ClinVar for Gene (Select 25956) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317166	NM_015490.4(SEC31B):c.2395C>T (p.Pro799Ser)	SEC31B (P799S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317165	NM_015490.4(SEC31B):c.3508G>A (p.Val1170Ile)	SEC31B (V1170I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317164	NM_015490.4(SEC31B):c.1898A>G (p.Asp633Gly)	SEC31B (D633G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317163	NM_015490.4(SEC31B):c.284G>A (p.Gly95Asp)	SEC31B (G95D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317162	NM_015490.4(SEC31B):c.3496A>C (p.Ile1166Leu)	SEC31B (I1166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317161	NM_015490.4(SEC31B):c.2686G>T (p.Val896Leu)	SEC31B (V896L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317160	NM_015490.4(SEC31B):c.521T>G (p.Leu174Arg)	SEC31B (L174R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317159	NM_015490.4(SEC31B):c.972C>G (p.Phe324Leu)	SEC31B (F324L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317157	NM_015490.4(SEC31B):c.2719A>C (p.Thr907Pro)	SEC31B (T907P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317156	NM_015490.4(SEC31B):c.862C>T (p.Arg288Trp)	SEC31B (R288W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3317155	NM_015490.4(SEC31B):c.404A>G (p.Asn135Ser)	SEC31B (N135S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159379	NM_015490.4(SEC31B):c.976G>A (p.Gly326Ser)	SEC31B (G326S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159378	NM_015490.4(SEC31B):c.887T>C (p.Val296Ala)	SEC31B (V296A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159377	NM_015490.4(SEC31B):c.847A>G (p.Ser283Gly)	SEC31B (S283G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159376	NM_015490.4(SEC31B):c.532C>T (p.Arg178Trp)	SEC31B (R178W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159375	NM_015490.4(SEC31B):c.3521C>T (p.Ala1174Val)	SEC31B (A1174V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159374	NM_015490.4(SEC31B):c.3411T>G (p.Asp1137Glu)	SEC31B (D1137E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159373	NM_015490.4(SEC31B):c.289C>G (p.Leu97Val)	SEC31B (L97V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159372	NM_015490.4(SEC31B):c.2899C>T (p.Pro967Ser)	SEC31B (P967S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159370	NM_015490.4(SEC31B):c.2771G>A (p.Arg924Gln)	SEC31B (R924Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3159369	NM_015490.4(SEC31B):c.2750T>C (p.Met917Thr)	SEC31B (M917T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159368	NM_015490.4(SEC31B):c.2339T>G (p.Leu780Arg)	SEC31B (L780R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159367	NM_015490.4(SEC31B):c.2278G>A (p.Ala760Thr)	SEC31B (A760T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159366	NM_015490.4(SEC31B):c.224G>C (p.Gly75Ala)	SEC31B (G75A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159365	NM_015490.4(SEC31B):c.2006G>T (p.Arg669Leu)	SEC31B (R669L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159364	NM_015490.4(SEC31B):c.1916G>T (p.Ser639Ile)	SEC31B (S639I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159363	NM_015490.4(SEC31B):c.1517T>C (p.Leu506Pro)	SEC31B (L506P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159362	NM_015490.4(SEC31B):c.130G>A (p.Glu44Lys)	SEC31B (E44K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159361	NM_015490.4(SEC31B):c.1249C>T (p.Arg417Cys)	SEC31B (R417C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159360	NM_015490.4(SEC31B):c.1211C>G (p.Pro404Arg)	SEC31B (P404R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159359	NM_015490.4(SEC31B):c.1111G>A (p.Ala371Thr)	SEC31B (A371T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2684617	GRCh37/hg19 10q24.31(chr10:102205412-102516321)x3	HIF1AN, NDUFB8 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2640757	NM_015490.4(SEC31B):c.3331T>C (p.Tyr1111His)	SEC31B (Y1111H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2619578	NM_015490.4(SEC31B):c.2272G>A (p.Ala758Thr)	SEC31B (A758T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609280	NM_015490.4(SEC31B):c.2700C>G (p.Asn900Lys)	SEC31B (N900K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601901	NM_015490.4(SEC31B):c.740G>A (p.Arg247His)	SEC31B (R247H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594853	NM_015490.4(SEC31B):c.2782A>G (p.Thr928Ala)	SEC31B (T928A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2546802	NM_015490.4(SEC31B):c.298T>A (p.Tyr100Asn)	SEC31B (Y100N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546353	NM_015490.4(SEC31B):c.1796G>A (p.Gly599Glu)	SEC31B (G599E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545639	NM_015490.4(SEC31B):c.3490A>C (p.Met1164Leu)	SEC31B (M1164L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543180	NM_015490.4(SEC31B):c.3092A>G (p.Gln1031Arg)	SEC31B (Q1031R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2536639	NM_015490.4(SEC31B):c.3143C>G (p.Pro1048Arg)	SEC31B (P1048R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534872	NM_015490.4(SEC31B):c.2755T>C (p.Cys919Arg)	SEC31B (C919R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527532	NM_015490.4(SEC31B):c.1497G>T (p.Trp499Cys)	SEC31B (W499C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526936	NM_015490.4(SEC31B):c.400G>A (p.Gly134Ser)	SEC31B (G134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523751	NM_015490.4(SEC31B):c.499C>G (p.Pro167Ala)	SEC31B (P167A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517074	NM_015490.4(SEC31B):c.1073C>T (p.Pro358Leu)	SEC31B (P358L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516483	NM_015490.4(SEC31B):c.1025A>G (p.His342Arg)	SEC31B (H342R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508828	