C3150941[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 11

	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)	Neurodevelopmental delay +5 more	GPathogenic/Likely pathogenic
Select item 1033839	NM_001429.4(EP300):c.1448A>T (p.Gln483Leu)	EP300 (Q483L)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 1030396	NM_001429.4(EP300):c.2225del (p.Pro742fs)	EP300 (P742fs +1 more)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 987884	NM_001429.4(EP300):c.2660C>T (p.Thr887Ile)	EP300 (T861I +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic/Likely pathogenic
Select item 561006	NM_001429.4(EP300):c.3750C>G (p.Cys1250Trp)	EP300 (C1250W +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 183678	NM_001429.4(EP300):c.4933C>T (p.Arg1645Ter)	EP300 (R1645* +1 more)	Single nucleotide variant (nonsense)	EP300-related disorders +1 more	GPathogenic
Select item 689757	NM_001429.4(EP300):c.5492G>C (p.Arg1831Thr)	EP300 (R1831T +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely pathogenic
Select item 1033841	NM_001429.4(EP300):c.5840_5848del (p.Ile1947_Gln1949del)	EP300	Deletion (inframe_deletion)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 1033840	NM_001429.4(EP300):c.5839A>G (p.Ile1947Val)	EP300 (I1947V +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 1030397	NM_001429.4(EP300):c.6350C>T (p.Thr2117Ile)	EP300 (T2091I +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 1033842	NM_001429.4(EP300):c.6815C>T (p.Pro2272Leu)	EP300 (P2272L +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance