"Ambry Genetics"[submitter] AND "MAST1"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2111472	NM_014975.3(MAST1):c.112A>G (p.Ile38Val)	MAST1 (I38V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2230753	NM_014975.3(MAST1):c.150C>A (p.His50Gln)	LOC130063672, MAST1 (H50Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481787	NM_014975.3(MAST1):c.430A>C (p.Thr144Pro)	MAST1 (T144P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 599358	NM_014975.3(MAST1):c.580GAG[1] (p.Glu195del)	LOC117125587, MAST1 (E195del)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2519544	NM_014975.3(MAST1):c.711C>A (p.Asp237Glu)	LOC117125587, MAST1 (D237E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3123770	NM_014975.3(MAST1):c.844A>G (p.Ile282Val)	MAST1 (I282V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362016	NM_014975.3(MAST1):c.889G>A (p.Glu297Lys)	MAST1 (E297K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3123760	NM_014975.3(MAST1):c.1103C>G (p.Pro368Arg)	MAST1 (P368R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265814	NM_014975.3(MAST1):c.1183G>A (p.Asp395Asn)	MAST1 (D395N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492691	NM_014975.3(MAST1):c.1333C>T (p.Arg445Cys)	MAST1 (R445C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985800	NM_014975.3(MAST1):c.1577T>C (p.Leu526Pro)	MAST1 (L526P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2191501	NM_014975.3(MAST1):c.1891G>A (p.Val631Ile)	MAST1 (V631I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2212696	NM_014975.3(MAST1):c.1912G>A (p.Ala638Thr)	MAST1 (A638T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3123761	NM_014975.3(MAST1):c.2095G>A (p.Val699Met)	MAST1 (V699M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471616	NM_014975.3(MAST1):c.2270G>A (p.Gly757Asp)	LOC112543452, MAST1 (G757D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496146	NM_014975.3(MAST1):c.2285G>T (p.Arg762Leu)	LOC112543452, MAST1 (R762L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327978	NM_014975.3(MAST1):c.2302G>A (p.Gly768Arg)	LOC112543452, MAST1 (G768R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312990	NM_014975.3(MAST1):c.2360A>G (p.Glu787Gly)	LOC112543452, MAST1 (E787G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230582	NM_014975.3(MAST1):c.2375_2376insTGCTTT (p.Pro791_Leu792insPheAla)	LOC112543452, MAST1	Insertion (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 1985675	NM_014975.3(MAST1):c.2371C>A (p.Pro791Thr)	LOC112543452, MAST1 (P791T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2408753	NM_014975.3(MAST1):c.2410C>T (p.Pro804Ser)	LOC112543452, MAST1 (P804S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2076400	NM_014975.3(MAST1):c.2492G>A (p.Gly831Glu)	LOC112543452, MAST1 (G831E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1976620	NM_014975.3(MAST1):c.2502T>A (p.Asp834Glu)	LOC112543452, MAST1 (D834E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2528399	NM_014975.3(MAST1):c.2507G>A (p.Arg836Gln)	LOC112543452, MAST1 (R836Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3123763	NM_014975.3(MAST1):c.2527C>G (p.Gln843Glu)	MAST1 (Q843E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604671	NM_014975.3(MAST1):c.2540C>A (p.Thr847Asn)	MAST1 (T847N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238575	NM_014975.3(MAST1):c.2572C>T (p.Arg858Cys)	MAST1 (R858C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1961013	NM_014975.3(MAST1):c.2573G>A (p.Arg858His)	MAST1 (R858H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3123764	NM_014975.3(MAST1):c.2801C>T (p.Ala934Val)	MAST1 (A934V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623290	NM_014975.3(MAST1):c.2851T>C (p.Ser951Pro)	MAST1 (S951P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623291	NM_014975.3(MAST1):c.2852C>T (p.Ser951Phe)	MAST1 (S951F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3123765	NM_014975.3(MAST1):c.2864G>A (p.Arg955Gln)	MAST1 (R955Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2320589	NM_014975.3(MAST1):c.2866G>T (p.Asp956Tyr)	MAST1 (D956Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3123766	NM_014975.3(MAST1):c.2886T>G (p.Ser962Arg)	MAST1 (S962R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1967102	NM_014975.3(MAST1):c.2894G>A (p.Arg965His)	MAST1 (R965H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2062763	NM_014975.3(MAST1):c.3142G>T (p.Ala1048Ser)	MAST1 (A1048S)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 2324379	NM_014975.3(MAST1):c.3286C>T (p.Arg1096Trp)	MAST1 (R1096W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259535	NM_014975.3(MAST1):c.3377G>C (p.Gly1126Ala)	MAST1 (G1126A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3123767	NM_014975.3(MAST1):c.3602A>G (p.Asn1201Ser)	MAST1 (N1201S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2413084	NM_014975.3(MAST1):c.3862G>A (p.Glu1288Lys)	MAST1 (E1288K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2067416	NM_014975.3(MAST1):c.3952G>A (p.Glu1318Lys)	MAST1 (E1318K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2324662	NM_014975.3(MAST1):c.4024G>A (p.Ala1342Thr)	MAST1 (A1342T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304600	NM_014975.3(MAST1):c.4099G>A (p.Glu1367Lys)	MAST1 (E1367K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 975283	NM_014975.3(MAST1):c.4115C>A (p.Pro1372His)	MAST1 (P1372H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3123768	NM_014975.3(MAST1):c.4330G>C (p.Gly1444Arg)	MAST1 (G1444R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246258	NM_014975.3(MAST1):c.4390G>A (p.Ala1464Thr)	MAST1 (A1464T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2182019	NM_014975.3(MAST1):c.4480C>G (p.Pro1494Ala)	MAST1 (P1494A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2376720	NM_014975.3(MAST1):c.4483C>T (p.Arg1495Cys)	MAST1 (R1495C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2477423	NM_014975.3(MAST1):c.4499C>G (p.Ser1500Cys)	MAST1 (S1500C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457992	NM_014975.3(MAST1):c.4528C>T (p.Pro1510Ser)	MAST1 (P1510S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3123769	NM_014975.3(MAST1):c.4538C>G (p.Ala1513Gly)	MAST1 (A1513G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 51