ABCC11[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 148231	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 148087	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3	ABCC11, ABCC12 +209 more	Copy number gain	See cases	GPathogenic
Select item 59468	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1	ABCC11, ABCC12 +202 more	Copy number loss	See cases	GPathogenic
Select item 59467	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1	ABCC11, ABCC12 +204 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	ABCC11, ABCC12 +209 more	Copy number loss	See cases	GPathogenic
Select item 59487	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 221521	GRCh38/hg38 16q12.1(chr16:47497444-48230506)x1	ABCC11, ABCC12 +14 more	Copy number loss	Breast ductal adenocarcinoma	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 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 768777	NM_001370497.1(ABCC11):c.3984C>T (p.Thr1328=)	ABCC11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3559	NM_001370497.1(ABCC11):c.3939_3965del (p.Asp1313_Arg1321del)	ABCC11	Deletion (inframe_deletion)	Apocrine gland secretion, variation in	GAffects
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 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 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 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 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 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 2242861	NM_001370497.1(ABCC11):c.3811G>T (p.Val1271Leu)	ABCC11 (V1273L +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 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 729030	NM_001370497.1(ABCC11):c.3778-5C>T	ABCC11	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 2245767	NM_001370497.1(ABCC11):c.3653T>A (p.Leu1218His)	ABCC11 (L1218H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 2227974	NM_001370497.1(ABCC11):c.3497G>A (p.Arg1166His)	ABCC11 (R1166H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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 709792	NM_001370497.1(ABCC11):c.3193G>A (p.Val1065Met)	ABCC11 (V1065M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2234567	NM_001370497.1(ABCC11):c.3032C>T (p.Ser1011Phe)	ABCC11 (S1013F +1 more)	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 782017	NM_001370497.1(ABCC11):c.2908A>G (p.Met970Val)	ABCC11 (M972V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1048955	NM_001370497.1(ABCC11):c.2838A>T (p.Leu946Phe)	ABCC11 (L946F +1 more)	Single nucleotide variant (missense variant)	not provided	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 2230295	NM_001370497.1(ABCC11):c.2752C>T (p.Arg918Trp)	ABCC11 (R918W +1 more)	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 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 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 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 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 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 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 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 2212343	NM_001370497.1(ABCC11):c.2504C>T (p.Ser835Leu)	ABCC11 (S835L +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
Select item 708119	NM_001370497.1(ABCC11):c.2437G>A (p.Val813Met)	ABCC11 (V815M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 787444	NM_001370497.1(ABCC11):c.2409C>T (p.Tyr803=)	ABCC11	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2277792	NM_001370497.1(ABCC11):c.2305G>C (p.Gly769Arg)	ABCC11 (G769R)	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 2620840	NM_001370497.1(ABCC11):c.2260G>C (p.Val754Leu)	ABCC11 (V754L)	Single nucleotide variant (missense variant)	not specified	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 3127528	NM_001370497.1(ABCC11):c.2198T>G (p.Met733Arg)	ABCC11 (M733R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205934	NM_001370497.1(ABCC11):c.2165A>T (p.Lys722Ile)	ABCC11 (K722I)	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 2351901	NM_001370497.1(ABCC11):c.2084A>G (p.Tyr695Cys)	ABCC11 (Y695C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219400	NM_001370497.1(ABCC11):c.1955G>A (p.Arg652His)	ABCC11 (R652H)	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 1049993	NM_001370497.1(ABCC11):c.1936C>T (p.Arg646Cys)	ABCC11 (R646C)	Single nucleotide variant (missense variant)	not provided	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 713604	NM_001370497.1(ABCC11):c.1888C>T (p.Arg630Trp)	ABCC11 (R630W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2255932	NM_001370497.1(ABCC11):c.1808A>G (p.Tyr603Cys)	ABCC11 (Y603C)	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 2401191	NM_001370497.1(ABCC11):c.1693G>A (p.Glu565Lys)	ABCC11 (E565K)	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 779014	NM_001370497.1(ABCC11):c.1657C>T (p.Leu553=)	ABCC11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1270861	NM_001370497.1(ABCC11):c.1637C>T (p.Thr546Met)	ABCC11 (T546M)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2646498	NM_001370497.1(ABCC11):c.1560G>A (p.Gly520=)	ABCC11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 779015	NM_001370497.1(ABCC11):c.1471G>A (p.Val491Ile)	ABCC11 (V491I)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2230597	NM_001370497.1(ABCC11):c.1386C>A (p.Phe462Leu)	ABCC11 (F462L)	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 2216543	NM_001370497.1(ABCC11):c.1319G>A (p.Gly440Asp)	ABCC11 (G440D)	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 790704	NM_001370497.1(ABCC11):c.1242G>A (p.Ala414=)	ABCC11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1049104	NM_001370497.1(ABCC11):c.1166C>A (p.Thr389Asn)	ABCC11 (T389N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2207055	NM_001370497.1(ABCC11):c.1138G>A (p.Gly380Arg)	ABCC11 (G380R)	Single nucleotide variant (missense variant)	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 2225931	NM_001370497.1(ABCC11):c.1013G>A (p.Arg338His)	ABCC11 (R338H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242649	NM_001370497.1(ABCC11):c.874A>G (p.Ser292Gly)	ABCC11 (S292G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1048993	NM_001370497.1(ABCC11):c.856G>A (p.Ala286Thr)	ABCC11 (A286T)	Single nucleotide variant (missense variant)	not provided	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 2353869	NM_001370497.1(ABCC11):c.836C>T (p.Pro279Leu)	ABCC11 (P279L)	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 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

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