NFASC — 341 ClinVar variants
All ClinVar germline NFASC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
8 Pathogenic · 5 Likely pathogenic · 7 Conflicting · 19 Benign · 3 Benign/Likely benign · 85 Likely benign · 214 Uncertain significance
Full NFASC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll NFASC variants
Pathogenic 8
- p.Leu860fs Single submitter Inborn genetic diseases
- p.Arg359Pro No assertion criteria neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Arg846Ter No assertion criteria neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Phe700Leu No assertion criteria neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Pro939fs No assertion criteria neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Ser820Pro No assertion criteria neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Val1077Ala No assertion criteria neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Val1122Glu No assertion criteria neurodevelopmental disorder with central and peripheral motor dysfunction
Likely pathogenic 5
- p.Arg800Ter Single submitter neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Trp887Ter Single submitter
- p.Tyr872Ter Single submitter
- p.Gln893Ter No assertion criteria neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Glu1186Ter No assertion criteria neurodevelopmental disorder with central and peripheral motor dysfunction
Conflicting classifications of pathogenicity 7
- p.Arg515Cys Single submitter Inborn genetic diseases
- p.Arg773Gln Single submitter neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Asp638Asn Single submitter Inborn genetic diseases
- p.Pro563Leu Single submitter neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Pro8Ser Single submitter Inborn genetic diseases
- p.Thr913Ile Single submitter neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Val663Ile Single submitter Inborn genetic diseases
Benign 19
- c.1280-22A>T Multiple submitters neurodevelopmental disorder with central and peripheral motor dysfunction
- c.215+14A>G Multiple submitters neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Ala503= Multiple submitters
- p.Arg534Lys Multiple submitters
- p.Asp341= Multiple submitters
- p.Asp574= Multiple submitters
- p.Gly867= Multiple submitters
- p.Ile566Val Multiple submitters
- p.Pro1008= Multiple submitters neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Pro716= Multiple submitters
- p.Thr538= Multiple submitters
- p.Val518= Multiple submitters neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Thr1230= Single submitter
- p.Val593= Single submitter
- c.1831+11A>G No assertion criteria NFASC-related disorder
- p.Ala1103= No assertion criteria NFASC-related disorder
- p.Ile963Val No assertion criteria NFASC-related disorder
- p.Ser820= No assertion criteria NFASC-related disorder
- p.Tyr445= No assertion criteria NFASC-related disorder
Benign/Likely benign 3
- p.Asn420= Multiple submitters
- p.Pro165= Multiple submitters
- p.Thr159Met Multiple submitters
Likely benign 85
- p.Ala987Thr Multiple submitters Inborn genetic diseases
- p.Arg1135= Multiple submitters
- p.Arg242= Multiple submitters
- p.Asn194= Multiple submitters
- p.Gly941= Multiple submitters
- p.Ile84= Multiple submitters
- p.Lys1050Arg Multiple submitters Inborn genetic diseases
- c.1004-9G>A Single submitter
- c.1136-19G>A Single submitter
- c.1391+12G>A Single submitter
- c.1979-21_1979-20del Single submitter
- c.215+6T>C Single submitter
- c.2470+2000A>C Single submitter
- c.2471-18C>G Single submitter
- c.2768-15C>T Single submitter
- c.2782+9C>T Single submitter
- c.3019+13G>A Single submitter
- c.3290-6C>T Single submitter
- c.412+10G>A Single submitter
- c.91+15A>G Single submitter
- c.92-6T>C Single submitter
- p.Ala253= Single submitter
- p.Ala253Val Single submitter neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Ala594Thr Single submitter Inborn genetic diseases
- p.Ala640= Single submitter
- p.Ala942Thr Single submitter Inborn genetic diseases
- p.Ala972Thr Single submitter Inborn genetic diseases
- p.Ala987= Single submitter
- p.Ala987Val Single submitter Inborn genetic diseases
- p.Arg1135His Single submitter Inborn genetic diseases
- p.Arg436Trp Single submitter Inborn genetic diseases
- p.Arg830Cys Single submitter Inborn genetic diseases
- p.Asn1224= Single submitter
- p.Asn201= Single submitter
- p.Asn35Ser Single submitter Inborn genetic diseases
- p.Asp1179= Single submitter
- p.Glu1156= Single submitter
- p.Glu922Gly Single submitter
- p.Gly1000Arg Single submitter Inborn genetic diseases
- p.Gly1159= Single submitter
- p.Gly867Arg Single submitter Inborn genetic diseases
- p.His1004Gln Single submitter Inborn genetic diseases
- p.Ile1127= Single submitter
- p.Ile971= Single submitter
- p.Leu160= Single submitter
- p.Leu439= Single submitter
- p.Met29Val Single submitter Inborn genetic diseases
- p.Pro1069= Single submitter
- p.Pro6= Single submitter
- p.Pro650= Single submitter
- p.Pro694= Single submitter
- p.Pro920Leu Single submitter Inborn genetic diseases
- p.Pro929Ser Single submitter Inborn genetic diseases
- p.Pro939= Single submitter
- p.Ser330Leu Single submitter Inborn genetic diseases
- p.Ser862= Single submitter
- p.Ser901= Single submitter
- p.Thr1099Asn Single submitter Inborn genetic diseases
- p.Thr1213= Single submitter
- p.Thr126= Single submitter
- p.Thr38= Single submitter
- p.Thr554= Single submitter Inborn genetic diseases
- p.Thr608= Single submitter
- p.Thr886Met Single submitter Inborn genetic diseases
- p.Thr936= Single submitter
- p.Thr936Ile Single submitter Inborn genetic diseases
- p.Thr955= Single submitter Inborn genetic diseases
- p.Thr975_Thr976del Single submitter
- p.Tyr681= Single submitter
- p.Val1128Ile Single submitter Inborn genetic diseases
- p.Val609Met Single submitter Inborn genetic diseases
- p.Val795Met Single submitter Inborn genetic diseases
- p.Val887Met Single submitter Inborn genetic diseases
- c.2470+2131G>A No assertion criteria NFASC-related disorder
- c.3020-9G>A No assertion criteria NFASC-related disorder
- c.3290-9C>T No assertion criteria NFASC-related disorder
- c.536-4A>G No assertion criteria NFASC-related disorder
- c.*1C>T No assertion criteria NFASC-related disorder
- p.Ala986= No assertion criteria NFASC-related disorder
- p.Arg526Gln No assertion criteria NFASC-related disorder
- p.Lys934Arg No assertion criteria NFASC-related disorder
- p.Pro727= No assertion criteria NFASC-related disorder
- p.Ser271= No assertion criteria NFASC-related disorder
- p.Thr1072= No assertion criteria NFASC-related disorder
- p.Val273= No assertion criteria NFASC-related disorder
Uncertain significance 214
- c.2593+5G>A Multiple submitters neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Ala253Thr Multiple submitters Inborn genetic diseases
- p.Arg133His Multiple submitters Inborn genetic diseases
- p.Arg436Gln Multiple submitters neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Asn655Asp Multiple submitters neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Asp1038Ala Multiple submitters Inborn genetic diseases
- p.Asp601Val Multiple submitters Inborn genetic diseases
- p.Gly23Arg Multiple submitters Inborn genetic diseases
- p.Leu287Phe Multiple submitters Inborn genetic diseases
