1053[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 714668	NM_001805.4(CEBPE):c.842G>A (p.Ser281Asn)	CEBPE (S281N)	Single nucleotide variant (missense variant)	Specific granule deficiency 1 +2 more	GConflicting classifications of pathogenicity
Select item 2266600	NM_001805.4(CEBPE):c.833G>A (p.Gly278Glu)	CEBPE (G278E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439893	NM_001805.4(CEBPE):c.829G>A (p.Val277Met)	CEBPE (V277M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 787006	NM_001805.4(CEBPE):c.828C>T (p.Gly276=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency +1 more	GLikely benign
Select item 1007479	NM_001805.4(CEBPE):c.820A>G (p.Ile274Val)	CEBPE (I274V)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 1143437	NM_001805.4(CEBPE):c.813C>T (p.Ala271=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 1139583	NM_001805.4(CEBPE):c.810G>A (p.Ala270=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 1647269	NM_001805.4(CEBPE):c.804T>C (p.Pro268=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 3020916	NM_001805.4(CEBPE):c.798G>A (p.Gln266=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 1531344	NM_001805.4(CEBPE):c.795C>G (p.Arg265=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 1015584	NM_001805.4(CEBPE):c.794G>A (p.Arg265His)	CEBPE (R265H)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 2621113	NM_001805.4(CEBPE):c.793C>T (p.Arg265Cys)	CEBPE (R265C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141870	NM_001805.4(CEBPE):c.790T>G (p.Phe264Val)	CEBPE (F264V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 795218	NM_001805.4(CEBPE):c.789C>G (p.Leu263=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 2122124	NM_001805.4(CEBPE):c.779T>G (p.Leu260Arg)	CEBPE (L260R)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 855048	NM_001805.4(CEBPE):c.778C>T (p.Leu260Phe)	CEBPE (L260F)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 2895439	NM_001805.4(CEBPE):c.772G>A (p.Asp258Asn)	CEBPE (D258N)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 1705852	NM_001805.4(CEBPE):c.742_747del (p.Ser248_Arg249del)	CEBPE	Deletion (inframe_indel +1 more)	Specific granule deficiency 1	GPathogenic
Select item 461468	NM_001805.4(CEBPE):c.747C>T (p.Arg249=)	CEBPE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2329723	NM_001805.4(CEBPE):c.742A>C (p.Ser248Arg)	CEBPE (S248R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1363073	NM_001805.4(CEBPE):c.740G>A (p.Arg247His)	CEBPE (R247H)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 1956268	NM_001805.4(CEBPE):c.733C>T (p.Arg245Cys)	CEBPE (R245C)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 1654505	NM_001805.4(CEBPE):c.729C>T (p.Asn243=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 1980478	NM_001805.4(CEBPE):c.723A>G (p.Ala241=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 1405865	NM_001805.4(CEBPE):c.721G>A (p.Ala241Thr)	CEBPE (A241T)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 3141869	NM_001805.4(CEBPE):c.712G>C (p.Glu238Gln)	CEBPE (E238Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1594290	NM_001805.4(CEBPE):c.711G>A (p.Leu237=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 2197315	NM_001805.4(CEBPE):c.680G>A (p.Arg227Lys)	CEBPE (R227K)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 425036	NM_001805.4(CEBPE):c.680G>C (p.Arg227Thr)	CEBPE (R227T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779784	NM_001805.4(CEBPE):c.669C>T (p.Asp223=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 1705854	NM_001805.4(CEBPE):c.655_665del (p.Lys220fs)	CEBPE (K220fs)	Deletion (frameshift variant)	Specific granule deficiency 1	GPathogenic
Select item 565423	NM_001805.4(CEBPE):c.662G>A (p.Ser221Asn)	CEBPE (S221N)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 842523	NM_001805.4(CEBPE):c.657C>T (p.Arg219=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GUncertain significance
Select item 1705850	NM_001805.4(CEBPE):c.656G>A (p.Arg219His)	CEBPE	Single nucleotide variant (missense variant)	Pelger-Huet-like anomaly and episodic fever with abdominal pain	GPathogenic
Select item 982783	NM_001805.4(CEBPE):c.653T>C (p.Val218Ala)	CEBPE (V218A)	Single nucleotide variant (missense variant)	Specific granule deficiency 1	GLikely pathogenic
Select item 2792535	NM_001805.4(CEBPE):c.645C>T (p.Asn215=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 1663390	NM_001805.4(CEBPE):c.642C>T (p.Asn214=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 2115359	NM_001805.4(CEBPE):c.638G>A (p.Arg213His)	CEBPE (R213H)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 1506616	NM_001805.4(CEBPE):c.637C>T (p.Arg213Cys)	CEBPE (R213C)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 1990524	NM_001805.4(CEBPE):c.624G>A (p.Arg208=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 2383889	NM_001805.4(CEBPE):c.613C>T (p.Leu205Phe)	CEBPE (L205F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 658176	NM_001805.4(CEBPE):c.611G>C (p.Ser204Thr)	CEBPE (S204T)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 1089228	NM_001805.4(CEBPE):c.609T>C (p.Asp203=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 1093384	NM_001805.4(CEBPE):c.603C>T (p.Asn201=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 1389470	NM_001805.4(CEBPE):c.601A>G (p.Asn201Asp)	CEBPE (N201D)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 1017403	NM_001805.4(CEBPE):c.587G>A (p.Gly196Asp)	CEBPE (G196D)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 1414319	NM_001805.4(CEBPE):c.586G>A (p.Gly196Ser)	CEBPE (G196S)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 1040516	NM_001805.4(CEBPE):c.586G>T (p.Gly196Cys)	CEBPE (G196C)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 1958117	NM_001805.4(CEBPE):c.581A>C (p.His194Pro)	CEBPE (H194P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2180606	NM_001805.4(CEBPE):c.575C>T (p.Pro192Leu)	CEBPE (P192L)	Single nucleotide variant (missense variant)	Specific granule deficiency +1 more	GUncertain significance
