SBNO2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC116276498, LOC121627842 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
Select item 147565	GRCh38/hg38 19p13.3(chr19:786550-1297500)x1	ABCA7, ARHGAP45 +136 more	Copy number loss	See cases	GPathogenic
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 151474	GRCh38/hg38 19p13.3(chr19:1039558-1161676)x3	ABCA7, ARHGAP45 +25 more	Copy number gain	See cases	GLikely benign
Select item 152546	GRCh38/hg38 19p13.3(chr19:1102684-1161676)x3	GPX4, LOC130062883 +5 more	Copy number gain	See cases	GBenign
Select item 151453	GRCh38/hg38 19p13.3(chr19:1102684-1144297)x3	GPX4, LOC130062883 +5 more	Copy number gain	See cases	GBenign
Select item 2547976	NM_014963.3(SBNO2):c.4091C>G (p.Ala1364Gly)	SBNO2 (A1364G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158074	NM_014963.3(SBNO2):c.4073C>T (p.Pro1358Leu)	SBNO2 (P1358L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455401	NM_014963.3(SBNO2):c.4057A>T (p.Ile1353Phe)	SBNO2 (I1296F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325255	NM_014963.3(SBNO2):c.4009G>A (p.Ala1337Thr)	SBNO2 (A1337T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322714	NM_014963.3(SBNO2):c.3982C>T (p.Pro1328Ser)	SBNO2 (P1271S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375637	NM_014963.3(SBNO2):c.3974C>G (p.Ala1325Gly)	SBNO2 (A1325G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158072	NM_014963.3(SBNO2):c.3941A>T (p.Glu1314Val)	SBNO2 (E1314V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258673	NM_014963.3(SBNO2):c.3902C>A (p.Ala1301Glu)	SBNO2 (A1301E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271091	NM_014963.3(SBNO2):c.3878C>A (p.Thr1293Asn)	SBNO2 (T1236N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337470	NM_014963.3(SBNO2):c.3862G>A (p.Val1288Ile)	SBNO2 (V1231I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359665	NM_014963.3(SBNO2):c.3857C>G (p.Pro1286Arg)	SBNO2 (P1229R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615147	NM_014963.3(SBNO2):c.3856C>T (p.Pro1286Ser)	SBNO2 (P1229S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543767	NM_014963.3(SBNO2):c.3854G>A (p.Gly1285Asp)	SBNO2 (G1228D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406611	NM_014963.3(SBNO2):c.3854G>T (p.Gly1285Val)	SBNO2 (G1285V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530309	NM_014963.3(SBNO2):c.3851C>T (p.Ala1284Val)	SBNO2 (A1284V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373413	NM_014963.3(SBNO2):c.3829C>T (p.Pro1277Ser)	SBNO2 (P1277S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158071	NM_014963.3(SBNO2):c.3824C>G (p.Ser1275Cys)	SBNO2 (S1218C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596754	NM_014963.3(SBNO2):c.3820T>G (p.Phe1274Val)	SBNO2 (F1217V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158070	NM_014963.3(SBNO2):c.3791C>T (p.Pro1264Leu)	SBNO2 (P1207L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549096	NM_014963.3(SBNO2):c.3752G>A (p.Cys1251Tyr)	SBNO2 (C1194Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564376	NM_014963.3(SBNO2):c.3703G>A (p.Ala1235Thr)	SBNO2 (A1235T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262965	NM_014963.3(SBNO2):c.3593C>G (p.Thr1198Ser)	SBNO2 (T1141S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490501	NM_014963.3(SBNO2):c.3440G>A (p.Arg1147Gln)	SBNO2 (R1090Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258672	NM_014963.3(SBNO2):c.3439C>T (p.Arg1147Trp)	SBNO2 (R1090W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399514	NM_014963.3(SBNO2):c.3431G>A (p.Arg1144Gln)	SBNO2 (R1087Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590593	NM_014963.3(SBNO2):c.3379G>A (p.Glu1127Lys)	SBNO2 (E1070K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511698	NM_014963.3(SBNO2):c.3299G>A (p.Arg1100Gln)	SBNO2 (R1100Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158069	NM_014963.3(SBNO2):c.3275C>T (p.Thr1092Met)	SBNO2 (T1035M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339735	NM_014963.3(SBNO2):c.3232C>T (p.Pro1078Ser)	SBNO2 (P1021S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275444	NM_014963.3(SBNO2):c.3195C>A (p.Asp1065Glu)	SBNO2 (D1065E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 559570	NM_014963.3(SBNO2):c.3177_3189dup (p.Tyr1064fs)	SBNO2 (Y1007fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3158068	NM_014963.3(SBNO2):c.3188C>A (p.Pro1063His)	SBNO2 (P1006H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385986	NM_014963.3(SBNO2):c.3182C>T (p.Thr1061Met)	SBNO2 (T1004M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158067	NM_014963.3(SBNO2):c.3175G>A (p.Ala1059Thr)	SBNO2 (A1059T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225414	NM_014963.3(SBNO2):c.3126C>G (p.Ile1042Met)	SBNO2 (I1042M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491827	NM_014963.3(SBNO2):c.3103G>A (p.Gly1035Arg)	SBNO2 (G1035R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158066	NM_014963.3(SBNO2):c.3051G>C (p.Glu1017Asp)	SBNO2 (E1017D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526093	NM_014963.3(SBNO2):c.3046G>A (p.Glu1016Lys)	SBNO2 (E959K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507696	NM_014963.3(SBNO2):c.3040G>A (p.Gly1014Ser)	SBNO2 (G957S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338411	NM_014963.3(SBNO2):c.2976C>G (p.Asp992Glu)	SBNO2 (D992E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267035	