6833[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
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 of the young type 13 +9 more	GBenign/Likely benign
Select item 303740	NM_000525.4(KCNJ11):c.-154G>T	ABCC8, KCNJ11	Single nucleotide variant (intron variant +1 more)	Maturity-onset diabetes of the young type 13 +6 more	GConflicting classifications of pathogenicity
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 1338613	NM_000352.6(ABCC8):c.*7A>C	ABCC8	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2812639	NM_000352.6(ABCC8):c.4733G>C (p.Arg1578Pro)	ABCC8 (R1600P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2171714	NM_000352.6(ABCC8):c.4729G>A (p.Val1577Ile)	ABCC8 (V1576I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1997506	NM_000352.6(ABCC8):c.4722C>G (p.Ala1574=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1080359	NM_000352.6(ABCC8):c.4722C>T (p.Ala1574=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1443657	NM_000352.6(ABCC8):c.4720G>A (p.Ala1574Thr)	ABCC8 (A1596T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1157880	NM_000352.6(ABCC8):c.4719C>T (p.Phe1573=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 157705	NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile)	ABCC8, KCNJ11 (V1572I +3 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +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 2841388	NM_000352.6(ABCC8):c.4710C>T (p.Asp1570=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1098089	NM_000352.6(ABCC8):c.4707G>A (p.Lys1569=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967054	NM_000352.6(ABCC8):c.4704G>A (p.Arg1568=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2713814	NM_000352.6(ABCC8):c.4704G>C (p.Arg1568=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2893329	NM_000352.6(ABCC8):c.4702C>A (p.Arg1568=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2775626	NM_000352.6(ABCC8):c.4698C>T (p.Leu1566=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 303747	NM_000352.6(ABCC8):c.4690A>G (p.Lys1564Glu)	ABCC8 (K1564E +3 more)	Single nucleotide variant (missense variant +1 more)	Permanent neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 1955304	NM_000352.6(ABCC8):c.4686A>G (p.Pro1562=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2840106	NM_000352.6(ABCC8):c.4683G>A (p.Lys1561=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1094174	NM_000352.6(ABCC8):c.4677C>T (p.Phe1559=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, transient neonatal, 2 +6 more	GLikely benign
Select item 2438742	NM_000352.6(ABCC8):c.4674G>C (p.Glu1558Asp)	ABCC8 (E1557D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1079112	NM_000352.6(ABCC8):c.4674G>A (p.Glu1558=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2776636	NM_000352.6(ABCC8):c.4671T>C (p.Leu1557=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2040160	NM_000352.6(ABCC8):c.4662T>C (p.Gly1554=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2848441	NM_000352.6(ABCC8):c.4661G>T (p.Gly1554Val)	ABCC8 (G1554V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2735544	NM_000352.6(ABCC8):c.4661G>A (p.Gly1554Asp)	ABCC8 (G1553D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1148939	NM_000352.6(ABCC8):c.4659G>C (p.Arg1553=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2146457	NM_000352.6(ABCC8):c.4657C>T (p.Arg1553Trp)	ABCC8 (R1552W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1941525	NM_000352.6(ABCC8):c.4653G>T (p.Leu1551=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2865787	NM_000352.6(ABCC8):c.4651C>T (p.Leu1551=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1941526	NM_000352.6(ABCC8):c.4650C>T (p.Val1550=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2576193	NM_000352.6(ABCC8):c.4649T>A (p.Val1550Asp)	ABCC8 (V1549D +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	GUncertain significance
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 188836	NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)	ABCC8 (L1543P +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +6 more	GPathogenic/Likely pathogenic
Select item 2701632	NM_000352.6(ABCC8):c.4623C>T (p.Thr1541=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2056708	NM_000352.6(ABCC8):c.4620C>T (p.His1540=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2021337	NM_000352.6(ABCC8):c.4614A>T (p.Arg1538=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 585348	NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln)	ABCC8 (R1538Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +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 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 1526007	NM_000352.6(ABCC8):c.4610A>G (p.His1537Arg)	ABCC8 (H1536R +3 more)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus	GLikely pathogenic
Select item 2972590	NM_000352.6(ABCC8):c.4609-7_4609-3del	ABCC8	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1080302	NM_000352.6(ABCC8):c.4609-10C>T	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912658	NM_000352.6(ABCC8):c.4609-16del	ABCC8	Deletion (intron variant)	not provided	GBenign
Select item 2161629	NM_000352.6(ABCC8):c.4609-16C>T	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2738356	NM_000352.6(ABCC8):c.4609-17C>T	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859223	NM_000352.6(ABCC8):c.4609-20C>A	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 2882322	NM_000352.6(ABCC8):c.4608+20G>A	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2746525	NM_000352.6(ABCC8):c.4608+18G>A	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004423	NM_000352.6(ABCC8):c.4608+13T>C	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876596	NM_000352.6(ABCC8):c.4608+11C>T	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2986525	NM_000352.6(ABCC8):c.4608+9C>T	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1096081	NM_000352.6(ABCC8):c.4608+9C>A	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1092452	NM_000352.6(ABCC8):c.4608+9C>G	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853262	NM_000352.6(ABCC8):c.4608+8del	ABCC8	Deletion (intron variant)	not provided	GBenign
Select item 2710869	NM_000352.6(ABCC8):c.4608+7G>A	ABCC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1338516	NM_000352.6(ABCC8):c.4608+1G>A	ABCC8	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 555529	NM_000352.6(ABCC8):c.4608G>A (p.Ala1536=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 556519	NM_000352.6(ABCC8):c.4607C>T (p.Ala1536Val)	ABCC8 (A1536V +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +1 more	GUncertain significance
Select item 2884032	NM_000352.6(ABCC8):c.4606G>A (p.Ala1536Thr)	ABCC8 (A1536T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1704495	NM_000352.6(ABCC8):c.4606G>C (p.Ala1536Pro)	ABCC8 (A1537P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2994775	NM_000352.6(ABCC8):c.4601C>A (p.Thr1534Asn)	ABCC8 (T1556N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1609839	NM_000352.6(ABCC8):c.4593T>C (p.Thr1531=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1580390	NM_000352.6(ABCC8):c.4593T>A (p.Thr1531=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1338651	NM_000352.6(ABCC8):c.4591A>G (p.Thr1531Ala)	ABCC8 (T1530A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2628701	NM_000352.6(ABCC8):c.4589G>A (p.Arg1530His)	ABCC8 (R1529H +3 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related disorder	GUncertain significance
Select item 1445163	NM_000352.6(ABCC8):c.4588del (p.Arg1530fs)	ABCC8 (R1529fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 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 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 1102279	NM_000352.6(ABCC8):c.4569G>A (p.Val1523=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 35622	NM_000352.6(ABCC8):c.4564G>A (p.Val1522Met)	ABCC8 (V1522M +3 more)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus	GLikely pathogenic
Select item 554959	NM_000352.6(ABCC8):c.4563G>C (p.Lys1521Asn)	ABCC8 (K1521N +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1	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)	not specified +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 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 1338496	NM_000352.6(ABCC8):c.4547A>G (p.Glu1516Gly)	ABCC8 (E1515G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic

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