ClinVar for Gene (Select 55576) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3323033	NM_017564.10(STAB2):c.49A>G (p.Asn17Asp)	STAB2 (N17D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323032	NM_017564.10(STAB2):c.7091G>A (p.Gly2364Glu)	NT5DC3, STAB2 (G2364E)	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 3323030	NM_017564.10(STAB2):c.6883G>A (p.Val2295Met)	NT5DC3, STAB2 (V2295M)	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 3323028	NM_017564.10(STAB2):c.7583A>T (p.Glu2528Val)	NT5DC3, STAB2 (E2528V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3323026	NM_017564.10(STAB2):c.311G>T (p.Arg104Leu)	STAB2 (R104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323025	NM_017564.10(STAB2):c.6005C>T (p.Pro2002Leu)	STAB2 (P2002L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323024	NM_017564.10(STAB2):c.5846G>T (p.Arg1949Met)	STAB2 (R1949M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323023	NM_017564.10(STAB2):c.7544C>T (p.Ser2515Leu)	NT5DC3, STAB2 (S2515L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323022	NM_017564.10(STAB2):c.7639C>T (p.Pro2547Ser)	NT5DC3, STAB2 (P2547S)	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 3323020	NM_017564.10(STAB2):c.3097G>A (p.Val1033Met)	STAB2 (V1033M)	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 3323018	NM_017564.10(STAB2):c.6608G>A (p.Arg2203His)	NT5DC3, STAB2 (R2203H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323017	NM_017564.10(STAB2):c.7247C>G (p.Pro2416Arg)	NT5DC3, STAB2 (P2416R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3323015	NM_017564.10(STAB2):c.7458C>A (p.Asn2486Lys)	NT5DC3, STAB2 (N2486K)	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 3323013	NM_017564.10(STAB2):c.691G>A (p.Asp231Asn)	STAB2 (D231N)	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 3323011	NM_017564.10(STAB2):c.692A>G (p.Asp231Gly)	STAB2 (D231G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323010	NM_017564.10(STAB2):c.6454G>A (p.Glu2152Lys)	NT5DC3, STAB2 (E2152K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323009	NM_017564.10(STAB2):c.6062A>T (p.Asp2021Val)	STAB2 (D2021V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323008	NM_017564.10(STAB2):c.6533A>C (p.Asn2178Thr)	NT5DC3, STAB2 (N2178T)	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 3170853	NM_017564.10(STAB2):c.875C>T (p.Ser292Phe)	STAB2 (S292F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3170851	NM_017564.10(STAB2):c.781A>G (p.Ser261Gly)	STAB2 (S261G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170850	NM_017564.10(STAB2):c.7471G>A (p.Gly2491Ser)	NT5DC3, STAB2 (G2491S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170849	NM_017564.10(STAB2):c.7459C>T (p.Arg2487Trp)	NT5DC3, STAB2 (R2487W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170848	NM_017564.10(STAB2):c.7155G>A (p.Met2385Ile)	NT5DC3, STAB2 (M2385I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3170847	NM_017564.10(STAB2):c.7121G>A (p.Arg2374Gln)	NT5DC3, STAB2 (R2374Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170846	NM_017564.10(STAB2):c.7049A>G (p.Asp2350Gly)	NT5DC3, STAB2 (D2350G)	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 3170844	NM_017564.10(STAB2):c.6898A>G (p.Lys2300Glu)	NT5DC3, STAB2 (K2300E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170842	NM_017564.10(STAB2):c.6596T>G (p.Val2199Gly)	NT5DC3, STAB2 (V2199G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170841	NM_017564.10(STAB2):c.6446A>T (p.His2149Leu)	NT5DC3, STAB2 (H2149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170840	NM_017564.10(STAB2):c.6437C>T (p.Pro2146Leu)	NT5DC3, STAB2 (P2146L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170839	NM_017564.10(STAB2):c.6428T>C (p.Met2143Thr)	NT5DC3, STAB2 (M2143T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170838	NM_017564.10(STAB2):c.6382G>A (p.Ala2128Thr)	NT5DC3, STAB2 (A2128T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170837	NM_017564.10(STAB2):c.6228C>G (p.Asp2076Glu)	NT5DC3, STAB2 (D2076E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170836	NM_017564.10(STAB2):c.6074C>T (p.Thr2025Met)	STAB2 (T2025M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170835	NM_017564.10(STAB2):c.5971G>A (p.Gly1991Ser)	STAB2 (G1991S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170834	NM_017564.10(STAB2):c.5762A>T (p.Lys1921Met)	STAB2 (K1921M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170833	NM_017564.10(STAB2):c.5665C>T (p.Arg1889Cys)	STAB2 (R1889C)	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 3170831	NM_017564.10(STAB2):c.5593C>T (p.Arg1865Trp)	STAB2 (R1865W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170830	NM_017564.10(STAB2):c.5474A>G (p.Asp1825Gly)	STAB2 (D1825G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170828	NM_017564.10(STAB2):c.5350G>A (p.Asp1784Asn)	STAB2 (D1784N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170827	NM_017564.10(STAB2):c.5234C>A (p.Thr1745Lys)	STAB2 (T1745K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170826	NM_017564.10(STAB2):c.5194A>T (p.Thr1732Ser)	STAB2 (T1732S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3170824	NM_017564.10(STAB2):c.4880C>T (p.Pro1627Leu)	STAB2 (P1627L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3170822	NM_017564.10(STAB2):c.4382G>A (p.Gly1461Glu)	STAB2 (G1461E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170821	NM_017564.10(STAB2):c.4309A>G (p.Asn1437Asp)	STAB2 (N1437D)	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 3170818	NM_017564.10(STAB2):c.3901G>C (p.Gly1301Arg)	STAB2 (G1301R)	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 3170816	NM_017564.10(STAB2):c.3849A>T (p.Arg1283Ser)	STAB2 (R1283S)	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 3170814	NM_017564.10(STAB2):c.3592G>T (p.Val1198Phe)	STAB2 (V1198F)	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 3170812	NM_017564.10(STAB2):c.3305C>T (p.Thr1102Ile)	STAB2 (T1102I)	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 3170810	NM_017564.10(STAB2):c.3100C>G (p.Pro1034Ala)	STAB2 (P1034A)	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 3170807	NM_017564.10(STAB2):c.2332T>C (p.Cys778Arg)	STAB2 (C778R)	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 3170805	NM_017564.10(STAB2):c.2263G>A (p.Ala755Thr)	STAB2 (A755T)	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 3170803	NM_017564.10(STAB2):c.1705G>A (p.Gly569Ser)	STAB2 (G569S)	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 3170801	NM_017564.10(STAB2):c.1610A>T (p.Glu537Val)	STAB2 (E537V)	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 2643251	NM_017564.10(STAB2):c.5425G>C (p.Glu1809Gln)	STAB2 (E1809Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643250	NM_017564.10(STAB2):c.3395G>A (p.Arg1132His)	STAB2 (R1132H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643249	NM_017564.10(STAB2):c.1657T>C (p.Tyr553His)	STAB2 (Y553H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2621391	NM_017564.10(STAB2):c.6388G>A (p.Gly2130Ser)	NT5DC3, STAB2 (G2130S)	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 2614702	NM_017564.10(STAB2):c.1664T>C (p.Ile555Thr)	STAB2 (I555T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2610033	NM_017564.10(STAB2):c.1597T>A (p.Ser533Thr)	STAB2 (S533T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609884	NM_017564.10(STAB2):c.5028G>T (p.Leu1676Phe)	STAB2 (L1676F)	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 2598635	NM_017564.10(STAB2):c.6986C>T (p.Thr2329Met)	NT5DC3, STAB2 (T2329M)	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 2594995	NM_017564.10(STAB2):c.6781G>A (p.Ala2261Thr)	NT5DC3, STAB2 (A2261T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592690	NM_017564.10(STAB2):c.4786C>A (p.Arg1596Ser)	STAB2 (R1596S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592275	NM_017564.10(STAB2):c.5666G>A (p.Arg1889His)	STAB2 (R1889H)	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
Select item 2555990	NM_017564.10(STAB2):c.7187C>T (p.Thr2396Ile)	NT5DC3, STAB2 (T2396I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2555989	NM_017564.10(STAB2):c.6548C>A (p.Ala2183Glu)	NT5DC3, STAB2 (A2183E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555876	NM_017564.10(STAB2):c.5440C>T (p.His1814Tyr)	STAB2 (H1814Y)	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 2535796	NM_017564.10(STAB2):c.1822A>G (p.Ile608Val)	STAB2 (I608V)	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

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