"Fulgent Genetics, Fulgent Genetics"[submitter] AND "KIT"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 237252	NM_000222.3(KIT):c.200C>G (p.Thr67Ser)	KIT (T67S)	Single nucleotide variant (missense variant)	Malignant tumor of testis +7 more	GConflicting classifications of pathogenicity
Select item 458940	NM_000222.3(KIT):c.302A>G (p.His101Arg)	KIT (H101R)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 415788	NM_000222.3(KIT):c.531C>T (p.Arg177=)	KIT	Single nucleotide variant (synonymous variant)	Cutaneous mastocytosis +5 more	GLikely benign
Select item 237283	NM_000222.3(KIT):c.840G>C (p.Ala280=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +6 more	GLikely benign
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 458902	NM_000222.3(KIT):c.2057G>A (p.Arg686His)	KIT (R686H +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +5 more	GUncertain significance
Select item 409779	NM_000222.3(KIT):c.2104C>G (p.Leu702Val)	KIT (L702V +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 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 237264	NM_000222.3(KIT):c.2502G>A (p.Lys834=)	KIT	Single nucleotide variant (synonymous variant)	Germ cell tumor of testis +5 more	GLikely benign
Select item 576610	NM_000222.3(KIT):c.2836C>T (p.Arg946Ter)	KIT (R946* +5 more)	Single nucleotide variant (nonsense)	KIT-related disorder +7 more	GConflicting classifications of pathogenicity
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