ClinVar for Gene (Select 1053) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3141869	NM_001805.4(CEBPE):c.712G>C (p.Glu238Gln)	CEBPE (E238Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141868	NM_001805.4(CEBPE):c.335G>T (p.Ser112Ile)	CEBPE (S112I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3061545	NM_001805.4(CEBPE):c.189G>C (p.Ala63=)	CEBPE	Single nucleotide variant (synonymous variant)	CEBPE-related disorder	GLikely benign
Select item 3048987	NM_001805.4(CEBPE):c.-4G>A	CEBPE	Single nucleotide variant (5 prime UTR variant)	CEBPE-related disorder	GLikely benign
Select item 3030105	NM_001805.4(CEBPE):c.218G>T (p.Gly73Val)	CEBPE (G73V)	Single nucleotide variant (missense variant)	CEBPE-related disorder	GUncertain significance
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 3014210	NM_001805.4(CEBPE):c.452_453delinsGC (p.Thr151Ser)	CEBPE (T151S)	Indel (missense variant)	Specific granule deficiency	GUncertain significance
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 2982326	NM_001805.4(CEBPE):c.42C>T (p.Gly14=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 2973174	NM_001805.4(CEBPE):c.9C>G (p.His3Gln)	CEBPE (H3Q)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 2965692	NM_001805.4(CEBPE):c.339C>T (p.Tyr113=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 2965198	NM_001805.4(CEBPE):c.511-7C>T	CEBPE	Single nucleotide variant (intron variant)	Specific granule deficiency	GLikely benign
Select item 2912939	NM_001805.4(CEBPE):c.48G>A (p.Gln16=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 2899973	NM_001805.4(CEBPE):c.510+15G>A	CEBPE	Single nucleotide variant (intron variant)	Specific granule deficiency	GLikely benign
Select item 2896643	NM_001805.4(CEBPE):c.330A>G (p.Pro110=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 2895782	NM_001805.4(CEBPE):c.138C>T (p.Ile46=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
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 2883686	NM_001805.4(CEBPE):c.66G>C (p.Gly22=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 2877426	NM_001805.4(CEBPE):c.351T>C (p.Ala117=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
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 2802586	NM_001805.4(CEBPE):c.343C>A (p.Pro115Thr)	CEBPE (P115T)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
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 2791493	NM_001805.4(CEBPE):c.573C>T (p.Gly191=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
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 2754479	NM_001805.4(CEBPE):c.510+6A>G	CEBPE	Single nucleotide variant (intron 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 2730259	NM_001805.4(CEBPE):c.510+10G>A	CEBPE	Single nucleotide variant (intron variant)	Specific granule deficiency	GLikely benign
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2623907	NM_001805.4(CEBPE):c.344C>T (p.Pro115Leu)	CEBPE (P115L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2488301	NM_001805.4(CEBPE):c.307G>T (p.Gly103Trp)	CEBPE (G103W)	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 2424248	NC_000014.8:g.(?_23586696)_(23902941_?)del	BCL2L2, BCL2L2-PABPN1 +14 more	Deletion	Specific granule deficiency	GPathogenic
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	MRPL52, MYH6 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
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 2329723	NM_001805.4(CEBPE):c.742A>C (p.Ser248Arg)	CEBPE (S248R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2203933	NM_001805.4(CEBPE):c.244C>T (p.Pro82Ser)	CEBPE (P82S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2189631	NM_001805.4(CEBPE):c.20A>G (p.Tyr7Cys)	CEBPE (Y7C)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 2187427	NM_001805.4(CEBPE):c.302C>T (p.Ala101Val)	CEBPE (A101V)	Single nucleotide variant (missense variant)	Specific granule deficiency	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 2168096	NM_001805.4(CEBPE):c.188C>T (p.Ala63Val)	CEBPE (A63V)	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 2150438	NM_001805.4(CEBPE):c.534C>A (p.Pro178=)	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 2115359	NM_001805.4(CEBPE):c.638G>A (p.Arg213His)	CEBPE (R213H)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 2104913	NM_001805.4(CEBPE):c.157C>T (p.Leu53Phe)	CEBPE (L53F)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 2096495	NM_001805.4(CEBPE):c.228C>T (p.Ala76=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 2091001	NM_001805.4(CEBPE):c.303G>C (p.Ala101=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
