"GeneDx"[submitter] AND "ABCC8"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 211221	NM_000525.4(KCNJ11):c.108G>A (p.Val36=)	ABCC8, KCNJ11	Single nucleotide variant (synonymous variant +1 more)	Maturity-onset diabetes of the young type 13 +9 more	GConflicting classifications of pathogenicity
Select item 8678	NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu)	ABCC8, KCNJ11 (K23E)	Single nucleotide variant (missense variant +2 more)	Hyperinsulinemic hypoglycemia, familial, 2 +9 more	GBenign/Likely benign
Select item 804493	NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His)	ABCC8 (R1578H +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 157706	NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=)	ABCC8, KCNJ11	Single nucleotide variant (synonymous variant +1 more)	Hyperinsulinism, Dominant/Recessive +8 more	GConflicting classifications of pathogenicity
Select item 157705	NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile)	ABCC8, KCNJ11 (V1572I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 35623	NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met)	ABCC8 (V1539M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 585348	NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln)	ABCC8 (R1538Q +3 more)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 556392	NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter)	ABCC8 (R1538* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 157704	NM_000352.6(ABCC8):c.4609-40A>G	ABCC8	Single nucleotide variant (intron variant)	Diabetes mellitus, permanent neonatal 3 +6 more	GConflicting classifications of pathogenicity
Select item 1233600	NM_000352.6(ABCC8):c.4609-82G>A	ABCC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255127	NM_000352.6(ABCC8):c.4609-103del	ABCC8	Deletion (intron variant)	not provided	GBenign
Select item 1198077	NM_000352.6(ABCC8):c.4608+187G>C	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220725	NM_000352.6(ABCC8):c.4608+101T>G	ABCC8	Single nucleotide variant (intron variant)	not provided	GBenign
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 555529	NM_000352.6(ABCC8):c.4608G>A (p.Ala1536=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Type 2 diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 434042	NM_000352.6(ABCC8):c.4588C>T (p.Arg1530Cys)	ABCC8 (R1530C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 434043	NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn)	ABCC8 (K1521N +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 1312141	NM_000352.6(ABCC8):c.4555C>T (p.Leu1519Phe)	ABCC8 (L1518F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1314491	NM_000352.6(ABCC8):c.4546-6T>A	ABCC8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1218106	NM_000352.6(ABCC8):c.4545+191G>A	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1506182	NM_000352.6(ABCC8):c.4544C>T (p.Thr1515Met)	ABCC8 (T1514M +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +2 more	GPathogenic/Likely pathogenic
Select item 255932	NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
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 9097	NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys)	ABCC8 (E1506K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
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 370910	NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln)	ABCC8 (R1493Q +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +2 more	GPathogenic/Likely pathogenic
Select item 1312860	NM_000352.6(ABCC8):c.4439A>C (p.Asn1480Thr)	ABCC8 (N1479T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1213659	NM_000352.6(ABCC8):c.4412-151C>T	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233369	NM_000352.6(ABCC8):c.4412-179C>T	ABCC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201214	NM_000352.6(ABCC8):c.4411+337G>A	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216356	NM_000352.6(ABCC8):c.4370C>T (p.Ala1457Val)	ABCC8 (A1456V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1312468	NM_000352.6(ABCC8):c.4342A>G (p.Ser1448Gly)	ABCC8 (S1447G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 280114	NM_000352.6(ABCC8):c.4308-2A>G	ABCC8	Single nucleotide variant (splice acceptor variant)	Hyperinsulinemic hypoglycemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 1187454	NM_000352.6(ABCC8):c.4308-56G>C	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 35617	NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)	ABCC8 (R1436* +3 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus +5 more	GPathogenic/Likely pathogenic
Select item 9095	NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)	ABCC8 (R1421C +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 552540	NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His)	ABCC8 (R1418H +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +5 more	GPathogenic/Likely pathogenic
Select item 1311162	NM_000352.6(ABCC8):c.4208T>C (p.Ile1403Thr)	ABCC8 (I1402T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1198705	NM_000352.6(ABCC8):c.4198+65C>T	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296663	NM_000352.6(ABCC8):c.4198+62G>A	ABCC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 446776	NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His)	ABCC8 (R1393H +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 1338261	NM_000352.6(ABCC8):c.4132G>A (p.Gly1378Ser)	ABCC8 (G1377S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 35612	NM_000352.6(ABCC8):c.4120-19C>T	ABCC8	Single nucleotide variant (intron variant)	Hyperinsulinemia +6 more	GConflicting classifications of pathogenicity
Select item 157700	NM_000352.6(ABCC8):c.4120-27T>C	ABCC8	Single nucleotide variant (intron variant)	Diabetes mellitus, permanent neonatal 3 +6 more	GConflicting classifications of pathogenicity
Select item 1199904	NM_000352.6(ABCC8):c.4120-131A>G	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191803	NM_000352.6(ABCC8):c.4120-144T>A	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239313	NM_000352.6(ABCC8):c.4119+254C>G	ABCC8	Single nucleotide variant (intron variant)	not provided	GBenign
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 585345	NM_000352.6(ABCC8):c.4119+18A>G	ABCC8	Single nucleotide variant (intron variant)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 157699	NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser)	ABCC8 (A1369S +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinism, Dominant/Recessive +9 more	GBenign
Select item 303754	NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile)	ABCC8 (V1364I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
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 265022	NM_000352.6(ABCC8):c.4028A>T (p.Lys1343Met)	ABCC8 (K1343M +3 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +7 more	GUncertain significance
Select item 553140	NM_000352.6(ABCC8):c.3989-3C>G	ABCC8	Single nucleotide variant (non-coding transcript variant +1 more)	Maturity onset diabetes mellitus in young +3 more	GUncertain significance
Select item 9088	NM_000352.6(ABCC8):c.3989-9G>A	ABCC8	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +5 more	GPathogenic
Select item 303756	NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, transient neonatal, 2 +7 more	GConflicting classifications of pathogenicity
Select item 879829	NM_000352.6(ABCC8):c.3877T>G (p.Tyr1293Asp)	ABCC8 (Y1294D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 1233689	NM_000352.6(ABCC8):c.3867+157C>T	ABCC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321535	NM_000352.6(ABCC8):c.3867+132G>A	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 157698	NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, permanent neonatal 3 +9 more	GBenign
Select item 1526005	NM_000352.6(ABCC8):c.3788C>T (p.Ala1263Val)	ABCC8 (A1262V +3 more)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus +1 more	GConflicting classifications of pathogenicity
Select item 2065295	NM_000352.6(ABCC8):c.3775G>A (p.Val1259Met)	ABCC8 (V1259M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 552431	NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser)	ABCC8 (G1255S +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 1246396	NM_000352.6(ABCC8):c.3754-156C>T	ABCC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198413	NM_000352.6(ABCC8):c.3754-186G>A	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225385	NM_000352.6(ABCC8):c.3753+269C>A	ABCC8	Single nucleotide variant (intron variant)	not provided	GBenign
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 1177694	NM_000352.6(ABCC8):c.3651-229A>G	ABCC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186215	NM_000352.6(ABCC8):c.3651-349T>C	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188797	NM_000352.6(ABCC8):c.3650+288C>A	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 877890	NM_000352.6(ABCC8):c.3650+4C>G	ABCC8	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1700849	NM_000352.6(ABCC8):c.3619G>A (p.Val1207Ile)	ABCC8 (V1206I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 157697	NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 1236580	NM_000352.6(ABCC8):c.3558-95C>T	ABCC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233545	NM_000352.6(ABCC8):c.3558-233T>A	ABCC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259366	NM_000352.6(ABCC8):c.3557+118_3557+121del	ABCC8	Deletion (intron variant)	not provided	GBenign
Select item 1204785	NM_000352.6(ABCC8):c.3557+23G>T	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1501932	NM_000352.6(ABCC8):c.3551C>T (p.Ala1184Val)	ABCC8 (A1185V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1804453	NM_000352.6(ABCC8):c.3505C>T (p.Pro1169Ser)	ABCC8 (P1168S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576202	NM_000352.6(ABCC8):c.3440T>G (p.Leu1147Arg)	ABCC8 (L1146R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 804491	NM_000352.6(ABCC8):c.3413C>T (p.Thr1138Met)	ABCC8 (T1137M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 1218649	NM_000352.6(ABCC8):c.3400-295C>A	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212231	NM_000352.6(ABCC8):c.3399+45C>A	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 303764	NM_000352.6(ABCC8):c.3399+13G>A	ABCC8	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1268614	NM_000352.6(ABCC8):c.3330-226C>G	ABCC8, LOC124421502	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249551	NM_000352.6(ABCC8):c.3330-253G>A	ABCC8, LOC124421502	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288616	NM_000352.6(ABCC8):c.3329+307C>T	ABCC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259658	NM_000352.6(ABCC8):c.3329+268G>C	ABCC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209534	NM_000352.6(ABCC8):c.3329+184G>C	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 35608	NM_000352.6(ABCC8):c.3329+6C>T	ABCC8	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 990392	NM_000352.6(ABCC8):c.3308G>A (p.Arg1103Gln)	ABCC8 (R1102Q +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GUncertain significance
Select item 388502	NM_000352.6(ABCC8):c.3293G>A (p.Arg1098His)	ABCC8 (R1098H +3 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, transient neonatal, 2 +7 more	GUncertain significance
Select item 585344	NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)	ABCC8 (T1068M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 280115	NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs)	ABCC8 (T1045fs +3 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2636684	NM_000352.6(ABCC8):c.3117C>A (p.Ser1039Arg)	ABCC8 (S1038R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1188506	NM_000352.6(ABCC8):c.3073G>A (p.Val1025Ile)	ABCC8 (V1024I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 2136283	NM_000352.6(ABCC8):c.3047T>C (p.Val1016Ala)	ABCC8 (V1015A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 434053	NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter)	ABCC8 (R998* +3 more)	Single nucleotide variant (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GPathogenic
Select item 702557	NM_000352.6(ABCC8):c.2958G>A (p.Ser986=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +7 more	GConflicting classifications of pathogenicity
Select item 2575863	NM_000352.6(ABCC8):c.2941G>A (p.Glu981Lys)	ABCC8 (E1003K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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