"PreventionGenetics, part of Exact Sciences"[submitter] AND "ELANE"[ge - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3030858	NC_000019.10:g.851457A>G	ELANE	Single nucleotide variant (genic upstream transcript variant)	ELANE-related disorder	GLikely benign
Select item 3057191	NC_000019.10:g.851482T>C	ELANE	Single nucleotide variant (genic upstream transcript variant)	ELANE-related disorder	GLikely benign
Select item 137203	NM_001972.3(ELANE):c.-41C>A	ELANE	Single nucleotide variant (genic upstream transcript variant)	Cyclical neutropenia +3 more	GBenign
Select item 3032788	NM_001972.4(ELANE):c.-5C>T	ELANE	Single nucleotide variant (5 prime UTR variant)	ELANE-related disorder	GLikely benign
Select item 2635364	NM_001972.4(ELANE):c.10G>C (p.Gly4Arg)	ELANE (G4R)	Single nucleotide variant (missense variant)	ELANE-related disorder	GUncertain significance
Select item 3059550	NM_001972.4(ELANE):c.61C>T (p.Leu21=)	ELANE	Single nucleotide variant (synonymous variant)	ELANE-related disorder	GLikely benign
Select item 258502	NM_001972.4(ELANE):c.99C>T (p.Gly33=)	ELANE	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1136280	NM_001972.4(ELANE):c.100C>T (p.Arg34Trp)	ELANE (R34W)	Single nucleotide variant (missense variant)	Cyclical neutropenia +2 more	GLikely benign
Select item 2632170	NM_001972.4(ELANE):c.133G>C (p.Val45Leu)	ELANE (V45L)	Single nucleotide variant (missense variant)	ELANE-related disorder	GLikely pathogenic
Select item 2630360	NM_001972.4(ELANE):c.157C>G (p.His53Asp)	ELANE (H53D)	Single nucleotide variant (missense variant)	ELANE-related disorder	GLikely pathogenic
Select item 258497	NM_001972.4(ELANE):c.171C>T (p.Ala57=)	ELANE	Single nucleotide variant (synonymous variant)	Cyclical neutropenia +2 more	GBenign/Likely benign
Select item 2151751	NM_001972.4(ELANE):c.173C>T (p.Thr58Ile)	ELANE (T58I)	Single nucleotide variant (missense variant)	Cyclical neutropenia +2 more	GUncertain significance
Select item 1694268	NM_001972.4(ELANE):c.228C>G (p.Asn76Lys)	ELANE (N76K)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 418179	NM_001972.4(ELANE):c.251T>C (p.Leu84Pro)	ELANE (L84P)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 418178	NM_001972.4(ELANE):c.308G>T (p.Arg103Leu)	ELANE (R103L)	Single nucleotide variant (missense variant)	ELANE-related disorder +1 more	GLikely pathogenic
Select item 1338207	NM_001972.4(ELANE):c.352A>G (p.Ile118Val)	ELANE (I118V)	Single nucleotide variant (missense variant)	ELANE-related disorder +4 more	GUncertain significance
Select item 1167914	NM_001972.4(ELANE):c.366+9G>A	ELANE	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 699385	NM_001972.4(ELANE):c.372C>T (p.Asn124=)	ELANE	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 1, autosomal dominant +3 more	GBenign/Likely benign
Select item 810991	NM_001972.4(ELANE):c.373G>A (p.Gly125Arg)	ELANE (G125R)	Single nucleotide variant (missense variant)	Cyclical neutropenia +3 more	GUncertain significance
Select item 702340	NM_001972.4(ELANE):c.380C>T (p.Ala127Val)	ELANE (A127V)	Single nucleotide variant (missense variant)	ELANE-related disorder +2 more	GLikely benign
Select item 258498	NM_001972.4(ELANE):c.390C>T (p.Asn130=)	ELANE	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 808415	NM_001972.4(ELANE):c.418G>A (p.Ala140Thr)	ELANE (A140T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1629468	NM_001972.4(ELANE):c.441C>T (p.Asn147=)	ELANE	Single nucleotide variant (synonymous variant)	ELANE-related disorder +2 more	GLikely benign
Select item 1104907	NM_001972.4(ELANE):c.495C>T (p.Ile165=)	ELANE	Single nucleotide variant (synonymous variant)	Cyclical neutropenia +2 more	GLikely benign
Select item 513424	NM_001972.4(ELANE):c.519C>T (p.Asn173=)	ELANE	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 242292	NM_001972.4(ELANE):c.578G>A (p.Arg193Gln)	ELANE (R193Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 242287	NM_001972.4(ELANE):c.597+1G>A	ELANE	Single nucleotide variant (splice donor variant)	Neutropenia, severe congenital, 1, autosomal dominant +3 more	GPathogenic
Select item 137200	NM_001972.4(ELANE):c.606C>T (p.Ser202=)	ELANE	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 137199	NM_001972.4(ELANE):c.606C>A (p.Ser202=)	ELANE	Single nucleotide variant (synonymous variant)	Cyclical neutropenia +3 more	GBenign
Select item 2635700	NM_001972.4(ELANE):c.612C>A (p.Ser204Arg)	ELANE (S204R)	Single nucleotide variant (missense variant)	ELANE-related disorder	GUncertain significance
Select item 258499	NM_001972.4(ELANE):c.654C>T (p.Phe218=)	ELANE	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 137201	NM_001972.4(ELANE):c.655G>A (p.Val219Ile)	ELANE (V219I)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 701487	NM_001972.4(ELANE):c.687C>T (p.Pro229=)	ELANE	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 1, autosomal dominant +3 more	GBenign/Likely benign
Select item 258500	NM_001972.4(ELANE):c.742C>T (p.Arg248Cys)	ELANE (R248C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 242288	NM_001972.4(ELANE):c.746C>T (p.Ser249Phe)	ELANE (S249F)	Single nucleotide variant (missense variant)	ELANE-related disorder +4 more	GBenign/Likely benign
Select item 258501	NM_001972.4(ELANE):c.770C>T (p.Pro257Leu)	ELANE (P257L)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1345307	NM_001972.4(ELANE):c.773G>A (p.Arg258Gln)	ELANE (R258Q)	Single nucleotide variant (missense variant)	ELANE-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1925958	NM_001972.4(ELANE):c.780G>A (p.Pro260=)	ELANE	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 1, autosomal dominant +2 more	GLikely benign
Select item 137202	NM_001972.4(ELANE):c.785C>T (p.Pro262Leu)	ELANE (P262L)	Single nucleotide variant (missense variant)	Cyclical neutropenia +4 more	GBenign/Likely benign

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Items: 39