C4225259[trait identifier] AND "Génétique des Maladies du Développemen - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1065618	NM_004958.4(MTOR):c.6227G>A (p.Arg2076Gln)	MTOR (R1660Q +1 more)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GLikely pathogenic
Select item 217823	NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys)	MTOR (E1799K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GPathogenic