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

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Items: 70

	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 793397	NM_005663.5(NELFA):c.1362C>T (p.Pro454=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654585	NM_005663.5(NELFA):c.1356G>A (p.Thr452=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710318	NM_005663.5(NELFA):c.1335C>T (p.Phe445=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 788777	NM_005663.5(NELFA):c.1290C>T (p.Asn430=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 720183	NM_005663.5(NELFA):c.1251G>A (p.Pro417=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 771140	NM_005663.5(NELFA):c.1209C>T (p.Val403=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 734593	NM_005663.5(NELFA):c.1170G>A (p.Ala390=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 734801	NM_005663.5(NELFA):c.1160C>T (p.Thr387Met)	NELFA (T387M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 722458	NM_005663.5(NELFA):c.1104G>A (p.Ala368=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 750368	NM_005663.5(NELFA):c.1080C>T (p.Ser360=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	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 787171	NM_005663.5(NELFA):c.1023C>T (p.Ser341=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 732754	NM_005663.5(NELFA):c.1012A>G (p.Ile338Val)	NELFA (I338V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 721255	NM_005663.5(NELFA):c.1003T>G (p.Ser335Ala)	NELFA (S335A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789469	NM_005663.5(NELFA):c.1000G>A (p.Ala334Thr)	NELFA (A334T)	Single nucleotide variant (missense variant)	not provided	GBenign
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 728507	NM_005663.5(NELFA):c.966G>A (p.Thr322=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 709406	NM_005663.5(NELFA):c.925-10dup	NELFA	Duplication (intron variant)	not provided	GBenign
Select item 720327	NM_005663.5(NELFA):c.924+10G>A	NELFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 756264	NM_005663.5(NELFA):c.906C>T (p.Ala302=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742126	NM_005663.5(NELFA):c.891C>T (p.Thr297=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 734594	NM_005663.5(NELFA):c.798C>T (p.Gly266=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3257139	NM_005663.5(NELFA):c.691G>A (p.Val231Ile)	NELFA (V231I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 762292	NM_005663.5(NELFA):c.681G>A (p.Thr227=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744568	NM_005663.5(NELFA):c.672A>G (p.Arg224=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718432	NM_005663.5(NELFA):c.661G>C (p.Ala221Pro)	NELFA (A221P)	Single nucleotide variant (missense variant)	not provided	GBenign
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 720328	NM_005663.5(NELFA):c.588C>A (p.Pro196=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654586	NM_005663.5(NELFA):c.576C>T (p.Ser192=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718851	NM_005663.5(NELFA):c.528G>A (p.Ala176=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 750082	NM_005663.5(NELFA):c.477G>A (p.Pro159=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717075	NM_005663.5(NELFA):c.441C>T (p.Asn147=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728737	NM_005663.5(NELFA):c.399G>A (p.Ala133=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725054	NM_005663.5(NELFA):c.383-6C>T	NELFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 761394	NM_005663.5(NELFA):c.383-10T>G	NELFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 722052	NM_005663.5(NELFA):c.315G>A (p.Ser105=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719091	NM_005663.5(NELFA):c.309A>C (p.Thr103=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 753115	NM_005663.5(NELFA):c.282C>T (p.Ala94=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 741181	NM_005663.5(NELFA):c.279C>T (p.Val93=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748442	NM_005663.5(NELFA):c.211-4G>C	NELFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 798933	NM_005663.5(NELFA):c.150G>C (p.Ser50=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 740659	NM_005663.5(NELFA):c.75G>A (p.Ala25=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 759147	NM_005663.5(NELFA):c.24C>T (p.Asp8=)	NELFA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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: 70