"TRRAP-related neurodevelopmental disorder"[Disease/phenotype] AND "Il - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 989345	NM_001375524.1(TRRAP):c.1340G>A (p.Arg447Gln)	TRRAP (R447Q)	Single nucleotide variant (missense variant)	TRRAP-related neurodevelopmental disorder +1 more	GUncertain significance
Select item 1328554	NM_001375524.1(TRRAP):c.3093T>G (p.Ile1031Met)	TRRAP (I1031M)	Single nucleotide variant (missense variant)	TRRAP-related neurodevelopmental disorder	GLikely pathogenic
Select item 989346	NM_001375524.1(TRRAP):c.7558T>C (p.Cys2520Arg)	TRRAP (C2495R +2 more)	Single nucleotide variant (missense variant)	TRRAP-related neurodevelopmental disorder	GUncertain significance

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