"Laboratory of Medical Genetics, University of Torino"[submitter] AND - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802557	NM_001375524.1(TRRAP):c.3874C>A (p.Pro1292Thr)	TRRAP (P1292T)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GLikely pathogenic
Select item 973835	NM_001375524.1(TRRAP):c.5713A>G (p.Lys1905Glu)	TRRAP (K1880E +2 more)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism +1 more	GConflicting classifications of pathogenicity