ClinVar for MedGen (Select 348506) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248449	NC_000019.9:g.(?_855544)_(856164_?)del	ELANE	Deletion	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 3248448	NC_000019.9:g.(?_852329)_(853423_?)del	ELANE	Deletion	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2954228	NM_001972.4(ELANE):c.67+7T>A	ELANE	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign
Select item 2952578	NM_001972.4(ELANE):c.761G>A (p.Cys254Tyr)	ELANE (C254Y)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2951320	NM_001972.4(ELANE):c.225-6C>T	ELANE	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign
Select item 2950918	NM_001972.4(ELANE):c.740A>T (p.Gln247Leu)	ELANE (Q247L)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2950424	NM_001972.4(ELANE):c.123_124insA (p.Pro42fs)	ELANE (P42fs)	Insertion (frameshift variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2950411	NM_001972.4(ELANE):c.150C>A (p.Arg50=)	ELANE	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign
Select item 2950121	NM_001972.4(ELANE):c.117C>G (p.His39Gln)	ELANE (H39Q)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2949609	NM_001972.4(ELANE):c.224+4A>T	ELANE	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2949371	NM_001972.4(ELANE):c.568G>C (p.Val190Leu)	ELANE (V190L)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2948813	NM_001972.4(ELANE):c.366+13G>C	ELANE	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign
Select item 2948037	NM_001972.4(ELANE):c.636C>A (p.Ile212=)	ELANE	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign
Select item 2947517	NM_001972.4(ELANE):c.396C>A (p.Asn132Lys)	ELANE (N132K)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2947200	NM_001972.4(ELANE):c.129C>G (p.Phe43Leu)	ELANE (F43L)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GPathogenic
Select item 2946866	NM_001972.4(ELANE):c.746C>G (p.Ser249Cys)	ELANE (S249C)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2946202	NM_001972.4(ELANE):c.165C>A (p.Cys55Ter)	ELANE (C55*)	Single nucleotide variant (nonsense)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2945607	NM_001972.4(ELANE):c.120G>A (p.Ala40=)	ELANE	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign
Select item 2944224	NM_001972.4(ELANE):c.367-1G>A	ELANE	Single nucleotide variant (splice acceptor variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely pathogenic
Select item 2942789	NM_001972.4(ELANE):c.639del (p.His213fs)	ELANE (H213fs)	Deletion (frameshift variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GPathogenic
Select item 2942661	NM_001972.4(ELANE):c.735C>T (p.Ile245=)	ELANE	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign
Select item 2941763	NM_001972.4(ELANE):c.525G>T (p.Thr175=)	ELANE	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign
Select item 2941465	NM_001972.4(ELANE):c.355G>C (p.Val119Leu)	ELANE (V119L)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2940865	NM_001972.4(ELANE):c.247G>A (p.Val83Ile)	ELANE (V83I)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2940800	NM_001972.4(ELANE):c.597+5G>C	ELANE	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2940528	NM_001972.4(ELANE):c.22G>C (p.Ala8Pro)	ELANE (A8P)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2940214	NM_001972.4(ELANE):c.295T>C (p.Phe99Leu)	ELANE (F99L)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2940141	NM_001972.4(ELANE):c.410_416del (p.Gln137fs)	ELANE (Q137fs)	Deletion (frameshift variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2939435	NM_001972.4(ELANE):c.733_737dup (p.Gln247fs)	ELANE (Q247fs)	Duplication (frameshift variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2938455	NM_001972.4(ELANE):c.411G>C (p.Gln137His)	ELANE (Q137H)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2937914	NM_001972.4(ELANE):c.401A>G (p.Gln134Arg)	ELANE (Q134R)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2937475	NM_001972.4(ELANE):c.525G>A (p.Thr175=)	ELANE	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign
Select item 2937101	NM_001972.4(ELANE):c.644T>C (p.Ile215Thr)	ELANE (I215T)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2936533	NM_001972.4(ELANE):c.225-8C>G	ELANE	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign
