"ITMI"[submitter] AND "KIT"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134626	NM_000222.3(KIT):c.101C>A (p.Pro34Gln)	KIT (P34Q)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 134628	NM_000222.3(KIT):c.503C>T (p.Ala168Val)	KIT (A168V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 134629	NM_000222.3(KIT):c.1195G>A (p.Val399Ile)	KIT (V399I +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 134631	NM_000222.3(KIT):c.1241A>G (p.Glu414Gly)	KIT (E414G +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134630	NM_000222.3(KIT):c.1263_1265dup (p.Val422dup)	KIT	Duplication (inframe_insertion)	Gastrointestinal stromal tumor	GUncertain significance
Select item 134621	NM_000222.3(KIT):c.1588G>A (p.Val530Ile)	KIT (V530I +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 134622	NM_000222.3(KIT):c.1711A>G (p.Ile571Val)	KIT (I571V +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 134623	NM_000222.3(KIT):c.2358_2359delinsTT (p.Lys786_Asn787delinsAsnTyr)	KIT	Indel (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 134624	NM_000222.3(KIT):c.2361T>C (p.Asn787=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +2 more	GBenign/Likely benign
Select item 134625	NM_000222.3(KIT):c.2554G>A (p.Val852Ile)	KIT (V852I +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 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