Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro)	SNV Germline	Chr11:17396980	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Leucine-induced hypoglycemia Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal, 2	Criteria Provided Multiple Submitters No Conflicts	CA254629	rs_28936370	4 SubmittersRCV000009662 RCV001851769 RCV002504772
NM_000352.6(ABCC8):c.4055G>A (p.Arg1352His)	SNV Germline	Chr11:17396980	Likely pathogenic	Leucine-induced hypoglycemia Condition: not provided Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA120108	rs_28936370	3 SubmittersRCV000009666 RCV001851770 RCV003466845
NM_000352.6(ABCC8):c.4120-19C>T	SNV Germline/somatic	Chr11:17395949	Conflicting classifications of pathogenicity	not specified Hereditary hyperinsulinism Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Hyperinsulinemia Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Conflicting Classifications	CA171080	rs_1800853	10 SubmittersRCV000144997 RCV001277183 RCV001533256 RCV001533258 RCV001533259 RCV002226656 RCV001523332 RCV001533257
NM_000352.6(ABCC8):c.413-5G>A	SNV Germline	Chr11:17463609	Conflicting classifications of pathogenicity	Neonatal diabetes mellitus Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Condition: not provided not specified Inborn genetic diseases Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA213453	rs_186946111	6 SubmittersRCV000029260 RCV000763721 RCV000876485 RCV001818179 RCV002513234 RCV002254151 RCV002254150
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)	SNV Germline	Chr11:17395611	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Hereditary hyperinsulinism Condition: not provided Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA260104	rs_193922402	8 SubmittersRCV000169593 RCV001826509 RCV001818181 RCV002477010 RCV003466874
NM_000352.6(ABCC8):c.4412-14C>T	SNV Germline/somatic	Chr11:17394413	Conflicting classifications of pathogenicity	Neonatal diabetes mellitus not specified Hereditary hyperinsulinism Maturity onset diabetes mellitus in young Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal, 2 Transitory neonatal diabetes mellitus Condition: not provided ABCC8-related disorder	Criteria Provided Conflicting Classifications	CA213463	rs_193922404	7 SubmittersRCV000029266 RCV000517239 RCV001274287 RCV002243667 RCV002482906 RCV002243668 RCV003556088 RCV004541018
NM_000352.6(ABCC8):c.1686C>T (p.His562=)	SNV Germline/somatic	Chr11:17430945	Conflicting classifications of pathogenicity	not specified Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Hereditary hyperinsulinism Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Cerebral edema	Criteria Provided Conflicting Classifications	CA171042	rs_1799857	11 SubmittersRCV000144979 RCV000402117 RCV000302706 RCV000576376 RCV001520136 RCV001272238 RCV001533248 RCV001533249 RCV002226677
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=)	SNV Germline/somatic	Chr11:17428382	Conflicting classifications of pathogenicity	not specified Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, permanent neonatal 3 Hereditary hyperinsulinism Leucine-induced hypoglycemia Condition: not provided Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA171048	rs_1799858	10 SubmittersRCV000144981 RCV000286519 RCV000378609 RCV000576654 RCV001533247 RCV001272235 RCV001533246 RCV001512802 RCV002226678
NM_000352.6(ABCC8):c.207T>C (p.Pro69=)	SNV Germline/somatic	Chr11:17474969	Conflicting classifications of pathogenicity	not specified Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Condition: not provided Hereditary hyperinsulinism Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Hyperinsulinemia	Criteria Provided Conflicting Classifications	CA171051	rs_1048099	12 SubmittersRCV000144982 RCV000314568 RCV000334473 RCV000405380 RCV000576854 RCV001272249 RCV001533252 RCV001533269 RCV002226679
NM_000352.6(ABCC8):c.2820+17A>G	SNV Germline	Chr11:17408375	Conflicting classifications of pathogenicity	not specified Condition: not provided Leucine-induced hypoglycemia Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA171066	rs_2106865	9 SubmittersRCV000144989 RCV000576868 RCV001533276 RCV001533277 RCV001533278 RCV001533279 RCV002273961 RCV002251435
NM_000352.6(ABCC8):c.4120-27T>C	SNV Germline/somatic	Chr11:17395957	Conflicting classifications of pathogenicity	not specified Leucine-induced hypoglycemia Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA171081	rs_739689	4 SubmittersRCV000144998 RCV001533260 RCV001533261 RCV001533262 RCV001533263 RCV001682843 RCV002243802 RCV002243803
NM_000352.6(ABCC8):c.4609-40A>G	SNV Germline/somatic	Chr11:17393168	Conflicting classifications of pathogenicity	not specified Diabetes mellitus, permanent neonatal 3 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA171085	rs_1109591	4 SubmittersRCV000145002 RCV001533243 RCV001533240 RCV001533242 RCV001533241 RCV001610440 RCV002243804 RCV002243805
NM_000352.6(ABCC8):c.579+14C>T	SNV Germline/somatic	Chr11:17463424	Conflicting classifications of pathogenicity	not specified Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Condition: not provided Diabetes mellitus, permanent neonatal 3 Leucine-induced hypoglycemia Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA171092	rs_2301703	10 SubmittersRCV000145005 RCV000286439 RCV000340412 RCV000378527 RCV000576808 RCV001533251 RCV001533250 RCV002226684
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)	SNV Germline	Chr11:17393109	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Hereditary hyperinsulinism Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus ABCC8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274017	rs_72559713	8 SubmittersRCV000169185 RCV000800626 RCV001826866 RCV002492687 RCV003468836 RCV004535147
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)	SNV Germline	Chr11:17407417	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Familial hyperinsulinism Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA274108	rs_541269678	11 SubmittersRCV000169265 RCV001040693 RCV000780808 RCV002505223 RCV004567366
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)	SNV Germline	Chr11:17408415	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA248480	rs_570388861	8 SubmittersRCV000169216 RCV000201910 RCV002492688 RCV003468837
