EP400[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 144761	GRCh38/hg38 12q24.33(chr12:131650542-133191400)x1	ANKLE2, CHFR +122 more	Copy number loss	See cases	GPathogenic
Select item 3041575	NM_015409.5(EP400):c.-7G>A	EP400	Single nucleotide variant (5 prime UTR variant)	EP400-related disorder	GBenign
Select item 3057873	NM_015409.5(EP400):c.-5T>C	EP400	Single nucleotide variant (5 prime UTR variant)	EP400-related disorder	GLikely benign
Select item 3050241	NM_015409.5(EP400):c.12C>A (p.Gly4=)	EP400	Single nucleotide variant (synonymous variant)	EP400-related disorder	GLikely benign
Select item 3033103	NM_015409.5(EP400):c.57C>A (p.Ala19=)	EP400	Single nucleotide variant (synonymous variant)	EP400-related disorder	GLikely benign
Select item 2455521	NM_015409.5(EP400):c.59G>T (p.Cys20Phe)	EP400 (C20F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364764	NM_015409.5(EP400):c.70G>A (p.Glu24Lys)	EP400 (E24K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058078	NM_015409.5(EP400):c.90C>G (p.Ala30=)	EP400	Single nucleotide variant (synonymous variant)	EP400-related disorder	GLikely benign
Select item 3034027	NM_015409.5(EP400):c.92A>C (p.His31Pro)	EP400 (H31P)	Single nucleotide variant (missense variant)	EP400-related disorder	GBenign
Select item 3033301	NM_015409.5(EP400):c.102A>C (p.Pro34=)	EP400	Single nucleotide variant (synonymous variant)	EP400-related disorder	GLikely benign
Select item 3046461	NM_015409.5(EP400):c.123C>T (p.Pro41=)	EP400	Single nucleotide variant (synonymous variant)	EP400-related disorder	GLikely benign
Select item 3275632	NM_015409.5(EP400):c.127G>A (p.Ala43Thr)	EP400 (A43T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2631342	NM_015409.5(EP400):c.133T>C (p.Ser45Pro)	EP400 (S45P)	Single nucleotide variant (missense variant)	EP400-related disorder	GUncertain significance
Select item 2643614	NM_015409.5(EP400):c.147G>A (p.Ser49=)	EP400	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3089296	NM_015409.5(EP400):c.188A>G (p.Asn63Ser)	EP400 (N63S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 715045	NM_015409.5(EP400):c.234C>T (p.Ser78=)	EP400	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2643615	NM_015409.5(EP400):c.249C>G (p.Val83=)	EP400	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790369	NM_015409.5(EP400):c.257A>G (p.Asn86Ser)	EP400 (N86S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2614407	NM_015409.5(EP400):c.269C>T (p.Thr90Ile)	EP400 (T90I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089303	NM_015409.5(EP400):c.284C>T (p.Pro95Leu)	EP400 (P95L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089307	NM_015409.5(EP400):c.319A>G (p.Ser107Gly)	EP400 (S107G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747135	NM_015409.5(EP400):c.372G>A (p.Thr124=)	EP400	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3089311	NM_015409.5(EP400):c.422C>T (p.Pro141Leu)	EP400 (P141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 757962	NM_015409.5(EP400):c.438C>T (p.Ala146=)	EP400	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3089313	NM_015409.5(EP400):c.452G>A (p.Arg151His)	EP400 (R151H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643616	NM_015409.5(EP400):c.460G>A (p.Ala154Thr)	EP400 (A154T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2592670	NM_015409.5(EP400):c.491G>A (p.Ser164Asn)	EP400 (S164N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061714	NM_015409.5(EP400):c.494G>T (p.Ser165Ile)	EP400 (S165I)	Single nucleotide variant (missense variant)	EP400-related disorder	GUncertain significance
Select item 3275639	NM_015409.5(EP400):c.581A>G (p.Asp194Gly)	EP400 (D194G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 754735	NM_015409.5(EP400):c.588A>G (p.Ser196=)	EP400	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736459	NM_015409.5(EP400):c.603C>T (p.Ile201=)	EP400	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2232584	NM_015409.5(EP400):c.604G>A (p.Ala202Thr)	EP400 (A202T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089328	NM_015409.5(EP400):c.710T>G (p.Leu237Arg)	EP400 (L237R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768600	NM_015409.5(EP400):c.732C>T (p.Ala244=)	EP400	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3089329	NM_015409.5(EP400):c.733G>A (p.Ala245Thr)	EP400 (A245T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288028	NM_015409.5(EP400):c.844G>A (p.Val282Met)	EP400 (V282M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523152	NM_015409.5(EP400):c.871C>T (p.Pro291Ser)	EP400 (P291S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 781983	NM_015409.5(EP400):c.891A>G (p.Thr297=)	EP400	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3275637	NM_015409.5(EP400):c.893C>G (p.Pro298Arg)	EP400 (P298R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089346	NM_015409.5(EP400):c.919G>C (p.Gly307Arg)	EP400 (G307R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404486	NM_015409.5(EP400):c.922G>A (p.Ala308Thr)	EP400 (A308T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089349	NM_015409.5(EP400):c.941C>T (p.Thr314Met)	EP400 (T314M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089350	NM_015409.5(EP400):c.952C>T (p.Pro318Ser)	EP400 (P318S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769837	NM_015409.5(EP400):c.970A>G (p.Arg324Gly)	EP400 (R324G)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1710362	NM_015409.5(EP400):c.1120C>T (p.Gln374Ter)	EP400 (Q374*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2590668	NM_015409.5(EP400):c.1130A>G (p.Gln377Arg)	EP400 (Q377R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334674	NM_015409.5(EP400):c.1294G>A (p.Glu432Lys)	EP400 (E432K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054001	NM_015409.5(EP400):c.1320G>A (p.Glu440=)	EP400	Single nucleotide variant (synonymous variant)	EP400-related disorder	GLikely benign
Select item 3054659	NM_015409.5(EP400):c.1323T>C (p.Val441=)	EP400	Single nucleotide variant (synonymous variant)	EP400-related disorder	GLikely benign
Select item 3044439	NM_015409.5(EP400):c.1332C>T (p.Asp444=)	EP400	Single nucleotide variant (synonymous variant)	EP400-related disorder	GLikely benign
Select item 148210	GRCh38/hg38 12q24.33(chr12:131973151-132102145)x1	EP400, LOC124849291 +5 more	Copy number loss	See cases	GLikely benign
Select item 3089294	NM_015409.5(EP400):c.1348G>A (p.Ala450Thr)	EP400 (A450T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2643617	NM_015409.5(EP400):c.1371C>T (p.Ala457=)	EP400	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749443	NM_015409.5(EP400):c.1389G>A (p.Thr463=)	EP400	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787939	NM_015409.5(EP400):c.1435+8G>A	EP400	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3053712	NM_015409.5(EP400):c.1436-8T>C	EP400	Single nucleotide variant (intron variant)	EP400-related disorder	GLikely benign
Select item 2356170	NM_015409.5(EP400):c.1453C>T (p.Arg485Cys)	EP400 (R485C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747136	NM_015409.5(EP400):c.1455C>T (p.Arg485=)	EP400	Single nucleotide variant (synonymous variant)	EP400-related disorder +1 more	GBenign/Likely benign
Select item 3275626	NM_015409.5(EP400):c.1469A>T (p.His490Leu)	EP400 (H490L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465159	NM_015409.5(EP400):c.1474G>A (p.Gly492Arg)	EP400 (G492R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291380	NM_015409.5(EP400):c.1532C>T (p.Pro511Leu)	EP400 (P511L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2342328	NM_015409.5(EP400):c.1537G>A (p.Ala513Thr)	EP400 (A513T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035422	NM_015409.5(EP400):c.1539A>G (p.Ala513=)	EP400	Single nucleotide variant (synonymous variant)	EP400-related disorder	GLikely benign
Select item 3275634	NM_015409.5(EP400):c.1552C>T (p.Pro518Ser)	EP400 (P518S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089295	NM_015409.5(EP400):c.1559C>T (p.Thr520Met)	EP400 (T520M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226767	NM_015409.5(EP400):c.1562C>T (p.Pro521Leu)	EP400 (P521L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275610	NM_015409.5(EP400):c.1570G>A (p.Ala524Thr)	EP400 (A524T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3275627	NM_015409.5(EP400):c.1571C>T (p.Ala524Val)	EP400 (A524V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741312	NM_015409.5(EP400):c.1572G>A (p.Ala524=)	EP400	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764794	NM_015409.5(EP400):c.1683G>A (p.Leu561=)	EP400	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2527790	NM_015409.5(EP400):c.1685C>T (p.Pro562Leu)	EP400 (P562L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258172	NM_015409.5(EP400):c.1693G>A (p.Gly565Ser)	EP400 (G565S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2632337	NM_015409.5(EP400):c.1718C>T (p.Ser573Phe)	EP400 (S573F)	Single nucleotide variant (missense variant)	EP400-related disorder	GUncertain significance
Select item 774823	NM_015409.5(EP400):c.1721C>T (p.Ala574Val)	EP400 (A574V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 774824	NM_015409.5(EP400):c.1741C>A (p.Pro581Thr)	EP400 (P581T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 774825	NM_015409.5(EP400):c.1742C>T (p.Pro581Leu)	EP400 (P581L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776780	NM_015409.5(EP400):c.1779G>A (p.Pro593=)	EP400	Single nucleotide variant (synonymous variant)	EP400-related disorder +1 more	GBenign/Likely benign
Select item 2222436	NM_015409.5(EP400):c.1817C>T (p.Pro606Leu)	EP400 (P606L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275615	NM_015409.5(EP400):c.1847C>T (p.Ser616Leu)	EP400 (S616L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089297	NM_015409.5(EP400):c.1897G>T (p.Val633Leu)	EP400 (V633L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209596	NM_015409.5(EP400):c.1916C>T (p.Ser639Phe)	EP400 (S639F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1678374	NM_015409.5(EP400):c.1967_1976del (p.Pro656fs)	EP400 (P656fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2301077	NM_015409.5(EP400):c.1964C>T (p.Ala655Val)	EP400 (A655V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463628	NM_015409.5(EP400):c.1978C>T (p.Arg660Trp)	EP400 (R660W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 996262	NM_015409.5(EP400):c.1990A>G (p.Thr664Ala)	EP400 (T664A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039738	NM_015409.5(EP400):c.2006C>A (p.Ser669Tyr)	EP400 (S669Y)	Single nucleotide variant (missense variant)	EP400-related disorder	GLikely benign
Select item 3051473	NM_015409.5(EP400):c.2013G>A (p.Ala671=)	EP400	Single nucleotide variant (synonymous variant)	EP400-related disorder	GLikely benign
Select item 3089298	NM_015409.5(EP400):c.2014C>T (p.Pro672Ser)	EP400 (P672S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043343	NM_015409.5(EP400):c.2028C>T (p.Ser676=)	EP400	Single nucleotide variant (synonymous variant)	EP400-related disorder	GLikely benign
Select item 2464094	NM_015409.5(EP400):c.2057C>T (p.Ser686Phe)	EP400 (S686F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286102	NM_015409.5(EP400):c.2101C>G (p.Pro701Ala)	EP400 (P701A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249055	NM_015409.5(EP400):c.2105T>G (p.Val702Gly)	EP400 (V702G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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