"Ambry Genetics"[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 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 745661	NM_000352.6(ABCC8):c.4656G>A (p.Lys1552=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not specified +4 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)	Hyperinsulinemic hypoglycemia, familial, 1 +6 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)	Transitory neonatal diabetes mellitus +3 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)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 434036	NM_000352.6(ABCC8):c.4524G>A (p.Thr1508=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 210080	NM_000352.6(ABCC8):c.4482C>T (p.Ala1494=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 157703	NM_000352.6(ABCC8):c.4431C>T (p.Gly1477=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 2611301	NM_000352.6(ABCC8):c.4406G>A (p.Gly1469Asp)	ABCC8 (G1468D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533440	NM_000352.6(ABCC8):c.4400C>T (p.Pro1467Leu)	ABCC8 (P1466L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1614376	NM_000352.6(ABCC8):c.4350G>A (p.Leu1450=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1739013	NM_000352.6(ABCC8):c.4242G>A (p.Leu1414=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 794885	NM_000352.6(ABCC8):c.4239G>A (p.Pro1413=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +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)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 3128904	NM_000352.6(ABCC8):c.4204A>G (p.Ile1402Val)	ABCC8 (I1403V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2617533	NM_000352.6(ABCC8):c.4099C>T (p.Leu1367Phe)	ABCC8 (L1366F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 985349	NM_000352.6(ABCC8):c.4078G>A (p.Val1360Met)	ABCC8 (V1359M +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +2 more	GUncertain significance
Select item 587515	NM_000352.6(ABCC8):c.4051G>A (p.Val1351Met)	ABCC8 (V1351M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 2315645	NM_000352.6(ABCC8):c.3995C>T (p.Ser1332Leu)	ABCC8 (S1333L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 989960	NM_000352.6(ABCC8):c.3984C>T (p.Leu1328=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1736665	NM_000352.6(ABCC8):c.3978G>A (p.Glu1326=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 303757	NM_000352.6(ABCC8):c.3951C>G (p.Leu1317=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1083030	NM_000352.6(ABCC8):c.3909C>T (p.Asp1303=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 303758	NM_000352.6(ABCC8):c.3858C>T (p.Tyr1286=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +6 more	GConflicting classifications of pathogenicity
Select item 550721	NM_000352.6(ABCC8):c.3788C>A (p.Ala1263Glu)	ABCC8 (A1263E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 1100859	NM_000352.6(ABCC8):c.3537G>A (p.Lys1179=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1732398	NM_000352.6(ABCC8):c.3535A>G (p.Lys1179Glu)	ABCC8 (K1179E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 35609	NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)	ABCC8 (V1173M +3 more)	Single nucleotide variant (missense variant +1 more)	Permanent neonatal diabetes mellitus +5 more	GUncertain significance
Select item 706690	NM_000352.6(ABCC8):c.3516C>T (p.Ile1172=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2533256	NM_000352.6(ABCC8):c.3514A>G (p.Ile1172Val)	ABCC8 (I1172V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 764491	NM_000352.6(ABCC8):c.3513C>T (p.Ala1171=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Type 2 diabetes mellitus +6 more	GLikely benign
Select item 2230344	NM_000352.6(ABCC8):c.3511G>A (p.Ala1171Thr)	ABCC8 (A1172T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307381	NM_000352.6(ABCC8):c.3490C>T (p.Leu1164Phe)	ABCC8 (L1164F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479144	NM_000352.6(ABCC8):c.3461C>T (p.Ala1154Val)	ABCC8 (A1154V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 303763	NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 2492181	NM_000352.6(ABCC8):c.3326T>G (p.Met1109Arg)	ABCC8 (M1108R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2568301	NM_000352.6(ABCC8):c.3307C>A (p.Arg1103=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1729810	NM_000352.6(ABCC8):c.3289C>T (p.His1097Tyr)	ABCC8 (H1098Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3231260	NM_000352.6(ABCC8):c.3131C>A (p.Thr1044Asn)	ABCC8 (T1043N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 +3 more	GConflicting classifications of pathogenicity
Select item 2239161	NM_000352.6(ABCC8):c.3098T>C (p.Leu1033Pro)	ABCC8 (L1033P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 1798843	NM_000352.6(ABCC8):c.3015C>T (p.Ser1005=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 446767	NM_000352.6(ABCC8):c.3000C>T (p.Cys1000=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +4 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)	Diabetes mellitus, transient neonatal, 2 +7 more	GUncertain significance
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 990395	NM_000352.6(ABCC8):c.2938G>A (p.Glu980Lys)	ABCC8 (E1002K +3 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 3 +7 more	GUncertain significance
Select item 303769	NM_000352.6(ABCC8):c.2937C>T (p.Ser979=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, transient neonatal, 2 +6 more	GConflicting classifications of pathogenicity
Select item 1797243	NM_000352.6(ABCC8):c.2888A>T (p.Asp963Val)	ABCC8 (D962V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 303771	NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn)	ABCC8 (D880N +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +8 more	GConflicting classifications of pathogenicity
Select item 195647	NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Permanent neonatal diabetes mellitus +6 more	GConflicting classifications of pathogenicity
