"Ambry Genetics"[submitter] AND "MAP1B"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2597537	NM_005909.5(MAP1B):c.49A>G (p.Ile17Val)	MAP1B (I17V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238803	NM_005909.5(MAP1B):c.53C>G (p.Ala18Gly)	MAP1B (A18G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349216	NM_005909.5(MAP1B):c.175A>G (p.Ile59Val)	MAP1B (I59V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2542788	NM_005909.5(MAP1B):c.176T>C (p.Ile59Thr)	MAP1B (I59T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255026	NM_005909.5(MAP1B):c.443G>A (p.Gly148Glu)	MAP1B (G22E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122721	NM_005909.5(MAP1B):c.817G>A (p.Ala273Thr)	MAP1B (A273T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281392	NM_005909.5(MAP1B):c.935T>C (p.Ile312Thr)	MAP1B (I186T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473556	NM_005909.5(MAP1B):c.1127G>C (p.Arg376Thr)	MAP1B (R250T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399355	NM_005909.5(MAP1B):c.1133T>C (p.Ile378Thr)	MAP1B (I378T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2332554	NM_005909.5(MAP1B):c.1387A>G (p.Ile463Val)	MAP1B (I337V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302029	NM_005909.5(MAP1B):c.1517A>G (p.Lys506Arg)	MAP1B (K506R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230407	NM_005909.5(MAP1B):c.1519C>T (p.His507Tyr)	MAP1B (H507Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1723289	NM_005909.5(MAP1B):c.1573G>A (p.Val525Met)	LOC129994023, MAP1B (V399M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3122696	NM_005909.5(MAP1B):c.1582C>T (p.Pro528Ser)	LOC129994023, MAP1B (P402S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122697	NM_005909.5(MAP1B):c.1693A>G (p.Thr565Ala)	MAP1B (T439A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2236420	NM_005909.5(MAP1B):c.1766A>G (p.Lys589Arg)	MAP1B (K463R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122698	NM_005909.5(MAP1B):c.1981G>T (p.Ala661Ser)	MAP1B (A535S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2603792	NM_005909.5(MAP1B):c.1988del (p.Lys663fs)	MAP1B (K663fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3122699	NM_005909.5(MAP1B):c.2114C>T (p.Pro705Leu)	MAP1B (P579L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2496539	NM_005909.5(MAP1B):c.2132A>G (p.Lys711Arg)	MAP1B (K585R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122700	NM_005909.5(MAP1B):c.2152A>C (p.Lys718Gln)	MAP1B (K718Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593950	NM_005909.5(MAP1B):c.2216C>T (p.Ala739Val)	MAP1B (A739V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528270	NM_005909.5(MAP1B):c.2305G>T (p.Asp769Tyr)	MAP1B (D643Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457899	NM_005909.5(MAP1B):c.2320G>A (p.Gly774Arg)	MAP1B (G648R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122701	NM_005909.5(MAP1B):c.2377G>A (p.Glu793Lys)	MAP1B (E793K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655515	NM_005909.5(MAP1B):c.2380G>C (p.Ala794Pro)	MAP1B (A668P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2316158	NM_005909.5(MAP1B):c.2438G>T (p.Gly813Val)	MAP1B (G813V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603908	NM_005909.5(MAP1B):c.2476G>C (p.Glu826Gln)	MAP1B (E700Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552677	NM_005909.5(MAP1B):c.2514G>C (p.Lys838Asn)	MAP1B (K838N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2404159	NM_005909.5(MAP1B):c.2545G>A (p.Asp849Asn)	MAP1B (D723N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231145	NM_005909.5(MAP1B):c.2576A>G (p.Glu859Gly)	MAP1B (E733G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2591219	NM_005909.5(MAP1B):c.2590G>A (p.Glu864Lys)	MAP1B (E738K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122702	NM_005909.5(MAP1B):c.2737G>A (p.Glu913Lys)	MAP1B (E787K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600507	NM_005909.5(MAP1B):c.2743G>A (p.Val915Ile)	MAP1B (V915I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2540253	