FAHD2A[gene] and "single gene"[properties] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3091600	NM_016044.3(FAHD2A):c.19A>G (p.Arg7Gly)	FAHD2A (R7G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283135	NM_016044.3(FAHD2A):c.76G>T (p.Asp26Tyr)	FAHD2A (D26Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217190	NM_016044.3(FAHD2A):c.108C>G (p.His36Gln)	FAHD2A (H36Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543813	NM_016044.3(FAHD2A):c.148G>A (p.Gly50Arg)	FAHD2A (G50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091599	NM_016044.3(FAHD2A):c.152G>A (p.Gly51Glu)	FAHD2A (G51E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651120	NM_016044.3(FAHD2A):c.195G>A (p.Thr65=)	FAHD2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2222543	NM_016044.3(FAHD2A):c.199A>G (p.Thr67Ala)	FAHD2A (T67A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651121	NM_016044.3(FAHD2A):c.213G>A (p.Glu71=)	FAHD2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3091601	NM_016044.3(FAHD2A):c.224C>G (p.Ala75Gly)	FAHD2A (A75G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091602	NM_016044.3(FAHD2A):c.268G>C (p.Val90Leu)	FAHD2A (V90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322967	NM_016044.3(FAHD2A):c.277C>T (p.Arg93Trp)	FAHD2A (R93W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218698	NM_016044.3(FAHD2A):c.296T>G (p.Leu99Arg)	FAHD2A (L99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277063	NM_016044.3(FAHD2A):c.302C>T (p.Pro101Leu)	FAHD2A (P101L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396927	NM_016044.3(FAHD2A):c.317A>C (p.Asp106Ala)	FAHD2A (D106A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091603	NM_016044.3(FAHD2A):c.328T>C (p.Cys110Arg)	FAHD2A (C110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553895	NM_016044.3(FAHD2A):c.340A>G (p.Asn114Asp)	FAHD2A (N114D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210762	NM_016044.3(FAHD2A):c.370G>A (p.Val124Met)	FAHD2A (V124M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208265	NM_016044.3(FAHD2A):c.371T>A (p.Val124Glu)	FAHD2A (V124E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091604	NM_016044.3(FAHD2A):c.383A>G (p.Lys128Arg)	FAHD2A (K128R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234236	NM_016044.3(FAHD2A):c.398T>C (p.Phe133Ser)	FAHD2A (F133S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622029	NM_016044.3(FAHD2A):c.412A>G (p.Ser138Gly)	FAHD2A (S138G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091605	NM_016044.3(FAHD2A):c.467T>G (p.Val156Gly)	FAHD2A (V156G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277064	NM_016044.3(FAHD2A):c.571G>A (p.Val191Met)	FAHD2A (V191M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370195	NM_016044.3(FAHD2A):c.580C>T (p.Arg194Cys)	FAHD2A (R194C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508649	NM_016044.3(FAHD2A):c.686A>T (p.Asp229Val)	FAHD2A (D229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303833	NM_016044.3(FAHD2A):c.705C>G (p.Ile235Met)	FAHD2A (I235M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466875	NM_016044.3(FAHD2A):c.823A>G (p.Ile275Val)	FAHD2A (I275V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277065	NM_016044.3(FAHD2A):c.839C>T (p.Pro280Leu)	FAHD2A (P280L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091607	NM_016044.3(FAHD2A):c.841C>A (p.Pro281Thr)	FAHD2A (P281T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 29