"Ambry Genetics"[submitter] AND "FGD1"[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2598649	NM_004463.3(FGD1):c.2857G>A (p.Glu953Lys)	FGD1, TSR2 (E953K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2622685	NM_004463.3(FGD1):c.2851C>T (p.Pro951Ser)	FGD1, TSR2 (P951S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273429	NM_004463.3(FGD1):c.2851C>A (p.Pro951Thr)	FGD1, TSR2 (P951T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1796475	NM_004463.3(FGD1):c.2823G>A (p.Pro941=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 589463	NM_004463.3(FGD1):c.2821C>T (p.Pro941Ser)	TSR2, FGD1 (P941S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 287068	NM_004463.3(FGD1):c.2816A>C (p.Glu939Ala)	FGD1, TSR2 (E939A)	Single nucleotide variant (missense variant +1 more)	FGD1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 588692	NM_004463.3(FGD1):c.2805G>A (p.Arg935=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 589118	NM_004463.3(FGD1):c.2757G>A (p.Ala919=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2535158	NM_004463.3(FGD1):c.2753G>A (p.Arg918Gln)	FGD1, TSR2 (R918Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1795263	NM_004463.3(FGD1):c.2729G>A (p.Arg910Gln)	FGD1, TSR2 (R910Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 1794059	NM_004463.3(FGD1):c.2631G>A (p.Pro877=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 585860	NM_004463.3(FGD1):c.2619C>T (p.Phe873=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 786705	NM_004463.3(FGD1):c.2581-6C>T	FGD1, TSR2	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 167062	NM_004463.3(FGD1):c.2568C>T (p.Tyr856=)	TSR2, FGD1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1793043	NM_004463.3(FGD1):c.2559G>A (p.Leu853=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1791688	NM_004463.3(FGD1):c.2466C>T (p.Ser822=)	FGD1, TSR2	Single nucleotide variant (synonymous variant +1 more)	FGD1-related disorder +1 more	GLikely benign
Select item 587927	NM_004463.3(FGD1):c.2436G>A (p.Glu812=)	FGD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 95091	NM_004463.3(FGD1):c.2289G>A (p.Lys763=)	FGD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 194511	NM_004463.3(FGD1):c.2268C>T (p.Cys756=)	FGD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 95089	NM_004463.3(FGD1):c.2136A>G (p.Pro712=)	FGD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2481422	NM_004463.3(FGD1):c.2132C>T (p.Thr711Ile)	FGD1 (T711I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 95086	NM_004463.3(FGD1):c.2091T>C (p.Thr697=)	FGD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 598658	NM_004463.3(FGD1):c.2047-5C>A	FGD1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 589571	NM_004463.3(FGD1):c.2043C>T (p.Val681=)	FGD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1784649	NM_004463.3(FGD1):c.2020GAG[2] (p.Glu676del)	FGD1 (E676del)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GLikely pathogenic
Select item 1784456	NM_004463.3(FGD1):c.2015+1G>A	FGD1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 520834	NM_004463.3(FGD1):c.1978G>A (p.Val660Met)	FGD1 (V660M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1782392	NM_004463.3(FGD1):c.1906C>T (p.Arg636Trp)	FGD1 (R636W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 588329	NM_004463.3(FGD1):c.1636+1G>A	FGD1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 198808	NM_004463.3(FGD1):c.1617G>A (p.Pro539=)	FGD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 986089	NM_004463.3(FGD1):c.1572G>T (p.Glu524Asp)	FGD1 (E524D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 95084	NM_004463.3(FGD1):c.1564C>A (p.Arg522Ser)	FGD1 (R522S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 95083	NM_004463.3(FGD1):c.1563C>T (p.Pro521=)	FGD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 95081	NM_004463.3(FGD1):c.1556G>A (p.Arg519His)	FGD1 (R519H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic 16 +3 more	GConflicting classifications of pathogenicity
Select item 520730	NM_004463.3(FGD1):c.1555C>T (p.Arg519Cys)	FGD1 (R519C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 521366	NM_004463.3(FGD1):c.1549G>A (p.Val517Met)	FGD1 (V517M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 734713	NM_004463.3(FGD1):c.1464C>T (p.Ser488=)	FGD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 521263	NM_004463.3(FGD1):c.1328G>A (p.Arg443His)	FGD1 (R443H)	Single nucleotide variant (missense variant)	Aarskog syndrome +2 more	GLikely pathogenic