Select item 2936094	NM_001972.4(ELANE):c.509A>G (p.Gln170Arg)	ELANE (Q170R)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2935864	NM_001972.4(ELANE):c.533C>T (p.Thr178Met)	ELANE (T178M)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2934329	NM_001972.4(ELANE):c.366+23del	ELANE	Deletion (intron variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GBenign
Select item 2933841	NM_001972.4(ELANE):c.403G>T (p.Val135Leu)	ELANE (V135L)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2933528	NM_001972.4(ELANE):c.391G>A (p.Ala131Thr)	ELANE (A131T)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2933429	NM_001972.4(ELANE):c.225-3C>T	ELANE	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2933072	NM_001972.4(ELANE):c.96G>A (p.Gly32=)	ELANE	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign
Select item 2932732	NM_001972.4(ELANE):c.282C>T (p.Pro94=)	ELANE	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign
Select item 2932141	NM_001972.4(ELANE):c.233G>T (p.Arg78Leu)	ELANE (R78L)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2931545	NM_001972.4(ELANE):c.597+14G>A	ELANE	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign
Select item 2930990	NM_001972.4(ELANE):c.229G>A (p.Val77Ile)	ELANE (V77I)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2930900	NM_001972.4(ELANE):c.482G>A (p.Arg161Lys)	ELANE (R161K)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2930530	NM_001972.4(ELANE):c.205G>A (p.Ala69Thr)	ELANE (A69T)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2929886	NM_001972.4(ELANE):c.85G>A (p.Glu29Lys)	ELANE (E29K)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2929036	NM_001972.4(ELANE):c.583G>A (p.Ala195Thr)	ELANE (A195T)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2928959	NM_001972.4(ELANE):c.803G>C (p.Ter268Ser)	ELANE	Single nucleotide variant (stop lost)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2928722	NM_001972.4(ELANE):c.469G>A (p.Gly157Ser)	ELANE (G157S)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2927104	NM_001972.4(ELANE):c.584C>A (p.Ala195Asp)	ELANE (A195D)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2926794	NM_001972.4(ELANE):c.336A>G (p.Val112=)	ELANE	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign
Select item 2926530	NM_001972.4(ELANE):c.751G>T (p.Asp251Tyr)	ELANE (D251Y)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2926000	NM_001972.4(ELANE):c.779C>T (p.Pro260Leu)	ELANE (P260L)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2925635	NM_001972.4(ELANE):c.724A>T (p.Ile242Phe)	ELANE (I242F)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2925634	NM_001972.4(ELANE):c.570G>A (p.Val190=)	ELANE	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely pathogenic
Select item 2925630	NM_001972.4(ELANE):c.164G>A (p.Cys55Tyr)	ELANE (C55Y)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GPathogenic
Select item 2925629	NM_001972.4(ELANE):c.133G>A (p.Val45Met)	ELANE (V45M)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2925125	NM_001972.4(ELANE):c.516C>G (p.Leu172=)	ELANE	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign
Select item 2924671	NM_001972.4(ELANE):c.322G>T (p.Gly108Cys)	ELANE (G108C)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2924453	NM_001972.4(ELANE):c.648C>T (p.Ala216=)	ELANE	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign
Select item 2924016	NM_001972.4(ELANE):c.225-16T>C	ELANE	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign
Select item 2923724	NM_001972.4(ELANE):c.488G>A (p.Arg163His)	ELANE (R163H)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2923710	NM_001972.4(ELANE):c.597+4C>T	ELANE	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2923630	NM_001972.4(ELANE):c.131_141del (p.Met44fs)	ELANE (M44fs)	Deletion (frameshift variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2923507	NM_001972.4(ELANE):c.225-17C>T	ELANE	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign
Select item 2923204	NM_001972.4(ELANE):c.597+17T>G	ELANE	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign
Select item 2923148	NM_001972.4(ELANE):c.319A>G (p.Asn107Asp)	ELANE (N107D)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2923122	NM_001972.4(ELANE):c.598-17del	ELANE	Deletion (intron variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign
Select item 2922994	NM_001972.4(ELANE):c.597+19C>G	ELANE	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign
Select item 2922865	NM_001972.4(ELANE):c.607G>A (p.Gly203Ser)	ELANE (G203S)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely pathogenic
Select item 2922567	NM_001972.4(ELANE):c.269C>A (p.Ser90Ter)	ELANE (S90*)	Single nucleotide variant (nonsense)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2922499	NM_001972.4(ELANE):c.315C>T (p.Phe105=)	ELANE	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign
Select item 2922032	NM_001972.4(ELANE):c.271C>T (p.Arg91Trp)	ELANE (R91W)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2921938	NM_001972.4(ELANE):c.566dup (p.Val190fs)	ELANE (V190fs)	Duplication (frameshift variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2921881	NM_001972.4(ELANE):c.588C>T (p.Gly196=)	ELANE	Single nucleotide variant (synonymous variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign
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 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	NDUFS7, ONECUT3 +61 more	Duplication	Cyclical neutropenia +1 more	GUncertain significance
Select item 2424335	NC_000019.9:g.(?_852329)_(855814_?)dup	ELANE	Duplication	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2422038	NM_001972.4(ELANE):c.496G>A (p.Ala166Thr)	ELANE (A166T)	Single nucleotide variant (missense variant)	Cyclical neutropenia +1 more	GUncertain significance
Select item 2413449	NM_001972.4(ELANE):c.14G>T (p.Arg5Leu)	ELANE (R5L)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2196229	NM_001972.4(ELANE):c.200C>T (p.Ser67Leu)	ELANE (S67L)	Single nucleotide variant (missense variant)	Cyclical neutropenia +1 more	GUncertain significance
Select item 2195571	NM_001972.4(ELANE):c.270_273dup (p.Arg92fs)	ELANE (R92fs)	Duplication (frameshift variant)	Cyclical neutropenia +1 more	GUncertain significance
Select item 2194249	NM_001972.4(ELANE):c.487C>T (p.Arg163Cys)	ELANE (R163C)	Single nucleotide variant (missense variant)	Cyclical neutropenia +1 more	GUncertain significance
Select item 2188546	NM_001972.4(ELANE):c.214G>C (p.Val72Leu)	ELANE (V72L)	Single nucleotide variant (missense variant)	Cyclical neutropenia +1 more	GUncertain significance
Select item 2177206	NM_001972.4(ELANE):c.693C>G (p.Ala231=)	ELANE	Single nucleotide variant (synonymous variant)	Cyclical neutropenia +1 more	GLikely benign
Select item 2170115	NM_001972.4(ELANE):c.184C>T (p.Pro62Ser)	ELANE (P62S)	Single nucleotide variant (missense variant)	Cyclical neutropenia +1 more	GUncertain significance
Select item 2156434	NM_001972.4(ELANE):c.67+7T>C	ELANE	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign
Select item 2156128	NM_001972.4(ELANE):c.163T>C (p.Cys55Arg)	ELANE (C55R)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
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 2148828	NM_001972.4(ELANE):c.782A>G (p.Asp261Gly)	ELANE (D261G)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2141693	NM_001972.4(ELANE):c.349G>C (p.Asp117His)	ELANE (D117H)	Single nucleotide variant (missense variant)	Cyclical neutropenia +1 more	GUncertain significance
Select item 2141199	NM_001972.4(ELANE):c.367-3C>T	ELANE	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2138170	NM_001972.4(ELANE):c.416C>G (p.Pro139Arg)	ELANE (P139R)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GPathogenic
Select item 2138169	NM_001972.4(ELANE):c.197T>G (p.Met66Arg)	ELANE (M66R)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely pathogenic
Select item 2138167	NM_001972.4(ELANE):c.127T>C (p.Phe43Leu)	ELANE (F43L)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely pathogenic
Select item 2137709	NM_001972.4(ELANE):c.597C>T (p.Phe199=)	ELANE	Single nucleotide variant (synonymous variant)	Cyclical neutropenia +1 more	GUncertain significance
Select item 2128266	NM_001972.4(ELANE):c.790A>G (p.Ser264Gly)	ELANE (S264G)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2125735	NM_001972.4(ELANE):c.367-12C>T	ELANE	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign

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