C3810406[trait identifier] AND "Medical Cytogenetics and Molecular Gen - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 818221	NM_001080517.3(SETD5):c.960del (p.Lys320fs)	SETD5 (K222fs +1 more)	Deletion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 818222	NM_001080517.3(SETD5):c.1573_1574del (p.Leu525fs)	SETD5 (L427fs +1 more)	Deletion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic