ClinVar for MedGen (Select 1717271) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2637920	NM_000352.6(ABCC8):c.4383_4384dup (p.Val1462fs)	ABCC8 (V1461fs +3 more)	Duplication (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GLikely pathogenic
Select item 1803915	NM_000352.6(ABCC8):c.2164C>T (p.Leu722Phe)	ABCC8 (L721F +2 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 3 +1 more	GUncertain significance
Select item 1709187	NM_000352.6(ABCC8):c.2960C>T (p.Ser987Phe)	ABCC8 (S1009F +3 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 3	GUncertain significance
Select item 1687413	NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg)	ABCC8 (G315R +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +5 more	GConflicting classifications of pathogenicity
Select item 1684260	NM_000352.6(ABCC8):c.4090G>T (p.Val1364Phe)	ABCC8 (V1363F +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +6 more	GConflicting classifications of pathogenicity
Select item 1677653	NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg)	ABCC8 (G70R)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1677456	NM_000352.6(ABCC8):c.916C>A (p.Arg306Ser)	ABCC8 (R305S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 1673251	NM_000352.6(ABCC8):c.894C>A (p.Arg298=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Type 2 diabetes mellitus +5 more	GLikely benign
Select item 1668506	NM_000352.6(ABCC8):c.3765T>A (p.Gly1255=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
Select item 1664782	NM_000352.6(ABCC8):c.2391-17G>T	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 1626109	NM_000352.6(ABCC8):c.2473C>A (p.Arg825=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	Type 2 diabetes mellitus +5 more	GLikely benign
Select item 1600562	NM_000352.6(ABCC8):c.1924-17C>T	ABCC8 (P658L)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +6 more	GBenign/Likely benign
Select item 1585447	NM_000352.6(ABCC8):c.148+13A>C	ABCC8	Single nucleotide variant (intron variant)	not provided +5 more	GLikely benign
Select item 1582877	NM_000352.6(ABCC8):c.4434G>A (p.Gly1478=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
Select item 1580937	NM_000352.6(ABCC8):c.702C>T (p.Asn234=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +7 more	GLikely benign
Select item 1538965	NM_000352.6(ABCC8):c.795G>T (p.Arg265=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
Select item 1516993	NM_000352.6(ABCC8):c.1766C>T (p.Pro589Leu)	ABCC8 (P589L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 1390642	NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter)	ABCC8 (Y15*)	Single nucleotide variant (nonsense +1 more)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 1339208	NM_000352.6(ABCC8):c.2929G>A (p.Ala977Thr)	ABCC8 (A976T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1338672	NM_000352.6(ABCC8):c.2975G>C (p.Arg992Pro)	ABCC8 (R1014P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +7 more	GUncertain significance
Select item 1338595	NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)	ABCC8 (A113V)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1338594	NM_000352.6(ABCC8):c.973G>A (p.Asp325Asn)	ABCC8 (D324N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +6 more	GUncertain significance
Select item 1338082	NM_000352.6(ABCC8):c.1942C>T (p.Arg648Cys)	ABCC8 (R647C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GUncertain significance
Select item 1337795	NM_000352.6(ABCC8):c.4267A>G (p.Ile1423Val)	ABCC8 (I1422V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GUncertain significance
Select item 1337542	NM_000352.6(ABCC8):c.2798G>A (p.Arg933Gln)	ABCC8 (R932Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GUncertain significance
Select item 1337205	NM_000352.6(ABCC8):c.1973G>T (p.Gly658Val)	ABCC8 (G657V +2 more)	Single nucleotide variant (missense variant +1 more)	Leucine-induced hypoglycemia +6 more	GUncertain significance
Select item 1336492	NM_000352.6(ABCC8):c.371A>T (p.Tyr124Phe)	ABCC8 (Y124F)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GUncertain significance
Select item 1336020	NM_000352.6(ABCC8):c.1189A>C (p.Asn397His)	ABCC8 (N396H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 1334167	NM_000352.6(ABCC8):c.1531C>G (p.Leu511Val)	ABCC8 (L510V +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +5 more	GUncertain significance
Select item 1321361	NM_000352.6(ABCC8):c.806C>A (p.Ala269Asp)	ABCC8 (A269D)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +5 more	GUncertain significance
Select item 1312468	NM_000352.6(ABCC8):c.4342A>G (p.Ser1448Gly)	ABCC8 (S1447G +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +5 more	GUncertain significance
Select item 1310222	NM_000352.6(ABCC8):c.3658G>A (p.Ala1220Thr)	ABCC8 (A1219T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 1210344	NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile)	ABCC8 (V1154I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 1188506	NM_000352.6(ABCC8):c.3073G>A (p.Val1025Ile)	ABCC8 (V1024I +3 more)	Single nucleotide variant (missense variant +1 more)	Leucine-induced hypoglycemia +6 more	GUncertain significance
Select item 1188359	NM_000352.6(ABCC8):c.2390+17G>C	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 1179142	NM_000352.6(ABCC8):c.1893del (p.Gln632fs)	ABCC8 (Q631fs +1 more)	Deletion (frameshift variant +1 more)	Leucine-induced hypoglycemia +4 more	GPathogenic
Select item 1177452	NM_000352.6(ABCC8):c.4119+93G>T	ABCC8	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1177451	NM_000352.6(ABCC8):c.2256-50T>C	ABCC8	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1177450	NM_000352.6(ABCC8):c.2390+93C>T	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1177449	NM_000352.6(ABCC8):c.2390+123C>T	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1177448	NM_000352.6(ABCC8):c.2390+219T>C	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1169205	NM_000352.6(ABCC8):c.4608+54G>C	ABCC8	Single nucleotide variant (intron variant)	Diabetes mellitus, permanent neonatal 3 +4 more	GBenign
Select item 1154653	NM_000352.6(ABCC8):c.603G>A (p.Pro201=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, permanent neonatal 3 +5 more	GLikely benign
Select item 1154102	NM_000352.6(ABCC8):c.3142A>C (p.Arg1048=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
Select item 1152010	NM_000352.6(ABCC8):c.2319G>C (p.Ser773=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
Select item 1151791	NM_000352.6(ABCC8):c.1581G>A (p.Arg527=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
Select item 1148080	NM_000352.6(ABCC8):c.660C>T (p.Pro220=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
Select item 1148077	NM_000352.6(ABCC8):c.2634C>T (p.Asp878=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
Select item 1144820	NM_000352.6(ABCC8):c.4425A>G (p.Thr1475=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, permanent neonatal 3 +5 more	GLikely benign
Select item 1143901	NM_000352.6(ABCC8):c.4236G>A (p.Leu1412=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, permanent neonatal 3 +5 more	GLikely benign
Select item 1134188	NM_000352.6(ABCC8):c.2226T>C (p.Leu742=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
Select item 1132494	NM_000352.6(ABCC8):c.1662T>G (p.Ala554=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
Select item 1121620	NM_000352.6(ABCC8):c.822+7G>A	ABCC8	Single nucleotide variant (intron variant)	Leucine-induced hypoglycemia +5 more	GLikely benign
Select item 1116855	NM_000352.6(ABCC8):c.3414G>A (p.Thr1138=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Leucine-induced hypoglycemia +5 more	GLikely benign
Select item 1116523	NM_000352.6(ABCC8):c.2916G>A (p.Glu972=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Leucine-induced hypoglycemia +5 more	GLikely benign
Select item 1114484	NM_000352.6(ABCC8):c.4152G>A (p.Lys1384=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Leucine-induced hypoglycemia +5 more	GLikely benign
Select item 1111377	NM_000352.6(ABCC8):c.1068C>T (p.Tyr356=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, permanent neonatal 3 +5 more	GLikely benign
Select item 1107444	NM_000352.6(ABCC8):c.1800C>T (p.Thr600=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
Select item 1103775	NM_000352.6(ABCC8):c.2883G>A (p.Ser961=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, permanent neonatal 3 +5 more	GLikely benign
Select item 1102419	NM_000352.6(ABCC8):c.1281G>A (p.Gln427=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, permanent neonatal 3 +5 more	GLikely benign
Select item 1099044	NM_000352.6(ABCC8):c.480C>T (p.His160=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, permanent neonatal 3 +5 more	GLikely benign
Select item 1094174	NM_000352.6(ABCC8):c.4677C>T (p.Phe1559=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, permanent neonatal 3 +6 more	GLikely benign
Select item 1086716	NM_000352.6(ABCC8):c.2304C>T (p.Pro768=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, permanent neonatal 3 +5 more	GLikely benign
Select item 1076249	NM_000352.6(ABCC8):c.1647del (p.Ile550fs)	ABCC8 (I549fs +1 more)	Deletion (frameshift variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 1071311	NM_000352.6(ABCC8):c.1332G>T (p.Gln444His)	ABCC8 (Q443H +1 more)	Single nucleotide variant (missense variant +1 more)	Leucine-induced hypoglycemia +5 more	GPathogenic/Likely pathogenic
Select item 992071	NM_000352.6(ABCC8):c.4C>A (p.Pro2Thr)	ABCC8 (P2T)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +5 more	GUncertain significance
Select item 991066	NM_000352.6(ABCC8):c.255G>A (p.Leu85=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 991062	NM_000352.6(ABCC8):c.692G>C (p.Trp231Ser)	ABCC8 (W231S)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +4 more	GUncertain significance
Select item 991061	NM_000352.6(ABCC8):c.822+3C>T	ABCC8	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +6 more	GUncertain significance
Select item 991057	NM_000352.6(ABCC8):c.1024G>A (p.Gly342Arg)	ABCC8 (G341R +1 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +4 more	GUncertain significance
Select item 991054	NM_000352.6(ABCC8):c.1412C>T (p.Ala471Val)	ABCC8 (A470V +1 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +4 more	GUncertain significance
Select item 991052	NM_000352.6(ABCC8):c.1457G>A (p.Arg486Gln)	ABCC8 (R485Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 991050	NM_000352.6(ABCC8):c.1666C>T (p.Leu556Phe)	ABCC8 (L555F +1 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +6 more	GUncertain significance
Select item 990408	NM_000352.6(ABCC8):c.1923+3G>A	ABCC8	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +7 more	GUncertain significance
Select item 990397	NM_000352.6(ABCC8):c.2753G>A (p.Arg918Lys)	ABCC8 (R917K +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +6 more	GUncertain significance
Select item 990396	NM_000352.6(ABCC8):c.2869C>G (p.Arg957Gly)	ABCC8 (R956G +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +6 more	GUncertain significance
Select item 990395	NM_000352.6(ABCC8):c.2938G>A (p.Glu980Lys)	ABCC8 (E1002K +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +7 more	GUncertain significance
Select item 990389	NM_000352.6(ABCC8):c.3493G>A (p.Val1165Met)	ABCC8 (V1164M +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +4 more	GUncertain significance
Select item 989964	NM_000352.6(ABCC8):c.3649A>G (p.Arg1217Gly)	ABCC8 (R1216G +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +6 more	GUncertain significance
Select item 989959	NM_000352.6(ABCC8):c.3988+19G>C	ABCC8	Single nucleotide variant (non-coding transcript variant +1 more)	Type 2 diabetes mellitus +7 more	GConflicting classifications of pathogenicity
Select item 989953	NM_000352.6(ABCC8):c.4285G>A (p.Val1429Ile)	ABCC8 (V1428I +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +6 more	GUncertain significance
Select item 880150	NM_000352.6(ABCC8):c.787T>G (p.Tyr263Asp)	ABCC8 (Y263D)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, transient neonatal, 2 +5 more	GUncertain significance
Select item 879979	NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys)	ABCC8 (W738C +2 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, transient neonatal, 2 +7 more	GUncertain significance
Select item 877185	NM_000352.6(ABCC8):c.2206G>T (p.Ala736Ser)	ABCC8 (A736S +2 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, transient neonatal, 2 +8 more	GUncertain significance
Select item 853822	NM_000352.6(ABCC8):c.382G>A (p.Glu128Lys)	ABCC8 (E128K)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +5 more	GPathogenic/Likely pathogenic
Select item 806626	NM_000352.6(ABCC8):c.765C>T (p.Ile255=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
Select item 804491	NM_000352.6(ABCC8):c.3413C>T (p.Thr1138Met)	ABCC8 (T1137M +3 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 3 +6 more	GUncertain significance
Select item 802658	NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val)	ABCC8 (D1193V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 796203	NM_000352.6(ABCC8):c.413-5G>C	ABCC8	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +5 more	GLikely benign
Select item 764491	NM_000352.6(ABCC8):c.3513C>T (p.Ala1171=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +6 more	GLikely benign
Select item 633025	NM_000352.6(ABCC8):c.892C>T (p.Arg298Cys)	ABCC8 (R298C +1 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +8 more	GUncertain significance
Select item 632619	NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln)	ABCC8 (R1214Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 632057	NM_000352.6(ABCC8):c.343A>G (p.Met115Val)	ABCC8 (M115V)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 585352	NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn)	ABCC8 (D310N +1 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +5 more	GLikely pathogenic
Select item 585351	NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter)	ABCC8 (R248*)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus +5 more	GPathogenic/Likely pathogenic
Select item 585350	NM_000352.6(ABCC8):c.647G>A (p.Arg216His)	ABCC8 (R216H)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +5 more	GUncertain significance
Select item 558288	NM_000352.6(ABCC8):c.2222+15C>A	ABCC8	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 556086	NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile)	ABCC8 (T229I)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 554962	NM_000352.6(ABCC8):c.3938G>A (p.Arg1313His)	ABCC8 (R1314H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GUncertain significance
Select item 553752	NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys)	ABCC8 (R526C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GPathogenic/Likely pathogenic

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