Related gene-specific medical variations for Gene (Select 51559) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3323030	NM_017564.10(STAB2):c.6883G>A (p.Val2295Met)	NT5DC3, STAB2 (V2295M)	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 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 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 3323015	NM_017564.10(STAB2):c.7458C>A (p.Asn2486Lys)	NT5DC3, STAB2 (N2486K)	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 3323008	NM_017564.10(STAB2):c.6533A>C (p.Asn2178Thr)	NT5DC3, STAB2 (N2178T)	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 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 2621391	NM_017564.10(STAB2):c.6388G>A (p.Gly2130Ser)	NT5DC3, STAB2 (G2130S)	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 2594995	NM_017564.10(STAB2):c.6781G>A (p.Ala2261Thr)	NT5DC3, STAB2 (A2261T)	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 2525467	NM_017564.10(STAB2):c.6754G>A (p.Gly2252Arg)	NT5DC3, STAB2 (G2252R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510382	NM_017564.10(STAB2):c.7466C>A (p.Thr2489Lys)	NT5DC3, STAB2 (T2489K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493595	NM_017564.10(STAB2):c.6733T>C (p.Ser2245Pro)	NT5DC3, STAB2 (S2245P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483942	NM_017564.10(STAB2):c.6574T>G (p.Phe2192Val)	NT5DC3, STAB2 (F2192V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408320	NM_017564.10(STAB2):c.6667G>A (p.Glu2223Lys)	NT5DC3, STAB2 (E2223K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406433	NM_001031701.3(NT5DC3):c.128T>G (p.Leu43Trp)	LOC130008588, NT5DC3 (L43W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406432	NM_001031701.3(NT5DC3):c.127T>G (p.Leu43Val)	LOC130008588, NT5DC3 (L43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403998	NM_017564.10(STAB2):c.7345C>T (p.Pro2449Ser)	NT5DC3, STAB2 (P2449S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372045	NM_017564.10(STAB2):c.7357G>A (p.Val2453Met)	NT5DC3, STAB2 (V2453M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2348329	NM_017564.10(STAB2):c.6258C>G (p.Cys2086Trp)	NT5DC3, STAB2 (C2086W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327316	NM_017564.10(STAB2):c.6744G>T (p.Trp2248Cys)	NT5DC3, STAB2 (W2248C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326661	NM_017564.10(STAB2):c.7237C>T (p.Pro2413Ser)	NT5DC3, STAB2 (P2413S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322007	NM_017564.10(STAB2):c.7534G>A (p.Glu2512Lys)	NT5DC3, STAB2 (E2512K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309221	NM_017564.10(STAB2):c.7406T>C (p.Ile2469Thr)	NT5DC3, STAB2 (I2469T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296319	NM_017564.10(STAB2):c.7184C>T (p.Thr2395Ile)	NT5DC3, STAB2 (T2395I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289230	NM_017564.10(STAB2):c.6769C>A (p.Pro2257Thr)	NT5DC3, STAB2 (P2257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288232	NM_001031701.3(NT5DC3):c.632C>A (p.Thr211Lys)	LOC132089968, NT5DC3 (T211K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267538	NM_017564.10(STAB2):c.7120C>T (p.Arg2374Trp)	NT5DC3, STAB2 (R2374W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251803	NM_017564.10(STAB2):c.6235A>G (p.Thr2079Ala)	NT5DC3, STAB2 (T2079A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212843	NM_017564.10(STAB2):c.6517C>T (p.Arg2173Cys)	NT5DC3, STAB2 (R2173C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209976	NM_017564.10(STAB2):c.7258A>G (p.Arg2420Gly)	NT5DC3, STAB2 (R2420G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1235199	NM_017564.10(STAB2):c.6880+6C>T	NT5DC3, STAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 776744	NM_017564.10(STAB2):c.6546T>C (p.His2182=)	NT5DC3, STAB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770778	NM_017564.10(STAB2):c.6367G>A (p.Glu2123Lys)	STAB2, NT5DC3 (E2123K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 769830	NM_017564.10(STAB2):c.6508C>T (p.Pro2170Ser)	NT5DC3, STAB2 (P2170S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 751097	NM_017564.10(STAB2):c.7134C>T (p.His2378=)	NT5DC3, STAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735560	NM_017564.10(STAB2):c.6768C>T (p.Tyr2256=)	NT5DC3, STAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731566	NM_017564.10(STAB2):c.6552C>T (p.Asp2184=)	NT5DC3, STAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724639	NM_017564.10(STAB2):c.6387C>T (p.Asp2129=)	NT5DC3, STAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720485	NM_017564.10(STAB2):c.7161C>G (p.Phe2387Leu)	NT5DC3, STAB2 (F2387L)	Single nucleotide variant (missense variant)	not provided	GBenign

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Links from Gene

Items: 57