ClinVar for MedGen (Select 67436) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 592102	NM_000222.3(KIT):c.2872A>G (p.Asn958Asp)	KIT (N958D +5 more)	Single nucleotide variant (missense variant)	Systemic mast cell disease	GUncertain significance
Select item 376148	NM_000222.3(KIT):c.2459A>T (p.Asp820Val)	KIT (D820V +5 more)	Single nucleotide variant (missense variant)	Systemic mast cell disease	GLikely pathogenic