg860Gln Single submitter ⚠
- p.Arg860Trp Single submitter ⚠
- p.Arg975Cys Single submitter ⚠
- p.Arg975His Single submitter ⚠
- p.Arg97Gln Single submitter ⚠
- p.Arg97Ter Single submitter
- p.Asn1055Ser Single submitter neurodevelopmental disorder ⚠
- p.Asn185Thr Single submitter ⚠
- p.Asn924Ser Single submitter ⚠
- p.Asp132His Single submitter congenital disorder of glycosylation with defective fucosylation 2 ⚠
- p.Asp254Glu Single submitter ⚠
- p.Asp293Asn Single submitter congenital disorder of glycosylation with defective fucosylation 2 ⚠
- p.Asp293Val Single submitter ⚠
- p.Asp313Asn Single submitter ⚠
- p.Asp419Ala Single submitter ⚠
- p.Asp472Ala Single submitter ⚠
- p.Asp514Tyr Single submitter ⚠
- p.Asp658Glu Single submitter ⚠
- p.Asp83Asn Single submitter ⚠
- p.Asp8delinsSerTer Single submitter
- p.Asp944Glu Single submitter ⚠
- p.Asp98Glu Single submitter ⚠
- p.Asp98Gly Single submitter ⚠
- p.Cys1081Tyr Single submitter ⚠
- p.Cys609Phe Single submitter ⚠
- p.Cys643Tyr Single submitter ⚠
- p.Gln210Glu Single submitter ⚠
- p.Gln23Arg Single submitter ⚠
- p.Gln377Arg Single submitter ⚠
- p.Gln3Ter Single submitter
- p.Gln449His Single submitter ⚠
- p.Gln532His Single submitter ⚠
- p.Gln697His Single submitter ⚠
- p.Gln705Ter Single submitter
- p.Gln768His Single submitter ⚠
- p.Gln788Arg Single submitter ⚠
- p.Gln813His Single submitter ⚠
- p.Gln876Arg Single submitter ⚠
- p.Gln903Ter Single submitter congenital disorder of glycosylation with defective fucosylation 2
- p.Glu1041Gln Single submitter ⚠
- p.Glu1044Lys Single submitter ⚠
- p.Glu1051Lys Single submitter ⚠
- p.Glu208Gln Single submitter ⚠
- p.Glu2Lys Single submitter ⚠
- p.Glu477Lys Single submitter
- p.Glu51Gly Single submitter ⚠
- p.Glu531Asp Single submitter ⚠
- p.Glu563Ter Single submitter
- p.Glu656Gln Single submitter ⚠
- p.Glu757Asp Single submitter ⚠
- p.Glu811Asp Single submitter ⚠
- p.Gly1052Asp Single submitter ⚠
- p.Gly1074Glu Single submitter ⚠
- p.Gly139Val Single submitter ⚠
- p.Gly178Glu Single submitter ⚠
- p.Gly284Trp Single submitter ⚠
- p.Gly347Glu Single submitter ⚠
- p.Gly364Arg Single submitter ⚠
- p.Gly55Arg Single submitter ⚠
- p.Gly57Arg Single submitter ⚠
- p.Gly584Trp Single submitter ⚠
- p.Gly601Ser Single submitter ⚠
- p.Gly622Arg Single submitter ⚠
- p.Gly627Glu Single submitter ⚠
- p.Gly676Ala Single submitter ⚠
- p.Gly676Arg Single submitter ⚠
- p.Gly719Glu Single submitter ⚠
- p.Gly733Arg Single submitter ⚠
- p.Gly76Val Single submitter ⚠
- p.Gly823Arg Single submitter ⚠
- p.Gly859Arg Single submitter ⚠
- p.Gly882Asp Single submitter ⚠
- p.Gly933Val Single submitter ⚠
- p.Gly96Ser Single submitter congenital disorder of glycosylation with defective fucosylation 2 ⚠
- p.His1015Tyr Single submitter ⚠
- p.His1059Leu Single submitter ⚠
- p.His186Arg Single submitter ⚠
- p.His186Tyr Single submitter ⚠
- p.His352Arg Single submitter ⚠
- p.His560fs Single submitter
- p.His70Pro Single submitter ⚠
- p.His790Asp Single submitter ⚠
- p.His836Asp Single submitter ⚠
- p.His836Pro Single submitter ⚠
- p.His961Pro Single submitter ⚠
- p.Ile12Leu Single submitter ⚠
- p.Ile200Thr Single submitter ⚠
- p.Ile200Val Single submitter ⚠
- p.Ile395Met Single submitter ⚠
- p.Ile574Leu Single submitter ⚠
- p.Ile92Val Single submitter ⚠
- p.Leu1003fs Single submitter
- p.Leu1033fs Single submitter
- p.Leu127Met Single submitter congenital disorder of glycosylation with defective fucosylation 2 ⚠
- p.Leu127Pro Single submitter ⚠
- p.Leu154Arg Single submitter ⚠
- p.Leu198Ser Single submitter ⚠
- p.Leu264Pro Single submitter ⚠
- p.Leu372Val Single submitter ⚠
- p.Leu429Pro Single submitter ⚠