C0729582[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2412742	NM_006662.3(SRCAP):c.7364del (p.Pro2455fs)	SRCAP (P2455fs)	Deletion (frameshift variant)	Floating-Harbor syndrome	GLikely pathogenic
Select item 635038	NM_006662.3(SRCAP):c.9044C>T (p.Pro3015Leu)	SRCAP (P3015L)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance