C0575897[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523472	NM_004380.3(CREBBP):c.6185_6195del (p.Ile2062fs)	CREBBP (I2024fs +1 more)	Deletion (frameshift variant)	Spasticity +5 more	GLikely pathogenic
Select item 374025	NM_004380.3(CREBBP):c.3698G>A (p.Arg1233Lys)	CREBBP (R1233K +1 more)	Single nucleotide variant (missense variant)	Thumb deformity +2 more	GLikely pathogenic
Select item 374013	NM_001429.4(EP300):c.1619A>G (p.Gln540Arg)	EP300 (Q540R)	Single nucleotide variant (missense variant)	Facial grimacing +4 more	GLikely benign

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