"Fulgent Genetics, Fulgent Genetics"[submitter] AND "EP300"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 12

	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)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 1350847	NM_001429.4(EP300):c.454G>A (p.Gly152Ser)	EP300 (G152S)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +5 more	GConflicting classifications of pathogenicity
Select item 134043	NM_001429.4(EP300):c.631G>A (p.Gly211Ser)	EP300 (G211S)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +6 more	GBenign
Select item 1049476	NM_001429.4(EP300):c.695G>C (p.Gly232Ala)	EP300 (G232A)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 2 +4 more	GConflicting classifications of pathogenicity
Select item 134065	NM_001429.4(EP300):c.1519A>G (p.Ser507Gly)	EP300 (S507G)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +5 more	GBenign/Likely benign
Select item 977155	NM_001429.4(EP300):c.1781C>T (p.Thr594Met)	EP300 (T594M)	Single nucleotide variant (missense variant)	EP300-related condition +5 more	GConflicting classifications of pathogenicity
Select item 1221123	NM_001429.4(EP300):c.2380-18T>C	EP300	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 93735	NM_001429.4(EP300):c.2499G>A (p.Ser833=)	EP300	Single nucleotide variant (synonymous variant)	Menke-Hennekam syndrome 2 +5 more	GBenign/Likely benign
Select item 134039	NM_001429.4(EP300):c.2773C>A (p.Pro925Thr)	EP300 (P925T +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +5 more	GBenign/Likely benign
Select item 595659	NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser)	EP300 (P1895S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 134049	NM_001429.4(EP300):c.6481A>G (p.Met2161Val)	EP300 (M2161V +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +6 more	GBenign/Likely benign
Select item 341828	NM_001429.4(EP300):c.6951G>A (p.Arg2317=)	EP300	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign