"Ambry Genetics"[submitter] AND "MATK"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2548868	NM_139355.3(MATK):c.1519C>T (p.Pro507Ser)	MATK (P466S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247697	NM_139355.3(MATK):c.1492G>A (p.Gly498Ser)	MATK (G457S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618473	NM_139355.3(MATK):c.1487C>A (p.Ala496Asp)	MATK (A497D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391627	NM_139355.3(MATK):c.1396G>A (p.Ala466Thr)	MATK (A467T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123941	NM_139355.3(MATK):c.1363G>A (p.Val455Ile)	MATK (V456I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380590	NM_139355.3(MATK):c.1195G>A (p.Gly399Arg)	MATK (G358R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328030	NM_139355.3(MATK):c.1162G>A (p.Val388Ile)	MATK (V389I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548869	NM_139355.3(MATK):c.956G>A (p.Arg319Gln)	MATK (R320Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605919	NM_139355.3(MATK):c.943T>C (p.Phe315Leu)	MATK (F316L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614360	NM_139355.3(MATK):c.919G>A (p.Val307Met)	MATK (V266M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335452	NM_139355.3(MATK):c.884T>A (p.Ile295Asn)	MATK (I295N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336135	NM_139355.3(MATK):c.706A>T (p.Thr236Ser)	MATK (T237S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123946	NM_139355.3(MATK):c.634C>T (p.Arg212Trp)	MATK (R171W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374480	NM_139355.3(MATK):c.559T>A (p.Cys187Ser)	MATK (C187S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611947	NM_139355.3(MATK):c.523G>A (p.Asp175Asn)	MATK (D175N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217018	NM_139355.3(MATK):c.521G>A (p.Arg174His)	MATK (R133H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268536	NM_139355.3(MATK):c.500T>C (p.Ile167Thr)	MATK (I167T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533814	NM_139355.3(MATK):c.496G>A (p.Val166Ile)	MATK (V125I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266010	NM_139355.3(MATK):c.470T>A (p.Val157Asp)	MATK (V158D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123945	NM_139355.3(MATK):c.457C>G (p.Pro153Ala)	MATK (P153A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123944	NM_139355.3(MATK):c.451C>T (p.Arg151Cys)	MATK (R151C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123943	NM_139355.3(MATK):c.337G>A (p.Ala113Thr)	MATK (A114T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2239768	NM_139355.3(MATK):c.287A>G (p.Gln96Arg)	MATK (Q96R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383704	NM_139355.3(MATK):c.208C>T (p.Arg70Cys)	MATK (R29C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373785	NM_139355.3(MATK):c.131C>T (p.Thr44Met)	LOC121852973, MATK (T3M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549931	NM_139355.3(MATK):c.107C>G (p.Pro36Arg)	LOC121852973, MATK (P37R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123940	NM_139355.3(MATK):c.106C>A (p.Pro36Thr)	MATK, LOC121852973 (P37T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 27