ClinVar for PubMed (Select 11380399) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134621	NM_000222.3(KIT):c.1588G>A (p.Val530Ile)	KIT (V530I +3 more)	Single nucleotide variant (missense variant)	KIT-related condition +5 more	GConflicting classifications of pathogenicity
Select item 13852	NM_000222.3(KIT):c.2447A>T (p.Asp816Val)	KIT (D816V +5 more)	Single nucleotide variant (missense variant)	Cutaneous mastocytosis +3 more	GConflicting classifications of pathogenicity