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)	SNV Germline/somatic	Chr11:17412716	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Hereditary hyperinsulinism Neonatal diabetes mellitus Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA248477	rs_72559722	14 SubmittersRCV000169276 RCV000201895 RCV000763234 RCV001277195 RCV004555856 RCV003462267
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp)	SNV Germline	Chr11:17404525	Pathogenic/Likely pathogenic	Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Condition: not provided Familial hyperinsulinism	Criteria Provided Multiple Submitters No Conflicts	CA206064	rs_797045209	6 SubmittersRCV000192916 RCV001640282 RCV002051825 RCV002500586 RCV002517038 RCV003987437
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)	SNV Germline	Chr11:17448596	Conflicting classifications of pathogenicity	not specified Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Diabetes mellitus, permanent neonatal 3 Hereditary hyperinsulinism Type 2 diabetes mellitus Hypoglycemia ABCC8-related disorder	Criteria Provided Conflicting Classifications	CA205176	rs_67254669	15 SubmittersRCV000192390 RCV000710372 RCV000666629 RCV000763720 RCV001102903 RCV001102904 RCV001449652 RCV001272242 RCV001336810 RCV003491936 RCV004530090
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys)	SNV Germline	Chr11:17397205	Conflicting classifications of pathogenicity	Condition: not provided Monogenic diabetes not specified Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Leucine-induced hypoglycemia	Criteria Provided Conflicting Classifications	CA5902631	rs_200563930	6 SubmittersRCV000339446 RCV000664136 RCV002282111 RCV001810444 RCV002494880
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn)	SNV Germline	Chr11:17410575	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 not specified Inborn genetic diseases Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA5903065	rs_531684936	5 SubmittersRCV000290773 RCV000331715 RCV000386179 RCV001820892 RCV002520700 RCV002480109 RCV002520699
NM_000352.6(ABCC8):c.1630+1G>T	SNV Germline	Chr11:17442719	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Hereditary hyperinsulinism Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA5903512	rs_773306994	6 SubmittersRCV000411351 RCV000816954 RCV001272240 RCV002502422 RCV003475953
NM_000352.6(ABCC8):c.220C>T (p.Arg74Trp)	SNV Germline	Chr11:17474956	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Familial hyperinsulinism Hereditary hyperinsulinism Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA5903947	rs_201682634	7 SubmittersRCV000409175 RCV001203709 RCV002230219 RCV001828376 RCV002502430 RCV003463804
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)	SNV Germline	Chr11:17394379	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Condition: not provided Autosomal dominant hyperinsulinism due to SUR1 deficiency Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA218406864	rs_72559715	8 SubmittersRCV000503504 RCV000763232 RCV000710389 RCV001848864 RCV003470623
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr)	SNV Germline	Chr11:17427095	Conflicting classifications of pathogenicity	not specified Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Hereditary hyperinsulinism Condition: not provided	Criteria Provided Conflicting Classifications	CA5903282	rs_138687850	8 SubmittersRCV000501008 RCV000763719 RCV001102697 RCV001102698 RCV001102699 RCV001278414 RCV002056831
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter)	SNV Germline	Chr11:17430839	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Familial hyperinsulinism Hereditary hyperinsulinism Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus ABCC8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA5903454	rs_139328569	11 SubmittersRCV000500331 RCV001380990 RCV001797741 RCV001829422 RCV002496936 RCV003470626 RCV004535574
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)	SNV Germline	Chr11:17476715	Pathogenic/Likely pathogenic	Familial hyperinsulinism Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Hereditary hyperinsulinism Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus ABCC8-related disorder Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA5903992	rs_200670692	8 SubmittersRCV000588969 RCV000666072 RCV001386147 RCV001829617 RCV002491164 RCV004545790 RCV003459458
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)	SNV Germline	Chr11:17474955	Pathogenic	Familial hyperinsulinism Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA5903946	rs_72559734	9 SubmittersRCV000586584 RCV000710375 RCV000984140 RCV000763236 RCV003459457
NM_000352.6(ABCC8):c.2222+15C>A	SNV Germline	Chr11:17427034	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Leucine-induced hypoglycemia	Criteria Provided Conflicting Classifications		rs_377174421	3 SubmittersRCV000674532 RCV002531354 RCV002477510
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile)	SNV Germline	Chr11:17461719	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Condition: not provided Type 2 diabetes mellitus not specified	Criteria Provided Conflicting Classifications		rs_768017509	5 SubmittersRCV000672033 RCV002507174 RCV002531303 RCV003459633 RCV003987660
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His)	SNV Germline	Chr11:17395664	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts		rs_1446306735	5 SubmittersRCV000667823 RCV001202457 RCV002485539 RCV003459588
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys)	SNV Germline	Chr11:17442774	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Familial hyperinsulinism Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts		rs_751279984	6 SubmittersRCV000669267 RCV001383751 RCV002477497 RCV003230568 RCV003459609
NM_000352.6(ABCC8):c.290+2T>C	SNV Unknown	Chr11:17474884	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1554948310	3 SubmittersRCV000667474 RCV000763235 RCV002254308 RCV002254307
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn)	SNV Germline	Chr11:17460571	Likely pathogenic	Condition: not provided Hereditary hyperinsulinism Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Multiple Submitters No Conflicts		rs_769569410	7 SubmittersRCV000710397 RCV001825411 RCV002255099 RCV002499280 RCV003321726