- p.Thr973Ala Multiple submitters Inborn genetic diseases
- p.Val532Leu Multiple submitters Inborn genetic diseases
- c.109+1G>A Single submitter
- c.1978+1G>A Single submitter Inborn genetic diseases
- c.2177-2A>G Single submitter
- c.3290-8C>T Single submitter
- c.-90-4920C>T Single submitter neurodevelopmental disorder with central and peripheral motor dysfunction
- c.-91+5855A>G Single submitter neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Ala1059Val Single submitter neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Ala1235Thr Single submitter Inborn genetic diseases
- p.Ala156Gly Single submitter Inborn genetic diseases
- p.Ala156Thr Single submitter Inborn genetic diseases
- p.Ala421Thr Single submitter Inborn genetic diseases
- p.Ala902Thr Single submitter Inborn genetic diseases
- p.Ala939Thr Single submitter Inborn genetic diseases
- p.Ala957Gly Single submitter Inborn genetic diseases
- p.Ala967Ser Single submitter Inborn genetic diseases
- p.Ala972Val Single submitter Inborn genetic diseases
- p.Ala978Val Single submitter Inborn genetic diseases
- p.Arg104His Single submitter Inborn genetic diseases
- p.Arg1076Gln Single submitter
- p.Arg1076Gly Single submitter Inborn genetic diseases
- p.Arg121Leu Single submitter Inborn genetic diseases
- p.Arg188His Single submitter Inborn genetic diseases
- p.Arg237Leu Single submitter Inborn genetic diseases
- p.Arg239Gly Single submitter
- p.Arg260Cys Single submitter Inborn genetic diseases
- p.Arg260His Single submitter Inborn genetic diseases
- p.Arg396Gln Single submitter Inborn genetic diseases
- p.Arg396Trp Single submitter Inborn genetic diseases
- p.Arg431Gln Single submitter Inborn genetic diseases
- p.Arg431Trp Single submitter neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Arg447Gln Single submitter Inborn genetic diseases
- p.Arg447Trp Single submitter Inborn genetic diseases
- p.Arg449Gln Single submitter
- p.Arg449Trp Single submitter Inborn genetic diseases
- p.Arg515His Single submitter Inborn genetic diseases
- p.Arg544Trp Single submitter Inborn genetic diseases
- p.Arg56Cys Single submitter Inborn genetic diseases
- p.Arg619Gly Single submitter
- p.Arg619His Single submitter Inborn genetic diseases
- p.Arg627Trp Single submitter
- p.Arg691Trp Single submitter Inborn genetic diseases
- p.Arg701His Single submitter Inborn genetic diseases
- p.Arg768Lys Single submitter Inborn genetic diseases
- p.Arg77Gln Single submitter Inborn genetic diseases
- p.Arg800Gln Single submitter Inborn genetic diseases
- p.Arg800Pro Single submitter neuromuscular disease
- p.Arg829Gly Single submitter Inborn genetic diseases
- p.Arg832Gln Single submitter Inborn genetic diseases
- p.Arg834Trp Single submitter
- p.Arg859His Single submitter
- p.Arg895Cys Single submitter Inborn genetic diseases
- p.Arg895His Single submitter Inborn genetic diseases
- p.Arg89Gln Single submitter Inborn genetic diseases
- p.Arg908His Single submitter
- p.Arg93Lys Single submitter Inborn genetic diseases
- p.Asn1026Asp Single submitter Inborn genetic diseases
- p.Asn1082Lys Single submitter Inborn genetic diseases
- p.Asn163Lys Single submitter Inborn genetic diseases
- p.Asn361Ser Single submitter Inborn genetic diseases
- p.Asn412Ser Single submitter Inborn genetic diseases
- p.Asn446Asp Single submitter Inborn genetic diseases
- p.Asn654Asp Single submitter Inborn genetic diseases
- p.Asn778Ser Single submitter Inborn genetic diseases
- p.Asp1045Asn Single submitter neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Asp1179Asn Single submitter Inborn genetic diseases
- p.Asp1179Gly Single submitter Inborn genetic diseases
