"Ambry Genetics"[submitter] AND "STAB2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2508695	NM_017564.10(STAB2):c.99G>T (p.Arg33Ser)	STAB2 (R33S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384136	NM_017564.10(STAB2):c.140C>T (p.Ala47Val)	STAB2 (A47V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224679	NM_017564.10(STAB2):c.191G>T (p.Gly64Val)	STAB2 (G64V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258589	NM_017564.10(STAB2):c.263G>A (p.Arg88His)	STAB2 (R88H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473118	NM_017564.10(STAB2):c.295C>T (p.Arg99Trp)	STAB2 (R99W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295809	NM_017564.10(STAB2):c.296G>A (p.Arg99Gln)	STAB2 (R99Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2367688	NM_017564.10(STAB2):c.310C>T (p.Arg104Cys)	STAB2 (R104C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348901	NM_017564.10(STAB2):c.311G>A (p.Arg104His)	STAB2 (R104H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2612261	NM_017564.10(STAB2):c.755G>T (p.Cys252Phe)	STAB2 (C252F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322277	NM_017564.10(STAB2):c.776G>A (p.Arg259Gln)	STAB2 (R259Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2233878	NM_017564.10(STAB2):c.880G>C (p.Val294Leu)	STAB2 (V294L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531875	NM_017564.10(STAB2):c.971A>C (p.Asp324Ala)	STAB2 (D324A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219237	NM_017564.10(STAB2):c.997C>A (p.His333Asn)	STAB2 (H333N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361686	NM_017564.10(STAB2):c.1015A>T (p.Thr339Ser)	STAB2 (T339S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596552	NM_017564.10(STAB2):c.1024G>A (p.Ala342Thr)	STAB2 (A342T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378081	NM_017564.10(STAB2):c.1217C>T (p.Thr406Met)	STAB2 (T406M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323470	NM_017564.10(STAB2):c.1244T>C (p.Leu415Pro)	STAB2 (L415P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517695	NM_017564.10(STAB2):c.1277A>C (p.Asp426Ala)	STAB2 (D426A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271080	NM_017564.10(STAB2):c.1295A>C (p.Tyr432Ser)	STAB2 (Y432S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305330	NM_017564.10(STAB2):c.1382C>T (p.Ser461Leu)	STAB2 (S461L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454819	NM_017564.10(STAB2):c.1545C>G (p.Asn515Lys)	STAB2 (N515K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285076	NM_017564.10(STAB2):c.1593C>A (p.Phe531Leu)	STAB2 (F531L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610033	NM_017564.10(STAB2):c.1597T>A (p.Ser533Thr)	STAB2 (S533T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246231	NM_017564.10(STAB2):c.1639G>A (p.Asp547Asn)	STAB2 (D547N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614702	NM_017564.10(STAB2):c.1664T>C (p.Ile555Thr)	STAB2 (I555T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535796	NM_017564.10(STAB2):c.1822A>G (p.Ile608Val)	STAB2 (I608V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295289	NM_017564.10(STAB2):c.1864G>A (p.Asp622Asn)	STAB2 (D622N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2398325	NM_017564.10(STAB2):c.1908T>G (p.Ile636Met)	STAB2 (I636M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470357	NM_017564.10(STAB2):c.1991G>A (p.Arg664Gln)	STAB2 (R664Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252892	NM_017564.10(STAB2):c.2015T>C (p.Met672Thr)	STAB2 (M672T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338766	NM_017564.10(STAB2):c.2032G>A (p.Val678Met)	STAB2 (V678M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466222	NM_017564.10(STAB2):c.2075C>G (p.Ser692Cys)	STAB2 (S692C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357674	NM_017564.10(STAB2):c.2290T>C (p.Cys764Arg)	STAB2 (C764R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407173	NM_017564.10(STAB2):c.2581G>C (p.Asp861His)	STAB2 (D861H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599489	NM_017564.10(STAB2):c.2680A>G (p.Thr894Ala)	STAB2 (T894A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305869	NM_017564.10(STAB2):c.2690G>A (p.Cys897Tyr)	STAB2 (C897Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258870	NM_017564.10(STAB2):c.2800G>A (p.Gly934Arg)	STAB2 (G934R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512815	NM_017564.10(STAB2):c.2906G>A (p.Ser969Asn)	STAB2 (S969N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2289283	NM_017564.10(STAB2):c.3125T>C (p.Met1042Thr)	STAB2 (M1042T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615611	NM_017564.10(STAB2):c.3167T>G (p.Ile1056Ser)	STAB2 (I1056S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527735	NM_017564.10(STAB2):c.3188A>G (p.His1063Arg)	STAB2 (H1063R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251802	NM_017564.10(STAB2):c.3196C>G (p.Leu1066Val)	STAB2 (L1066V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552324	NM_017564.10(STAB2):c.3200G>A (p.Gly1067Asp)	STAB2 (G1067D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328601	NM_017564.10(STAB2):c.3290T>G (p.Val1097Gly)	STAB2 (V1097G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382660	NM_017564.10(STAB2):c.3400A>G (p.Thr1134Ala)	STAB2 (T1134A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527822	NM_017564.10(STAB2):c.3412C>T (p.Pro1138Ser)	STAB2 (P1138S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345639	NM_017564.10(STAB2):c.3460C>T (p.Arg1154Trp)	STAB2 (R1154W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463744	NM_017564.10(STAB2):c.3461G>A (p.Arg1154Gln)	STAB2 (R1154Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231283	NM_017564.10(STAB2):c.3599G>A (p.Arg1200Gln)	STAB2 (R1200Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375029	NM_017564.10(STAB2):c.3656A>G (p.His1219Arg)	STAB2 (H1219R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462367	NM_017564.10(STAB2):c.3659G>A (p.Arg1220His)	STAB2 (R1220H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228598	NM_017564.10(STAB2):c.3683A>C (p.Tyr1228Ser)	STAB2 (Y1228S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300001	NM_017564.10(STAB2):c.3710A>G (p.Asp1237Gly)	STAB2 (D1237G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236052	NM_017564.10(STAB2):c.3719A>G (p.Tyr1240Cys)	STAB2 (Y1240C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411326	NM_017564.10(STAB2):c.3928A>T (p.Thr1310Ser)	STAB2 (T1310S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480829	NM_017564.10(STAB2):c.4049G>C (p.Gly1350Ala)	STAB2 (G1350A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 806928	NM_017564.10(STAB2):c.4073G>A (p.Gly1358Asp)	STAB2 (G1358D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2279459	NM_017564.10(STAB2):c.4138G>A (p.Gly1380Ser)	STAB2 (G1380S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560641	NM_017564.10(STAB2):c.4165G>A (p.Gly1389Ser)	STAB2 (G1389S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394982	NM_017564.10(STAB2):c.4174G>A (p.Gly1392Ser)	STAB2 (G1392S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245884	NM_017564.10(STAB2):c.4180C>T (p.His1394Tyr)	STAB2 (H1394Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377802	NM_017564.10(STAB2):c.4233G>T (p.Leu1411Phe)	STAB2 (L1411F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226884	NM_017564.10(STAB2):c.4277A>G (p.His1426Arg)	STAB2 (H1426R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367689	NM_017564.10(STAB2):c.4391G>A (p.Gly1464Glu)	STAB2 (G1464E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459940	NM_017564.10(STAB2):c.4547C>T (p.Pro1516Leu)	STAB2 (P1516L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253781	NM_017564.10(STAB2):c.4567G>A (p.Gly1523Ser)	STAB2 (G1523S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253695	NM_017564.10(STAB2):c.4583C>A (p.Ala1528Glu)	STAB2 (A1528E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279109	NM_017564.10(STAB2):c.4702G>C (p.Glu1568Gln)	STAB2 (E1568Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592690	NM_017564.10(STAB2):c.4786C>A (p.Arg1596Ser)	STAB2 (R1596S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378888	NM_017564.10(STAB2):c.4786C>T (p.Arg1596Cys)	STAB2 (R1596C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519643	NM_017564.10(STAB2):c.4787G>A (p.Arg1596His)	STAB2 (R1596H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368517	NM_017564.10(STAB2):c.4820C>T (p.Pro1607Leu)	STAB2 (P1607L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482226	NM_017564.10(STAB2):c.4870C>A (p.Leu1624Met)	STAB2 (L1624M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265001	NM_017564.10(STAB2):c.4883G>A (p.Gly1628Asp)	STAB2 (G1628D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395921	NM_017564.10(STAB2):c.4913C>A (p.Ala1638Glu)	STAB2 (A1638E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609884	NM_017564.10(STAB2):c.5028G>T (p.Leu1676Phe)	STAB2 (L1676F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231482	NM_017564.10(STAB2):c.5203G>C (p.Asp1735His)	STAB2 (D1735H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488719	NM_017564.10(STAB2):c.5225A>C (p.Gln1742Pro)	STAB2 (Q1742P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488652	NM_017564.10(STAB2):c.5241G>C (p.Leu1747Phe)	STAB2 (L1747F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360813	NM_017564.10(STAB2):c.5311G>A (p.Asp1771Asn)	STAB2 (D1771N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366804	NM_017564.10(STAB2):c.5417A>G (p.Lys1806Arg)	STAB2 (K1806R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555876	NM_017564.10(STAB2):c.5440C>T (p.His1814Tyr)	STAB2 (H1814Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208479	NM_017564.10(STAB2):c.5448A>G (p.Ile1816Met)	STAB2 (I1816M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310999	NM_017564.10(STAB2):c.5561T>C (p.Phe1854Ser)	STAB2 (F1854S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403780	NM_017564.10(STAB2):c.5573A>G (p.Gln1858Arg)	STAB2 (Q1858R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381346	NM_017564.10(STAB2):c.5626G>A (p.Gly1876Ser)	STAB2 (G1876S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592275	NM_017564.10(STAB2):c.5666G>A (p.Arg1889His)	STAB2 (R1889H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281926	NM_017564.10(STAB2):c.5723C>T (p.Thr1908Ile)	STAB2 (T1908I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335474	NM_017564.10(STAB2):c.5756G>T (p.Gly1919Val)	STAB2 (G1919V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246232	NM_017564.10(STAB2):c.5846G>C (p.Arg1949Thr)	STAB2 (R1949T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385271	NM_017564.10(STAB2):c.5950G>A (p.Gly1984Arg)	STAB2 (G1984R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231256	NM_017564.10(STAB2):c.6091C>T (p.Leu2031Phe)	STAB2 (L2031F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226557	NM_017564.10(STAB2):c.6113G>A (p.Gly2038Asp)	STAB2 (G2038D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251803	NM_017564.10(STAB2):c.6235A>G (p.Thr2079Ala)	STAB2, NT5DC3 (T2079A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348329	NM_017564.10(STAB2):c.6258C>G (p.Cys2086Trp)	NT5DC3, STAB2 (C2086W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621391	NM_017564.10(STAB2):c.6388G>A (p.Gly2130Ser)	NT5DC3, STAB2 (G2130S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212843	NM_017564.10(STAB2):c.6517C>T (p.Arg2173Cys)	NT5DC3, STAB2 (R2173C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555989	NM_017564.10(STAB2):c.6548C>A (p.Ala2183Glu)	NT5DC3, STAB2 (A2183E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483942	NM_017564.10(STAB2):c.6574T>G (p.Phe2192Val)	NT5DC3, STAB2 (F2192V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408320	NM_017564.10(STAB2):c.6667G>A (p.Glu2223Lys)	NT5DC3, STAB2 (E2223K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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