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.4307G>A (p.Arg1436Gln)	SNV Germline	Chr11:17395610	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Familial hyperinsulinism Hereditary hyperinsulinism Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA254627	rs_387906407	10 SubmittersRCV000009654 RCV001040039 RCV001260357 RCV001826455 RCV003466843
NM_000352.6(ABCC8):c.3989-9G>A	SNV Germline	Chr11:17397055	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Familial hyperinsulinism Inborn genetic diseases Hereditary hyperinsulinism Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, permanent neonatal 3 ABCC8-related disorder Type 2 diabetes mellitus Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia	Criteria Provided Multiple Submitters No Conflicts	CA233276	rs_151344623	20 SubmittersRCV000009656 RCV000144995 RCV000590487 RCV001267446 RCV001277185 RCV002467491 RCV004532316 RCV003473069 RCV005049326 RCV005357102
NM_000352.6(ABCC8):c.2292-1G>A	SNV Germline	Chr11:17414611	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Familial hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA379809823	rs_1564905676	3 SubmittersRCV000009658 RCV001328359 RCV002251423 RCV002251422
NM_000352.6(ABCC8):c.1672-20A>G	SNV Germline	Chr11:17430979	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Type 2 diabetes mellitus Familial hyperinsulinism	Criteria Provided Conflicting Classifications	CA597666381	rs_931436550	8 SubmittersRCV000009659 RCV001851768 RCV002266899 RCV002266898 RCV003460445 RCV004525849
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro)	SNV Germline	Chr11:17396980	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3	Criteria Provided Multiple Submitters No Conflicts	CA254629	rs_28936370	4 SubmittersRCV000009662 RCV001851769 RCV002504772
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)	SNV Germline	Chr11:17395659	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Diabetes mellitus, permanent neonatal 3 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Hereditary hyperinsulinism Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA254631	rs_28938469	9 SubmittersRCV000009663 RCV001235181 RCV005042018 RCV001831557 RCV003473070
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp)	SNV Germline/somatic	Chr11:17394334	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 Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA254633	rs_28936371	10 SubmittersRCV000009664 RCV000710390 RCV001831558 RCV005042019 RCV004549354 RCV003466844
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys)	SNV Germline	Chr11:17394295	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA248483	rs_137852671	7 SubmittersRCV000009665 RCV000201911
NM_000352.6(ABCC8):c.4055G>A (p.Arg1352His)	SNV Germline	Chr11:17396980	Conflicting classifications of pathogenicity	Leucine-induced hypoglycemia Condition: not provided Type 2 diabetes mellitus Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3	Criteria Provided Conflicting Classifications	CA120108	rs_28936370	5 SubmittersRCV000009666 RCV001851770 RCV003466845 RCV005042020
NM_000352.6(ABCC8):c.560T>A (p.Val187Asp)	SNV Germline	Chr11:17463457	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA254635	rs_137852672	7 SubmittersRCV000009667 RCV000723825 RCV005042021 RCV003473071
NM_000352.6(ABCC8):c.2147G>T (p.Gly716Val)	SNV Germline	Chr11:17427124	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided	No Assertion Criteria Provided	CA220124	rs_72559723	2 SubmittersRCV000009655 RCV000077845
NM_000352.6(ABCC8):c.-19A>G	SNV Germline	Chr11:17476795	Conflicting classifications of pathogenicity	not specified Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA213433	rs_193922394	5 SubmittersRCV000242519 RCV000267816 RCV000382247 RCV000325185 RCV001668134 RCV002254149 RCV002254148
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=)	SNV Germline	Chr11:17442778	Conflicting classifications of pathogenicity	not specified Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Hereditary hyperinsulinism Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA213434	rs_61748766	10 SubmittersRCV000242823 RCV000295869 RCV000334556 RCV000402755 RCV000710373 RCV001826508 RCV002266903 RCV002266904
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys)	SNV Germline	Chr11:17442734	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Maturity onset diabetes mellitus in young Condition: not provided Transitory neonatal diabetes mellitus Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3	Criteria Provided Conflicting Classifications	CA213441	rs_193922397	5 SubmittersRCV001823102 RCV002266905 RCV003137542 RCV002266906 RCV005042085
