"OMIM"[submitter] AND "ELANE"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16740	NM_001972.4(ELANE):c.182C>T (p.Ala61Val)	ELANE (A61V)	Single nucleotide variant (missense variant)	Cyclical neutropenia +2 more	GPathogenic/Likely pathogenic
Select item 16746	NM_001972.4(ELANE):c.211T>C (p.Cys71Arg)	ELANE (C71R)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant	GPathogenic
Select item 16744	NM_001972.4(ELANE):c.214G>A (p.Val72Met)	ELANE (V72M)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 16747	NM_001972.2(ELANE):c.[292G>T;301G>T]	ELANE (V101L +1 more)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant	GPathogenic
Select item 16745	NM_001972.4(ELANE):c.377C>T (p.Ser126Leu)	CFD, ELANE (S126L)	Single nucleotide variant (missense variant)	Cyclical neutropenia +2 more	GPathogenic
Select item 16743	NM_001972.4(ELANE):c.416C>T (p.Pro139Leu)	ELANE (P139L)	Single nucleotide variant (missense variant)	Cyclical neutropenia +2 more	GPathogenic/Likely pathogenic
Select item 242287	NM_001972.4(ELANE):c.597+1G>A	ELANE	Single nucleotide variant (splice donor variant)	Neutropenia, severe congenital, 1, autosomal dominant +2 more	GPathogenic
Select item 245598	NM_001972.4(ELANE):c.597+5G>A	ELANE	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 1, autosomal dominant +2 more	GPathogenic
Select item 16739	NM_001972.4(ELANE):c.618G>T (p.Leu206Phe)	ELANE (L206F)	Single nucleotide variant (missense variant)	Cyclical neutropenia	GPathogenic
Select item 16748	NM_001972.4(ELANE):c.640G>A (p.Gly214Arg)	ELANE (G214R)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +2 more	GPathogenic
Select item 16738	NM_001972.4(ELANE):c.659G>A (p.Arg220Gln)	ELANE (R220Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic