C3150941[trait identifier] AND "Wessex Regional Genetics Laboratory, S - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137620	NM_001429.4(EP300):c.104_107del (p.Ser35fs)	EP300 (S35fs)	Microsatellite (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +5 more	GPathogenic/Likely pathogenic
Select item 827620	NM_001429.4(EP300):c.494_497del (p.Met165fs)	EP300 (M165fs)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 827621	NM_001429.4(EP300):c.1606_1610delinsTATGTTGAGCCATAACTGCATGTTGAGCCCA (p.Ala536_Ile537delinsTyrValGluProTer)	EP300	Indel (nonsense)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 827622	NM_001429.4(EP300):c.1957C>T (p.Gln653Ter)	EP300 (Q653*)	Single nucleotide variant (nonsense)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 827623	NM_001429.4(EP300):c.2251_2257del (p.Tyr751fs)	EP300 (Y751fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 827624	NM_001429.4(EP300):c.3367del (p.Met1124fs)	EP300 (M1098fs +1 more)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 827625	NM_001429.4(EP300):c.3438_3439del (p.Glu1147fs)	EP300 (E1121fs +1 more)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 378053	NM_001429.3(EP300):c.3857A>G	EP300 (N1286S +1 more)	Single nucleotide variant (missense variant)	EP300-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 827626	NM_001429.4(EP300):c.4173G>C (p.Arg1391Ser)	EP300 (R1365S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely pathogenic
Select item 827627	NM_001429.4(EP300):c.4390C>T (p.Gln1464Ter)	EP300 (Q1438* +1 more)	Single nucleotide variant (nonsense)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 253310	NM_001429.4(EP300):c.4954_4957dup (p.Cys1653fs)	EP300 (C1627fs +1 more)	Duplication (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 827628	NM_001429.4(EP300):c.5578_5584del (p.Gly1860fs)	EP300 (G1834fs +1 more)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 827629	NM_001429.4(EP300):c.5747dup (p.Pro1917fs)	EP300 (P1891fs +1 more)	Duplication (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 827630	NM_001429.4(EP300):c.6607C>G (p.Pro2203Ala)	EP300 (P2177A +1 more)	Single nucleotide variant (missense variant)	EP300-related disorder	GUncertain significance
Select item 341826	NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)	EP300 (Q2268del +1 more)	Deletion (inframe_deletion)	not provided +4 more	GBenign/Likely benign
Select item 827631	NM_001429.4(EP300):c.7244A>G (p.Ter2415Trp)	EP300	Single nucleotide variant (stop lost)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic