ClinVar for Gene (Select 6833) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381359	NM_000352.6(ABCC8):c.505T>G (p.Phe169Val)	ABCC8 (F169V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3381280	NM_000352.6(ABCC8):c.1324C>A (p.Pro442Thr)	ABCC8 (P441T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3375278	NM_000352.6(ABCC8):c.2983A>G (p.Ile995Val)	ABCC8 (I1017V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3375246	NM_000352.6(ABCC8):c.2691C>G (p.Asp897Glu)	ABCC8 (D896E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3374891	NM_000352.6(ABCC8):c.3429C>A (p.Ser1143Arg)	ABCC8 (S1142R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3374844	NM_000352.6(ABCC8):c.361G>A (p.Val121Met)	ABCC8 (V121M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3373705	NM_000352.6(ABCC8):c.1823A>G (p.Gln608Arg)	ABCC8 (Q607R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373626	NM_000352.6(ABCC8):c.2188A>G (p.Met730Val)	ABCC8 (M729V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3372281	NM_000352.6(ABCC8):c.1107A>C (p.Gln369His)	ABCC8 (Q368H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3371583	NM_000352.6(ABCC8):c.329C>T (p.Ala110Val)	ABCC8 (A110V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3371567	NM_000352.6(ABCC8):c.317T>C (p.Leu106Pro)	ABCC8 (L106P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3371554	NM_000352.6(ABCC8):c.4498A>G (p.Ser1500Gly)	ABCC8 (S1499G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3371435	NM_000352.6(ABCC8):c.4539G>T (p.Met1513Ile)	ABCC8 (M1512I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3370289	NM_000352.6(ABCC8):c.2507G>A (p.Arg836Gln)	ABCC8 (R835Q +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GLikely pathogenic
Select item 3370104	NM_000352.6(ABCC8):c.77G>A (p.Cys26Tyr)	ABCC8 (C26Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367483	NM_000352.6(ABCC8):c.1885C>T (p.Pro629Ser)	ABCC8 (P628S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3362451	NM_000352.6(ABCC8):c.1844C>G (p.Ser615Cys)	ABCC8 (S614C +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 3360486	NM_000352.6(ABCC8):c.3380A>C (p.Asp1127Ala)	ABCC8 (D1126A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359937	NM_000352.6(ABCC8):c.1448A>G (p.Gln483Arg)	ABCC8 (Q482R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3356514	NM_000352.6(ABCC8):c.1673C>A (p.Thr558Asn)	ABCC8 (T557N +1 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related disorder	GUncertain significance
Select item 3354474	NM_000352.6(ABCC8):c.4190C>T (p.Thr1397Met)	ABCC8 (T1396M +3 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related disorder	GUncertain significance
Select item 3352624	NM_000352.6(ABCC8):c.3988+9C>G	ABCC8	Single nucleotide variant (non-coding transcript variant +1 more)	ABCC8-related disorder	GUncertain significance
Select item 3347846	NM_000352.6(ABCC8):c.1333-1014G>C	ABCC8	Single nucleotide variant (intron variant)	ABCC8-related disorder	GLikely benign
Select item 3347627	NM_000352.6(ABCC8):c.4180A>T (p.Met1394Leu)	ABCC8 (M1393L +3 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related disorder	GUncertain significance
Select item 3347049	NM_000352.6(ABCC8):c.381C>G (p.Ile127Met)	ABCC8 (I127M)	Single nucleotide variant (missense variant +1 more)	ABCC8-related disorder	GUncertain significance
Select item 3344969	NM_000352.6(ABCC8):c.2041-16G>C	ABCC8	Single nucleotide variant (intron variant)	ABCC8-related disorder	GUncertain significance
Select item 3344678	NM_000352.6(ABCC8):c.4692G>T (p.Lys1564Asn)	ABCC8 (K1563N +3 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related disorder	GUncertain significance
Select item 3344048	NM_000352.6(ABCC8):c.21C>T (p.Gly7=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	ABCC8-related disorder	GLikely benign
Select item 3342320	NM_000352.6(ABCC8):c.1903G>A (p.Ala635Thr)	ABCC8 (A634T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3341095	NM_000352.6(ABCC8):c.2609C>T (p.Ala870Val)	ABCC8 (A869V +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus	GPathogenic