Select item 2277895	NM_000352.6(ABCC8):c.2603T>C (p.Met868Thr)	ABCC8 (M868T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 303773	NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys)	ABCC8, LOC110121471 (Q808K +3 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, transient neonatal, 2 +3 more	GConflicting classifications of pathogenicity
Select item 3128850	NM_000352.6(ABCC8):c.2371A>T (p.Ser791Cys)	ABCC8, LOC110121471 (S790C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 157689	NM_000352.6(ABCC8):c.2277C>T (p.Thr759=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 2137016	NM_000352.6(ABCC8):c.2264G>A (p.Arg755Gln)	ABCC8 (R755Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2184227	NM_000352.6(ABCC8):c.2191C>G (p.Gln731Glu)	ABCC8 (Q730E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1787279	NM_000352.6(ABCC8):c.2181G>A (p.Leu727=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 795504	NM_000352.6(ABCC8):c.2178A>G (p.Ala726=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +3 more	GConflicting classifications of pathogenicity
Select item 2664652	NM_000352.6(ABCC8):c.2162C>G (p.Ser721Trp)	ABCC8 (S720W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307962	NM_000352.6(ABCC8):c.2120A>C (p.Gln707Pro)	ABCC8 (Q729P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1785581	NM_000352.6(ABCC8):c.2082C>G (p.Pro694=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 553929	NM_000352.6(ABCC8):c.2041-21G>A	ABCC8	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 2227029	NM_000352.6(ABCC8):c.2030G>A (p.Cys677Tyr)	ABCC8 (C676Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3128838	NM_000352.6(ABCC8):c.1997T>G (p.Leu666Arg)	ABCC8 (L666R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1783471	NM_000352.6(ABCC8):c.1962G>A (p.Glu654=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 157685	NM_000352.6(ABCC8):c.1926C>G (p.Pro642=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +7 more	GConflicting classifications of pathogenicity
Select item 1600562	NM_000352.6(ABCC8):c.1924-17C>T	ABCC8 (P658L)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, transient neonatal, 2 +6 more	GBenign/Likely benign
Select item 990408	NM_000352.6(ABCC8):c.1923+3G>A	ABCC8	Single nucleotide variant (intron variant)	Transitory neonatal diabetes mellitus +8 more	GUncertain significance
Select item 303780	NM_000352.6(ABCC8):c.1920G>A (p.Ala640=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, transient neonatal, 2 +6 more	GConflicting classifications of pathogenicity
Select item 994764	NM_000352.6(ABCC8):c.1919C>T (p.Ala640Val)	ABCC8 (A639V +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +2 more	GUncertain significance
Select item 596784	NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val)	ABCC8 (A625V +1 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes +3 more	GConflicting classifications of pathogenicity
Select item 1545975	NM_000352.6(ABCC8):c.1788G>T (p.Val596=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1133548	NM_000352.6(ABCC8):c.1767G>A (p.Pro589=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Transitory neonatal diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 1086206	NM_000352.6(ABCC8):c.1764A>T (p.Thr588=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 210070	NM_000352.6(ABCC8):c.1707C>T (p.Ala569=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 751807	NM_000352.6(ABCC8):c.1644G>T (p.Thr548=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 446765	NM_000352.6(ABCC8):c.1634del (p.Phe545fs)	ABCC8 (F544fs +1 more)	Deletion (frameshift variant +1 more)	Type 2 diabetes mellitus +6 more	GConflicting classifications of pathogenicity
Select item 1878337	NM_000352.6(ABCC8):c.1630+1G>A	ABCC8	Single nucleotide variant (splice donor variant)	Hyperinsulinemic hypoglycemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 1772540	NM_000352.6(ABCC8):c.1432G>T (p.Ala478Ser)	ABCC8 (A477S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 210068	NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val)	ABCC8 (I462V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 3304018	NM_000352.6(ABCC8):c.1375A>G (p.Ser459Gly)	ABCC8 (S458G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542399	NM_000352.6(ABCC8):c.1366C>T (p.Leu456Phe)	ABCC8 (L456F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 157682	NM_000352.6(ABCC8):c.1332+4del	ABCC8	Deletion (intron variant)	Transient Neonatal Diabetes, Dominant +5 more	GLikely benign
Select item 1731714	NM_000352.6(ABCC8):c.1142T>C (p.Ile381Thr)	ABCC8 (I380T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3128813	NM_000352.6(ABCC8):c.1094C>T (p.Ala365Val)	ABCC8 (A365V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1111377	NM_000352.6(ABCC8):c.1068C>T (p.Tyr356=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +6 more	GLikely benign
Select item 210066	NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)	ABCC8 (A355T +1 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +6 more	GConflicting classifications of pathogenicity
Select item 1154326	NM_000352.6(ABCC8):c.1023C>T (p.Leu341=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1338594	NM_000352.6(ABCC8):c.973G>A (p.Asp325Asn)	ABCC8 (D324N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GUncertain significance
Select item 1338342	NM_000352.6(ABCC8):c.970G>A (p.Val324Met)	ABCC8 (V323M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2485275	NM_000352.6(ABCC8):c.949C>A (p.Pro317Thr)	ABCC8 (P316T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 730708	NM_000352.6(ABCC8):c.945C>T (p.Ala315=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 1150133	NM_000352.6(ABCC8):c.927C>T (p.Ala309=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign

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