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln)	SNV Germline	Chr11:17404524	Pathogenic/Likely pathogenic	Neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Multiple Submitters No Conflicts	CA207783	rs_193922400	5 SubmittersRCV000029257 RCV000193953 RCV001388602 RCV003989301
NM_000352.6(ABCC8):c.4120-19C>T	SNV Germline/somatic	Chr11:17395949	Conflicting classifications of pathogenicity	not specified Hereditary hyperinsulinism Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, permanent neonatal 3 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Hyperinsulinemia	Criteria Provided Conflicting Classifications	CA171080	rs_1800853	10 SubmittersRCV000144997 RCV001277183 RCV001523332 RCV001533257 RCV001533259 RCV001533256 RCV001533258 RCV002226656
NM_000352.6(ABCC8):c.413-5G>A	SNV Germline	Chr11:17463609	Conflicting classifications of pathogenicity	Condition: not provided Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA213453	rs_186946111	6 SubmittersRCV000876485 RCV000763721 RCV002254151 RCV002254150 RCV001818179 RCV002513234
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)	SNV Germline	Chr11:17395852	Pathogenic/Likely pathogenic	Diabetes mellitus, permanent neonatal 3 Familial hyperinsulinism Condition: not provided Hereditary hyperinsulinism Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3	Criteria Provided Multiple Submitters No Conflicts	CA260102	rs_137852676	10 SubmittersRCV000009657 RCV000029263 RCV001390783 RCV001277179 RCV003466873 RCV003321485 RCV005042088
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 Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia 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	not specified Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 ABCC8-related disorder	Criteria Provided Conflicting Classifications	CA213463	rs_193922404	7 SubmittersRCV000517239 RCV001274287 RCV002243668 RCV002243667 RCV003556088 RCV002482906 RCV004541018
NM_000352.6(ABCC8):c.4451G>A (p.Gly1484Glu)	SNV Germline/somatic	Chr11:17394360	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided	Criteria Provided Conflicting Classifications	CA260107	rs_193922405	3 SubmittersRCV000029267 RCV002243670 RCV002243669 RCV004998106
NM_000352.6(ABCC8):c.1333-1013A>G	SNV Germline	Chr11:17444325	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3	Criteria Provided Multiple Submitters No Conflicts	CA218446294	rs_980458021	5 SubmittersRCV000032668 RCV001211946 RCV003466885 RCV005042102
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=)	SNV Germline	Chr11:17453137	Conflicting classifications of pathogenicity	not specified Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Hereditary hyperinsulinism	Criteria Provided Conflicting Classifications	CA171036	rs_60824529	8 SubmittersRCV000144976 RCV000328896 RCV000367291 RCV000276247 RCV000710370 RCV002259700 RCV002253239 RCV001826796
NM_000352.6(ABCC8):c.1686C>T (p.His562=)	SNV Germline/somatic	Chr11:17430945	Conflicting classifications of pathogenicity	not specified Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Diabetes mellitus, permanent neonatal 3 Hereditary hyperinsulinism Cerebral edema Leucine-induced hypoglycemia	Criteria Provided Conflicting Classifications	CA171042	rs_1799857	11 SubmittersRCV000144979 RCV000302706 RCV000402117 RCV000576376 RCV001520136 RCV001533249 RCV001272238 RCV002226677 RCV001533248
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=)	SNV Germline/somatic	Chr11:17428403	Conflicting classifications of pathogenicity	not specified Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA171045	rs_75376282	9 SubmittersRCV000144980 RCV000347248 RCV000289964 RCV000381876 RCV000967194 RCV001272236 RCV002266926 RCV002266925 RCV002408645
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=)	SNV Germline/somatic	Chr11:17428382	Conflicting classifications of pathogenicity	not specified Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Hereditary hyperinsulinism Diabetes mellitus, permanent neonatal 3 Condition: not provided Leucine-induced hypoglycemia Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA171048	rs_1799858	10 SubmittersRCV000144981 RCV000378609 RCV000286519 RCV000576654 RCV001272235 RCV001533247 RCV001512802 RCV001533246 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 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Hereditary hyperinsulinism Hyperinsulinemia	Criteria Provided Conflicting Classifications	CA171051	rs_1048099	12 SubmittersRCV000144982 RCV000314568 RCV000334473 RCV000405380 RCV000576854 RCV001533252 RCV001533269 RCV001272249 RCV002226679
NM_000352.6(ABCC8):c.2538C>T (p.His846=)	SNV Germline/somatic	Chr11:17412684	Conflicting classifications of pathogenicity	not specified Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA171062	rs_73423037	7 SubmittersRCV000144987 RCV000396687 RCV000279197 RCV000338883 RCV000865324 RCV002243798 RCV002243799
