ClinVar for Gene (Select 85320) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3297496	NM_001370497.1(ABCC11):c.253C>G (p.Pro85Ala)	ABCC11 (P85A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297432	NM_001370497.1(ABCC11):c.532G>A (p.Val178Ile)	ABCC11 (V178I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297360	NM_001370497.1(ABCC11):c.1204G>C (p.Val402Leu)	ABCC11 (V402L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297284	NM_001370497.1(ABCC11):c.1117A>G (p.Arg373Gly)	ABCC11 (R373G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297208	NM_001370497.1(ABCC11):c.3028A>C (p.Ser1010Arg)	ABCC11 (S1010R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297133	NM_001370497.1(ABCC11):c.413A>G (p.Glu138Gly)	ABCC11 (E138G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297042	NM_001370497.1(ABCC11):c.2372G>A (p.Arg791Lys)	ABCC11 (R793K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297024	NM_001370497.1(ABCC11):c.2770G>T (p.Ala924Ser)	ABCC11 (A926S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3296918	NM_001370497.1(ABCC11):c.928T>A (p.Tyr310Asn)	ABCC11 (Y310N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296817	NM_001370497.1(ABCC11):c.1903T>G (p.Ser635Ala)	ABCC11 (S635A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296729	NM_001370497.1(ABCC11):c.3482T>C (p.Ile1161Thr)	ABCC11 (I1161T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296630	NM_001370497.1(ABCC11):c.2293G>A (p.Glu765Lys)	ABCC11 (E765K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296528	NM_001370497.1(ABCC11):c.857C>T (p.Ala286Val)	ABCC11 (A286V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296428	NM_001370497.1(ABCC11):c.3637G>A (p.Asp1213Asn)	ABCC11 (D1213N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296378	NM_001370497.1(ABCC11):c.2803C>T (p.Pro935Ser)	ABCC11 (P935S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296348	NM_001370497.1(ABCC11):c.1171T>C (p.Phe391Leu)	ABCC11 (F391L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296316	NM_001370497.1(ABCC11):c.2983C>T (p.Arg995Trp)	ABCC11 (R995W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296262	NM_001370497.1(ABCC11):c.3551T>C (p.Leu1184Ser)	ABCC11 (L1184S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296202	NM_001370497.1(ABCC11):c.2216C>T (p.Ser739Leu)	ABCC11 (S739L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296116	NM_001370497.1(ABCC11):c.1435G>A (p.Ala479Thr)	ABCC11 (A479T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291058	NM_031490.5(LONP2):c.194A>C (p.Asp65Ala)	ABCC11, LONP2 (D65A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127661	NM_001370497.1(ABCC11):c.746T>C (p.Phe249Ser)	ABCC11 (F249S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127659	NM_001370497.1(ABCC11):c.704G>A (p.Arg235Gln)	ABCC11 (R235Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127619	NM_001370497.1(ABCC11):c.3823G>A (p.Gly1275Ser)	ABCC11 (G1275S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127609	NM_001370497.1(ABCC11):c.3805A>G (p.Thr1269Ala)	ABCC11 (T1271A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3127596	NM_001370497.1(ABCC11):c.3721C>T (p.Arg1241Cys)	ABCC11 (R1241C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3127592	NM_001370497.1(ABCC11):c.3644G>A (p.Arg1215Gln)	ABCC11 (R1215Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127591	NM_001370497.1(ABCC11):c.3592C>T (p.Arg1198Trp)	ABCC11 (R1198W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127583	NM_001370497.1(ABCC11):c.3385A>T (p.Thr1129Ser)	ABCC11 (T1131S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127580	NM_001370497.1(ABCC11):c.3322G>A (p.Val1108Ile)	ABCC11 (V1110I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127570	NM_001370497.1(ABCC11):c.3218C>G (p.Pro1073Arg)	ABCC11 (P1073R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127561	NM_001370497.1(ABCC11):c.2765G>A (p.Cys922Tyr)	ABCC11 (C922Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127553	NM_001370497.1(ABCC11):c.2695C>T (p.Leu899Phe)	ABCC11 (L899F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127551	