- p.Asp391Gly Single submitter Inborn genetic diseases
- p.Asp54His Single submitter Inborn genetic diseases
- p.Asp57Gly Single submitter Inborn genetic diseases
- p.Asp599Asn Single submitter Inborn genetic diseases
- p.Asp601His Single submitter Inborn genetic diseases
- p.Asp947Asn Single submitter Inborn genetic diseases
- p.Cys1129Tyr Single submitter Inborn genetic diseases
- p.Gln1058Arg Single submitter
- p.Gln185Arg Single submitter Inborn genetic diseases
- p.Gln671Arg Single submitter neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Gln790Lys Single submitter Inborn genetic diseases
- p.Gln835Ter Single submitter
- p.Gln888Pro Single submitter Inborn genetic diseases
- p.Glu1005Lys Single submitter Inborn genetic diseases
- p.Glu111Gly Single submitter Inborn genetic diseases
- p.Glu1166Lys Single submitter Inborn genetic diseases
- p.Glu1166Ter Single submitter
- p.Glu1225Lys Single submitter neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Glu529Lys Single submitter Inborn genetic diseases
- p.Glu597Lys Single submitter Inborn genetic diseases
- p.Glu641Lys Single submitter
- p.Glu745Ala Single submitter neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Gly1034Arg Single submitter Inborn genetic diseases
- p.Gly1036Arg Single submitter Inborn genetic diseases
- p.Gly1070Arg Single submitter Inborn genetic diseases
- p.Gly107Arg Single submitter Inborn genetic diseases
- p.Gly1084Asp Single submitter Inborn genetic diseases
- p.Gly1173Ser Single submitter Inborn genetic diseases
- p.Gly22Cys Single submitter neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Gly284Ser Single submitter Inborn genetic diseases
- p.Gly470Glu Single submitter Inborn genetic diseases
- p.Gly683Ser Single submitter neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Gly808Arg Single submitter
- p.Gly818Ser Single submitter neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Gly938Asp Single submitter Inborn genetic diseases
- p.His1048Asp Single submitter Inborn genetic diseases
- p.His11Arg Single submitter Inborn genetic diseases
- p.His479Leu Single submitter Inborn genetic diseases
- p.His712Leu Single submitter Inborn genetic diseases
- p.Ile1112Thr Single submitter Inborn genetic diseases
- p.Ile25Phe Single submitter Inborn genetic diseases
- p.Ile488Met Single submitter Inborn genetic diseases
- p.Ile52Met Single submitter Inborn genetic diseases
- p.Ile52Val Single submitter Inborn genetic diseases
- p.Ile649Leu Single submitter Inborn genetic diseases
- p.Ile817Val Single submitter Inborn genetic diseases
- p.Leu287Pro Single submitter
- p.Leu301Gln Single submitter
- p.Leu558Gln Single submitter neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Leu636Val Single submitter Inborn genetic diseases
- p.Leu838Gln Single submitter Inborn genetic diseases
- p.Lys1215Arg Single submitter Inborn genetic diseases
- p.Lys232Asn Single submitter Inborn genetic diseases
- p.Lys293Thr Single submitter
- p.Lys519Glu Single submitter Inborn genetic diseases
- p.Lys66Glu Single submitter
- p.Lys872Arg Single submitter Inborn genetic diseases
- p.Met1115Thr Single submitter Inborn genetic diseases
- p.Met176Val Single submitter neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Met207Ile Single submitter Inborn genetic diseases
- p.Met262Ile Single submitter Inborn genetic diseases
- p.Met432Leu Single submitter Inborn genetic diseases
- p.Met490Lys Single submitter Inborn genetic diseases
- p.Met744Val Single submitter Inborn genetic diseases
- p.Met751Ile Single submitter Inborn genetic diseases
- p.Met751Val Single submitter Inborn genetic diseases
