"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2921215	NM_001080517.3(SETD5):c.3197T>G (p.Val1066Gly)	SETD5 (V968G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 1513005	NM_001080517.3(SETD5):c.3953C>G (p.Pro1318Arg)	SETD5 (P1318R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +1 more	GUncertain significance