ClinVar Miner

List of variants studied for FG syndrome by Baylor Genetics

Included ClinVar conditions (14):

Aarskog syndrome
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia-pigmentary defects syndrome; Frontometaphyseal dysplasia 1
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1
FG syndrome
FG syndrome 1
FG syndrome 2
FG syndrome 4
Intellectual developmental disorder, X-linked, syndromic 16
Syndromic X-linked intellectual disability Najm type; FG syndrome 4
Syndromic X-linked intellectual disability Najm type; FG syndrome 4; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
X-linked intellectual disability with marfanoid habitus; Blepharophimosis - intellectual disability syndrome, MKB type; FG syndrome
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Blepharophimosis - intellectual disability syndrome, MKB type
X-linked intellectual disability with marfanoid habitus; FG syndrome; MED12-related intellectual disability syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His)	rs369668866	0.00016
NM_005120.3(MED12):c.4864-6C>T	rs1018026145	0.00005
NM_001367721.1(CASK):c.1714C>T (p.Arg572Cys)	rs1421702106	0.00002
NM_001110556.2(FLNA):c.1399C>T (p.Arg467Cys)	rs367948333	0.00001
NM_001110556.2(FLNA):c.4381G>A (p.Gly1461Ser)	rs868967647
NM_001367721.1(CASK):c.913_914dup (p.Gly306fs)	rs1602386709
NM_004463.3(FGD1):c.2017A>G (p.Thr673Ala)	rs1922347865
NM_004463.3(FGD1):c.2380G>A (p.Gly794Arg)
NM_004463.3(FGD1):c.527del (p.Pro176fs)	rs756586058
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)	rs80338758
NM_005120.3(MED12):c.6211del (p.Gln2071fs)

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