C3714756[trait identifier] AND "Medical Genetics Lab, Policlinico S. O - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 548142	NM_003107.3(SOX4):c.198C>A (p.Phe66Leu)	SOX4 (F66L)	Single nucleotide variant (missense variant)	Intellectual disability, mild	GLikely pathogenic
Select item 279893	NM_005445.4(SMC3):c.1942A>G (p.Met648Val)	SMC3 (M648V)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GPathogenic/Likely pathogenic
Select item 590793	GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187)	GRM5, HIKESHI +36 more	Copy number loss	Intellectual disability	GPathogenic

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