ClinVar for Gene (Select 23139) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293401	NM_015112.3(MAST2):c.3136A>G (p.Lys1046Glu)	MAST2 (K1046E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293400	NM_015112.3(MAST2):c.4746G>T (p.Arg1582Ser)	MAST2 (R1589S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293399	NM_015112.3(MAST2):c.3176T>A (p.Leu1059His)	MAST2 (L1059H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293398	NM_015112.3(MAST2):c.4590C>G (p.Ser1530Arg)	MAST2 (S1537R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293397	NM_015112.3(MAST2):c.2305G>C (p.Glu769Gln)	MAST2 (E615Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293396	NM_015112.3(MAST2):c.5099G>C (p.Arg1700Thr)	MAST2 (R1700T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293395	NM_015112.3(MAST2):c.3821G>C (p.Arg1274Pro)	MAST2 (R1273P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293394	NM_015112.3(MAST2):c.2263G>A (p.Ala755Thr)	MAST2 (A762T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293393	NM_015112.3(MAST2):c.199C>T (p.Pro67Ser)	MAST2 (P67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293392	NM_015112.3(MAST2):c.3862C>T (p.His1288Tyr)	MAST2 (H1134Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293390	NM_015112.3(MAST2):c.2680C>T (p.Arg894Trp)	MAST2 (R740W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293389	NM_015112.3(MAST2):c.5342A>G (p.His1781Arg)	MAST2 (H1781R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293388	NM_015112.3(MAST2):c.4313A>T (p.Lys1438Met)	MAST2 (K1284M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293387	NM_015112.3(MAST2):c.4058C>A (p.Pro1353Gln)	MAST2 (P1199Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3236578	NM_015112.3(MAST2):c.2135G>T (p.Gly712Val)	MAST2 (G558V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3123816	NM_015112.3(MAST2):c.626C>T (p.Ser209Phe)	MAST2 (S209F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123815	NM_015112.3(MAST2):c.608A>G (p.Asp203Gly)	MAST2 (D203G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123814	NM_015112.3(MAST2):c.600T>G (p.Ser200Arg)	MAST2 (S39R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123813	NM_015112.3(MAST2):c.563G>A (p.Arg188Gln)	MAST2 (R27Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123812	NM_015112.3(MAST2):c.5353C>T (p.Arg1785Trp)	MAST2 (R1784W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123811	NM_015112.3(MAST2):c.5269G>C (p.Val1757Leu)	MAST2 (V1757L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123810	NM_015112.3(MAST2):c.5048T>C (p.Leu1683Pro)	MAST2 (L1529P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123809	NM_015112.3(MAST2):c.4913C>A (p.Thr1638Asn)	MAST2 (T1637N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123808	NM_015112.3(MAST2):c.4891T>C (p.Ser1631Pro)	MAST2 (S1477P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123807	NM_015112.3(MAST2):c.4843G>A (p.Gly1615Ser)	MAST2 (G1622S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123806	NM_015112.3(MAST2):c.4574C>G (p.Pro1525Arg)	MAST2 (P1371R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123805	NM_015112.3(MAST2):c.4573C>T (p.Pro1525Ser)	MAST2 (P1525S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123804	NM_015112.3(MAST2):c.4496G>A (p.Arg1499His)	MAST2 (R1345H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123803	NM_015112.3(MAST2):c.4394C>T (p.Pro1465Leu)	MAST2 (P1472L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123802	NM_015112.3(MAST2):c.4277G>C (p.Arg1426Pro)	MAST2 (R1425P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123801	NM_015112.3(MAST2):c.4208A>G (p.Lys1403Arg)	MAST2 (K1249R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123800	NM_015112.3(MAST2):c.4193G>A (p.Arg1398His)	MAST2 (R1405H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123798	NM_015112.3(MAST2):c.4055C>A (p.Pro1352His)	MAST2 (P1352H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123797	NM_015112.3(MAST2):c.3992G>A (p.Arg1331His)	MAST2 (R1331H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123796	NM_015112.3(MAST2):c.38C>T (p.Pro13Leu)	MAST2 (P13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123795	NM_015112.3(MAST2):c.3653G>A (p.Arg1218His)	MAST2 (R1218H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123794	NM_015112.3(MAST2):c.340C>G (p.Pro114Ala)	MAST2 (P114A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123793	NM_015112.3(MAST2):c.3355C>T (p.Arg1119Trp)	MAST2 (R1126W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123792	NM_015112.3(MAST2):c.3326G>A (p.Arg1109Gln)	MAST2 (R1116Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123791	NM_015112.3(MAST2):c.3301A>G (p.Met1101Val)	MAST2 (M1101V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3123790	NM_015112.3(MAST2):c.3199T>A (p.Cys1067Ser)	MAST2 (C913S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123789	NM_015112.3(MAST2):c.3151G>A (p.Ala1051Thr)	MAST2 (A1051T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123788	NM_015112.3(MAST2):c.3085C>T (p.Arg1029Trp)	MAST2 (R1036W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123786	NM_015112.3(MAST2):c.3070C>T (p.Arg1024Cys)	MAST2 (R1031C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123785	NM_015112.3(MAST2):c.29C>T (p.Pro10Leu)	MAST2 (P10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123784	NM_015112.3(MAST2):c.2653G>T (p.Gly885Cys)	MAST2 (G731C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123783	NM_015112.3(MAST2):c.2653G>A (p.Gly885Ser)	MAST2 (G731S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123782	NM_015112.3(MAST2):c.2573G>A (p.Arg858Gln)	MAST2 (R704Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123781	NM_015112.3(MAST2):c.2554G>A (p.Val852Met)	MAST2 (V859M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123780	NM_015112.3(MAST2):c.2447G>A (p.Arg816His)	MAST2 (R662H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123778	NM_015112.3(MAST2):c.1748G>A (p.Arg583His)	MAST2 (R429H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123777	NM_015112.3(MAST2):c.1670C>T (p.Ala557Val)	MAST2 (A557V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123775	NM_015112.3(MAST2):c.1349A>G (p.Glu450Gly)	MAST2 (E296G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123774	NM_015112.3(MAST2):c.1255A>G (p.Ile419Val)	MAST2 (I265V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3123773	NM_015112.3(MAST2):c.1026C>A (p.Asn342Lys)	MAST2 (N349K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123772	NM_015112.3(MAST2):c.1024A>G (p.Asn342Asp)	MAST2 (N342D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123771	NM_015112.3(MAST2):c.100C>T (p.Pro34Ser)	MAST2 (P34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2638794	NM_015112.3(MAST2):c.1495G>C (p.Ala499Pro)	MAST2 (A345P +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638793	NM_015112.3(MAST2):c.1143A>G (p.Gln381=)	MAST2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621227	NM_015112.3(MAST2):c.4643C>T (p.Pro1548Leu)	MAST2 (P1547L +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2613829	NM_015112.3(MAST2):c.2616G>T (p.Lys872Asn)	MAST2 (K718N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602829	NM_015112.3(MAST2):c.3619A>G (p.Lys1207Glu)	MAST2 (K1214E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602009	NM_015112.3(MAST2):c.1204G>A (p.Glu402Lys)	MAST2 (E248K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594767	NM_015112.3(MAST2):c.2456G>A (p.Arg819Gln)	MAST2 (R819Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590389	NM_015112.3(MAST2):c.2681G>A (p.Arg894Gln)	MAST2 (R894Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559009	NM_015112.3(MAST2):c.1473T>G (p.Asp491Glu)	MAST2 (D337E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558774	NM_015112.3(MAST2):c.5378A>C (p.Glu1793Ala)	MAST2 (E1639A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557122	NM_015112.3(MAST2):c.3704T>A (p.Ile1235Asn)	MAST2 (I1081N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554837	NM_015112.3(MAST2):c.5064C>A (p.Asn1688Lys)	MAST2 (N1534K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554205	NM_015112.3(MAST2):c.2596C>T (p.Arg866Trp)	MAST2 (R873W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545046	NM_015112.3(MAST2):c.1850C>T (p.Ala617Val)	MAST2 (A463V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538178	NM_015112.3(MAST2):c.2990C>G (p.Pro997Arg)	MAST2 (P843R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537103	NM_015112.3(MAST2):c.3853G>A (p.Asp1285Asn)	MAST2 (D1284N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531036	NM_015112.3(MAST2):c.232A>T (p.Ile78Leu)	MAST2 (I78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530735	NM_015112.3(MAST2):c.2025G>C (p.Lys675Asn)	MAST2 (K675N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530212	NM_015112.3(MAST2):c.5147C>T (p.Pro1716Leu)	MAST2 (P1562L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528848	NM_015112.3(MAST2):c.1274G>A (p.Arg425His)	MAST2 (R271H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527456	NM_015112.3(MAST2):c.2293C>G (p.Gln765Glu)	MAST2 (Q611E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523551	NM_015112.3(MAST2):c.2627G>A (p.Ser876Asn)	MAST2 (S876N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523229	NM_015112.3(MAST2):c.3697C>T (p.Arg1233Cys)	MAST2 (R1232C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520033	NM_015112.3(MAST2):c.5164A>C (p.Ser1722Arg)	MAST2 (S1722R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514439	NM_015112.3(MAST2):c.4904C>T (p.Ser1635Leu)	MAST2 (S1635L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493410	NM_015112.3(MAST2):c.1100G>A (p.Arg367Gln)	MAST2 (R367Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492805	NM_015112.3(MAST2):c.307C>G (p.Leu103Val)	MAST2 (L103V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488268	NM_015112.3(MAST2):c.2605C>T (p.Pro869Ser)	MAST2 (P876S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487962	NM_015112.3(MAST2):c.1406C>T (p.Thr469Ile)	MAST2 (T469I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460875	NM_015112.3(MAST2):c.2807C>T (p.Ala936Val)	MAST2 (A943V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2459936	NM_015112.3(MAST2):c.5390A>G (p.Gln1797Arg)	MAST2 (Q1796R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456002	NM_015112.3(MAST2):c.202C>A (p.Leu68Met)	MAST2 (L68M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454953	NM_015112.3(MAST2):c.2597G>A (p.Arg866Gln)	MAST2 (R873Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425557	NC_000001.10:g.(?_44257753)_(46663493_?)dup	AKR1A1, ARMH1 +39 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2403064	NM_015112.3(MAST2):c.2380C>G (p.Leu794Val)	MAST2 (L801V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401481	NM_015112.3(MAST2):c.4777G>A (p.Ala1593Thr)	MAST2 (A1439T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400515	NM_015112.3(MAST2):c.2227G>T (p.Val743Leu)	MAST2 (V589L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398863	NM_015112.3(MAST2):c.2330A>G (p.Tyr777Cys)	MAST2 (Y623C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398023	NM_015112.3(MAST2):c.2897G>T (p.Gly966Val)	MAST2 (G973V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395131	NM_015112.3(MAST2):c.2996T>C (p.Met999Thr)	MAST2 (M999T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394224	NM_015112.3(MAST2):c.4193G>T (p.Arg1398Leu)	MAST2 (R1405L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390876	NM_015112.3(MAST2):c.892C>T (p.Arg298Trp)	MAST2 (R305W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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