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter)	SNV Germline	Chr11:17461663	Pathogenic/Likely pathogenic	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Hereditary hyperinsulinism Leucine-induced hypoglycemia Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts		rs_72559730	7 SubmittersRCV000710396 RCV001192814 RCV001825410 RCV002493256 RCV003465649
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln)	SNV Germline	Chr11:17402670	Pathogenic/Likely pathogenic	Familial hyperinsulinism Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Hereditary hyperinsulinism Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts		rs_367850779	8 SubmittersRCV000779674 RCV001290313 RCV001388601 RCV001277187 RCV002501017 RCV003467307
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val)	SNV Germline	Chr11:17402733	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 not specified Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3	Criteria Provided Conflicting Classifications		rs_139486832	7 SubmittersRCV000988489 RCV001819694 RCV002549713 RCV002488079
NM_000352.6(ABCC8):c.382G>A (p.Glu128Lys)	SNV Germline	Chr11:17470131	Pathogenic/Likely pathogenic	Condition: not provided Hereditary hyperinsulinism Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts		rs_781617345	5 SubmittersRCV001058712 RCV001832528 RCV002497433 RCV003321793 RCV003462576
NM_000352.6(ABCC8):c.3454G>A (p.Ala1152Thr)	SNV Germline/somatic	Chr11:17404615	Conflicting classifications of pathogenicity	Leucine-induced hypoglycemia Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1954422814	2 SubmittersRCV001253090 RCV002245903 RCV002245904
NM_000352.6(ABCC8):c.3988+19G>C	SNV Germline/somatic	Chr11:17397174	Conflicting classifications of pathogenicity	Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal, 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_576340695	4 SubmittersRCV001277867 RCV002246152 RCV002246151 RCV002499466 RCV003738031
NM_000352.6(ABCC8):c.255G>A (p.Leu85=)	SNV Germline	Chr11:17474921	Conflicting classifications of pathogenicity	Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal, 2	Criteria Provided Conflicting Classifications		rs_1323334420	4 SubmittersRCV001279208 RCV002254347 RCV002254346 RCV002542919 RCV002486054
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His)	SNV Germline	Chr11:17448516	Pathogenic/Likely pathogenic	Condition: not provided Hereditary hyperinsulinism Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Leucine-induced hypoglycemia Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts		rs_760062120	4 SubmittersRCV001383753 RCV001826165 RCV002499797 RCV003469700
NM_000352.6(ABCC8):c.4119+93G>T	SNV Germline	Chr11:17396823	Conflicting classifications of pathogenicity	Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, permanent neonatal 3 Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_4148644	3 SubmittersRCV001533264 RCV001533266 RCV001533265 RCV001533267 RCV001615252 RCV002285180 RCV002285181
NM_000352.6(ABCC8):c.2390+219T>C	SNV Germline	Chr11:17414293	Conflicting classifications of pathogenicity	Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_4148632	3 SubmittersRCV001533282 RCV001533222 RCV001533220 RCV001533221 RCV001615250 RCV002285176 RCV002285177
NM_000352.6(ABCC8):c.2390+123C>T	SNV Germline	Chr11:17414389	Conflicting classifications of pathogenicity	Diabetes mellitus, permanent neonatal 3 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_4148631	3 SubmittersRCV001533226 RCV001533223 RCV001533225 RCV001533224 RCV001615251 RCV002285178 RCV002285179
NM_000352.6(ABCC8):c.2390+93C>T	SNV Germline	Chr11:17414419	Conflicting classifications of pathogenicity	Leucine-induced hypoglycemia Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_4148630	3 SubmittersRCV001533227 RCV001533228 RCV001533229 RCV001533230 RCV001655817 RCV002286529 RCV002286530
NM_000352.6(ABCC8):c.2256-50T>C	SNV Germline	Chr11:17415389	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_4148626	3 SubmittersRCV001533232 RCV001533231 RCV001533233 RCV001533234 RCV001707891 RCV002286532 RCV002286531
NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile)	SNV Germline	Chr11:17404606	Conflicting classifications of pathogenicity	Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 not specified Condition: not provided Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications		rs_759961510	4 SubmittersRCV001580619 RCV001580618 RCV002266006 RCV002569104 RCV002495927
NM_000352.6(ABCC8):c.1189A>C (p.Asn397His)	SNV Germline	Chr11:17448659	Conflicting classifications of pathogenicity	not specified Condition: not provided Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications		rs_199763382	4 SubmittersRCV001822202 RCV002274217 RCV002503312
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)	SNV Germline	Chr11:17470175	Conflicting classifications of pathogenicity	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications		rs_2133711315	4 SubmittersRCV001817966 RCV002503329 RCV003464153
NM_000352.6(ABCC8):c.2929G>A (p.Ala977Thr)	SNV Germline	Chr11:17407121	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Condition: not provided	Criteria Provided Conflicting Classifications		rs_568576108	3 SubmittersRCV001823662 RCV002503332 RCV002542743
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter)	SNV Germline	Chr11:17476732	Pathogenic/Likely pathogenic	Condition: not provided Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Type 2 diabetes mellitus ABCC8-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_758231286	4 SubmittersRCV001910791 RCV002490136 RCV003475146 RCV004538586
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg)	SNV Germline	Chr11:17474968	Conflicting classifications of pathogenicity	Condition: not provided Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 ABCC8-related disorder	Criteria Provided Conflicting Classifications		rs_764349043	5 SubmittersRCV002224395 RCV002487022 RCV004533977
NM_000352.6(ABCC8):c.4090G>T (p.Val1364Phe)	SNV Somatic	Chr11:17396945	Conflicting classifications of pathogenicity	Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications		rs_138642224	2 SubmittersRCV002245266 RCV002274250 RCV002488625
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg)	SNV Germline	Chr11:17460553	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Familial hyperinsulinism	Criteria Provided Conflicting Classifications		rs_1201126343	4 SubmittersRCV002251095 RCV002496184 RCV003403755

NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro)

SNV
Germline

Chr11:17396980

Pathogenic/Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, permanent neonatal 3
Diabetes mellitus, transient neonatal, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA254629

rs_28936370

4 SubmittersRCV000009662 RCV001851769 RCV002504772

NM_000352.6(ABCC8):c.4055G>A (p.Arg1352His)

SNV
Germline

Chr11:17396980

Likely pathogenic

Leucine-induced hypoglycemia
Condition: not provided
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA120108

rs_28936370

3 SubmittersRCV000009666 RCV001851770 RCV003466845

NM_000352.6(ABCC8):c.4120-19C>T

SNV
Germline/somatic

Chr11:17395949

Conflicting classifications of pathogenicity

not specified
Hereditary hyperinsulinism
Leucine-induced hypoglycemia
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, permanent neonatal 3
Hyperinsulinemia
Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Conflicting Classifications

CA171080

rs_1800853

10 SubmittersRCV000144997 RCV001277183 RCV001533256 RCV001533258 RCV001533259 RCV002226656 RCV001523332 RCV001533257

NM_000352.6(ABCC8):c.413-5G>A

SNV
Germline

Chr11:17463609

Conflicting classifications of pathogenicity

Neonatal diabetes mellitus
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Condition: not provided
not specified
Inborn genetic diseases
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA213453

rs_186946111

6 SubmittersRCV000029260 RCV000763721 RCV000876485 RCV001818179 RCV002513234 RCV002254151 RCV002254150

NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)

SNV
Germline

Chr11:17395611

Pathogenic/Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Hereditary hyperinsulinism
Condition: not provided
Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Diabetes mellitus, permanent neonatal 3
Diabetes mellitus, transient neonatal, 2
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA260104

rs_193922402

8 SubmittersRCV000169593 RCV001826509 RCV001818181 RCV002477010 RCV003466874

NM_000352.6(ABCC8):c.4412-14C>T

SNV
Germline/somatic

Chr11:17394413

Conflicting classifications of pathogenicity

Neonatal diabetes mellitus
not specified
Hereditary hyperinsulinism
Maturity onset diabetes mellitus in young
Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Diabetes mellitus, permanent neonatal 3
Diabetes mellitus, transient neonatal, 2
Transitory neonatal diabetes mellitus
Condition: not provided
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

CA213463

rs_193922404

7 SubmittersRCV000029266 RCV000517239 RCV001274287 RCV002243667 RCV002482906 RCV002243668 RCV003556088 RCV004541018

NM_000352.6(ABCC8):c.1686C>T (p.His562=)

SNV
Germline/somatic

Chr11:17430945

Conflicting classifications of pathogenicity

not specified
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Hereditary hyperinsulinism
Leucine-induced hypoglycemia
Diabetes mellitus, permanent neonatal 3
Cerebral edema

Criteria Provided
Conflicting Classifications

CA171042

rs_1799857

11 SubmittersRCV000144979 RCV000402117 RCV000302706 RCV000576376 RCV001520136 RCV001272238 RCV001533248 RCV001533249 RCV002226677

NM_000352.6(ABCC8):c.1947G>A (p.Lys649=)

SNV
Germline/somatic

Chr11:17428382

Conflicting classifications of pathogenicity

not specified
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, permanent neonatal 3
Hereditary hyperinsulinism
Leucine-induced hypoglycemia
Condition: not provided
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA171048

rs_1799858

10 SubmittersRCV000144981 RCV000286519 RCV000378609 RCV000576654 RCV001533247 RCV001272235 RCV001533246 RCV001512802 RCV002226678

NM_000352.6(ABCC8):c.207T>C (p.Pro69=)

SNV
Germline/somatic

Chr11:17474969

Conflicting classifications of pathogenicity

not specified
Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Condition: not provided
Hereditary hyperinsulinism
Leucine-induced hypoglycemia
Diabetes mellitus, permanent neonatal 3
Hyperinsulinemia

Criteria Provided
Conflicting Classifications

CA171051

rs_1048099

12 SubmittersRCV000144982 RCV000314568 RCV000334473 RCV000405380 RCV000576854 RCV001272249 RCV001533252 RCV001533269 RCV002226679

NM_000352.6(ABCC8):c.2820+17A>G

SNV
Germline

Chr11:17408375

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Leucine-induced hypoglycemia
Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, permanent neonatal 3
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA171066

rs_2106865

9 SubmittersRCV000144989 RCV000576868 RCV001533276 RCV001533277 RCV001533278 RCV001533279 RCV002273961 RCV002251435

NM_000352.6(ABCC8):c.4120-27T>C

SNV
Germline/somatic

Chr11:17395957

Conflicting classifications of pathogenicity

not specified
Leucine-induced hypoglycemia
Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, permanent neonatal 3
Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA171081

rs_739689

4 SubmittersRCV000144998 RCV001533260 RCV001533261 RCV001533262 RCV001533263 RCV001682843 RCV002243802 RCV002243803

NM_000352.6(ABCC8):c.4609-40A>G

SNV
Germline/somatic

Chr11:17393168

Conflicting classifications of pathogenicity

not specified
Diabetes mellitus, permanent neonatal 3
Leucine-induced hypoglycemia
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA171085

rs_1109591

4 SubmittersRCV000145002 RCV001533243 RCV001533240 RCV001533242 RCV001533241 RCV001610440 RCV002243804 RCV002243805

NM_000352.6(ABCC8):c.579+14C>T

SNV
Germline/somatic

Chr11:17463424

Conflicting classifications of pathogenicity

not specified
Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Condition: not provided
Diabetes mellitus, permanent neonatal 3
Leucine-induced hypoglycemia
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA171092

rs_2301703

10 SubmittersRCV000145005 RCV000286439 RCV000340412 RCV000378527 RCV000576808 RCV001533251 RCV001533250 RCV002226684

NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)

SNV
Germline

Chr11:17393109

Pathogenic/Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Hereditary hyperinsulinism
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
Diabetes mellitus, permanent neonatal 3
Type 2 diabetes mellitus
ABCC8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA274017

rs_72559713

8 SubmittersRCV000169185 RCV000800626 RCV001826866 RCV002492687 RCV003468836 RCV004535147

NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)

