C0080024[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 857769	NM_000222.3(KIT):c.78A>C (p.Gln26His)	KIT (Q26H)	Single nucleotide variant (missense variant)	Mastocytosis +2 more	GUncertain significance
Select item 348954	NM_000222.3(KIT):c.301C>T (p.His101Tyr)	KIT (H101Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 409770	NM_000222.3(KIT):c.1139C>T (p.Thr380Met)	KIT (T380M +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 237245	NM_000222.3(KIT):c.1553C>T (p.Pro518Leu)	KIT (P518L +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +6 more	GUncertain significance
Select item 409741	NM_000222.3(KIT):c.1618G>C (p.Val540Leu)	KIT (V540L +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 more	GUncertain significance
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 1029723	NM_000222.3(KIT):c.2024A>G (p.Tyr675Cys)	KIT (Y671C +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 409730	NM_000222.3(KIT):c.2294A>G (p.Asp765Gly)	KIT (D765G +5 more)	Single nucleotide variant (missense variant)	Mastocytosis +4 more	GUncertain significance
Select item 409783	NM_000222.3(KIT):c.2863G>T (p.Val955Leu)	KIT (V955L +5 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +5 more	GUncertain significance
Select item 134627	NM_000222.3(KIT):c.2866C>T (p.Arg956Trp)	KIT (R956W +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 237271	NM_000222.3(KIT):c.2881G>A (p.Gly961Ser)	KIT (G961S +5 more)	Single nucleotide variant (missense variant)	Mastocytosis +5 more	GUncertain significance
Select item 409774	NM_000222.3(KIT):c.2887A>G (p.Thr963Ala)	KIT (T963A +5 more)	Single nucleotide variant (missense variant)	Mastocytosis +5 more	GUncertain significance
Select item 458936	NM_000222.3(KIT):c.2900C>G (p.Ser967Cys)	KIT (S967C +5 more)	Single nucleotide variant (missense variant)	Malignant tumor of testis +4 more	GUncertain significance
Select item 348956	NM_000222.3(KIT):c.2923G>C (p.Asp975His)	KIT (D975H +5 more)	Single nucleotide variant (missense variant)	Piebaldism +2 more	GUncertain significance