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.3612C>T (p.Ala1204=)	SNV Germline/somatic	Chr11:17402699	Conflicting classifications of pathogenicity	not specified Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA171071	rs_149861153	10 SubmittersRCV000144993 RCV000283418 RCV000337179 RCV000377901 RCV000710381 RCV001277188 RCV002243801 RCV002243800 RCV002453465
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 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA171081	rs_739689	4 SubmittersRCV000144998 RCV001533260 RCV001533261 RCV001533262 RCV001533263 RCV001682843 RCV002243803 RCV002243802
NM_000352.6(ABCC8):c.423G>A (p.Val141=)	SNV Germline	Chr11:17463594	Conflicting classifications of pathogenicity	not specified Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Condition: not provided Hereditary hyperinsulinism Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA171082	rs_116132921	9 SubmittersRCV000145000 RCV000277787 RCV000297828 RCV000370073 RCV000710387 RCV001272246 RCV002254155 RCV003105797
NM_000352.6(ABCC8):c.579+14C>T	SNV Germline/somatic	Chr11:17463424	Conflicting classifications of pathogenicity	not specified Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Condition: not provided Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Leucine-induced hypoglycemia	Criteria Provided Conflicting Classifications	CA171092	rs_2301703	10 SubmittersRCV000145005 RCV000378527 RCV000286439 RCV000340412 RCV000576808 RCV001533251 RCV002226684 RCV001533250
NM_000352.6(ABCC8):c.823-8C>T	SNV Germline	Chr11:17460684	Conflicting classifications of pathogenicity	not specified Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided ABCC8-related disorder	Criteria Provided Conflicting Classifications	CA171093	rs_201000679	5 SubmittersRCV000145006 RCV002273818 RCV002253240 RCV002467586 RCV002514783 RCV004532639
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)	SNV Germline	Chr11:17393109	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Hereditary hyperinsulinism Type 2 diabetes mellitus ABCC8-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274017	rs_72559713	8 SubmittersRCV000169185 RCV002492687 RCV001826866 RCV003468836 RCV004535147 RCV000800626
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn)	SNV Germline	Chr11:17395172	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Familial hyperinsulinism Hereditary hyperinsulinism Condition: not provided ABCC8-related disorder 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	CA274147	rs_72559716	9 SubmittersRCV000169299 RCV000586940 RCV001277177 RCV001385864 RCV004545752 RCV003468839 RCV005042353
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)	SNV Germline	Chr11:17407417	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Familial hyperinsulinism Condition: not provided Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Multiple Submitters No Conflicts	CA274108	rs_541269678	12 SubmittersRCV000169265 RCV000780808 RCV001040693 RCV004567366 RCV002505223
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 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus 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 Hereditary hyperinsulinism Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus 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	Criteria Provided Multiple Submitters No Conflicts	CA248477	rs_72559722	14 SubmittersRCV000169276 RCV000201895 RCV001277195 RCV000763234 RCV003462267 RCV004555856 RCV005042352
NM_000352.6(ABCC8):c.2116+2T>C	SNV Germline	Chr11:17427865	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Multiple Submitters No Conflicts	CA274353	rs_786204676	4 SubmittersRCV000169482 RCV001376866 RCV004556759 RCV002251436
NM_000352.6(ABCC8):c.291-2A>G	SNV Germline	Chr11:17470224	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Type 2 diabetes mellitus Condition: not provided Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA274374	rs_786204695	5 SubmittersRCV000169506 RCV002254282 RCV004567370 RCV000802759 RCV002254156
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)	SNV Germline	Chr11:17410600	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Condition: not provided Hereditary hyperinsulinism Inborn genetic diseases Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Conflicting Classifications	CA242142	rs_111967655	8 SubmittersRCV000296584 RCV000351650 RCV000176259 RCV001274297 RCV003165366 RCV002251441 RCV002251440 RCV000406499
NM_000352.6(ABCC8):c.4119+1G>A	SNV Germline	Chr11:17396915	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter	CA277130	rs_797045211	2 SubmittersRCV000193386