SNV
Germline

Chr11:17407417

Pathogenic/Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Familial hyperinsulinism
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
Diabetes mellitus, permanent neonatal 3
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA274108

rs_541269678

11 SubmittersRCV000169265 RCV001040693 RCV000780808 RCV002505223 RCV004567366

NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)

SNV
Germline

Chr11:17408415

Pathogenic/Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, permanent neonatal 3
Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA248480

rs_570388861

8 SubmittersRCV000169216 RCV000201910 RCV002492688 RCV003468837

NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)

SNV
Germline/somatic

Chr11:17412716

Pathogenic/Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
Hereditary hyperinsulinism
Neonatal diabetes mellitus
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA248477

rs_72559722

14 SubmittersRCV000169276 RCV000201895 RCV000763234 RCV001277195 RCV004555856 RCV003462267

NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp)

SNV
Germline

Chr11:17404525

Pathogenic/Likely pathogenic

Diabetes mellitus, transient neonatal, 2
Type 2 diabetes mellitus
Neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
Diabetes mellitus, permanent neonatal 3
Condition: not provided
Familial hyperinsulinism

Criteria Provided
Multiple Submitters
No Conflicts

CA206064

rs_797045209

6 SubmittersRCV000192916 RCV001640282 RCV002051825 RCV002500586 RCV002517038 RCV003987437

NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)

SNV
Germline

Chr11:17448596

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
Diabetes mellitus, permanent neonatal 3
Hereditary hyperinsulinism
Type 2 diabetes mellitus
Hypoglycemia
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

CA205176

rs_67254669

15 SubmittersRCV000192390 RCV000710372 RCV000666629 RCV000763720 RCV001102903 RCV001102904 RCV001449652 RCV001272242 RCV001336810 RCV003491936 RCV004530090

NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys)

SNV
Germline

Chr11:17397205

Conflicting classifications of pathogenicity

Condition: not provided
Monogenic diabetes
not specified
Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Type 2 diabetes mellitus
Diabetes mellitus, permanent neonatal 3
Leucine-induced hypoglycemia

Criteria Provided
Conflicting Classifications

CA5902631

rs_200563930

6 SubmittersRCV000339446 RCV000664136 RCV002282111 RCV001810444 RCV002494880

NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn)

SNV
Germline

Chr11:17410575

Conflicting classifications of pathogenicity

Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
not specified
Inborn genetic diseases
Diabetes mellitus, transient neonatal, 2
Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Diabetes mellitus, permanent neonatal 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5903065

rs_531684936

5 SubmittersRCV000290773 RCV000331715 RCV000386179 RCV001820892 RCV002520700 RCV002480109 RCV002520699

NM_000352.6(ABCC8):c.1630+1G>T

SNV
Germline

Chr11:17442719

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Hereditary hyperinsulinism
Diabetes mellitus, permanent neonatal 3
Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Diabetes mellitus, transient neonatal, 2
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA5903512

rs_773306994

6 SubmittersRCV000411351 RCV000816954 RCV001272240 RCV002502422 RCV003475953

NM_000352.6(ABCC8):c.220C>T (p.Arg74Trp)

SNV
Germline

Chr11:17474956

Pathogenic/Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Familial hyperinsulinism
Hereditary hyperinsulinism
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, permanent neonatal 3
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA5903947

rs_201682634

7 SubmittersRCV000409175 RCV001203709 RCV002230219 RCV001828376 RCV002502430 RCV003463804

NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)

SNV
Germline

Chr11:17394379

Pathogenic/Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Type 2 diabetes mellitus
Condition: not provided
Autosomal dominant hyperinsulinism due to SUR1 deficiency
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA218406864

rs_72559715

8 SubmittersRCV000503504 RCV000763232 RCV000710389 RCV001848864 RCV003470623

NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr)

SNV
Germline

Chr11:17427095

Conflicting classifications of pathogenicity

not specified
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Hereditary hyperinsulinism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5903282

rs_138687850

8 SubmittersRCV000501008 RCV000763719 RCV001102697 RCV001102698 RCV001102699 RCV001278414 RCV002056831

NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter)

SNV
Germline

Chr11:17430839

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Familial hyperinsulinism
Hereditary hyperinsulinism
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Diabetes mellitus, transient neonatal, 2
Type 2 diabetes mellitus
Diabetes mellitus, permanent neonatal 3
Type 2 diabetes mellitus
ABCC8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA5903454

rs_139328569

11 SubmittersRCV000500331 RCV001380990 RCV001797741 RCV001829422 RCV002496936 RCV003470626 RCV004535574

NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)