- p.Pro1035Leu Single submitter Inborn genetic diseases
- p.Pro109Thr Single submitter Inborn genetic diseases
- p.Pro140Ser Single submitter Inborn genetic diseases
- p.Pro382Arg Single submitter Inborn genetic diseases
- p.Pro40Leu Single submitter Inborn genetic diseases
- p.Pro521Leu Single submitter Inborn genetic diseases
- p.Pro616Gln Single submitter Inborn genetic diseases
- p.Pro682Ser Single submitter Inborn genetic diseases
- p.Pro694Thr Single submitter neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Pro6Leu Single submitter Inborn genetic diseases
- p.Pro716Leu Single submitter Inborn genetic diseases
- p.Pro7Leu Single submitter Inborn genetic diseases
- p.Pro811Ala Single submitter
- p.Pro88Leu Single submitter Inborn genetic diseases
- p.Pro917Arg Single submitter Inborn genetic diseases
- p.Pro961Leu Single submitter Inborn genetic diseases
- p.Pro968Ser Single submitter Inborn genetic diseases
- p.Ser1087Asn Single submitter neuromuscular disease
- p.Ser1134Arg Single submitter Inborn genetic diseases
- p.Ser200Cys Single submitter Inborn genetic diseases
- p.Ser245Thr Single submitter Inborn genetic diseases
- p.Ser434Leu Single submitter Inborn genetic diseases
- p.Ser550Phe Single submitter Inborn genetic diseases
- p.Ser643Asn Single submitter Inborn genetic diseases
- p.Ser72Gly Single submitter
- p.Ser755Leu Single submitter
- p.Ser945Asn Single submitter Inborn genetic diseases
- p.Ter1241ProextTer? Single submitter
- p.Thr1074Met Single submitter Inborn genetic diseases
- p.Thr1181Ile Single submitter Inborn genetic diseases
- p.Thr1213Met Single submitter Inborn genetic diseases
- p.Thr1230Met Single submitter
- p.Thr126Ala Single submitter Inborn genetic diseases
- p.Thr126Met Single submitter
- p.Thr275Ala Single submitter Inborn genetic diseases
- p.Thr328Met Single submitter Inborn genetic diseases
- p.Thr367Ala Single submitter
- p.Thr38Met Single submitter Inborn genetic diseases
- p.Thr448Met Single submitter Inborn genetic diseases
- p.Thr522Ala Single submitter
- p.Thr554Ile Single submitter Inborn genetic diseases
- p.Thr647Asn Single submitter Inborn genetic diseases
- p.Thr747Met Single submitter Inborn genetic diseases
- p.Thr754Pro Single submitter Inborn genetic diseases
- p.Thr840Ala Single submitter Inborn genetic diseases
- p.Thr973Ile Single submitter neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Thr988Ala Single submitter
- p.Thr991_Thr998del Single submitter
- p.Thr996Ser Single submitter Inborn genetic diseases
- p.Trp1014Cys Single submitter Inborn genetic diseases
- p.Trp1110Leu Single submitter Inborn genetic diseases
- p.Tyr1163Cys Single submitter Inborn genetic diseases
- p.Tyr695Cys Single submitter Inborn genetic diseases
- p.Val1016Ile Single submitter
- p.Val1018Met Single submitter
- p.Val1089Ile Single submitter Inborn genetic diseases
- p.Val428Leu Single submitter
- p.Val428Met Single submitter Inborn genetic diseases
- p.Val480Ile Single submitter Inborn genetic diseases
- p.Val53Met Single submitter Inborn genetic diseases
- p.Val545Leu Single submitter Inborn genetic diseases
- p.Val685Ile Single submitter Inborn genetic diseases
- p.Val708Ile Single submitter Inborn genetic diseases
- p.Val787Met Single submitter
- p.Val816Ile Single submitter Inborn genetic diseases
- p.Val863Met Single submitter Inborn genetic diseases
- p.Val865Ile Single submitter
- p.Val893Met Single submitter Inborn genetic diseases
- p.Val906Met Single submitter Inborn genetic diseases
- p.Val912Ile Single submitter neurodevelopmental disorder with central and peripheral motor dysfunction
- p.Val960Leu Single submitter Inborn genetic diseases