NM_005909.5(MAP1B):c.2755G>A (p.Gly919Arg)	MAP1B (G793R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395022	NM_005909.5(MAP1B):c.2923G>A (p.Glu975Lys)	MAP1B (E975K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212615	NM_005909.5(MAP1B):c.2951C>A (p.Ala984Glu)	MAP1B (A858E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536708	NM_005909.5(MAP1B):c.3001G>A (p.Glu1001Lys)	MAP1B (E1001K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2395504	NM_005909.5(MAP1B):c.3065A>C (p.Glu1022Ala)	MAP1B (E1022A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2241842	NM_005909.5(MAP1B):c.3077C>T (p.Ala1026Val)	MAP1B (A1026V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122704	NM_005909.5(MAP1B):c.3166G>A (p.Gly1056Ser)	MAP1B (G930S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2496540	NM_005909.5(MAP1B):c.3230C>G (p.Pro1077Arg)	MAP1B (P951R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122705	NM_005909.5(MAP1B):c.3244G>A (p.Ala1082Thr)	MAP1B (A1082T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3122706	NM_005909.5(MAP1B):c.3257A>T (p.His1086Leu)	MAP1B (H1086L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570415	NM_005909.5(MAP1B):c.3298G>A (p.Ala1100Thr)	MAP1B (A1100T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3122707	NM_005909.5(MAP1B):c.3313A>T (p.Asn1105Tyr)	MAP1B (N979Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122708	NM_005909.5(MAP1B):c.3424G>A (p.Val1142Met)	MAP1B (V1142M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258080	NM_005909.5(MAP1B):c.3484A>G (p.Ile1162Val)	MAP1B (I1162V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495251	NM_005909.5(MAP1B):c.3544C>A (p.Pro1182Thr)	MAP1B (P1056T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239986	NM_005909.5(MAP1B):c.3664G>A (p.Ala1222Thr)	MAP1B (A1222T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210730	NM_005909.5(MAP1B):c.3670C>T (p.Arg1224Cys)	MAP1B (R1098C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2410108	NM_005909.5(MAP1B):c.3752T>A (p.Val1251Asp)	MAP1B (V1251D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122709	NM_005909.5(MAP1B):c.3770C>T (p.Pro1257Leu)	MAP1B (P1257L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2326893	NM_005909.5(MAP1B):c.3797C>T (p.Pro1266Leu)	MAP1B (P1266L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371098	NM_005909.5(MAP1B):c.3845C>T (p.Thr1282Met)	MAP1B (T1282M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410617	NM_005909.5(MAP1B):c.3848C>T (p.Pro1283Leu)	MAP1B (P1157L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396956	NM_005909.5(MAP1B):c.3853G>C (p.Glu1285Gln)	MAP1B (E1285Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547888	NM_005909.5(MAP1B):c.3948G>C (p.Lys1316Asn)	MAP1B (K1190N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2408288	NM_005909.5(MAP1B):c.4027G>A (p.Glu1343Lys)	MAP1B (E1217K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514616	NM_005909.5(MAP1B):c.4202C>T (p.Pro1401Leu)	MAP1B (P1401L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2334024	NM_005909.5(MAP1B):c.4354A>G (p.Ser1452Gly)	MAP1B (S1326G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 983332	NM_005909.5(MAP1B):c.4357C>G (p.Leu1453Val)	MAP1B (L1327V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2327733	NM_005909.5(MAP1B):c.4394T>C (p.Phe1465Ser)	MAP1B (F1339S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2260757	NM_005909.5(MAP1B):c.4399C>T (p.Pro1467Ser)	MAP1B (P1467S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370204	NM_005909.5(MAP1B):c.4400C>T (p.Pro1467Leu)	MAP1B (P1467L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122712	NM_005909.5(MAP1B):c.4402A>G (p.Ile1468Val)	MAP1B (I1342V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1699771	NM_005909.5(MAP1B):c.4628A>T (p.Tyr1543Phe)	MAP1B (Y1417F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2284909	NM_005909.5(MAP1B):c.4646T>G (p.Val1549Gly)	MAP1B (V1423G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2253718	NM_005909.5(MAP1B):c.4846C>T (p.Pro1616Ser)	MAP1B (P1490S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460162	NM_005909.5(MAP1B):c.4901C>G (p.Pro1634Arg)	MAP1B (P1508R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2328785	NM_005909.5(MAP1B):c.5009C>G (p.Pro1670Arg)	MAP1B (P1544R +1 more)	Single nucleotide variant (missense variant)	MAP1B-related condition +1 more	GLikely benign
