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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3170825	NM_017564.10(STAB2):c.4A>G (p.Met2Val)	STAB2 (M2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170813	NM_017564.10(STAB2):c.34G>A (p.Gly12Arg)	STAB2 (G12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323033	NM_017564.10(STAB2):c.49A>G (p.Asn17Asp)	STAB2 (N17D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508695	NM_017564.10(STAB2):c.99G>T (p.Arg33Ser)	STAB2 (R33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384136	NM_017564.10(STAB2):c.140C>T (p.Ala47Val)	STAB2 (A47V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170802	NM_017564.10(STAB2):c.161G>T (p.Cys54Phe)	STAB2 (C54F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224679	NM_017564.10(STAB2):c.191G>T (p.Gly64Val)	STAB2 (G64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258589	NM_017564.10(STAB2):c.263G>A (p.Arg88His)	STAB2 (R88H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473118	NM_017564.10(STAB2):c.295C>T (p.Arg99Trp)	STAB2 (R99W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295809	NM_017564.10(STAB2):c.296G>A (p.Arg99Gln)	STAB2 (R99Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2367688	NM_017564.10(STAB2):c.310C>T (p.Arg104Cys)	STAB2 (R104C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323026	NM_017564.10(STAB2):c.311G>T (p.Arg104Leu)	STAB2 (R104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348901	NM_017564.10(STAB2):c.311G>A (p.Arg104His)	STAB2 (R104H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3170823	NM_017564.10(STAB2):c.457G>A (p.Asp153Asn)	STAB2 (D153N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170832	NM_017564.10(STAB2):c.565G>A (p.Gly189Ser)	STAB2 (G189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323021	NM_017564.10(STAB2):c.638C>T (p.Ser213Phe)	STAB2 (S213F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170845	NM_017564.10(STAB2):c.689G>A (p.Gly230Asp)	STAB2 (G230D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323013	NM_017564.10(STAB2):c.691G>A (p.Asp231Asn)	STAB2 (D231N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323011	NM_017564.10(STAB2):c.692A>G (p.Asp231Gly)	STAB2 (D231G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323014	NM_017564.10(STAB2):c.733A>G (p.Ile245Val)	STAB2 (I245V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2612261	NM_017564.10(STAB2):c.755G>T (p.Cys252Phe)	STAB2 (C252F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323029	NM_017564.10(STAB2):c.773A>T (p.Asn258Ile)	STAB2 (N258I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322277	NM_017564.10(STAB2):c.776G>A (p.Arg259Gln)	STAB2 (R259Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3170851	NM_017564.10(STAB2):c.781A>G (p.Ser261Gly)	STAB2 (S261G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323007	NM_017564.10(STAB2):c.806G>A (p.Arg269His)	STAB2 (R269H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3170852	NM_017564.10(STAB2):c.847A>G (p.Ile283Val)	STAB2 (I283V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3170853	NM_017564.10(STAB2):c.875C>T (p.Ser292Phe)	STAB2 (S292F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233878	NM_017564.10(STAB2):c.880G>C (p.Val294Leu)	STAB2 (V294L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531875	NM_017564.10(STAB2):c.971A>C (p.Asp324Ala)	STAB2 (D324A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219237	NM_017564.10(STAB2):c.997C>A (p.His333Asn)	STAB2 (H333N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361686	NM_017564.10(STAB2):c.1015A>T (p.Thr339Ser)	STAB2 (T339S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596552	NM_017564.10(STAB2):c.1024G>A (p.Ala342Thr)	STAB2 (A342T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378081	NM_017564.10(STAB2):c.1217C>T (p.Thr406Met)	STAB2 (T406M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323470	NM_017564.10(STAB2):c.1244T>C (p.Leu415Pro)	STAB2 (L415P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517695	NM_017564.10(STAB2):c.1277A>C (p.Asp426Ala)	STAB2 (D426A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271080	NM_017564.10(STAB2):c.1295A>C (p.Tyr432Ser)	STAB2 (Y432S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305330	NM_017564.10(STAB2):c.1382C>T (p.Ser461Leu)	STAB2 (S461L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170800	NM_017564.10(STAB2):c.1481C>A (p.Ser494Tyr)	STAB2 (S494Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454819	NM_017564.10(STAB2):c.1545C>G (p.Asn515Lys)	STAB2 (N515K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285076	NM_017564.10(STAB2):c.1593C>A (p.Phe531Leu)	STAB2 (F531L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610033	NM_017564.10(STAB2):c.1597T>A (p.Ser533Thr)	STAB2 (S533T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170801	NM_017564.10(STAB2):c.1610A>T (p.Glu537Val)	STAB2 (E537V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246231	NM_017564.10(STAB2):c.1639G>A (p.Asp547Asn)	STAB2 (D547N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614702	NM_017564.10(STAB2):c.1664T>C (p.Ile555Thr)	STAB2 (I555T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170803	NM_017564.10(STAB2):c.1705G>A (p.Gly569Ser)	STAB2 (G569S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535796	NM_017564.10(STAB2):c.1822A>G (p.Ile608Val)	STAB2 (I608V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295289	NM_017564.10(STAB2):c.1864G>A (p.Asp622Asn)	STAB2 (D622N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3323016	NM_017564.10(STAB2):c.1889A>G (p.Asp630Gly)	STAB2 (D630G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2398325	NM_017564.10(STAB2):c.1908T>G (p.Ile636Met)	STAB2 (I636M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470357	NM_017564.10(STAB2):c.1991G>A (p.Arg664Gln)	STAB2 (R664Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252892	NM_017564.10(STAB2):c.2015T>C (p.Met672Thr)	STAB2 (M672T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338766	NM_017564.10(STAB2):c.2032G>A (p.Val678Met)	STAB2 (V678M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466222	NM_017564.10(STAB2):c.2075C>G (p.Ser692Cys)	STAB2 (S692C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170804	NM_017564.10(STAB2):c.2149C>T (p.Arg717Trp)	LOC105369946, STAB2 (R717W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3170805	NM_017564.10(STAB2):c.2263G>A (p.Ala755Thr)	STAB2 (A755T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357674	NM_017564.10(STAB2):c.2290T>C (p.Cys764Arg)	STAB2 (C764R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170806	NM_017564.10(STAB2):c.2314G>A (p.Gly772Ser)	STAB2 (G772S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170807	NM_017564.10(STAB2):c.2332T>C (p.Cys778Arg)	STAB2 (C778R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170808	NM_017564.10(STAB2):c.2521G>A (p.Ala841Thr)	STAB2 (A841T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323012	NM_017564.10(STAB2):c.2533T>C (p.Tyr845His)	STAB2 (Y845H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407173	NM_017564.10(STAB2):c.2581G>C (p.Asp861His)	STAB2 (D861H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323031	NM_017564.10(STAB2):c.2641C>T (p.Arg881Cys)	STAB2 (R881C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599489	NM_017564.10(STAB2):c.2680A>G (p.Thr894Ala)	STAB2 (T894A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305869	NM_017564.10(STAB2):c.2690G>A (p.Cys897Tyr)	STAB2 (C897Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323019	NM_017564.10(STAB2):c.2761G>A (p.Gly921Ser)	STAB2 (G921S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258870	NM_017564.10(STAB2):c.2800G>A (p.Gly934Arg)	STAB2 (G934R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512815	NM_017564.10(STAB2):c.2906G>A (p.Ser969Asn)	STAB2 (S969N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3323027	NM_017564.10(STAB2):c.2909G>A (p.Cys970Tyr)	STAB2 (C970Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323020	NM_017564.10(STAB2):c.3097G>A (p.Val1033Met)	STAB2 (V1033M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170810	NM_017564.10(STAB2):c.3100C>G (p.Pro1034Ala)	STAB2 (P1034A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289283	NM_017564.10(STAB2):c.3125T>C (p.Met1042Thr)	STAB2 (M1042T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615611	NM_017564.10(STAB2):c.3167T>G (p.Ile1056Ser)	STAB2 (I1056S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527735	NM_017564.10(STAB2):c.3188A>G (p.His1063Arg)	STAB2 (H1063R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251802	NM_017564.10(STAB2):c.3196C>G (p.Leu1066Val)	STAB2 (L1066V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552324	NM_017564.10(STAB2):c.3200G>A (p.Gly1067Asp)	STAB2 (G1067D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170811	NM_017564.10(STAB2):c.3209G>A (p.Arg1070Lys)	STAB2 (R1070K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328601	NM_017564.10(STAB2):c.3290T>G (p.Val1097Gly)	STAB2 (V1097G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170812	NM_017564.10(STAB2):c.3305C>T (p.Thr1102Ile)	STAB2 (T1102I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382660	NM_017564.10(STAB2):c.3400A>G (p.Thr1134Ala)	STAB2 (T1134A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527822	NM_017564.10(STAB2):c.3412C>T (p.Pro1138Ser)	STAB2 (P1138S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345639	NM_017564.10(STAB2):c.3460C>T (p.Arg1154Trp)	STAB2 (R1154W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463744	NM_017564.10(STAB2):c.3461G>A (p.Arg1154Gln)	STAB2 (R1154Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170814	NM_017564.10(STAB2):c.3592G>T (p.Val1198Phe)	STAB2 (V1198F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231283	NM_017564.10(STAB2):c.3599G>A (p.Arg1200Gln)	STAB2 (R1200Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375029	NM_017564.10(STAB2):c.3656A>G (p.His1219Arg)	STAB2 (H1219R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462367	NM_017564.10(STAB2):c.3659G>A (p.Arg1220His)	STAB2 (R1220H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228598	NM_017564.10(STAB2):c.3683A>C (p.Tyr1228Ser)	STAB2 (Y1228S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300001	NM_017564.10(STAB2):c.3710A>G (p.Asp1237Gly)	STAB2 (D1237G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236052	NM_017564.10(STAB2):c.3719A>G (p.Tyr1240Cys)	STAB2 (Y1240C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170815	NM_017564.10(STAB2):c.3830C>T (p.Thr1277Ile)	STAB2 (T1277I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170816	NM_017564.10(STAB2):c.3849A>T (p.Arg1283Ser)	STAB2 (R1283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170817	NM_017564.10(STAB2):c.3886G>A (p.Gly1296Arg)	STAB2 (G1296R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170818	NM_017564.10(STAB2):c.3901G>C (p.Gly1301Arg)	STAB2 (G1301R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170819	NM_017564.10(STAB2):c.3914G>A (p.Arg1305Lys)	STAB2 (R1305K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2411326	NM_017564.10(STAB2):c.3928A>T (p.Thr1310Ser)	STAB2 (T1310S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480829	NM_017564.10(STAB2):c.4049G>C (p.Gly1350Ala)	STAB2 (G1350A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323034	NM_017564.10(STAB2):c.4063G>A (p.Val1355Ile)	STAB2 (V1355I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 806928	NM_017564.10(STAB2):c.4073G>A (p.Gly1358Asp)	STAB2 (G1358D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2279459	NM_017564.10(STAB2):c.4138G>A (p.Gly1380Ser)	STAB2 (G1380S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560641	NM_017564.10(STAB2):c.4165G>A (p.Gly1389Ser)	STAB2 (G1389S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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