Select item 3094597	NM_004463.3(FGD1):c.1251_1253del (p.Val418del)	FGD1 (V418del)	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 1335773	NM_004463.3(FGD1):c.1192-4A>G	FGD1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 588582	NM_004463.3(FGD1):c.1102-4C>A	FGD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2232264	NM_004463.3(FGD1):c.1076del (p.Leu359fs)	FGD1 (L359fs)	Deletion (frameshift variant)	FGD1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2614313	NM_004463.3(FGD1):c.1072C>T (p.Pro358Ser)	FGD1 (P358S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520638	NM_004463.3(FGD1):c.997C>T (p.Gln333Ter)	FGD1 (Q333*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2231779	NM_004463.3(FGD1):c.977A>G (p.Asp326Gly)	FGD1 (D326G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1768154	NM_004463.3(FGD1):c.977A>C (p.Asp326Ala)	FGD1 (D326A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226715	NM_004463.3(FGD1):c.956G>A (p.Ser319Asn)	FGD1 (S319N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 10828	NM_004463.3(FGD1):c.935C>T (p.Pro312Leu)	FGD1 (P312L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2281507	NM_004463.3(FGD1):c.842G>A (p.Arg281Gln)	FGD1 (R281Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1757212	NM_004463.3(FGD1):c.710del (p.Gly237fs)	FGD1 (G237fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 95094	NM_004463.3(FGD1):c.676G>A (p.Ala226Thr)	FGD1 (A226T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1752767	NM_004463.3(FGD1):c.630A>G (p.Ala210=)	FGD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 196390	NM_004463.3(FGD1):c.622T>C (p.Ser208Pro)	FGD1 (S208P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2397084	NM_004463.3(FGD1):c.527C>T (p.Pro176Leu)	FGD1 (P176L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1984252	NM_004463.3(FGD1):c.527C>A (p.Pro176Gln)	FGD1 (P176Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 374329	NM_004463.3(FGD1):c.527del (p.Pro176fs)	FGD1 (P176fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 981331	NM_004463.3(FGD1):c.515G>A (p.Arg172Gln)	FGD1 (R172Q)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GUncertain significance
Select item 731821	NM_004463.3(FGD1):c.501C>T (p.Tyr167=)	FGD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3094601	NM_004463.3(FGD1):c.470C>T (p.Pro157Leu)	FGD1 (P157L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537174	NM_004463.3(FGD1):c.451C>G (p.Leu151Val)	FGD1 (L151V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 590236	NM_004463.3(FGD1):c.415C>T (p.Pro139Ser)	FGD1 (P139S)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder	GUncertain significance
Select item 1736999	NM_004463.3(FGD1):c.400C>T (p.Arg134Cys)	FGD1 (R134C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 95092	NM_004463.3(FGD1):c.395G>A (p.Arg132Gln)	FGD1 (R132Q)	Single nucleotide variant (missense variant)	Aarskog syndrome +4 more	GBenign/Likely benign
Select item 2544285	NM_004463.3(FGD1):c.238G>A (p.Gly80Ser)	FGD1 (G80S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 703337	NM_004463.3(FGD1):c.234C>T (p.Pro78=)	FGD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign
Select item 2615183	NM_004463.3(FGD1):c.222C>A (p.His74Gln)	FGD1 (H74Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1775490	NM_004463.3(FGD1):c.156T>C (p.Leu52=)	FGD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2531712	NM_004463.3(FGD1):c.131C>T (p.Ala44Val)	FGD1 (A44V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 589427	NM_004463.3(FGD1):c.119C>T (p.Pro40Leu)	FGD1 (P40L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 95078	NM_004463.3(FGD1):c.110C>T (p.Ala37Val)	FGD1 (A37V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 872365	NM_004463.3(FGD1):c.106G>A (p.Gly36Arg)	FGD1 (G36R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 798015	NM_004463.3(FGD1):c.85G>C (p.Ala29Pro)	FGD1 (A29P)	Single nucleotide variant (missense variant)	FGD1-related disorder +2 more	GBenign/Likely benign
Select item 928839	NM_004463.3(FGD1):c.68C>G (p.Pro23Arg)	FGD1 (P23R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 447320	NM_004463.3(FGD1):c.62A>T (p.Asn21Ile)	FGD1 (N21I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1741783	NM_004463.3(FGD1):c.45C>G (p.Pro15=)	FGD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3094600	NM_004463.3(FGD1):c.44C>A (p.Pro15His)	FGD1 (P15H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 421839	NM_004463.3(FGD1):c.26dup (p.Ala10fs)	FGD1 (A10fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 193282	NM_004463.3(FGD1):c.27C>T (p.Gly9=)	FGD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3094598	NM_004463.3(FGD1):c.22G>A (p.Gly8Arg)	FGD1 (G8R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 95077	NM_004463.3(FGD1):c.-4G>C	FGD1	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign

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