"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ABCC8"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 124

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1094174	NM_000352.6(ABCC8):c.4677C>T (p.Phe1559=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, permanent neonatal 3 +6 more	GLikely benign
Select item 188836	NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)	ABCC8 (L1543P +3 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related condition +6 more	GPathogenic/Likely pathogenic
Select item 1582877	NM_000352.6(ABCC8):c.4434G>A (p.Gly1478=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
Select item 434045	NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)	ABCC8 (G1478R +3 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant hyperinsulinism due to SUR1 deficiency +6 more	GPathogenic/Likely pathogenic
Select item 1144820	NM_000352.6(ABCC8):c.4425A>G (p.Thr1475=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, permanent neonatal 3 +5 more	GLikely benign
Select item 35619	NM_000352.6(ABCC8):c.4412-14C>T	ABCC8	Single nucleotide variant (intron variant)	ABCC8-related condition +10 more	GConflicting classifications of pathogenicity
Select item 1312468	NM_000352.6(ABCC8):c.4342A>G (p.Ser1448Gly)	ABCC8 (S1447G +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +5 more	GUncertain significance
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 989953	NM_000352.6(ABCC8):c.4285G>A (p.Val1429Ile)	ABCC8 (V1428I +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +6 more	GUncertain significance
Select item 1337795	NM_000352.6(ABCC8):c.4267A>G (p.Ile1423Val)	ABCC8 (I1422V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GUncertain significance
Select item 552540	NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His)	ABCC8 (R1418H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 1143901	NM_000352.6(ABCC8):c.4236G>A (p.Leu1412=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, permanent neonatal 3 +5 more	GLikely benign
Select item 1114484	NM_000352.6(ABCC8):c.4152G>A (p.Lys1384=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Leucine-induced hypoglycemia +5 more	GLikely benign
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 9094	NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro)	ABCC8 (R1353P +3 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +5 more	GPathogenic/Likely pathogenic
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, transient neonatal, 2 +7 more	GUncertain significance
Select item 989959	NM_000352.6(ABCC8):c.3988+19G>C	ABCC8	Single nucleotide variant (non-coding transcript variant +1 more)	Type 2 diabetes mellitus +7 more	GConflicting classifications of pathogenicity
Select item 288731	NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys)	ABCC8 (E1326K +3 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes +7 more	GConflicting classifications of pathogenicity
Select item 554962	NM_000352.6(ABCC8):c.3938G>A (p.Arg1313His)	ABCC8 (R1314H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GUncertain significance
Select item 393428	NM_000352.6(ABCC8):c.3875A>G (p.Asn1292Ser)	ABCC8 (N1292S +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +7 more	GUncertain significance
Select item 1668506	NM_000352.6(ABCC8):c.3765T>A (p.Gly1255=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
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 989964	NM_000352.6(ABCC8):c.3649A>G (p.Arg1217Gly)	ABCC8 (R1216G +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +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)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 290581	NM_000352.6(ABCC8):c.3613G>A (p.Glu1205Lys)	ABCC8 (E1205K +3 more)	Single nucleotide variant (missense variant +1 more)	Transitory neonatal diabetes mellitus +7 more	GUncertain significance
Select item 802658	NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val)	ABCC8 (D1193V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 370210	NM_000352.6(ABCC8):c.3574del (p.Asp1192fs)	ABCC8 (D1192fs +3 more)	Deletion (frameshift variant +1 more)	Diabetes mellitus, transient neonatal, 2 +6 more	GPathogenic/Likely pathogenic
Select item 210076	NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp)	ABCC8 (R1182W +3 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, transient neonatal, 2 +7 more	GPathogenic/Likely pathogenic
Select item 764491	NM_000352.6(ABCC8):c.3513C>T (p.Ala1171=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +6 more	GLikely benign
Select item 990389	NM_000352.6(ABCC8):c.3493G>A (p.Val1165Met)	ABCC8 (V1164M +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +4 more	GUncertain significance
Select item 1210344	NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile)	ABCC8 (V1154I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 1116855	NM_000352.6(ABCC8):c.3414G>A (p.Thr1138=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Leucine-induced hypoglycemia +5 more	GLikely benign
Select item 804491	NM_000352.6(ABCC8):c.3413C>T (p.Thr1138Met)	ABCC8 (T1137M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 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)	not provided +7 more	GUncertain significance