Select item 2791493	NM_001805.4(CEBPE):c.573C>T (p.Gly191=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 967204	NM_001805.4(CEBPE):c.567_568dup (p.Ala190fs)	CEBPE (A190fs)	Duplication (frameshift variant)	Specific granule deficiency	GUncertain significance
Select item 2731663	NM_001805.4(CEBPE):c.567G>T (p.Pro189=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 1431074	NM_001805.4(CEBPE):c.567G>A (p.Pro189=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 1154499	NM_001805.4(CEBPE):c.567G>C (p.Pro189=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 850508	NM_001805.4(CEBPE):c.565C>T (p.Pro189Ser)	CEBPE (P189S)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 2029757	NM_001805.4(CEBPE):c.564C>T (p.Ser188=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 727768	NM_001805.4(CEBPE):c.558G>A (p.Ala186=)	CEBPE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1986808	NM_001805.4(CEBPE):c.554A>C (p.Lys185Thr)	CEBPE (K185T)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 664942	NM_001805.4(CEBPE):c.551T>C (p.Leu184Pro)	CEBPE (L184P)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 1500041	NM_001805.4(CEBPE):c.547C>T (p.Leu183Phe)	CEBPE (L183F)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 2868836	NM_001805.4(CEBPE):c.546C>T (p.Pro182=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 834881	NM_001805.4(CEBPE):c.536C>T (p.Pro179Leu)	CEBPE (P179L)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 2150438	NM_001805.4(CEBPE):c.534C>A (p.Pro178=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 1160044	NM_001805.4(CEBPE):c.534C>T (p.Pro178=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 3007862	NM_001805.4(CEBPE):c.525T>C (p.Thr175=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 1045817	NM_001805.4(CEBPE):c.524C>G (p.Thr175Ser)	CEBPE (T175S)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 2167531	NM_001805.4(CEBPE):c.517T>G (p.Leu173Val)	CEBPE (L173V)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 2085203	NM_001805.4(CEBPE):c.512C>A (p.Ala171Asp)	CEBPE (A171D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2965198	NM_001805.4(CEBPE):c.511-7C>T	CEBPE	Single nucleotide variant (intron variant)	Specific granule deficiency	GLikely benign
Select item 1166761	NM_001805.4(CEBPE):c.511-15T>G	CEBPE	Single nucleotide variant (intron variant)	Specific granule deficiency +1 more	GBenign
Select item 1583492	NM_001805.4(CEBPE):c.511-17C>T	CEBPE	Single nucleotide variant (intron variant)	Specific granule deficiency	GLikely benign
Select item 1907802	NM_001805.4(CEBPE):c.511-20C>G	CEBPE	Single nucleotide variant (intron variant)	Specific granule deficiency	GLikely benign
Select item 1167151	NM_001805.4(CEBPE):c.511-24G>A	CEBPE	Single nucleotide variant (intron variant)	Specific granule deficiency +1 more	GBenign
Select item 2899973	NM_001805.4(CEBPE):c.510+15G>A	CEBPE	Single nucleotide variant (intron variant)	Specific granule deficiency	GLikely benign
Select item 2730259	NM_001805.4(CEBPE):c.510+10G>A	CEBPE	Single nucleotide variant (intron variant)	Specific granule deficiency	GLikely benign
Select item 2754479	NM_001805.4(CEBPE):c.510+6A>G	CEBPE	Single nucleotide variant (intron variant)	Specific granule deficiency	GUncertain significance
Select item 8855	NM_001805.4(CEBPE):c.509dup (p.Ala171fs)	CEBPE (A171fs)	Duplication (frameshift variant)	Specific granule deficiency 1	GPathogenic
Select item 1138395	NM_001805.4(CEBPE):c.504T>C (p.Val168=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 657093	NM_001805.4(CEBPE):c.502G>A (p.Val168Ile)	CEBPE (V168I)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 1106960	NM_001805.4(CEBPE):c.501C>T (p.Arg167=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 659768	NM_001805.4(CEBPE):c.499C>T (p.Arg167Cys)	CEBPE (R167C)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 461467	NM_001805.4(CEBPE):c.496C>G (p.Leu166Val)	CEBPE (L166V)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 530666	NM_001805.4(CEBPE):c.487G>A (p.Gly163Ser)	CEBPE (G163S)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 1132822	NM_001805.4(CEBPE):c.486C>T (p.Pro162=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 1025947	NM_001805.4(CEBPE):c.484C>A (p.Pro162Thr)	CEBPE (P162T)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 1056834	NM_001805.4(CEBPE):c.469C>T (p.Pro157Ser)	CEBPE (P157S)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 530670	NM_001805.4(CEBPE):c.463C>A (p.Leu155Met)	CEBPE (L155M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3014210	NM_001805.4(CEBPE):c.452_453delinsGC (p.Thr151Ser)	CEBPE (T151S)	Indel (missense variant)	Specific granule deficiency	GUncertain significance
Select item 1043215	NM_001805.4(CEBPE):c.437C>T (p.Ala146Val)	CEBPE (A146V)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 1960332	NM_001805.4(CEBPE):c.436G>T (p.Ala146Ser)	CEBPE (A146S)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 1017224	NM_001805.4(CEBPE):c.410G>A (p.Ser137Asn)	CEBPE (S137N)	Single nucleotide variant (missense variant)	Specific granule deficiency +1 more	GUncertain significance

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