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 2072699	NM_001805.4(CEBPE):c.272C>G (p.Pro91Arg)	CEBPE (P91R)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 2058459	NM_001805.4(CEBPE):c.213C>A (p.Gly71=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 2057915	NM_001805.4(CEBPE):c.225T>C (p.Pro75=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GBenign
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 2011070	NM_001805.4(CEBPE):c.227C>T (p.Ala76Val)	CEBPE (A76V)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 2003071	NM_001805.4(CEBPE):c.292G>C (p.Asp98His)	CEBPE (D98H)	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 1989825	NM_001805.4(CEBPE):c.165C>T (p.Ser55=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely 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 1980478	NM_001805.4(CEBPE):c.723A>G (p.Ala241=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 1960950	NM_001805.4(CEBPE):c.54C>G (p.Leu18=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
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 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 1956268	NM_001805.4(CEBPE):c.733C>T (p.Arg245Cys)	CEBPE (R245C)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 1940847	NM_001805.4(CEBPE):c.178G>A (p.Val60Met)	CEBPE (V60M)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 1924443	NM_001805.4(CEBPE):c.335G>A (p.Ser112Asn)	CEBPE (S112N)	Single nucleotide variant (missense variant)	Specific granule deficiency +1 more	GUncertain significance
Select item 1907802	NM_001805.4(CEBPE):c.511-20C>G	CEBPE	Single nucleotide variant (intron variant)	Specific granule deficiency	GLikely benign
Select item 1715334	NM_001805.4(CEBPE):c.38G>T (p.Gly13Val)	CEBPE (G13V)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 1705854	NM_001805.4(CEBPE):c.655_665del (p.Lys220fs)	CEBPE (K220fs)	Deletion (frameshift variant)	Specific granule deficiency 1	GPathogenic
Select item 1705853	NM_001805.4(CEBPE):c.403C>T (p.Arg135Ter)	CEBPE	Single nucleotide variant (nonsense)	Specific granule deficiency	GPathogenic
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 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 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
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 1654997	NM_001805.4(CEBPE):c.216C>G (p.Pro72=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
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 1647269	NM_001805.4(CEBPE):c.804T>C (p.Pro268=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 1631049	NM_001805.4(CEBPE):c.21C>T (p.Tyr7=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 1611360	NM_001805.4(CEBPE):c.270C>T (p.Tyr90=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 1607892	NM_001805.4(CEBPE):c.54C>A (p.Leu18=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 1607303	NM_001805.4(CEBPE):c.360G>A (p.Val120=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
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 1583492	NM_001805.4(CEBPE):c.511-17C>T	CEBPE	Single nucleotide variant (intron variant)	Specific granule deficiency	GLikely benign
Select item 1579673	NM_001805.4(CEBPE):c.189G>A (p.Ala63=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 1570072	NM_001805.4(CEBPE):c.156G>A (p.Gln52=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 1563975	NM_001805.4(CEBPE):c.222C>T (p.Thr74=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 1562011	NM_001805.4(CEBPE):c.399C>T (p.Ala133=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 1558656	NM_001805.4(CEBPE):c.81C>G (p.Pro27=)	CEBPE	Single nucleotide variant (synonymous variant)	Specific granule deficiency	GLikely benign
Select item 1557082	NM_001805.4(CEBPE):c.279T>C (p.His93=)	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 1521718	NM_001805.4(CEBPE):c.124C>A (p.Leu42Ile)	CEBPE (L42I)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 1518192	NM_001805.4(CEBPE):c.256C>T (p.Arg86Trp)	CEBPE (R86W)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 1507832	NM_001805.4(CEBPE):c.145G>A (p.Gly49Arg)	CEBPE (G49R)	Single nucleotide variant (missense variant)	Specific granule deficiency +1 more	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 1500041	NM_001805.4(CEBPE):c.547C>T (p.Leu183Phe)	CEBPE (L183F)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 1460731	NM_001805.4(CEBPE):c.105G>T (p.Glu35Asp)	CEBPE (E35D)	Single nucleotide variant (missense variant)	Specific granule deficiency	GUncertain significance
Select item 1457601	NM_001805.4(CEBPE):c.12_18dup (p.Tyr7fs)	CEBPE (Y7fs)	Duplication (frameshift variant)	Specific granule deficiency	GPathogenic

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