ClinVar for MedGen (Select 3170) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1388960	NM_001429.4(EP300):c.7153C>T (p.Leu2385Phe)	EP300 (L2385F +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GUncertain significance
Select item 1327070	NM_004655.4(AXIN2):c.1060-2A>G	AXIN2	Single nucleotide variant (splice acceptor variant)	Colorectal carcinoma +1 more	GLikely pathogenic
Select item 947782	NM_001429.4(EP300):c.832del (p.Thr278fs)	EP300 (T278fs)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GPathogenic
Select item 800269	NM_001429.4(EP300):c.6311C>G (p.Pro2104Arg)	EP300 (P2078R +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more	GLikely benign
Select item 727344	NM_001429.4(EP300):c.5598G>A (p.Pro1866=)	EP300	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 655763	NC_000022.11:g.(?_41154975)_(41164150_?)del	EP300	Deletion	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more	GPathogenic
Select item 574856	NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter)	EP300 (R1529* +1 more)	Single nucleotide variant (nonsense)	Colorectal carcinoma +2 more	GPathogenic

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