SNV
Germline

Chr11:17476715

Pathogenic/Likely pathogenic

Familial hyperinsulinism
Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Hereditary hyperinsulinism
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, permanent neonatal 3
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
ABCC8-related disorder
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA5903992

rs_200670692

8 SubmittersRCV000588969 RCV000666072 RCV001386147 RCV001829617 RCV002491164 RCV004545790 RCV003459458

NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)

SNV
Germline

Chr11:17474955

Pathogenic

Familial hyperinsulinism
Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Type 2 diabetes mellitus
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA5903946

rs_72559734

9 SubmittersRCV000586584 RCV000710375 RCV000984140 RCV000763236 RCV003459457

NM_000352.6(ABCC8):c.2222+15C>A

SNV
Germline

Chr11:17427034

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Type 2 diabetes mellitus
Diabetes mellitus, permanent neonatal 3
Leucine-induced hypoglycemia

Criteria Provided
Conflicting Classifications

rs_377174421

3 SubmittersRCV000674532 RCV002531354 RCV002477510

NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile)

SNV
Germline

Chr11:17461719

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, permanent neonatal 3
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
Condition: not provided
Type 2 diabetes mellitus
not specified

Criteria Provided
Conflicting Classifications

rs_768017509

5 SubmittersRCV000672033 RCV002507174 RCV002531303 RCV003459633 RCV003987660

NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His)

SNV
Germline

Chr11:17395664

Pathogenic/Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, permanent neonatal 3
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

rs_1446306735

5 SubmittersRCV000667823 RCV001202457 RCV002485539 RCV003459588

NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys)

SNV
Germline

Chr11:17442774

Pathogenic/Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, permanent neonatal 3
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
Familial hyperinsulinism
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

rs_751279984

6 SubmittersRCV000669267 RCV001383751 RCV002477497 RCV003230568 RCV003459609

NM_000352.6(ABCC8):c.290+2T>C

SNV
Unknown

Chr11:17474884

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_1554948310

3 SubmittersRCV000667474 RCV000763235 RCV002254308 RCV002254307

NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn)

SNV
Germline

Chr11:17460571

Likely pathogenic

Condition: not provided
Hereditary hyperinsulinism
Type 2 diabetes mellitus
Diabetes mellitus, permanent neonatal 3
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_769569410

7 SubmittersRCV000710397 RCV001825411 RCV002255099 RCV002499280 RCV003321726

NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter)

SNV
Germline

Chr11:17461663

Pathogenic/Likely pathogenic

Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1
Hereditary hyperinsulinism
Leucine-induced hypoglycemia
Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, transient neonatal, 2
Type 2 diabetes mellitus
Diabetes mellitus, permanent neonatal 3
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

rs_72559730

7 SubmittersRCV000710396 RCV001192814 RCV001825410 RCV002493256 RCV003465649

NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln)

SNV
Germline

Chr11:17402670

Pathogenic/Likely pathogenic

Familial hyperinsulinism
Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Hereditary hyperinsulinism
Type 2 diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, permanent neonatal 3
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

rs_367850779

8 SubmittersRCV000779674 RCV001290313 RCV001388601 RCV001277187 RCV002501017 RCV003467307

NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val)

SNV
Germline

Chr11:17402733

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
not specified
Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, permanent neonatal 3

Criteria Provided
Conflicting Classifications

rs_139486832

7 SubmittersRCV000988489 RCV001819694 RCV002549713 RCV002488079

NM_000352.6(ABCC8):c.382G>A (p.Glu128Lys)

SNV
Germline

Chr11:17470131

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary hyperinsulinism
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, permanent neonatal 3
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

rs_781617345

5 SubmittersRCV001058712 RCV001832528 RCV002497433 RCV003321793 RCV003462576

NM_000352.6(ABCC8):c.3454G>A (p.Ala1152Thr)

SNV
Germline/somatic

Chr11:17404615

Conflicting classifications of pathogenicity

Leucine-induced hypoglycemia
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_1954422814

2 SubmittersRCV001253090 RCV002245903 RCV002245904

NM_000352.6(ABCC8):c.3988+19G>C

SNV
Germline/somatic

Chr11:17397174

Conflicting classifications of pathogenicity

Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Diabetes mellitus, permanent neonatal 3
Diabetes mellitus, transient neonatal, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_576340695

4 SubmittersRCV001277867 RCV002246152 RCV002246151 RCV002499466 RCV003738031

NM_000352.6(ABCC8):c.255G>A (p.Leu85=)

SNV
Germline

Chr11:17474921

Conflicting classifications of pathogenicity

Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Condition: not provided
Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Diabetes mellitus, permanent neonatal 3
Diabetes mellitus, transient neonatal, 2

Criteria Provided
Conflicting Classifications

rs_1323334420

4 SubmittersRCV001279208 RCV002254347 RCV002254346 RCV002542919 RCV002486054

NM_000352.6(ABCC8):c.1332G>T (p.Gln444His)