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 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Condition: not provided Familial hyperinsulinism ABCC8-related disorder MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 12 Diabetes mellitus, permanent neonatal 3	Criteria Provided Multiple Submitters No Conflicts	CA206064	rs_797045209	8 SubmittersRCV000192916 RCV001640282 RCV002051825 RCV002500586 RCV002517038 RCV003987437 RCV005230050 RCV005410894 RCV005410893
NM_000352.6(ABCC8):c.2117-1G>A	SNV Germline	Chr11:17427155	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA277400	rs_797045207	3 SubmittersRCV000194857 RCV003462298 RCV003556242
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=)	SNV Germline	Chr11:17430924	Conflicting classifications of pathogenicity	not specified Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Diabetes mellitus, permanent neonatal 3 Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA205213	rs_147623093	12 SubmittersRCV000192409 RCV000299115 RCV000356211 RCV000394777 RCV000951012 RCV001507324 RCV001272237 RCV002266930 RCV002266929 RCV002399710
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val)	SNV Germline	Chr11:17443261	Conflicting classifications of pathogenicity	not specified Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Hereditary hyperinsulinism Type 2 diabetes mellitus Condition: not provided ABCC8-related disorder Inborn genetic diseases Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Pulmonary arterial hypertension	Criteria Provided Conflicting Classifications	CA207378	rs_117874766	11 SubmittersRCV000193705 RCV000360233 RCV000303097 RCV000396751 RCV001279195 RCV001336811 RCV001546216 RCV004734847 RCV002514096 RCV004558438 RCV005365113
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)	SNV Germline	Chr11:17448596	Conflicting classifications of pathogenicity	not specified Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Condition: not provided Hereditary hyperinsulinism Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Diabetes mellitus, permanent neonatal 3 Hypoglycemia ABCC8-related disorder Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Pulmonary arterial hypertension	Criteria Provided Conflicting Classifications	CA205176	rs_67254669	17 SubmittersRCV000192390 RCV000666629 RCV000763720 RCV000710372 RCV001272242 RCV001336810 RCV001102903 RCV001102904 RCV001449652 RCV003491936 RCV004530090 RCV005042408 RCV005361103
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)	SNV Germline	Chr11:17453232	Conflicting classifications of pathogenicity	not specified Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Hereditary hyperinsulinism Permanent neonatal diabetes mellitus Inborn genetic diseases 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 Conflicting Classifications	CA208474	rs_145136257	14 SubmittersRCV000194352 RCV000333629 RCV000662059 RCV000710368 RCV001835716 RCV000279694 RCV002517037 RCV000662058 RCV005042407
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)	SNV Germline	Chr11:17463454	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Hereditary hyperinsulinism Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia	Criteria Provided Multiple Submitters No Conflicts	CA276976	rs_797045213	11 SubmittersRCV000192482 RCV000517846 RCV001833135 RCV003227708 RCV004567393 RCV005049469
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)	SNV Germline	Chr11:17470182	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Familial hyperinsulinism Type 2 diabetes mellitus Condition: not provided Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia	Criteria Provided Multiple Submitters No Conflicts	CA277230	rs_761749884	9 SubmittersRCV000193936 RCV001804929 RCV003468881 RCV001068772 RCV005042410
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg)	SNV Germline	Chr11:17474937	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Leucine-induced hypoglycemia Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Conflicting Classifications	CA277044	rs_797045208	3 SubmittersRCV000192892 RCV005042409
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)	SNV Germline	Chr11:17461722	Pathogenic/Likely pathogenic	Condition: not provided Familial hyperinsulinism Hyperinsulinemic hypoglycemia, familial, 1 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 Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA279580	rs_863225280	8 SubmittersRCV000201871 RCV000590369 RCV000984139 RCV002253285 RCV005042434 RCV003462355
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln)	SNV Germline	Chr11:17460675	Conflicting classifications of pathogenicity	Condition: not provided Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hereditary hyperinsulinism not specified Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia	Criteria Provided Conflicting Classifications	CA5903742	rs_185040406	10 SubmittersRCV000369588 RCV000490279 RCV000671927 RCV001108196 RCV001108197 RCV001279202 RCV001818510 RCV004796105
NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp)	SNV Germline	Chr11:17402671	Pathogenic	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Familial hyperinsulinism Hereditary hyperinsulinism Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA5902756	rs_139964066	6 SubmittersRCV000223959 RCV000666191 RCV000588494 RCV001828097 RCV003469115
NM_000352.6(ABCC8):c.354C>T (p.Val118=)	SNV Germline	Chr11:17470159	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided not specified Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5903902	rs_137873871	10 SubmittersRCV000265731 RCV000377126 RCV000323715 RCV000710380 RCV000254079 RCV001272248 RCV002254159 RCV002254158 RCV002450766
NM_000352.6(ABCC8):c.-8G>T	SNV Germline	Chr11:17476784	Conflicting classifications of pathogenicity	not specified Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Condition: not provided	Criteria Provided Conflicting Classifications	CA5904006	rs_200091822	6 SubmittersRCV000245897 RCV000302860 RCV000359986 RCV000264204 RCV001532154
NM_000352.6(ABCC8):c.4146T>G (p.Ser1382Arg)	SNV Germline	Chr11:17395904	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	No Assertion Criteria Provided	CA10588932	rs_886039877	1 SubmittersRCV000256388
NM_000352.6(ABCC8):c.4308-2A>G	SNV Germline	Chr11:17395277	Pathogenic/Likely pathogenic	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Maturity onset diabetes mellitus in young Neonatal diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA10603180	rs_886041391	5 SubmittersRCV000334836 RCV000984137 RCV002274007 RCV004556774
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys)	SNV Germline	Chr11:17397205	Conflicting classifications of pathogenicity	Condition: not provided Monogenic diabetes not specified 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	Criteria Provided Conflicting Classifications	CA5902631	rs_200563930	6 SubmittersRCV000339446 RCV000664136 RCV002282111 RCV002494880 RCV001810444
NM_000352.6(ABCC8):c.4647C>T (p.Ile1549=)	SNV Germline/somatic	Chr11:17393090	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5902392	rs_367862706	4 SubmittersRCV000259922 RCV000317437 RCV000357088 RCV002244754 RCV002244753 RCV000979519 RCV002338878
NM_000352.6(ABCC8):c.3399+13G>A	SNV Germline/somatic	Chr11:17405481	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 not specified Transitory neonatal diabetes mellitus Condition: not provided Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA5902838	rs_182340196	7 SubmittersRCV000261950 RCV000321738 RCV000672176 RCV000455279 RCV002244773 RCV001519906 RCV002244772
NM_000352.6(ABCC8):c.3224T>C (p.Ile1075Thr)	SNV Germline/somatic	Chr11:17406727	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA5902881	rs_745895362	2 SubmittersRCV000287952 RCV000346537 RCV000382269 RCV002250620 RCV002250619
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn)	SNV Germline	Chr11:17410575	Conflicting classifications of pathogenicity	Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 not specified Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5903065	rs_531684936	6 SubmittersRCV000331715 RCV000386179 RCV000290773 RCV001820892 RCV002480109 RCV002520699 RCV002520700
NM_000352.6(ABCC8):c.2256-3C>T	SNV Germline	Chr11:17415342	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA5903234	rs_756328102	2 SubmittersRCV000280533 RCV000315649 RCV000374966 RCV002251458 RCV002251457
NM_000352.6(ABCC8):c.2256-9C>T	SNV Germline	Chr11:17415348	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Maturity onset diabetes mellitus in young Condition: not provided Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA10630470	rs_886048052	3 SubmittersRCV000286566 RCV000340459 RCV000376418 RCV002251459 RCV002520702 RCV002251460
NM_000352.6(ABCC8):c.2060C>T (p.Thr687Met)	SNV Germline	Chr11:17427923	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA5903318	rs_150316347	3 SubmittersRCV000276185 RCV000314838 RCV000367366 RCV000871729 RCV002251461 RCV002251462
NM_000352.6(ABCC8):c.1605C>T (p.Ala535=)	SNV Germline	Chr11:17442745	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA10630471	rs_886048055	3 SubmittersRCV000293105 RCV000330959 RCV000387749 RCV002266948 RCV002056181 RCV002266949
NM_000352.6(ABCC8):c.486C>T (p.Ile162=)	SNV Germline	Chr11:17463531	Conflicting classifications of pathogenicity	Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus ABCC8-related disorder not specified	Criteria Provided Conflicting Classifications	CA5903864	rs_149872185	5 SubmittersRCV000312282 RCV000347325 RCV000396828 RCV000918189 RCV002254160 RCV002254521 RCV004544511 RCV005418070
