"3billion"[submitter] AND "SETD5"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444235	NM_001080517.3(SETD5):c.617G>A (p.Trp206Ter)	SETD5 (W108* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 2441815	NM_001080517.3(SETD5):c.2168T>A (p.Leu723Ter)	SETD5 (L625* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic/Likely pathogenic