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

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2606437	NM_005663.5(NELFA):c.1547C>T (p.Thr516Met)	NELFA (T516M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534326	NM_005663.5(NELFA):c.1474G>T (p.Ala492Ser)	NELFA (A492S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2310598	NM_005663.5(NELFA):c.1429G>A (p.Val477Met)	NELFA (V477M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299243	NM_005663.5(NELFA):c.1428C>A (p.Asp476Glu)	NELFA (D476E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192653	NM_005663.5(NELFA):c.1259A>G (p.Gln420Arg)	NELFA (Q420R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192648	NM_005663.5(NELFA):c.1210G>A (p.Ala404Thr)	NELFA (A404T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2387538	NM_005663.5(NELFA):c.1202C>T (p.Pro401Leu)	NELFA (P401L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192646	NM_005663.5(NELFA):c.1166C>T (p.Ala389Val)	NELFA (A389V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192640	NM_005663.5(NELFA):c.1159A>C (p.Thr387Pro)	NELFA (T387P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235787	NM_005663.5(NELFA):c.1156C>G (p.Pro386Ala)	NELFA (P386A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595684	NM_005663.5(NELFA):c.1151C>T (p.Ala384Val)	NELFA (A384V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258630	NM_005663.5(NELFA):c.1121C>T (p.Ala374Val)	NELFA (A374V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379846	NM_005663.5(NELFA):c.1103C>T (p.Ala368Val)	NELFA (A368V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334028	NM_005663.5(NELFA):c.1081G>A (p.Ala361Thr)	NELFA (A361T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2273153	NM_005663.5(NELFA):c.1028C>T (p.Thr343Met)	NELFA (T343M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257426	NM_005663.5(NELFA):c.1012A>C (p.Ile338Leu)	NELFA (I338L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467071	NM_005663.5(NELFA):c.991G>C (p.Val331Leu)	NELFA (V331L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324025	NM_005663.5(NELFA):c.985C>T (p.Pro329Ser)	NELFA (P329S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192685	NM_005663.5(NELFA):c.965C>T (p.Thr322Met)	NELFA (T322M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192682	NM_005663.5(NELFA):c.847G>A (p.Val283Met)	NELFA (V283M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353848	NM_005663.5(NELFA):c.827A>G (p.Lys276Arg)	NELFA (K276R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299244	NM_005663.5(NELFA):c.746G>A (p.Arg249Gln)	NELFA (R249Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296133	NM_005663.5(NELFA):c.653C>T (p.Pro218Leu)	MIR943, NELFA (P218L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3192676	NM_005663.5(NELFA):c.611T>C (p.Leu204Pro)	NELFA (L204P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273724	NM_005663.5(NELFA):c.518C>T (p.Thr173Met)	NELFA (T173M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590437	NM_005663.5(NELFA):c.349G>A (p.Val117Ile)	NELFA (V117I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204077	NM_005663.5(NELFA):c.302C>T (p.Pro101Leu)	NELFA (P101L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397010	NM_005663.5(NELFA):c.107C>T (p.Ala36Val)	NELFA (A36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544727	NM_005663.5(NELFA):c.1A>G (p.Met1Val)	NELFA (M1V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408156	NM_005663.5(NELFA):c.-8C>T	NELFA	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2244539	NM_005663.4(NELFA):c.7G>C (p.Gly3Arg)	NELFA (G3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 31