"Ambry Genetics"[submitter] AND "FSD2"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2508516	NM_001007122.4(FSD2):c.2224A>G (p.Met742Val)	FSD2 (M697V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385451	NM_001007122.4(FSD2):c.2095A>G (p.Lys699Glu)	FSD2 (K654E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480629	NM_001007122.4(FSD2):c.2068G>A (p.Gly690Ser)	FSD2 (G645S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594756	NM_001007122.4(FSD2):c.2011T>C (p.Phe671Leu)	FSD2 (F671L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528050	NM_001007122.4(FSD2):c.1909G>C (p.Gly637Arg)	FSD2 (G592R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594270	NM_001007122.4(FSD2):c.1763G>A (p.Arg588Gln)	FSD2 (R543Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454777	NM_001007122.4(FSD2):c.1754C>T (p.Thr585Met)	FSD2 (T540M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340513	NM_001007122.4(FSD2):c.1698T>G (p.Phe566Leu)	FSD2 (F521L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405780	NM_001007122.4(FSD2):c.1685T>C (p.Ile562Thr)	FSD2 (I562T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2308086	NM_001007122.4(FSD2):c.1556C>G (p.Ser519Cys)	FSD2 (S519C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223494	NM_001007122.4(FSD2):c.1546G>A (p.Val516Ile)	FSD2 (V471I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223925	NM_001007122.4(FSD2):c.1517C>T (p.Thr506Ile)	FSD2 (T461I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460644	NM_001007122.4(FSD2):c.1499C>T (p.Ser500Leu)	FSD2 (S500L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516030	NM_001007122.4(FSD2):c.1432G>A (p.Glu478Lys)	FSD2 (E433K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234043	NM_001007122.4(FSD2):c.1414C>G (p.Pro472Ala)	FSD2 (P427A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484107	NM_001007122.4(FSD2):c.1378A>G (p.Ser460Gly)	FSD2 (S460G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591462	NM_001007122.4(FSD2):c.1292C>T (p.Thr431Ile)	FSD2 (T431I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456087	NM_001007122.4(FSD2):c.1261C>G (p.Gln421Glu)	FSD2 (Q421E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515768	NM_001007122.4(FSD2):c.1229G>A (p.Arg410Gln)	FSD2 (R410Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383474	NM_001007122.4(FSD2):c.1195G>A (p.Asp399Asn)	FSD2 (D399N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540564	NM_001007122.4(FSD2):c.1171C>G (p.Arg391Gly)	FSD2 (R391G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333769	NM_001007122.4(FSD2):c.1145C>T (p.Pro382Leu)	FSD2 (P382L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220493	NM_001007122.4(FSD2):c.1021G>A (p.Val341Met)	FSD2 (V341M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349048	NM_001007122.4(FSD2):c.994G>A (p.Gly332Arg)	FSD2 (G332R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596862	NM_001007122.4(FSD2):c.943G>A (p.Glu315Lys)	FSD2 (E315K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618556	NM_001007122.4(FSD2):c.700G>A (p.Ala234Thr)	FSD2 (A234T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494729	NM_001007122.4(FSD2):c.598C>G (p.His200Asp)	FSD2 (H200D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385949	NM_001007122.4(FSD2):c.475G>A (p.Glu159Lys)	FSD2 (E159K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470026	NM_001007122.4(FSD2):c.403G>A (p.Gly135Arg)	FSD2 (G135R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461914	NM_001007122.4(FSD2):c.260G>A (p.Gly87Glu)	FSD2 (G87E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290982	NM_001007122.4(FSD2):c.196G>C (p.Asp66His)	FSD2 (D66H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541674	NM_001007122.4(FSD2):c.180T>A (p.Asp60Glu)	FSD2 (D60E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552622	NM_001007122.4(FSD2):c.155C>T (p.Ala52Val)	FSD2 (A52V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 33