NM_015490.4(SEC31B):c.23G>A (p.Arg8Gln)	SEC31B (R8Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508525	NM_015490.4(SEC31B):c.2363T>C (p.Val788Ala)	SEC31B (V788A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495958	NM_015490.4(SEC31B):c.2878A>G (p.Ser960Gly)	SEC31B (S960G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487550	NM_015490.4(SEC31B):c.550C>G (p.Leu184Val)	SEC31B (L184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487514	NM_015490.4(SEC31B):c.1942G>T (p.Ala648Ser)	SEC31B (A648S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481948	NM_015490.4(SEC31B):c.2359G>A (p.Ala787Thr)	SEC31B (A787T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466970	NM_015490.4(SEC31B):c.3044C>T (p.Pro1015Leu)	SEC31B (P1015L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466913	NM_015490.4(SEC31B):c.2644A>G (p.Arg882Gly)	SEC31B (R882G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461274	NM_015490.4(SEC31B):c.2507C>A (p.Thr836Asn)	SEC31B (T836N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459024	NM_015490.4(SEC31B):c.289C>T (p.Leu97Phe)	SEC31B (L97F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	GUncertain significance
Select item 2411286	NM_015490.4(SEC31B):c.718G>A (p.Val240Met)	SEC31B (V240M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404132	NM_015490.4(SEC31B):c.3278C>T (p.Ala1093Val)	SEC31B (A1093V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403176	NM_015490.4(SEC31B):c.2746C>T (p.Pro916Ser)	SEC31B (P916S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402777	NM_015490.4(SEC31B):c.2834T>C (p.Leu945Pro)	SEC31B (L945P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2390818	NM_015490.4(SEC31B):c.1822C>G (p.Gln608Glu)	SEC31B (Q608E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386905	NM_015490.4(SEC31B):c.3009C>A (p.Asn1003Lys)	SEC31B (N1003K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379063	NM_015490.4(SEC31B):c.3475G>A (p.Glu1159Lys)	SEC31B (E1159K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377974	NM_015490.4(SEC31B):c.1144A>G (p.Lys382Glu)	SEC31B (K382E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377941	NM_015490.4(SEC31B):c.3043C>T (p.Pro1015Ser)	SEC31B (P1015S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377781	NM_015490.4(SEC31B):c.488A>T (p.Lys163Met)	SEC31B (K163M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373626	NM_015490.4(SEC31B):c.2311C>T (p.Pro771Ser)	SEC31B (P771S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371505	NM_015490.4(SEC31B):c.3465C>G (p.Ser1155Arg)	SEC31B (S1155R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369128	NM_015490.4(SEC31B):c.323C>T (p.Ser108Leu)	SEC31B (S108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358132	NM_015490.4(SEC31B):c.3520G>A (p.Ala1174Thr)	SEC31B (A1174T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354517	NM_015490.4(SEC31B):c.2845C>T (p.Arg949Cys)	SEC31B (R949C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352035	NM_015490.4(SEC31B):c.1828C>T (p.Arg610Cys)	SEC31B (R610C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2348821	NM_015490.4(SEC31B):c.2404G>T (p.Val802Phe)	SEC31B (V802F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346181	NM_015490.4(SEC31B):c.304G>C (p.Val102Leu)	SEC31B (V102L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339210	NM_015490.4(SEC31B):c.2641G>A (p.Val881Ile)	SEC31B (V881I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331554	NM_015490.4(SEC31B):c.2276C>T (p.Thr759Ile)	SEC31B (T759I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328382	NM_015490.4(SEC31B):c.2702C>T (p.Pro901Leu)	SEC31B (P901L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327946	NM_015490.4(SEC31B):c.2408T>A (p.Val803Glu)	SEC31B (V803E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312095	NM_015490.4(SEC31B):c.613A>G (p.Ile205Val)	SEC31B (I205V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311729	NM_015490.4(SEC31B):c.3365C>T (p.Ser1122Leu)	SEC31B (S1122L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307648	NM_015490.4(SEC31B):c.1106C>T (p.Ala369Val)	SEC31B (A369V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298979	NM_015490.4(SEC31B):c.3517A>G (p.Ile1173Val)	SEC31B (I1173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295866	NM_015490.4(SEC31B):c.998T>C (p.Val333Ala)	SEC31B (V333A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291824	NM_015490.4(SEC31B):c.2807T>C (p.Leu936Pro)	SEC31B (L936P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285901	NM_015490.4(SEC31B):c.2401A>G (p.Ile801Val)	SEC31B (I801V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2284669	NM_015490.4(SEC31B):c.3139C>A (p.Pro1047Thr)	SEC31B (P1047T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284638	NM_015490.4(SEC31B):c.3143C>T (p.Pro1048Leu)	SEC31B (P1048L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273900	NM_015490.4(SEC31B):c.3214C>T (p.Pro1072Ser)	SEC31B (P1072S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267964	NM_015490.4(SEC31B):c.1492A>G (p.Thr498Ala)	SEC31B (T498A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265889	NM_015490.4(SEC31B):c.3097A>T (p.Ile1033Phe)	SEC31B (I1033F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264641	NM_015490.4(SEC31B):c.334C>T (p.Pro112Ser)	SEC31B (P112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258017	NM_015490.4(SEC31B):c.695G>A (p.Cys232Tyr)	SEC31B (C232Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251151	NM_015490.4(SEC31B):c.2810T>C (p.Phe937Ser)	SEC31B (F937S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 815373	GRCh37/hg19 10q24.31(chr10:101932457-102392841)x3	WNT8B, NDUFB8 +9 more	Copy number gain	not provided	GUncertain significance

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