NM_001370497.1(ABCC11):c.2659G>A (p.Val887Ile)	ABCC11 (V887I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127545	NM_001370497.1(ABCC11):c.253C>A (p.Pro85Thr)	ABCC11 (P85T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127530	NM_001370497.1(ABCC11):c.2275C>A (p.Leu759Met)	ABCC11 (L759M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127528	NM_001370497.1(ABCC11):c.2198T>G (p.Met733Arg)	ABCC11 (M733R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127524	NM_001370497.1(ABCC11):c.2098G>A (p.Gly700Ser)	ABCC11 (G700S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127516	NM_001370497.1(ABCC11):c.1889G>A (p.Arg630Gln)	ABCC11 (R630Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127515	NM_001370497.1(ABCC11):c.1876G>A (p.Glu626Lys)	ABCC11 (E626K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127513	NM_001370497.1(ABCC11):c.1841G>A (p.Arg614Gln)	ABCC11 (R614Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127512	NM_001370497.1(ABCC11):c.1817T>C (p.Val606Ala)	ABCC11 (V606A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127505	NM_001370497.1(ABCC11):c.1681A>G (p.Met561Val)	ABCC11 (M561V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119520	NM_031490.5(LONP2):c.216C>A (p.Asp72Glu)	ABCC11, LONP2 (D72E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2690926	NM_001370497.1(ABCC11):c.4003C>T (p.Arg1335Cys)	ABCC11 (R1297C +2 more)	Single nucleotide variant (missense variant)	Apocrine gland secretion, variation in	GBenign
Select item 2646498	NM_001370497.1(ABCC11):c.1560G>A (p.Gly520=)	ABCC11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623299	NM_001370497.1(ABCC11):c.81G>A (p.Met27Ile)	ABCC11 (M27I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620840	NM_001370497.1(ABCC11):c.2260G>C (p.Val754Leu)	ABCC11 (V754L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617614	NM_031490.5(LONP2):c.34C>T (p.Arg12Cys)	ABCC11, LONP2 (R12C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2613422	NM_001370497.1(ABCC11):c.3804T>A (p.His1268Gln)	ABCC11 (H1268Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2607873	NM_001370497.1(ABCC11):c.1633A>G (p.Asn545Asp)	ABCC11 (N545D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604990	NM_001370497.1(ABCC11):c.2587C>G (p.Gln863Glu)	ABCC11 (Q865E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598737	NM_001370497.1(ABCC11):c.403C>T (p.Arg135Cys)	ABCC11 (R135C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594774	NM_001370497.1(ABCC11):c.1954C>T (p.Arg652Cys)	ABCC11 (R652C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591678	NM_001370497.1(ABCC11):c.3722G>A (p.Arg1241His)	ABCC11 (R1241H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588373	NM_001370497.1(ABCC11):c.673A>T (p.Ile225Phe)	ABCC11 (I225F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569254	NM_001370497.1(ABCC11):c.326G>A (p.Arg109Gln)	ABCC11 (R109Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2552430	NM_001370497.1(ABCC11):c.1339G>T (p.Ala447Ser)	ABCC11 (A447S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540676	NM_001370497.1(ABCC11):c.325C>T (p.Arg109Trp)	ABCC11 (R109W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537796	NM_001370497.1(ABCC11):c.302C>A (p.Thr101Asn)	ABCC11 (T101N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532413	NM_001370497.1(ABCC11):c.2936T>A (p.Met979Lys)	ABCC11 (M979K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530340	NM_001370497.1(ABCC11):c.3608G>A (p.Gly1203Asp)	ABCC11 (G1203D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526475	NM_001370497.1(ABCC11):c.280T>C (p.Tyr94His)	ABCC11 (Y94H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519187	NM_001370497.1(ABCC11):c.2541G>A (p.Met847Ile)	ABCC11 (M847I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513701	NM_001370497.1(ABCC11):c.206G>A (p.Arg69Lys)	ABCC11 (R69K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494744	NM_001370497.1(ABCC11):c.1246A>G (p.Met416Val)	ABCC11 (M416V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2485274	NM_001370497.1(ABCC11):c.3847A>G (p.Arg1283Gly)	ABCC11 (R1283G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463251	NM_001370497.1(ABCC11):c.1076A>G (p.Lys359Arg)	ABCC11 (K359R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422825	NC_000016.9:g.(?_46694384)_(48258199_?)dup	ABCC11, ABCC12 +9 more	Duplication	Glycogen storage disease IXb	GUncertain significance