Select item 3340565	NM_000352.6(ABCC8):c.2139dup (p.Gln714fs)	ABCC8 (Q713fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 3339954	NM_000352.6(ABCC8):c.1468-14G>A	ABCC8	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3339600	NM_000352.6(ABCC8):c.2042T>C (p.Ile681Thr)	ABCC8 (I680T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3339468	NM_000352.6(ABCC8):c.4225A>T (p.Ile1409Phe)	ABCC8 (I1408F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3339440	NM_000352.6(ABCC8):c.4076C>G (p.Pro1359Arg)	ABCC8 (P1358R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3339361	NM_000352.6(ABCC8):c.4179C>T (p.Arg1393=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3339280	NM_000352.6(ABCC8):c.3416T>C (p.Leu1139Pro)	ABCC8 (L1138P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3339279	NM_000352.6(ABCC8):c.1513G>T (p.Gly505Cys)	ABCC8 (G504C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3339186	NM_000352.6(ABCC8):c.704C>T (p.Ala235Val)	ABCC8 (A235V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3339044	NM_000352.6(ABCC8):c.4075C>G (p.Pro1359Ala)	ABCC8 (P1358A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3338907	NM_000352.6(ABCC8):c.802G>A (p.Glu268Lys)	ABCC8 (E268K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3336369	NM_000352.6(ABCC8):c.3388A>C (p.Thr1130Pro)	ABCC8 (T1129P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3336320	NM_000352.6(ABCC8):c.19G>A (p.Gly7Ser)	ABCC8 (G7S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335997	NM_000352.6(ABCC8):c.4075C>T (p.Pro1359Ser)	ABCC8 (P1358S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335967	NM_000352.6(ABCC8):c.646C>T (p.Arg216Cys)	ABCC8 (R216C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304018	NM_000352.6(ABCC8):c.1375A>G (p.Ser459Gly)	ABCC8 (S458G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3253423	NM_000352.6(ABCC8):c.2474G>A (p.Arg825Gln)	ABCC8, LOC110121471 (R824Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252445	NM_000352.6(ABCC8):c.2332C>A (p.Leu778Met)	ABCC8, LOC110121471 (L777M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252261	NM_000352.6(ABCC8):c.4057T>A (p.Tyr1353Asn)	ABCC8 (Y1352N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3251923	NM_000352.6(ABCC8):c.2368G>C (p.Glu790Gln)	ABCC8, LOC110121471 (E789Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3251294	NM_000352.6(ABCC8):c.2689G>T (p.Asp897Tyr)	ABCC8 (D896Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3250957	NM_000352.6(ABCC8):c.1468G>T (p.Glu490Ter)	ABCC8 (E489* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3244735	NC_000011.9:g.(?_17408466)_(17434313_?)del	ABCC8, KCNJ11	Deletion	not provided	GPathogenic
Select item 3244729	NC_000011.9:g.(?_17355305)_(17434268_?)del	ABCC8, KCNJ11 +1 more	Deletion	not provided	GPathogenic
Select item 3244727	NC_000011.9:g.(?_17496907)_(17498208_?)del	ABCC8	Deletion	not provided	GLikely pathogenic
Select item 3244726	NC_000011.9:g.(?_17426039)_(17430084_?)del	ABCC8	Deletion	not provided	GPathogenic
Select item 3244725	NC_000011.9:g.(?_17416699)_(17416842_?)del	ABCC8	Deletion	not provided	GPathogenic
Select item 3241920	NM_000352.6(ABCC8):c.4549_4550del (p.Asn1517fs)	ABCC8 (N1516fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3241877	NM_000352.6(ABCC8):c.864G>A (p.Trp288Ter)	ABCC8 (W287* +1 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3241777	NM_000352.6(ABCC8):c.2470G>T (p.Glu824Ter)	ABCC8, LOC110121471 (E823* +3 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus	GPathogenic
Select item 3241710	NM_000352.6(ABCC8):c.580-2A>T	ABCC8	Single nucleotide variant (splice acceptor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3241628	NM_000352.6(ABCC8):c.3452C>A (p.Ser1151Ter)	ABCC8 (S1150* +3 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3241413	NM_000352.6(ABCC8):c.2256-1G>A	ABCC8	Single nucleotide variant (splice acceptor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3240020	NM_000352.6(ABCC8):c.2791_2792del (p.Met931fs)	ABCC8 (M930fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3240007	NM_000352.6(ABCC8):c.585C>A (p.Tyr195Ter)	ABCC8 (Y195*)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3240002	NM_000352.6(ABCC8):c.4119+1G>C	ABCC8	Single nucleotide variant (splice donor variant)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3239911	NM_000352.6(ABCC8):c.131dup (p.Ile46fs)	ABCC8 (I46fs)	Duplication (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3239837	NM_000352.6(ABCC8):c.3007dup (p.Tyr1003fs)	ABCC8 (Y1002fs +3 more)	Duplication (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3239828	NM_000352.6(ABCC8):c.2806C>T (p.Gln936Ter)	ABCC8 (Q935* +3 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus	GPathogenic
