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

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3088123	NM_001972.4(ELANE):c.80C>A (p.Ala27Asp)	ELANE (A27D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088124	NM_001972.4(ELANE):c.83C>T (p.Ser28Leu)	ELANE (S28L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1506968	NM_001972.4(ELANE):c.104G>A (p.Arg35Gln)	ELANE (R35Q)	Single nucleotide variant (missense variant)	Cyclical neutropenia +3 more	GConflicting classifications of pathogenicity
Select item 2480707	NM_001972.4(ELANE):c.112C>A (p.Pro38Thr)	ELANE (P38T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537915	NM_001972.4(ELANE):c.172A>T (p.Thr58Ser)	ELANE (T58S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 242290	NM_001972.4(ELANE):c.217G>A (p.Ala73Thr)	ELANE (A73T)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +4 more	GConflicting classifications of pathogenicity
Select item 1337210	NM_001972.4(ELANE):c.223G>A (p.Val75Ile)	ELANE (V75I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2542246	NM_001972.4(ELANE):c.235G>A (p.Ala79Thr)	ELANE (A79T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3275096	NM_001972.4(ELANE):c.247G>T (p.Val83Phe)	ELANE (V83F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1061917	NM_001972.4(ELANE):c.264C>A (p.Asn88Lys)	ELANE (N88K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 938192	NM_001972.4(ELANE):c.269C>T (p.Ser90Leu)	ELANE (S90L)	Single nucleotide variant (missense variant)	Cyclical neutropenia +2 more	GUncertain significance
Select item 3088122	NM_001972.4(ELANE):c.280C>A (p.Pro94Thr)	ELANE (P94T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 808415	NM_001972.4(ELANE):c.418G>A (p.Ala140Thr)	ELANE (A140T)	Single nucleotide variant (missense variant)	Cyclical neutropenia +3 more	GUncertain significance
Select item 654536	NM_001972.4(ELANE):c.430C>T (p.Arg144Cys)	ELANE (R144C)	Single nucleotide variant (missense variant)	Cyclical neutropenia +2 more	GUncertain significance
Select item 2552413	NM_001972.4(ELANE):c.441C>G (p.Asn147Lys)	ELANE (N147K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 430324	NM_001972.4(ELANE):c.472C>G (p.Leu158Val)	ELANE (L158V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1061538	NM_001972.4(ELANE):c.569T>G (p.Val190Gly)	ELANE (V190G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2307121	NM_001972.4(ELANE):c.584C>G (p.Ala195Gly)	ELANE (A195G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611622	NM_001972.4(ELANE):c.698C>T (p.Ala233Val)	ELANE (A233V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322038	NM_001972.4(ELANE):c.719A>C (p.Asn240Thr)	ELANE (N240T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556349	NM_001972.4(ELANE):c.733A>G (p.Ile245Val)	ELANE (I245V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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Items: 21