Select item 2407192	NM_001370497.1(ABCC11):c.2226G>T (p.Leu742Phe)	ABCC11 (L742F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405777	NM_001370497.1(ABCC11):c.238T>A (p.Phe80Ile)	ABCC11 (F80I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405077	NM_001370497.1(ABCC11):c.3754G>C (p.Glu1252Gln)	ABCC11 (E1252Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403148	NM_001370497.1(ABCC11):c.622G>C (p.Ala208Pro)	ABCC11 (A208P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401191	NM_001370497.1(ABCC11):c.1693G>A (p.Glu565Lys)	ABCC11 (E565K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395187	NM_001370497.1(ABCC11):c.437T>C (p.Ile146Thr)	ABCC11 (I146T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393816	NM_001370497.1(ABCC11):c.3929T>C (p.Met1310Thr)	ABCC11 (M1312T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2390793	NM_001370497.1(ABCC11):c.1160G>A (p.Ser387Asn)	ABCC11 (S387N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388507	NM_001370497.1(ABCC11):c.3314T>A (p.Phe1105Tyr)	ABCC11 (F1107Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384662	NM_001370497.1(ABCC11):c.3953G>A (p.Arg1318His)	ABCC11 (R1318H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2381899	NM_001370497.1(ABCC11):c.1396A>G (p.Thr466Ala)	ABCC11 (T466A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376161	NM_001370497.1(ABCC11):c.685C>T (p.Arg229Cys)	ABCC11 (R229C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368563	NM_001370497.1(ABCC11):c.3952C>T (p.Arg1318Cys)	ABCC11 (R1280C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362967	NM_001370497.1(ABCC11):c.2395G>A (p.Ala799Thr)	ABCC11 (A801T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362916	NM_001370497.1(ABCC11):c.3568C>T (p.Arg1190Cys)	ABCC11 (R1190C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356786	NM_001370497.1(ABCC11):c.823G>T (p.Val275Leu)	ABCC11 (V275L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353869	NM_001370497.1(ABCC11):c.836C>T (p.Pro279Leu)	ABCC11 (P279L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351901	NM_001370497.1(ABCC11):c.2084A>G (p.Tyr695Cys)	ABCC11 (Y695C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349157	NM_001370497.1(ABCC11):c.283C>G (p.Leu95Val)	ABCC11 (L95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334517	NM_001370497.1(ABCC11):c.2714G>A (p.Arg905His)	ABCC11 (R907H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333888	NM_001370497.1(ABCC11):c.855C>G (p.Cys285Trp)	ABCC11 (C285W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331087	NM_001370497.1(ABCC11):c.4070A>C (p.Asp1357Ala)	ABCC11 (D1359A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325421	NM_001370497.1(ABCC11):c.2608G>A (p.Ala870Thr)	ABCC11 (A872T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2322830	NM_001370497.1(ABCC11):c.3962G>A (p.Arg1321His)	ABCC11 (R1283H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319167	NM_001370497.1(ABCC11):c.2665A>G (p.Arg889Gly)	ABCC11 (R889G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314642	NM_001370497.1(ABCC11):c.1703T>C (p.Val568Ala)	ABCC11 (V568A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297360	NM_001370497.1(ABCC11):c.2645G>A (p.Gly882Glu)	ABCC11 (G882E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280459	NM_001370497.1(ABCC11):c.3761C>T (p.Thr1254Ile)	ABCC11 (T1256I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277792	NM_001370497.1(ABCC11):c.2305G>C (p.Gly769Arg)	ABCC11 (G769R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264897	NM_001370497.1(ABCC11):c.3532G>A (p.Gly1178Ser)	ABCC11 (G1178S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257629	NM_001370497.1(ABCC11):c.2450T>C (p.Val817Ala)	ABCC11 (V819A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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