NM_000352.6(ABCC8):c.4690A>G (p.Lys1564Glu)	SNV Germline	Chr11:17393047	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Condition: not provided Permanent neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA5902382	rs_770317560	2 SubmittersRCV000275583 RCV000318584 RCV002520698 RCV000367803
NM_000352.6(ABCC8):c.4605C>T (p.Ile1535=)	SNV Germline/somatic	Chr11:17393700	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA5902423	rs_780203284	3 SubmittersRCV000287014 RCV000321052 RCV000379102 RCV001476298 RCV002244756 RCV002244755
NM_000352.6(ABCC8):c.4239G>T (p.Pro1413=)	SNV Germline	Chr11:17395678	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Hereditary hyperinsulinism	Criteria Provided Conflicting Classifications	CA5902525	rs_373478721	5 SubmittersRCV000354588 RCV000297318 RCV000975624 RCV000399523 RCV001277178
NM_000352.6(ABCC8):c.4119+15C>T	SNV Germline/somatic	Chr11:17396901	Conflicting classifications of pathogenicity	Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Condition: not provided Maturity onset diabetes mellitus in young not specified Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA5902577	rs_58368439	5 SubmittersRCV000265605 RCV000327754 RCV000384793 RCV002056179 RCV002244759 RCV004586673 RCV002244760
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=)	SNV Germline/somatic	Chr11:17397206	Conflicting classifications of pathogenicity	Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 not specified Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5902632	rs_138141427	8 SubmittersRCV000299357 RCV000340284 RCV000401324 RCV000501079 RCV000872611 RCV002246117 RCV002246116 RCV002374518
NM_000352.6(ABCC8):c.3858C>T (p.Tyr1286=)	SNV Germline/somatic	Chr11:17397693	Conflicting classifications of pathogenicity	Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Condition: not provided ABCC8-related disorder Maturity onset diabetes mellitus in young Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5902682	rs_377045545	6 SubmittersRCV000275432 RCV000310742 RCV000365441 RCV002246121 RCV000915714 RCV004537708 RCV002246120 RCV002356417
NM_000352.6(ABCC8):c.3552G>A (p.Ala1184=)	SNV Germline/somatic	Chr11:17404517	Conflicting classifications of pathogenicity	Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 not specified Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA5902784	rs_144207158	4 SubmittersRCV000273585 RCV000314454 RCV000368056 RCV000502198 RCV000932525 RCV002244769 RCV002244768
NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys)	SNV Germline	Chr11:17413447	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Inborn genetic diseases Permanent neonatal diabetes mellitus Condition: not provided	Criteria Provided Conflicting Classifications	CA5903144	rs_202189540	5 SubmittersRCV000310642 RCV000273521 RCV005044566 RCV004021505 RCV000368130 RCV005051772
NM_000352.6(ABCC8):c.2041-12C>T	SNV Germline	Chr11:17427954	Conflicting classifications of pathogenicity	Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 not specified Hereditary hyperinsulinism Condition: not provided ABCC8-related disorder	Criteria Provided Conflicting Classifications	CA5903321	rs_201419039	8 SubmittersRCV000318223 RCV000260794 RCV000353291 RCV000517738 RCV001272234 RCV001414351 RCV004544510
NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr)	SNV Germline	Chr11:17442813	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided Transitory neonatal diabetes mellitus ABCC8-related disorder Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3	Criteria Provided Conflicting Classifications	CA5903536	rs_761748692	7 SubmittersRCV000280602 RCV000337979 RCV000396760 RCV002266950 RCV002520703 RCV002266951 RCV004537710 RCV005044567
NM_000352.6(ABCC8):c.413-15A>G	SNV Germline	Chr11:17463619	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus Condition: not provided	Criteria Provided Conflicting Classifications	CA5903875	rs_758744263	3 SubmittersRCV000262641 RCV000320143 RCV000354986 RCV002254290 RCV002254161 RCV003736699
NM_000352.6(ABCC8):c.3989-10C>T	SNV Germline/somatic	Chr11:17397056	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus not specified Condition: not provided Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA5902604	rs_373737642	5 SubmittersRCV000279547 RCV000334553 RCV000397452 RCV002246115 RCV003323504 RCV000942711 RCV002244761
NM_000352.6(ABCC8):c.3558-8C>T	SNV Germline/somatic	Chr11:17402761	Conflicting classifications of pathogenicity	Permanent neonatal diabetes mellitus 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	CA5902766	rs_544550330	3 SubmittersRCV000308839 RCV000344478 RCV000396524 RCV000883975 RCV002244766 RCV002244767