Select item 1679688	NM_005909.5(MAP1B):c.5011A>G (p.Thr1671Ala)	MAP1B (T1545A +1 more)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 9 +1 more	GUncertain significance
Select item 2345259	NM_005909.5(MAP1B):c.5114C>T (p.Pro1705Leu)	MAP1B (P1579L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294977	NM_005909.5(MAP1B):c.5126C>T (p.Pro1709Leu)	MAP1B (P1583L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122713	NM_005909.5(MAP1B):c.5140G>A (p.Asp1714Asn)	MAP1B (D1588N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2621009	NM_005909.5(MAP1B):c.5189C>T (p.Pro1730Leu)	MAP1B (P1730L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513244	NM_005909.5(MAP1B):c.5204C>T (p.Ala1735Val)	MAP1B (A1609V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122714	NM_005909.5(MAP1B):c.5213C>T (p.Pro1738Leu)	MAP1B (P1738L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483647	NM_005909.5(MAP1B):c.5216C>T (p.Ser1739Phe)	MAP1B (S1739F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205230	NM_005909.5(MAP1B):c.5224G>A (p.Ala1742Thr)	MAP1B (A1616T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2533379	NM_005909.5(MAP1B):c.5311C>G (p.Gln1771Glu)	MAP1B (Q1645E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122715	NM_005909.5(MAP1B):c.5386T>C (p.Tyr1796His)	MAP1B (Y1670H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365982	NM_005909.5(MAP1B):c.5402C>T (p.Ser1801Leu)	MAP1B (S1675L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2354847	NM_005909.5(MAP1B):c.5411C>A (p.Thr1804Asn)	MAP1B (T1678N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2331097	NM_005909.5(MAP1B):c.5626G>A (p.Glu1876Lys)	MAP1B (E1750K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558312	NM_005909.5(MAP1B):c.5690G>T (p.Arg1897Leu)	MAP1B (R1771L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122716	NM_005909.5(MAP1B):c.5717A>G (p.Tyr1906Cys)	MAP1B (Y1906C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122717	NM_005909.5(MAP1B):c.5777T>C (p.Ile1926Thr)	MAP1B (I1800T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 740105	NM_005909.5(MAP1B):c.5818T>G (p.Tyr1940Asp)	MAP1B (Y1940D +1 more)	Single nucleotide variant (missense variant)	MAP1B-related condition +2 more	GLikely benign
Select item 2222317	NM_005909.5(MAP1B):c.5830G>A (p.Glu1944Lys)	MAP1B (E1818K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2239096	NM_005909.5(MAP1B):c.6058T>A (p.Ser2020Thr)	MAP1B (S1894T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122718	NM_005909.5(MAP1B):c.6068_6069del (p.Tyr2023fs)	MAP1B (Y1897fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 986081	NM_005909.5(MAP1B):c.6106dup (p.Asp2036fs)	MAP1B (D1910fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2536889	NM_005909.5(MAP1B):c.6141A>C (p.Lys2047Asn)	MAP1B (K1921N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230811	NM_005909.5(MAP1B):c.6145A>G (p.Thr2049Ala)	MAP1B (T2049A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455937	NM_005909.5(MAP1B):c.6169T>A (p.Tyr2057Asn)	MAP1B (Y1931N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307015	NM_005909.5(MAP1B):c.6247T>G (p.Cys2083Gly)	MAP1B (C2083G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280061	NM_005909.5(MAP1B):c.6254T>C (p.Val2085Ala)	MAP1B (V1959A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3122719	NM_005909.5(MAP1B):c.6371C>T (p.Thr2124Ile)	MAP1B (T1998I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294226	NM_005909.5(MAP1B):c.6481G>C (p.Asp2161His)	MAP1B (D2035H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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