ClinVar Miner

List of variants reported as pathogenic for FG syndrome

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu) rs28935498 0.00034
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser) rs137852820 0.00026
NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu) rs137853319 0.00023
NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter) rs1269514277 0.00005
NM_004463.3(FGD1):c.1223G>A (p.Arg408Gln) rs137853265 0.00001
NC_000023.10:g.(?_41387096)_(41396627_?)del
NC_000023.10:g.(?_70337406)_(70363304_?)del
NG_008054.1:g.(35701_?)_(?_50820)del
NM_001367721.1(CASK):c.1424G>T (p.Ser475Ile) rs2147201250
NM_001367721.1(CASK):c.2129A>G (p.Asp710Gly) rs137852818
NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys) rs398122844
NM_001367721.1(CASK):c.2521-2A>G rs398122845
NM_001367721.1(CASK):c.2521-2A>T rs398122845
NM_001367721.1(CASK):c.305A>G (p.Glu102Gly) rs1569429756
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_001367721.1(CASK):c.802T>C (p.Tyr268His) rs137852817
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter) rs587783370
NM_001367721.1(CASK):c.83G>T (p.Arg28Leu) rs137852816
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter) rs886128077
NM_001367721.1(CASK):c.913_914dup (p.Gly306fs) rs1602386709
NM_001367721.1(CASK):c.916-1G>A rs2066382876
NM_004463.3(FGD1):c.1143_1145del (p.Leu382del) rs1601954686
NM_004463.3(FGD1):c.1328G>T (p.Arg443Leu) rs137853266
NM_004463.3(FGD1):c.1392dup (p.Lys465fs)
NM_004463.3(FGD1):c.1396A>G (p.Met466Val) rs137853267
NM_004463.3(FGD1):c.1422del (p.Phe474fs) rs2147432826
NM_004463.3(FGD1):c.1452G>A (p.Trp484Ter) rs1601953661
NM_004463.3(FGD1):c.1565G>A (p.Arg522His) rs137853264
NM_004463.3(FGD1):c.1590T>A (p.Tyr530Ter) rs1601953552
NM_004463.3(FGD1):c.1695+1G>A rs1922506770
NM_004463.3(FGD1):c.1829G>A (p.Arg610Gln) rs28935497
NM_004463.3(FGD1):c.1843-1G>A rs1601950553
NM_004463.3(FGD1):c.1966C>T (p.Arg656Ter) rs387906718
NM_004463.3(FGD1):c.2192del (p.Lys731fs)
NM_004463.3(FGD1):c.367del (p.Ser122_Leu123insTer) rs2147436223
NM_004463.3(FGD1):c.527del (p.Pro176fs) rs756586058
NM_004463.3(FGD1):c.527dup (p.Leu177fs) rs756586058
NM_004463.3(FGD1):c.545del (p.Pro182fs) rs1922869724
NM_004463.3(FGD1):c.679del (p.Ser227fs) rs1922859149
NM_004463.3(FGD1):c.944dup (p.Ala316fs) rs1569541255
NM_005120.3(MED12):c.1924_1974+17dup
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.3443G>A (p.Arg1148His) rs387907360
NM_005120.3(MED12):c.3488dup (p.Asp1164fs)
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys) rs863223706
NM_005120.3(MED12):c.3884G>A (p.Arg1295His) rs1556337063
NM_005120.3(MED12):c.4070G>A (p.Arg1357His) rs2147811858
NM_005120.3(MED12):c.887G>A (p.Arg296Gln) rs1556334519

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