Select item 3239757	NM_000352.6(ABCC8):c.2760_2770del (p.Glu920fs)	ABCC8 (E919fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3239749	NM_000352.6(ABCC8):c.984del (p.Lys329fs)	ABCC8 (K328fs +1 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus	GLikely pathogenic
Select item 3239524	NM_000352.6(ABCC8):c.1949G>A (p.Arg650His)	ABCC8 (R649H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3236352	NM_000352.6(ABCC8):c.2093_2095del (p.Asn698del)	ABCC8 (N697del +2 more)	Deletion (inframe_deletion +1 more)	Diabetes mellitus, permanent neonatal 3	GLikely pathogenic
Select item 3233730	NM_000352.6(ABCC8):c.1238C>G (p.Thr413Ser)	ABCC8 (T412S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3233553	NM_000352.6(ABCC8):c.4432G>C (p.Gly1478Arg)	ABCC8 (G1477R +3 more)	Single nucleotide variant (missense variant +1 more)	Familial hyperinsulinism	GPathogenic
Select item 3233511	NC_000011.9:g.(17453792_17464266)_(17464860_17470062)del	ABCC8	Deletion	Familial hyperinsulinism	GPathogenic
Select item 3231260	NM_000352.6(ABCC8):c.3131C>A (p.Thr1044Asn)	ABCC8 (T1043N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3128975	NM_000352.6(ABCC8):c.808T>C (p.Phe270Leu)	ABCC8 (F270L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3128935	NM_000352.6(ABCC8):c.554T>G (p.Val185Gly)	ABCC8 (V185G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3128904	NM_000352.6(ABCC8):c.4204A>G (p.Ile1402Val)	ABCC8 (I1403V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3128850	NM_000352.6(ABCC8):c.2371A>T (p.Ser791Cys)	ABCC8, LOC110121471 (S790C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3128838	NM_000352.6(ABCC8):c.1997T>G (p.Leu666Arg)	ABCC8 (L666R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3128813	NM_000352.6(ABCC8):c.1094C>T (p.Ala365Val)	ABCC8 (A365V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068862	NM_000352.6(ABCC8):c.2921-17G>C	ABCC8	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3068502	NM_000352.6(ABCC8):c.3122TGACCC[3] (p.Thr1044_Pro1045insLeuThr)	ABCC8	Microsatellite (inframe_insertion +1 more)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 3065098	NM_000352.6(ABCC8):c.4297G>C (p.Gly1433Arg)	ABCC8 (G1432R +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 3063197	GRCh37/hg19 11p15.1(chr11:17126882-17579212)x3	ABCC8, KCNJ11 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3056721	NC_000011.10:g.17476972A>G	ABCC8	Single nucleotide variant	ABCC8-related disorder	GLikely benign
Select item 3052544	NM_000352.6(ABCC8):c.1104G>T (p.Leu368=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	ABCC8-related disorder	GLikely benign
Select item 3050519	NM_000352.6(ABCC8):c.1644G>A (p.Thr548=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	ABCC8-related disorder	GLikely benign
Select item 3048235	NM_000352.6(ABCC8):c.1672-26G>C	ABCC8	Single nucleotide variant (intron variant)	ABCC8-related disorder	GLikely benign
Select item 3047756	NM_000352.6(ABCC8):c.88G>A (p.Ala30Thr)	ABCC8 (A30T)	Single nucleotide variant (missense variant +1 more)	ABCC8-related disorder	GUncertain significance
Select item 3045024	NM_000352.6(ABCC8):c.1468-41G>A	ABCC8	Single nucleotide variant (intron variant)	ABCC8-related disorder	GLikely benign
Select item 3041607	NM_000352.6(ABCC8):c.3834C>T (p.Gly1278=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	ABCC8-related disorder	GLikely benign
Select item 3039886	NM_000352.6(ABCC8):c.-10C>G	ABCC8	Single nucleotide variant (5 prime UTR variant +1 more)	ABCC8-related disorder	GLikely benign
Select item 3036764	NM_000352.6(ABCC8):c.1672-4A>G	ABCC8	Single nucleotide variant (intron variant)	ABCC8-related disorder	GLikely benign
Select item 3032305	NM_000352.6(ABCC8):c.4577C>G (p.Ala1526Gly)	ABCC8 (A1525G +3 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related disorder	GUncertain significance
Select item 3023826	NM_000352.6(ABCC8):c.4307+19C>T	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023652	NM_000352.6(ABCC8):c.4546-12C>T	ABCC8	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 3023120	NM_000352.6(ABCC8):c.4546-14C>T	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign

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