ClinVar for Gene (Select 2033) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373489	NM_001429.4(EP300):c.4472C>T (p.Thr1491Ile)	EP300 (T1465I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372636	NM_001429.4(EP300):c.5830C>T (p.His1944Tyr)	EP300 (H1918Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372026	NM_001429.4(EP300):c.4840GATCCT[1] (p.1614DP[1])	EP300	Microsatellite	not provided	GUncertain significance
Select item 3371981	NM_001429.4(EP300):c.1219A>C (p.Thr407Pro)	EP300 (T407P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371703	NM_001429.4(EP300):c.2584C>G (p.Pro862Ala)	EP300 (P836A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370031	NM_001429.4(EP300):c.3560G>A (p.Arg1187His)	EP300 (R1161H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369843	NM_001429.4(EP300):c.4536_4559dup (p.Leu1520_Glu1521insLeuGluGluSerIleLysGluLeu)	EP300	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3369483	NM_001429.4(EP300):c.536C>T (p.Ala179Val)	EP300 (A179V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368569	NM_001429.4(EP300):c.6993G>C (p.Met2331Ile)	EP300 (M2305I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368179	NM_001429.4(EP300):c.6845A>G (p.Gln2282Arg)	EP300 (Q2256R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367910	NM_001429.4(EP300):c.4880G>A (p.Arg1627Gln)	EP300 (R1601Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367582	NM_001429.4(EP300):c.6767G>C (p.Ser2256Thr)	EP300 (S2230T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366946	NM_001429.4(EP300):c.5366GCT[1] (p.Cys1790del)	EP300 (C1764del +1 more)	Microsatellite (inframe_deletion)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GLikely pathogenic
Select item 3366060	NM_001429.4(EP300):c.5756C>A (p.Pro1919Gln)	EP300 (P1893Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365982	NM_001429.4(EP300):c.3685G>A (p.Glu1229Lys)	EP300 (E1203K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365973	NM_001429.4(EP300):c.6172C>T (p.Leu2058Phe)	EP300 (L2032F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365444	NM_001429.4(EP300):c.5123T>C (p.Leu1708Pro)	EP300 (L1682P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365124	NM_001429.4(EP300):c.4622C>T (p.Thr1541Ile)	EP300 (T1515I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364334	NM_001429.4(EP300):c.1181C>T (p.Ala394Val)	EP300 (A394V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364056	NM_001429.4(EP300):c.1879-4A>G	EP300	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3363543	NM_001429.4(EP300):c.3450A>T (p.Glu1150Asp)	EP300 (E1124D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363273	NM_001429.4(EP300):c.5227G>A (p.Val1743Ile)	EP300 (V1717I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362786	NM_001429.4(EP300):c.1921C>A (p.Gln641Lys)	EP300 (Q641K)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely pathogenic
Select item 3362718	NM_001429.4(EP300):c.2659A>G (p.Thr887Ala)	EP300 (T861A +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3362359	NM_001429.4(EP300):c.5586del (p.Gln1862fs)	EP300 (Q1836fs +1 more)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3361925	NM_001429.4(EP300):c.4789G>A (p.Val1597Met)	EP300 (V1571M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361855	NM_001429.4(EP300):c.6233C>T (p.Pro2078Leu)	EP300 (P2052L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361632	NM_001429.4(EP300):c.6385G>T (p.Ala2129Ser)	EP300 (A2103S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360889	NM_001429.4(EP300):c.5459A>G (p.His1820Arg)	EP300 (H1794R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360381	NM_001429.4(EP300):c.1514C>A (p.Pro505His)	EP300 (P505H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359494	NM_001429.4(EP300):c.4962G>C (p.Met1654Ile)	EP300 (M1628I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359417	NM_001429.4(EP300):c.638G>A (p.Gly213Glu)	EP300 (G213E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358659	NM_001429.4(EP300):c.189G>T (p.Gln63His)	EP300 (Q63H)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 3358560	NM_001429.4(EP300):c.1478A>G (p.Asn493Ser)	EP300 (N493S)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 3358383	NM_001429.4(EP300):c.190C>T (p.Leu64Phe)	EP300 (L64F)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 3358187	NM_001429.4(EP300):c.1532C>G (p.Ala511Gly)	EP300 (A511G)	Single nucleotide variant (missense variant)	EP300-related disorder	GLikely benign
Select item 3358134	NM_001429.4(EP300):c.706T>C (p.Leu236=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3358086	NM_001429.4(EP300):c.5717C>T (p.Thr1906Ile)	EP300 (T1880I +1 more)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 3358076	NM_001429.4(EP300):c.5016A>G (p.Glu1672=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3358071	NM_001429.4(EP300):c.366C>G (p.Val122=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3358022	NM_001429.4(EP300):c.5674G>A (p.Ala1892Thr)	EP300 (A1866T +1 more)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 3357939	NM_001429.4(EP300):c.1969A>G (p.Met657Val)	EP300 (M657V)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 3357924	NM_001429.4(EP300):c.6817G>A (p.Val2273Ile)	EP300 (V2247I +1 more)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 3357894	NM_001429.4(EP300):c.6813C>T (p.Ser2271=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3357831	NM_001429.4(EP300):c.7233A>G (p.Leu2411=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3357823	NM_001429.4(EP300):c.5997A>G (p.Gly1999=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3357757	NM_001429.4(EP300):c.965G>C (p.Gly322Ala)	EP300 (G322A)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 3357755	NM_001429.4(EP300):c.2778C>T (p.Thr926=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3357679	NM_001429.4(EP300):c.424G>A (p.Gly142Arg)	EP300 (G142R)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 3357676	NM_001429.4(EP300):c.5859A>G (p.Gln1953=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3357610	NM_001429.4(EP300):c.5510G>T (p.Arg1837Leu)	EP300 (R1811L +1 more)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 3357578	NM_001429.4(EP300):c.5538C>T (p.Gly1846=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3357475	NM_001429.4(EP300):c.957T>A (p.Val319=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3357430	NM_001429.4(EP300):c.1332G>A (p.Gly444=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3357397	NM_001429.4(EP300):c.*4C>T	EP300	Single nucleotide variant (3 prime UTR variant)	EP300-related disorder	GLikely benign
Select item 3357325	NM_001429.4(EP300):c.7003C>T (p.Pro2335Ser)	EP300 (P2309S +1 more)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 3357166	NM_001429.4(EP300):c.1458G>A (p.Val486=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3357128	NM_001429.4(EP300):c.3054G>A (p.Glu1018=)	EP300, LOC126863158	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3357048	NM_001429.4(EP300):c.4236A>G (p.Ala1412=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3356973	NM_001429.4(EP300):c.4423G>A (p.Val1475Ile)	EP300 (V1449I +1 more)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 3356958	NM_001429.4(EP300):c.1080A>G (p.Glu360=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3356846	NM_001429.4(EP300):c.1623C>T (p.Asn541=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3356833	NM_001429.4(EP300):c.4026-8T>C	EP300	Single nucleotide variant (intron variant)	EP300-related disorder	GLikely benign
Select item 3356822	NM_001429.4(EP300):c.3948T>G (p.Pro1316=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3356770	NM_001429.4(EP300):c.899C>T (p.Pro300Leu)	EP300 (P300L)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 3356708	NM_001429.4(EP300):c.4902A>G (p.Ala1634=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3356706	NM_001429.4(EP300):c.6007C>A (p.Pro2003Thr)	EP300 (P1977T +1 more)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 3356655	NM_001429.4(EP300):c.6006G>A (p.Gln2002=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3356603	NM_001429.4(EP300):c.291T>C (p.Val97=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3356586	NM_001429.4(EP300):c.3174G>A (p.Leu1058=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3356525	NM_001429.4(EP300):c.5430G>A (p.Lys1810=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3356490	NM_001429.4(EP300):c.2736G>A (p.Gln912=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3356349	NM_001429.4(EP300):c.1349C>T (p.Ala450Val)	EP300 (A450V)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 3356340	NM_001429.4(EP300):c.3143-4T>A	EP300	Single nucleotide variant (intron variant)	EP300-related disorder	GLikely benign
Select item 3356197	NM_001429.4(EP300):c.5184C>T (p.Gly1728=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3356130	NM_001429.4(EP300):c.6C>T (p.Ala2=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3356086	NM_001429.4(EP300):c.2833G>A (p.Val945Ile)	EP300, LOC126863158 (V919I +1 more)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 3356040	NM_001429.4(EP300):c.6759A>G (p.Ala2253=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3355926	NM_001429.4(EP300):c.7221A>T (p.Ser2407=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3355839	NM_001429.4(EP300):c.1633A>G (p.Ser545Gly)	EP300 (S545G)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 3355837	NM_001429.4(EP300):c.3738A>G (p.Glu1246=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3355729	NM_001429.4(EP300):c.6228C>G (p.Ala2076=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3355638	NM_001429.4(EP300):c.6302C>T (p.Pro2101Leu)	EP300 (P2075L +1 more)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 3355568	NM_001429.4(EP300):c.6507C>T (p.Asn2169=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3355565	NM_001429.4(EP300):c.5691C>G (p.Ser1897=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3355457	NM_001429.4(EP300):c.6185G>C (p.Ser2062Thr)	EP300 (S2036T +1 more)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 3355437	NM_001429.4(EP300):c.1041T>C (p.His347=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3355355	NM_001429.4(EP300):c.1581T>C (p.Leu527=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3355329	NM_001429.4(EP300):c.2277C>T (p.Ser759=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3355273	NM_001429.4(EP300):c.345A>G (p.Leu115=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3355245	NM_001429.4(EP300):c.1206C>T (p.His402=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3355234	NM_001429.4(EP300):c.65C>T (p.Ala22Val)	EP300, LOC130067530 (A22V)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 3355178	NM_001429.4(EP300):c.2406G>A (p.Pro802=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3355097	NM_001429.4(EP300):c.2512C>T (p.Arg838Cys)	EP300 (R812C +1 more)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 3354995	NM_001429.4(EP300):c.6288T>G (p.Asn2096Lys)	EP300 (N2070K +1 more)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 3354970	NM_001429.4(EP300):c.3717G>A (p.Leu1239=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3354948	NM_001429.4(EP300):c.7193A>T (p.Asp2398Val)	EP300 (D2372V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3354822	NM_001429.4(EP300):c.15G>A (p.Val5=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3354806	NM_001429.4(EP300):c.7119T>G (p.Leu2373=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign
Select item 3354753	NM_001429.4(EP300):c.4656T>C (p.Asn1552=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder	GLikely benign

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