Select item 1154102	NM_000352.6(ABCC8):c.3142A>C (p.Arg1048=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
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 1338672	NM_000352.6(ABCC8):c.2975G>C (p.Arg992Pro)	ABCC8 (R1014P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +7 more	GUncertain significance
Select item 990395	NM_000352.6(ABCC8):c.2938G>A (p.Glu980Lys)	ABCC8 (E1002K +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +7 more	GUncertain significance
Select item 1339208	NM_000352.6(ABCC8):c.2929G>A (p.Ala977Thr)	ABCC8 (A976T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1116523	NM_000352.6(ABCC8):c.2916G>A (p.Glu972=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Leucine-induced hypoglycemia +5 more	GLikely benign
Select item 1103775	NM_000352.6(ABCC8):c.2883G>A (p.Ser961=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, permanent neonatal 3 +5 more	GLikely benign
Select item 990396	NM_000352.6(ABCC8):c.2869C>G (p.Arg957Gly)	ABCC8 (R956G +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +6 more	GUncertain significance
Select item 434049	NM_000352.6(ABCC8):c.2858A>C (p.Gln953Pro)	ABCC8 (Q953P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 188905	NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)	ABCC8 (Q953* +3 more)	Single nucleotide variant (nonsense +1 more)	Diabetes mellitus, transient neonatal, 2 +6 more	GPathogenic/Likely pathogenic
Select item 1337542	NM_000352.6(ABCC8):c.2798G>A (p.Arg933Gln)	ABCC8 (R932Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GUncertain significance
Select item 188864	NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)	ABCC8 (R933* +3 more)	Single nucleotide variant (nonsense +1 more)	Diabetes mellitus, transient neonatal, 2 +5 more	GPathogenic/Likely pathogenic
Select item 990397	NM_000352.6(ABCC8):c.2753G>A (p.Arg918Lys)	ABCC8 (R917K +3 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +6 more	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)	Inborn genetic diseases +8 more	GConflicting classifications of pathogenicity
Select item 1148077	NM_000352.6(ABCC8):c.2634C>T (p.Asp878=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
Select item 188915	NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)	ABCC8 (R836* +3 more)	Single nucleotide variant (nonsense +1 more)	Permanent neonatal diabetes mellitus +5 more	GPathogenic/Likely pathogenic
Select item 1626109	NM_000352.6(ABCC8):c.2473C>A (p.Arg825=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	Type 2 diabetes mellitus +5 more	GLikely benign
Select item 1664782	NM_000352.6(ABCC8):c.2391-17G>T	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 1188359	NM_000352.6(ABCC8):c.2390+17G>C	ABCC8, LOC110121471	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 1152010	NM_000352.6(ABCC8):c.2319G>C (p.Ser773=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
Select item 1086716	NM_000352.6(ABCC8):c.2304C>T (p.Pro768=)	ABCC8, LOC110121471	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, permanent neonatal 3 +5 more	GLikely benign
Select item 1134188	NM_000352.6(ABCC8):c.2226T>C (p.Leu742=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
Select item 558288	NM_000352.6(ABCC8):c.2222+15C>A	ABCC8	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 879979	NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys)	ABCC8 (W738C +2 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, transient neonatal, 2 +7 more	GUncertain significance
Select item 877185	NM_000352.6(ABCC8):c.2206G>T (p.Ala736Ser)	ABCC8 (A736S +2 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, transient neonatal, 2 +8 more	GUncertain significance
Select item 434050	NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr)	ABCC8 (A726T +2 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, transient neonatal, 2 +6 more	GConflicting classifications of pathogenicity
Select item 157688	NM_000352.6(ABCC8):c.2117-3C>T	ABCC8	Single nucleotide variant (intron variant)	Leucine-induced hypoglycemia +7 more	GBenign
Select item 1337205	NM_000352.6(ABCC8):c.1973G>T (p.Gly658Val)	ABCC8 (G657V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 552764	NM_000352.6(ABCC8):c.1970G>A (p.Arg657Gln)	ABCC8 (R657Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GUncertain significance
Select item 1338082	NM_000352.6(ABCC8):c.1942C>T (p.Arg648Cys)	ABCC8 (R647C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GUncertain significance
Select item 1600562	NM_000352.6(ABCC8):c.1924-17C>T	ABCC8 (P658L)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +6 more	GBenign/Likely benign
Select item 990408	NM_000352.6(ABCC8):c.1923+3G>A	ABCC8	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +7 more	GUncertain significance
Select item 1179142	NM_000352.6(ABCC8):c.1893del (p.Gln632fs)	ABCC8 (Q631fs +1 more)	Deletion (frameshift variant +1 more)	Diabetes mellitus, permanent neonatal 3 +4 more	GPathogenic
Select item 370909	NM_000352.6(ABCC8):c.1879del (p.His627fs)	ABCC8 (H627fs +1 more)	Deletion (frameshift variant +1 more)	Diabetes mellitus, transient neonatal, 2 +5 more	GPathogenic
Select item 1107444	NM_000352.6(ABCC8):c.1800C>T (p.Thr600=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
Select item 434056	NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter)	ABCC8 (R598* +1 more)	Single nucleotide variant (nonsense +1 more)	Diabetes mellitus, transient neonatal, 2 +7 more	GPathogenic
Select item 1516993	NM_000352.6(ABCC8):c.1766C>T (p.Pro589Leu)	ABCC8 (P589L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 991050	NM_000352.6(ABCC8):c.1666C>T (p.Leu556Phe)	ABCC8 (L555F +1 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +6 more	GUncertain significance
Select item 1132494	NM_000352.6(ABCC8):c.1662T>G (p.Ala554=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
Select item 1076249	NM_000352.6(ABCC8):c.1647del (p.Ile550fs)	ABCC8 (I549fs +1 more)	Deletion (frameshift variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 370604	NM_000352.6(ABCC8):c.1630+1G>T	ABCC8	Single nucleotide variant (splice donor variant)	Diabetes mellitus, transient neonatal, 2 +5 more	GPathogenic
Select item 1151791	NM_000352.6(ABCC8):c.1581G>A (p.Arg527=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
Select item 553752	NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys)	ABCC8 (R526C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 1334167	NM_000352.6(ABCC8):c.1531C>G (p.Leu511Val)	ABCC8 (L510V +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +5 more	GUncertain significance
Select item 991052	NM_000352.6(ABCC8):c.1457G>A (p.Arg486Gln)	ABCC8 (R485Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 991054	NM_000352.6(ABCC8):c.1412C>T (p.Ala471Val)	ABCC8 (A470V +1 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +4 more	GUncertain significance
Select item 1071311	NM_000352.6(ABCC8):c.1332G>T (p.Gln444His)	ABCC8 (Q443H +1 more)	Single nucleotide variant (missense variant +1 more)	Leucine-induced hypoglycemia +5 more	GPathogenic/Likely pathogenic
Select item 434055	NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter)	ABCC8 (M429* +1 more)	Duplication (nonsense +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +6 more	GPathogenic
Select item 1102419	NM_000352.6(ABCC8):c.1281G>A (p.Gln427=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, permanent neonatal 3 +5 more	GLikely benign
Select item 210067	NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)	ABCC8 (C418R +1 more)	Single nucleotide variant (missense variant +1 more)	ABCC8-related condition +8 more	GConflicting classifications of pathogenicity
Select item 1336020	NM_000352.6(ABCC8):c.1189A>C (p.Asn397His)	ABCC8 (N396H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 1111377	NM_000352.6(ABCC8):c.1068C>T (p.Tyr356=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Diabetes mellitus, permanent neonatal 3 +5 more	GLikely benign
Select item 991057	NM_000352.6(ABCC8):c.1024G>A (p.Gly342Arg)	ABCC8 (G341R +1 more)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +4 more	GUncertain significance
Select item 1338594	NM_000352.6(ABCC8):c.973G>A (p.Asp325Asn)	ABCC8 (D324N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +6 more	GUncertain significance
Select item 1687413	NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg)	ABCC8 (G315R +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +5 more	GConflicting classifications of pathogenicity
Select item 585352	NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn)	ABCC8 (D310N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GLikely pathogenic
Select item 1677456	NM_000352.6(ABCC8):c.916C>A (p.Arg306Ser)	ABCC8 (R305S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 1673251	NM_000352.6(ABCC8):c.894C>A (p.Arg298=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	Type 2 diabetes mellitus +5 more	GLikely benign
Select item 633025	NM_000352.6(ABCC8):c.892C>T (p.Arg298Cys)	ABCC8 (R298C +1 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +8 more	GUncertain significance
Select item 35624	NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg)	ABCC8 (G296R +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinemic hypoglycemia, familial, 1 +6 more	GUncertain significance
Select item 1121620	NM_000352.6(ABCC8):c.822+7G>A	ABCC8	Single nucleotide variant (intron variant)	Leucine-induced hypoglycemia +5 more	GLikely benign
Select item 991061	NM_000352.6(ABCC8):c.822+3C>T	ABCC8	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +6 more	GUncertain significance
Select item 1321361	NM_000352.6(ABCC8):c.806C>A (p.Ala269Asp)	ABCC8 (A269D)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +5 more	GUncertain significance
Select item 1538965	NM_000352.6(ABCC8):c.795G>T (p.Arg265=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
Select item 880150	NM_000352.6(ABCC8):c.787T>G (p.Tyr263Asp)	ABCC8 (Y263D)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, transient neonatal, 2 +5 more	GUncertain significance
Select item 806626	NM_000352.6(ABCC8):c.765C>T (p.Ile255=)	ABCC8	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign

<< First< Prev

Page of 2