"Biesecker Lab/Clinical Genomics Section, National Institutes of Healt - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 41602	NM_000222.3(KIT):c.484T>G (p.Phe162Val)	KIT (F162V)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 41603	NM_000222.3(KIT):c.776A>G (p.Tyr259Cys)	KIT (Y259C +1 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 41604	NM_000222.3(KIT):c.821C>T (p.Thr274Met)	KIT (T274M +1 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor, familial +6 more	GConflicting classifications of pathogenicity
Select item 41605	NM_000222.3(KIT):c.839C>T (p.Ala280Val)	KIT (A280V +1 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 41606	NM_000222.3(KIT):c.910A>G (p.Thr304Ala)	KIT (T304A +1 more)	Single nucleotide variant (missense variant)	Mastocytosis +3 more	GConflicting classifications of pathogenicity
Select item 41597	NM_000222.3(KIT):c.1199A>G (p.Asn400Ser)	KIT (N400S +1 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GBenign/Likely benign
Select item 41598	NM_000222.3(KIT):c.1403C>T (p.Pro468Leu)	KIT (P468L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 41599	NM_000222.3(KIT):c.1621A>C (p.Met541Leu)	KIT (M541L +3 more)	Single nucleotide variant (missense variant)	Mastocytosis +5 more	GBenign/Likely benign
Select item 41600	NM_000222.3(KIT):c.1694G>T (p.Gly565Val)	KIT (G565V +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +4 more	GConflicting classifications of pathogenicity
Select item 41601	NM_000222.3(KIT):c.2263G>A (p.Ala755Thr)	KIT (A755T +5 more)	Single nucleotide variant (missense variant)	Mastocytosis +4 more	GConflicting classifications of pathogenicity