SNV
Germline

Chr11:17448516

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary hyperinsulinism
Diabetes mellitus, transient neonatal, 2
Type 2 diabetes mellitus
Diabetes mellitus, permanent neonatal 3
Leucine-induced hypoglycemia
Hyperinsulinemic hypoglycemia, familial, 1
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

rs_760062120

4 SubmittersRCV001383753 RCV001826165 RCV002499797 RCV003469700

NM_000352.6(ABCC8):c.4119+93G>T

SNV
Germline

Chr11:17396823

Conflicting classifications of pathogenicity

Leucine-induced hypoglycemia
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, permanent neonatal 3
Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_4148644

3 SubmittersRCV001533264 RCV001533266 RCV001533265 RCV001533267 RCV001615252 RCV002285180 RCV002285181

NM_000352.6(ABCC8):c.2390+219T>C

SNV
Germline

Chr11:17414293

Conflicting classifications of pathogenicity

Leucine-induced hypoglycemia
Diabetes mellitus, permanent neonatal 3
Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, transient neonatal, 2
Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_4148632

3 SubmittersRCV001533282 RCV001533222 RCV001533220 RCV001533221 RCV001615250 RCV002285176 RCV002285177

NM_000352.6(ABCC8):c.2390+123C>T

SNV
Germline

Chr11:17414389

Conflicting classifications of pathogenicity

Diabetes mellitus, permanent neonatal 3
Leucine-induced hypoglycemia
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_4148631

3 SubmittersRCV001533226 RCV001533223 RCV001533225 RCV001533224 RCV001615251 RCV002285178 RCV002285179

NM_000352.6(ABCC8):c.2390+93C>T

SNV
Germline

Chr11:17414419

Conflicting classifications of pathogenicity

Leucine-induced hypoglycemia
Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, permanent neonatal 3
Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_4148630

3 SubmittersRCV001533227 RCV001533228 RCV001533229 RCV001533230 RCV001655817 RCV002286529 RCV002286530

NM_000352.6(ABCC8):c.2256-50T>C

SNV
Germline

Chr11:17415389

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, permanent neonatal 3
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_4148626

3 SubmittersRCV001533232 RCV001533231 RCV001533233 RCV001533234 RCV001707891 RCV002286532 RCV002286531

NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile)

SNV
Germline

Chr11:17404606

Conflicting classifications of pathogenicity

Diabetes mellitus, permanent neonatal 3
Hyperinsulinemic hypoglycemia, familial, 1
not specified
Condition: not provided
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, permanent neonatal 3
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_759961510

4 SubmittersRCV001580619 RCV001580618 RCV002266006 RCV002569104 RCV002495927

NM_000352.6(ABCC8):c.1189A>C (p.Asn397His)

SNV
Germline

Chr11:17448659

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Diabetes mellitus, permanent neonatal 3
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_199763382

4 SubmittersRCV001822202 RCV002274217 RCV002503312

NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)

SNV
Germline

Chr11:17470175

Conflicting classifications of pathogenicity

Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, permanent neonatal 3
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_2133711315

4 SubmittersRCV001817966 RCV002503329 RCV003464153

NM_000352.6(ABCC8):c.2929G>A (p.Ala977Thr)

SNV
Germline

Chr11:17407121

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, permanent neonatal 3
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_568576108

3 SubmittersRCV001823662 RCV002503332 RCV002542743

NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter)

SNV
Germline

Chr11:17476732

Pathogenic/Likely pathogenic

Condition: not provided
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, permanent neonatal 3
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
Type 2 diabetes mellitus
ABCC8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_758231286

4 SubmittersRCV001910791 RCV002490136 RCV003475146 RCV004538586

NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg)

SNV
Germline

Chr11:17474968

Conflicting classifications of pathogenicity

Condition: not provided
Diabetes mellitus, transient neonatal, 2
Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Diabetes mellitus, permanent neonatal 3
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

rs_764349043

5 SubmittersRCV002224395 RCV002487022 RCV004533977

NM_000352.6(ABCC8):c.4090G>T (p.Val1364Phe)

SNV
Somatic

Chr11:17396945

Conflicting classifications of pathogenicity

Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Leucine-induced hypoglycemia
Diabetes mellitus, permanent neonatal 3
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_138642224

2 SubmittersRCV002245266 RCV002274250 RCV002488625

NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg)

SNV
Germline

Chr11:17460553

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Diabetes mellitus, permanent neonatal 3
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Type 2 diabetes mellitus
Familial hyperinsulinism

Criteria Provided
Conflicting Classifications

rs_1201126343

4 SubmittersRCV002251095 RCV002496184 RCV003403755