"Natera, Inc."[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=)	KCNJ11, ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +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)	Type 2 diabetes mellitus +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)	Maturity onset diabetes mellitus in young +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)	Inborn genetic diseases +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)	Neonatal hypoglycemia +10 more	GConflicting classifications of pathogenicity
Select item 989950	NM_000352.6(ABCC8):c.4713C>T (p.Ser1571=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 767064	NM_000352.6(ABCC8):c.4703G>A (p.Arg1568Gln)	ABCC8 (R1567Q +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 745661	NM_000352.6(ABCC8):c.4656G>A (p.Lys1552=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 188836	NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)	ABCC8 (L1543P +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +6 more	GPathogenic/Likely pathogenic
Select item 446778	NM_000352.6(ABCC8):c.4591A>C (p.Thr1531Pro)	ABCC8 (T1531P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 765572	NM_000352.6(ABCC8):c.4581C>T (p.Phe1527=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 989951	NM_000352.6(ABCC8):c.4545+4G>A	ABCC8	Single nucleotide variant (intron variant)	Hereditary hyperinsulinism	GUncertain significance
Select item 255932	NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, transient neonatal, 2 +7 more	GConflicting classifications of pathogenicity
Select item 989952	NM_000352.6(ABCC8):c.4527T>G (p.Ala1509=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +1 more	GUncertain significance
Select item 9096	NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp)	ABCC8 (R1494W +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 551999	NM_000352.6(ABCC8):c.4412-13G>A	ABCC8	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 35619	NM_000352.6(ABCC8):c.4412-14C>T	ABCC8	Single nucleotide variant (intron variant)	Transitory neonatal diabetes mellitus +10 more	GConflicting classifications of pathogenicity
Select item 1065979	NM_000352.6(ABCC8):c.4411+2T>C	ABCC8	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 188931	NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn)	ABCC8 (D1471N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 9086	NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln)	ABCC8 (R1436Q +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +3 more	GPathogenic
Select item 35617	NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)	ABCC8 (R1436* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 764032	NM_000352.6(ABCC8):c.4296C>T (p.Ser1432=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +2 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)	Diabetes mellitus, transient neonatal, 2 +6 more	GUncertain significance
Select item 989954	NM_000352.6(ABCC8):c.4281C>T (p.Asp1427=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 794885	NM_000352.6(ABCC8):c.4239G>A (p.Pro1413=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 303751	NM_000352.6(ABCC8):c.4239G>T (p.Pro1413=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 743591	NM_000352.6(ABCC8):c.4227C>T (p.Ile1409=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 989955	NM_000352.6(ABCC8):c.4203C>T (p.His1401=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +1 more	GUncertain significance
Select item 35616	NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)	ABCC8 (G1400R +3 more)	Single nucleotide variant (missense variant +1 more)	Familial hyperinsulinism +3 more	GPathogenic/Likely pathogenic
Select item 446776	NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His)	ABCC8 (R1393H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 196880	NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)	ABCC8 (F1388del +3 more)	Deletion (inframe_deletion +1 more)	Maturity onset diabetes mellitus in young +5 more	GConflicting classifications of pathogenicity
Select item 554372	NM_000352.6(ABCC8):c.4141G>A (p.Gly1381Ser)	ABCC8 (G1381S +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +1 more	GUncertain significance
Select item 755421	NM_000352.6(ABCC8):c.4140C>T (p.Thr1380=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 35614	NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser)	ABCC8 (R1379S +3 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes +3 more	GUncertain significance
Select item 989956	NM_000352.6(ABCC8):c.4124G>C (p.Gly1375Ala)	ABCC8 (G1374A +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +1 more	GUncertain significance
Select item 35612	NM_000352.6(ABCC8):c.4120-19C>T	ABCC8	Single nucleotide variant (intron variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 989957	NM_000352.6(ABCC8):c.4119+10C>T	ABCC8	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 793518	NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +7 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)	Type 2 diabetes mellitus +9 more	GBenign
Select item 989958	NM_000352.6(ABCC8):c.4104C>T (p.Ile1368=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 303754	NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile)	ABCC8 (V1364I +3 more)	Single nucleotide variant (missense variant +1 more)	Permanent neonatal diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 265022	NM_000352.6(ABCC8):c.4028A>T (p.Lys1343Met)	ABCC8 (K1343M +3 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 3 +7 more	GUncertain significance
Select item 9088	NM_000352.6(ABCC8):c.3989-9G>A	ABCC8	Single nucleotide variant (non-coding transcript variant +1 more)	Type 2 diabetes mellitus +6 more	GPathogenic
Select item 989959	NM_000352.6(ABCC8):c.3988+19G>C	ABCC8	Single nucleotide variant (non-coding transcript variant +1 more)	Diabetes mellitus, transient neonatal, 2 +7 more	GConflicting classifications of pathogenicity
Select item 989960	NM_000352.6(ABCC8):c.3984C>T (p.Leu1328=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 766424	NM_000352.6(ABCC8):c.3960C>T (p.Thr1320=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 765816	NM_000352.6(ABCC8):c.3918C>G (p.Leu1306=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 157698	NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Type 2 diabetes mellitus +9 more	GBenign
Select item 654797	NM_000352.6(ABCC8):c.3753+2C>T	ABCC8	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 370163	NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter)	ABCC8 (R1250* +3 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus +3 more	GPathogenic
Select item 989961	NM_000352.6(ABCC8):c.3661C>T (p.Arg1221Trp)	ABCC8 (R1220W +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
Select item 989962	NM_000352.6(ABCC8):c.3654T>C (p.Tyr1218=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 989963	NM_000352.6(ABCC8):c.3651-4C>G	ABCC8	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 877890	NM_000352.6(ABCC8):c.3650+4C>G	ABCC8	Single nucleotide variant (intron variant)	Permanent neonatal diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 989964	NM_000352.6(ABCC8):c.3649A>G (p.Arg1217Gly)	ABCC8 (R1216G +3 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, transient neonatal, 2 +6 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)	Type 2 diabetes mellitus +6 more	GPathogenic/Likely pathogenic
Select item 235633	NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp)	ABCC8 (R1214W +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +3 more	GPathogenic/Likely pathogenic
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 446770	NM_000352.6(ABCC8):c.3558-7G>A	ABCC8	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 157696	NM_000352.6(ABCC8):c.3509del (p.Leu1170fs)	ABCC8 (L1170fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus +3 more	GPathogenic
Select item 990388	NM_000352.6(ABCC8):c.3502T>C (p.Leu1168=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 990389	NM_000352.6(ABCC8):c.3493G>A (p.Val1165Met)	ABCC8 (V1164M +3 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, transient neonatal, 2 +4 more	GUncertain significance
Select item 879518	NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +5 more	GConflicting classifications of pathogenicity
Select item 795473	NM_000352.6(ABCC8):c.3439C>T (p.Leu1147=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +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 370935	NM_000352.6(ABCC8):c.3400-1G>A	ABCC8	Single nucleotide variant (splice acceptor variant)	Hyperinsulinemic hypoglycemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 1212231	NM_000352.6(ABCC8):c.3399+45C>A	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 990390	NM_000352.6(ABCC8):c.3399+12C>T	ABCC8	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 1166162	NM_000352.6(ABCC8):c.3393C>T (p.Ile1131=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	ABCC8-related disorder +1 more	GBenign/Likely benign
Select item 210075	NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 990391	NM_000352.6(ABCC8):c.3329+7G>A	ABCC8	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 796134	NM_000352.6(ABCC8):c.3309G>T (p.Arg1103=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 990392	NM_000352.6(ABCC8):c.3308G>A (p.Arg1103Gln)	ABCC8 (R1102Q +3 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +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 990393	NM_000352.6(ABCC8):c.3172C>T (p.Leu1058Phe)	ABCC8 (L1057F +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +1 more	GUncertain significance
Select item 990394	NM_000352.6(ABCC8):c.3147C>A (p.Asn1049Lys)	ABCC8 (N1048K +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary hyperinsulinism	GUncertain significance
Select item 303766	NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn)	ABCC8 (D1038N +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +5 more	GConflicting classifications of pathogenicity
Select item 706691	NM_000352.6(ABCC8):c.3111C>T (p.Thr1037=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 740515	NM_000352.6(ABCC8):c.3099G>A (p.Leu1033=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +2 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)	Inborn genetic diseases +6 more	GUncertain significance
Select item 732046	NM_000352.6(ABCC8):c.3039G>A (p.Ser1013=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
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)	Permanent neonatal diabetes mellitus +7 more	GConflicting classifications of pathogenicity
Select item 990395	NM_000352.6(ABCC8):c.2938G>A (p.Glu980Lys)	ABCC8 (E1002K +3 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, transient neonatal, 2 +7 more	GUncertain significance
Select item 434048	NM_000352.6(ABCC8):c.2921-9G>A	ABCC8	Single nucleotide variant (non-coding transcript variant +1 more)	Type 2 diabetes mellitus +2 more	GPathogenic/Likely pathogenic
Select item 990396	NM_000352.6(ABCC8):c.2869C>G (p.Arg957Gly)	ABCC8 (R956G +3 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, transient neonatal, 2 +6 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)	Diabetes mellitus, transient neonatal, 2 +6 more	GUncertain significance
Select item 633028	NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)	ABCC8 (W898* +3 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus +4 more	GPathogenic/Likely pathogenic
Select item 990398	NM_000352.6(ABCC8):c.2648T>G (p.Val883Gly)	ABCC8 (V882G +3 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 195647	NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +6 more	GConflicting classifications of pathogenicity
Select item 990399	NM_000352.6(ABCC8):c.2574T>C (p.Ala858=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 1218710	NM_000352.6(ABCC8):c.2556+30C>T	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 990400	NM_000352.6(ABCC8):c.2556+9A>C	ABCC8	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 990401	NM_000352.6(ABCC8):c.2544C>T (p.Asn848=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 990402	NM_000352.6(ABCC8):c.2538C>A (p.His846Gln)	ABCC8 (H845Q +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary hyperinsulinism	GUncertain significance
Select item 188915	NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)	ABCC8 (R836* +3 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus +6 more	GPathogenic/Likely pathogenic
Select item 157691	NM_000352.6(ABCC8):c.2485C>T (p.Leu829=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Neonatal hypoglycemia +7 more	GBenign
Select item 990403	NM_000352.6(ABCC8):c.2391-5G>A	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity

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