"Clinical Genomics Laboratory, Washington University in St. Louis"[sub - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236572	NM_001003694.2(BRPF1):c.491dup (p.His164fs)	BRPF1 (H164fs)	Duplication (frameshift variant +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic
Select item 2672220	NM_001003694.2(BRPF1):c.2545_2566dup (p.Ala856delinsGlyTer)	BRPF1	Duplication (nonsense +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic