"Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic"[submitt - 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)	Maturity onset diabetes mellitus in young +9 more	GBenign/Likely benign
Select item 303742	NM_000525.4(KCNJ11):c.-498T>C	ABCC8, KCNJ11	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism, Dominant/Recessive +7 more	GConflicting classifications of pathogenicity
Select item 303745	NM_000525.4(KCNJ11):c.-559G>C	ABCC8, KCNJ11	Single nucleotide variant (5 prime UTR variant +1 more)	Transient Neonatal Diabetes, Dominant +7 more	GConflicting classifications of pathogenicity
Select item 368948	NM_000352.5(ABCC8):c.*118A>G	ABCC8	Single nucleotide variant (3 prime UTR variant +1 more)	Permanent neonatal diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 303746	NM_000352.6(ABCC8):c.*93T>A	ABCC8	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GUncertain significance
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)	not specified +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 550926	NM_000352.6(ABCC8):c.4685del (p.Pro1562fs)	ABCC8 (P1562fs +3 more)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +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 752172	NM_000352.6(ABCC8):c.4653G>A (p.Leu1551=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 303748	NM_000352.6(ABCC8):c.4647C>T (p.Ile1549=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +6 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 provided +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)	ABCC8-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1683782	NM_000352.6(ABCC8):c.4612C>G (p.Arg1538Gly)	ABCC8 (R1537G +3 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 157704	NM_000352.6(ABCC8):c.4609-40A>G	ABCC8	Single nucleotide variant (intron variant)	Transitory neonatal diabetes mellitus +6 more	GConflicting classifications of pathogenicity
Select item 761711	NM_000352.6(ABCC8):c.4608+10C>T	ABCC8	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 303749	NM_000352.6(ABCC8):c.4605C>T (p.Ile1535=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +5 more	GConflicting classifications of pathogenicity
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 434043	NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn)	ABCC8 (K1521N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 35621	NM_000352.6(ABCC8):c.4553T>G (p.Ile1518Ser)	ABCC8 (I1518S +3 more)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 766352	NM_000352.6(ABCC8):c.4546-4G>A	ABCC8	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 753639	NM_000352.6(ABCC8):c.4546-8C>T	ABCC8	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 255933	NM_000352.6(ABCC8):c.4545+13C>T	ABCC8	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 877783	NM_000352.6(ABCC8):c.4545+9T>C	ABCC8	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1684036	NM_000352.6(ABCC8):c.4545+4G>C	ABCC8	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 556006	NM_000352.6(ABCC8):c.4545+2T>G	ABCC8	Single nucleotide variant (splice donor variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
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 434036	NM_000352.6(ABCC8):c.4524G>A (p.Thr1508=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 78286	NM_000352.6(ABCC8):c.4485C>T (p.Phe1495=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 964449	NM_000352.6(ABCC8):c.4477del (p.Arg1493fs)	ABCC8 (R1492fs +3 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 9096	NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp)	ABCC8 (R1494W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 370647	NM_000352.6(ABCC8):c.4474del (p.Ala1492fs)	ABCC8 (A1491fs +3 more)	Deletion (frameshift variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 754271	NM_000352.6(ABCC8):c.4464G>A (p.Leu1488=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 551485	NM_000352.6(ABCC8):c.4456_4461del (p.Arg1486_Gln1487del)	ABCC8	Deletion (non-coding transcript variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GUncertain significance
Select item 217845	NM_000352.6(ABCC8):c.4456_4457del (p.Arg1486fs)	ABCC8 (R1487fs +3 more)	Microsatellite (frameshift variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 35620	NM_000352.6(ABCC8):c.4451G>A (p.Gly1484Glu)	ABCC8 (G1484E +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 434044	NM_000352.6(ABCC8):c.4450G>A (p.Gly1484Arg)	ABCC8 (G1484R +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 551204	NM_000352.6(ABCC8):c.4446C>A (p.Ser1482Arg)	ABCC8 (S1482R +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 807357	NM_000352.6(ABCC8):c.4438A>G (p.Asn1480Asp)	ABCC8 (N1481D +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GConflicting classifications of pathogenicity
Select item 557188	NM_000352.6(ABCC8):c.4412-2A>G	ABCC8	Single nucleotide variant (splice acceptor variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 763399	NM_000352.6(ABCC8):c.4412-4T>G	ABCC8	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 35619	NM_000352.6(ABCC8):c.4412-14C>T	ABCC8	Single nucleotide variant (intron variant)	Diabetes mellitus, permanent neonatal 3 +10 more	GConflicting classifications of pathogenicity
Select item 878824	NM_000352.6(ABCC8):c.4410C>T (p.Leu1470=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Permanent neonatal diabetes mellitus +5 more	GConflicting classifications of pathogenicity
Select item 1112579	NM_000352.6(ABCC8):c.4368C>T (p.Ile1456=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 35618	NM_000352.6(ABCC8):c.4368C>G (p.Ile1456Met)	ABCC8 (I1456M +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +3 more	GUncertain significance
Select item 878825	NM_000352.6(ABCC8):c.4366A>G (p.Ile1456Val)	ABCC8 (I1455V +3 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GUncertain significance
Select item 557349	NM_000352.6(ABCC8):c.4340_4362del (p.Asp1447fs)	ABCC8 (D1447fs +3 more)	Deletion (frameshift variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 703596	NM_000352.6(ABCC8):c.4360C>T (p.Leu1454=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 370329	NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter)	ABCC8 (W1451* +3 more)	Single nucleotide variant (nonsense +1 more)	Type 2 diabetes mellitus +2 more	GPathogenic/Likely pathogenic
Select item 554619	NM_000352.6(ABCC8):c.4349T>C (p.Leu1450Pro)	ABCC8 (L1450P +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GUncertain significance
Select item 830318	NM_000352.6(ABCC8):c.4325A>T (p.Glu1442Val)	ABCC8 (E1441V +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 551208	NM_000352.6(ABCC8):c.4322del (p.Pro1441fs)	ABCC8 (P1440fs +3 more)	Deletion (frameshift variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 210079	NM_000352.6(ABCC8):c.4314C>T (p.Asn1438=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 280114	NM_000352.6(ABCC8):c.4308-2A>G	ABCC8	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1684039	NM_000352.6(ABCC8):c.4307+13A>G	ABCC8	Single nucleotide variant (intron variant)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 753016	NM_000352.6(ABCC8):c.4307+9del	ABCC8	Deletion (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 550214	NM_000352.6(ABCC8):c.4275_4291del (p.Asp1427fs)	ABCC8 (D1426fs +3 more)	Deletion (frameshift variant +1 more)	Transitory neonatal diabetes mellitus +3 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)	Transitory neonatal diabetes mellitus +6 more	GUncertain significance
Select item 1684040	NM_000352.6(ABCC8):c.4281C>A (p.Asp1427Glu)	ABCC8 (D1426E +3 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 994766	NM_000352.6(ABCC8):c.4274T>C (p.Leu1425Pro)	ABCC8 (L1424P +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GUncertain significance
Select item 585347	NM_000352.6(ABCC8):c.4268T>G (p.Ile1423Ser)	ABCC8 (I1423S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 434057	NM_000352.6(ABCC8):c.4265C>G (p.Ser1422Cys)	ABCC8 (S1422C +3 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
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 743591	NM_000352.6(ABCC8):c.4227C>T (p.Ile1409=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	ABCC8-related disorder +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 936132	NM_000352.6(ABCC8):c.4199-2A>G	ABCC8	Single nucleotide variant (splice acceptor variant)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 794723	NM_000352.6(ABCC8):c.4199-6A>G	ABCC8	Single nucleotide variant (intron variant)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 303752	NM_000352.6(ABCC8):c.4199-8C>T	ABCC8	Single nucleotide variant (intron variant)	Permanent neonatal diabetes mellitus +5 more	GConflicting classifications of pathogenicity
Select item 446777	NM_000352.6(ABCC8):c.4198+18C>T	ABCC8	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 794422	NM_000352.6(ABCC8):c.4194C>T (p.Phe1398=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 1027359	NM_000352.6(ABCC8):c.4171T>G (p.Phe1391Val)	ABCC8 (F1390V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GUncertain significance
Select item 196880	NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)	ABCC8 (F1388del +3 more)	Deletion (inframe_deletion +1 more)	ABCC8-related disorder +4 more	GPathogenic
Select item 9100	NM_000352.6(ABCC8):c.4154CCT[1] (p.Ser1386del)	ABCC8 (S1386del +3 more)	Microsatellite (inframe_deletion +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 446773	NM_000352.6(ABCC8):c.4151_4152del (p.Lys1384fs)	ABCC8 (K1383fs +3 more)	Deletion (frameshift variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 968215	NM_000352.6(ABCC8):c.4138_4140delinsCA (p.Thr1380fs)	ABCC8 (T1380fs +3 more)	Indel (frameshift variant +1 more)	Type 2 diabetes mellitus +3 more	GConflicting classifications of pathogenicity
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 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 371608	NM_000352.6(ABCC8):c.4120-1G>T	ABCC8	Single nucleotide variant (splice acceptor variant)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GConflicting classifications of pathogenicity
Select item 35612	NM_000352.6(ABCC8):c.4120-19C>T	ABCC8	Single nucleotide variant (intron variant)	Diabetes mellitus, permanent neonatal 3 +6 more	GConflicting classifications of pathogenicity
Select item 157700	NM_000352.6(ABCC8):c.4120-27T>C	ABCC8	Single nucleotide variant (intron variant)	Transitory neonatal diabetes mellitus +6 more	GConflicting classifications of pathogenicity
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)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 303753	NM_000352.6(ABCC8):c.4119+15C>T	ABCC8	Single nucleotide variant (intron variant)	Transitory neonatal diabetes mellitus +5 more	GConflicting classifications of pathogenicity
Select item 989957	NM_000352.6(ABCC8):c.4119+10C>T	ABCC8	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +3 more	GConflicting classifications of pathogenicity
Select item 371155	NM_000352.6(ABCC8):c.4119+1del	ABCC8	Deletion (splice donor variant)	Transitory neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 553439	NM_000352.6(ABCC8):c.4115AGA[1] (p.Lys1373del)	ABCC8 (K1372del +1 more)	Deletion (inframe_deletion +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GUncertain significance
Select item 793518	NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 434046	NM_000352.6(ABCC8):c.4109C>T (p.Pro1370Leu)	ABCC8 (P1370L +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +1 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)	not provided +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 766442	NM_000352.6(ABCC8):c.4095T>C (p.Asn1365=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +2 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 746718	NM_000352.6(ABCC8):c.4089C>T (p.His1363=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity

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