ClinVar for Gene (Select 22904) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3158081	NM_014963.3(SBNO2):c.97G>A (p.Ala33Thr)	SBNO2 (A33T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158080	NM_014963.3(SBNO2):c.962G>A (p.Arg321Gln)	SBNO2 (R264Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158079	NM_014963.3(SBNO2):c.895G>A (p.Gly299Ser)	SBNO2 (G299S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158078	NM_014963.3(SBNO2):c.892C>T (p.Arg298Cys)	SBNO2 (R241C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158077	NM_014963.3(SBNO2):c.530G>A (p.Ser177Asn)	SBNO2 (S120N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158076	NM_014963.3(SBNO2):c.475G>A (p.Glu159Lys)	SBNO2 (E159K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158075	NM_014963.3(SBNO2):c.447C>G (p.Phe149Leu)	SBNO2 (F92L +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 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 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 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 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 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 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 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 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 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 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 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 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 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 3158058	NM_014963.3(SBNO2):c.159C>G (p.Ser53Arg)	SBNO2 (S53R)	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 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 3062384	GRCh37/hg19 19p13.3(chr19:260911-1210337)x1	ABCA7, ARHGAP45 +37 more	Copy number loss	not specified	GPathogenic
Select item 3062378	GRCh37/hg19 19p13.3(chr19:352288-1186507)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2648907	NM_014963.3(SBNO2):c.280-4376C>T	SBNO2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648906	NM_014963.3(SBNO2):c.375G>T (p.Pro125=)	SBNO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648905	NM_014963.3(SBNO2):c.726G>A (p.Ser242=)	SBNO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648904	NM_014963.3(SBNO2):c.1497C>T (p.Phe499=)	SBNO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648903	NM_014963.3(SBNO2):c.1587C>G (p.Arg529=)	SBNO2	Single nucleotide variant (synonymous variant)	not provided	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 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 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 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 2606188	NM_014963.3(SBNO2):c.506T>C (p.Leu169Pro)	SBNO2 (L169P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598290	NM_014963.3(SBNO2):c.170C>T (p.Pro57Leu)	SBNO2 (P57L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598178	NM_014963.3(SBNO2):c.53C>T (p.Pro18Leu)	SBNO2 (P18L)	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 2595464	NM_014963.3(SBNO2):c.922G>A (p.Val308Ile)	SBNO2 (V251I +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 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 2560834	NM_014963.3(SBNO2):c.424C>T (p.Pro142Ser)	SBNO2 (P142S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2559718	NM_014963.3(SBNO2):c.185C>T (p.Ala62Val)	SBNO2 (A62V)	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 2551767	NM_014963.3(SBNO2):c.559G>A (p.Glu187Lys)	SBNO2 (E130K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549177	NM_014963.3(SBNO2):c.710C>A (p.Thr237Asn)	SBNO2 (T237N +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 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 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 2533942	NM_014963.3(SBNO2):c.284C>A (p.Ser95Tyr)	SBNO2 (S38Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533941	NM_014963.3(SBNO2):c.283T>G (p.Ser95Ala)	SBNO2 (S38A +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 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 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 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 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 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 2509496	NM_014963.3(SBNO2):c.5T>G (p.Leu2Arg)	SBNO2 (L2R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508708	NM_014963.3(SBNO2):c.137C>T (p.Pro46Leu)	SBNO2 (P46L)	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 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 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 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 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 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 2480115	NM_014963.3(SBNO2):c.227C>T (p.Ala76Val)	SBNO2 (A76V)	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 2473392	NM_014963.3(SBNO2):c.826A>C (p.Ile276Leu)	SBNO2 (I219L +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 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 2464369	NM_014963.3(SBNO2):c.985G>A (p.Ala329Thr)	SBNO2 (A272T +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 2455268	NM_014963.3(SBNO2):c.539G>A (p.Ser180Asn)	SBNO2 (S123N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ABCA7, ABHD17A +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	NDUFS7, ONECUT3 +61 more	Duplication	Cyclical neutropenia +1 more	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	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 2410186	NM_014963.3(SBNO2):c.273T>G (p.Phe91Leu)	SBNO2 (F91L)	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 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 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 2393661	NM_014963.3(SBNO2):c.736G>T (p.Ala246Ser)	SBNO2 (A246S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392728	NM_014963.3(SBNO2):c.566A>T (p.Glu189Val)	SBNO2 (E132V +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 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 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 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 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 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 2366816	NM_014963.3(SBNO2):c.1108C>T (p.Arg370Trp)	SBNO2 (R313W +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 2346341	NM_014963.3(SBNO2):c.217A>G (p.Thr73Ala)	SBNO2 (T73A)	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 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 2337470	NM_014963.3(SBNO2):c.3862G>A (p.Val1288Ile)	SBNO2 (V1231I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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