NM_014963.3(SBNO2):c.2974G>A (p.Asp992Asn)	SBNO2 (D992N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617513	NM_014963.3(SBNO2):c.2870T>C (p.Leu957Pro)	SBNO2 (L957P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158065	NM_014963.3(SBNO2):c.2855C>T (p.Ser952Phe)	SBNO2 (S895F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158064	NM_014963.3(SBNO2):c.2811C>A (p.Asp937Glu)	SBNO2 (D880E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471919	NM_014963.3(SBNO2):c.2791G>C (p.Val931Leu)	SBNO2 (V931L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247755	NM_014963.3(SBNO2):c.2789G>C (p.Gly930Ala)	SBNO2 (G873A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411567	NM_014963.3(SBNO2):c.2761G>A (p.Val921Met)	SBNO2 (V864M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312401	NM_014963.3(SBNO2):c.2732C>A (p.Thr911Asn)	SBNO2 (T911N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303466	NM_014963.3(SBNO2):c.2650C>T (p.Arg884Cys)	SBNO2 (R884C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488433	NM_014963.3(SBNO2):c.2545G>A (p.Ala849Thr)	SBNO2 (A849T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158063	NM_014963.3(SBNO2):c.2510A>C (p.Gln837Pro)	SBNO2 (Q780P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493552	NM_014963.3(SBNO2):c.2450A>G (p.Gln817Arg)	SBNO2 (Q817R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1232965	NM_014963.3(SBNO2):c.2253C>G (p.Thr751=)	SBNO2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2378067	NM_014963.3(SBNO2):c.2252C>G (p.Thr751Ser)	SBNO2 (T751S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553860	NM_014963.3(SBNO2):c.2179C>T (p.Arg727Trp)	SBNO2 (R670W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533673	NM_014963.3(SBNO2):c.2160C>A (p.Asp720Glu)	SBNO2 (D720E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278330	NM_014963.3(SBNO2):c.2114C>T (p.Pro705Leu)	SBNO2 (P705L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158062	NM_014963.3(SBNO2):c.2101G>A (p.Asp701Asn)	SBNO2 (D644N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239239	NM_014963.3(SBNO2):c.2089C>T (p.Leu697Phe)	SBNO2 (L640F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512783	NM_014963.3(SBNO2):c.2066G>T (p.Ser689Ile)	SBNO2 (S632I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473524	NM_014963.3(SBNO2):c.2035G>A (p.Val679Ile)	SBNO2 (V679I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299511	NM_014963.3(SBNO2):c.2032G>A (p.Asp678Asn)	SBNO2 (D621N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254206	NM_014963.3(SBNO2):c.2029G>A (p.Asp677Asn)	SBNO2 (D677N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158061	NM_014963.3(SBNO2):c.2003A>C (p.Asn668Thr)	SBNO2 (N611T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648901	NM_014963.3(SBNO2):c.1971G>A (p.Thr657=)	SBNO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623817	NM_014963.3(SBNO2):c.1936G>A (p.Ala646Thr)	SBNO2 (A589T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206771	NM_014963.3(SBNO2):c.1925C>T (p.Ala642Val)	SBNO2 (A642V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467777	NM_014963.3(SBNO2):c.1889G>A (p.Arg630Gln)	SBNO2 (R573Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508079	NM_014963.3(SBNO2):c.1784G>A (p.Cys595Tyr)	SBNO2 (C538Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158060	NM_014963.3(SBNO2):c.1776C>A (p.His592Gln)	SBNO2 (H592Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2648902	NM_014963.3(SBNO2):c.1743C>T (p.Arg581=)	SBNO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3158059	NM_014963.3(SBNO2):c.1694C>T (p.Ala565Val)	SBNO2 (A565V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385040	NM_014963.3(SBNO2):c.1661G>A (p.Arg554His)	SBNO2 (R554H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2239906	NM_014963.3(SBNO2):c.1657G>A (p.Val553Met)	SBNO2 (V553M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648903	NM_014963.3(SBNO2):c.1587C>G (p.Arg529=)	SBNO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2304247	NM_014963.3(SBNO2):c.1574G>T (p.Gly525Val)	SBNO2 (G525V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158057	NM_014963.3(SBNO2):c.1556A>G (p.Gln519Arg)	SBNO2 (Q462R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158056	NM_014963.3(SBNO2):c.1513C>T (p.Arg505Cys)	SBNO2 (R448C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648904	NM_014963.3(SBNO2):c.1497C>T (p.Phe499=)	SBNO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3158055	NM_014963.3(SBNO2):c.1432G>A (p.Ala478Thr)	SBNO2 (A478T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388940	NM_014963.3(SBNO2):c.1378G>A (p.Val460Ile)	SBNO2 (V460I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294258	NM_014963.3(SBNO2):c.1337G>A (p.Arg446Gln)	SBNO2 (R389Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520087	NM_014963.3(SBNO2):c.1293C>G (p.Ile431Met)	SBNO2 (I374M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205950	NM_014963.3(SBNO2):c.1255G>A (p.Ala419Thr)	SBNO2 (A419T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404741	NM_014963.3(SBNO2):c.1208C>T (p.Ala403Val)	SBNO2 (A403V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307532	NM_014963.3(SBNO2):c.1150A>G (p.Ile384Val)	SBNO2 (I327V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151460	GRCh38/hg38 19p13.3(chr19:1121304-1161676)x3	SBNO2	Copy number gain	See cases	GBenign

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