C4310617[trait identifier] AND "3billion"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333613	NM_001003694.2(BRPF1):c.1433G>A (p.Trp478Ter)	BRPF1 (W478*)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GPathogenic/Likely pathogenic
Select item 1333633	NM_001003694.2(BRPF1):c.1667T>A (p.Leu556Ter)	BRPF1 (L556*)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder with dysmorphic facies and ptosis	GLikely pathogenic