C5193034[trait identifier] AND "Greenwood Genetic Center Diagnostic La - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 591453	NM_004380.3(CREBBP):c.5344G>A (p.Ala1782Thr)	CREBBP (A1782T +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 1	GLikely pathogenic
Select item 1676444	NM_004380.3(CREBBP):c.5961_5981delinsGCAT (p.Met1988fs)	CREBBP (M1950fs +1 more)	Indel	Rubinstein-Taybi syndrome due to CREBBP mutations +1 more	GLikely pathogenic