List of variants in gene EP300 reported as likely pathogenic for developmental disorder of mental health

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 39

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HGVS	dbSNP	gnomAD frequency
NM_001429.3(EP300):c.3857A>G	rs1555910821
NM_001429.4(EP300):c.1282+1G>A
NM_001429.4(EP300):c.1709_1710del (p.Gln570fs)
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter)	rs137853038
NM_001429.4(EP300):c.1878+1G>A	rs2058974109
NM_001429.4(EP300):c.2064dup (p.Pro689fs)	rs1601617062
NM_001429.4(EP300):c.2132-1G>A	rs2145734002
NM_001429.4(EP300):c.2461_2470del (p.Gln821fs)
NM_001429.4(EP300):c.2660C>T (p.Thr887Ile)	rs953108559
NM_001429.4(EP300):c.3573T>A (p.Tyr1191Ter)	rs565779970
NM_001429.4(EP300):c.3589A>T (p.Arg1197Trp)	rs1340981566
NM_001429.4(EP300):c.3671+1G>A	rs2059103511
NM_001429.4(EP300):c.3671+5G>C
NM_001429.4(EP300):c.3729-1G>T	rs2145756375
NM_001429.4(EP300):c.3731TTG[1] (p.Val1245del)	rs1555910602
NM_001429.4(EP300):c.3733del (p.Val1245fs)
NM_001429.4(EP300):c.3749G>A (p.Cys1250Tyr)	rs1601629319
NM_001429.4(EP300):c.4173G>C (p.Arg1391Ser)	rs1464734494
NM_001429.4(EP300):c.4232C>T (p.Thr1411Ile)	rs1601633708
NM_001429.4(EP300):c.4287-1G>T
NM_001429.4(EP300):c.4318C>A (p.Pro1440Thr)
NM_001429.4(EP300):c.4371_4376del (p.Ile1457_Lys1459delinsMet)	rs1555911316
NM_001429.4(EP300):c.4452+5G>T	rs1555911334
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu)	rs1555911573
NM_001429.4(EP300):c.4692dup (p.Arg1565Ter)	rs1601636935
NM_001429.4(EP300):c.5245C>T (p.Arg1749Trp)	rs2145515250
NM_001429.4(EP300):c.5486G>C (p.Arg1829Pro)	rs2145516079
NM_001429.4(EP300):c.5492G>C (p.Arg1831Thr)	rs1601639958
NM_001429.4(EP300):c.5493G>C (p.Arg1831Ser)	rs1379274045
NM_001429.4(EP300):c.5894dup (p.Met1965fs)
NM_001429.4(EP300):c.5897del (p.Gly1966fs)
NM_001429.4(EP300):c.598C>T (p.Arg200Ter)	rs769721953
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser)	rs1210404526
NM_001429.4(EP300):c.6015_6028del (p.Gln2005fs)	rs2059210417
NM_001429.4(EP300):c.6121_6124del (p.Leu2041fs)	rs2059211409
NM_001429.4(EP300):c.6196C>T (p.Gln2066Ter)	rs1555912238
NM_001429.4(EP300):c.6454C>T (p.Gln2152Ter)
NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del)	rs875989807
NM_001429.4(EP300):c.6691del (p.Met2231fs)	rs1601641819

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