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=)	SNV Germline/somatic	Chr11:17404634	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Inborn genetic diseases not specified ABCC8-related disorder	Criteria Provided Conflicting Classifications	CA5902807	rs_371089976	7 SubmittersRCV000260467 RCV000315723 RCV000369085 RCV000941651 RCV002244771 RCV002244770 RCV002450850 RCV005238873 RCV004537709
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn)	SNV Germline/somatic	Chr11:17406938	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Maturity onset diabetes mellitus in young Condition: not provided Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3	Criteria Provided Conflicting Classifications	CA5902919	rs_367974472	6 SubmittersRCV000292832 RCV000352427 RCV000394844 RCV002250621 RCV002056180 RCV001278400 RCV002251452 RCV005044564
NM_000352.6(ABCC8):c.2694+15G>A	SNV Germline	Chr11:17410501	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided	Criteria Provided Conflicting Classifications	CA10637950	rs_886048051	3 SubmittersRCV000269894 RCV000324985 RCV000384255 RCV002251456 RCV002251455 RCV003708509
NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys)	SNV Germline/somatic	Chr11:17412722	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided	Criteria Provided Conflicting Classifications	CA5903107	rs_140068774	4 SubmittersRCV000303371 RCV000339611 RCV000396695 RCV002244775 RCV002244774 RCV002520701
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=)	SNV Germline	Chr11:17428568	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5903396	rs_146156937	8 SubmittersRCV000295518 RCV000352596 RCV000404181 RCV000590129 RCV002266945 RCV002266944 RCV003298364
NM_000352.6(ABCC8):c.105G>A (p.Pro35=)	SNV Germline	Chr11:17476672	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Hereditary hyperinsulinism Maturity onset diabetes mellitus in young ABCC8-related disorder not specified Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA5903981	rs_199925058	7 SubmittersRCV000299216 RCV000356645 RCV000394438 RCV000899129 RCV001276289 RCV002254164 RCV004537712 RCV001820893 RCV002254165
NM_000352.6(ABCC8):c.-49G>C	SNV Germline	Chr11:17476825	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA5904014	rs_77498130	3 SubmittersRCV000271414 RCV000328844 RCV000385742 RCV001660591 RCV002254292 RCV002254291
NM_000352.6(ABCC8):c.4199-8C>T	SNV Germline/somatic	Chr11:17395726	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA10638595	rs_886048048	3 SubmittersRCV000266607 RCV000324311 RCV000358028 RCV001495943 RCV002244757 RCV002244758
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile)	SNV Germline	Chr11:17396945	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Condition: not provided ABCC8-related disorder Hereditary hyperinsulinism Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 not specified	Criteria Provided Conflicting Classifications	CA5902586	rs_138642224	9 SubmittersRCV000349002 RCV000296366 RCV000710383 RCV004734966 RCV001833441 RCV005044563 RCV000387248 RCV001820891
NM_000352.6(ABCC8):c.3951C>G (p.Leu1317=)	SNV Germline/somatic	Chr11:17397230	Conflicting classifications of pathogenicity	Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Transitory neonatal diabetes mellitus Condition: not provided Maturity onset diabetes mellitus in young Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5902636	rs_765708759	4 SubmittersRCV000269973 RCV000305055 RCV000359920 RCV002246119 RCV000877067 RCV002246118 RCV002356416
NM_000352.6(ABCC8):c.2937C>T (p.Ser979=)	SNV Germline	Chr11:17407113	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Transitory neonatal diabetes mellitus Inborn genetic diseases Maturity onset diabetes mellitus in young Condition: not provided	Criteria Provided Conflicting Classifications	CA5902966	rs_780868010	4 SubmittersRCV000264215 RCV000323996 RCV000359855 RCV002251454 RCV004021504 RCV002251453 RCV002522189
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln)	SNV Germline	Chr11:17428371	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Hereditary hyperinsulinism not specified	Criteria Provided Conflicting Classifications	CA5903364	rs_146378237	6 SubmittersRCV000264134 RCV000321571 RCV000375215 RCV000876083 RCV001274299 RCV005418069
NM_000352.6(ABCC8):c.291-3C>T	SNV Germline	Chr11:17470225	Conflicting classifications of pathogenicity	Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 not specified Condition: not provided Maturity onset diabetes mellitus in young ABCC8-related disorder Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA5903915	rs_764107333	6 SubmittersRCV000291838 RCV000349251 RCV000383921 RCV000499468 RCV000710052 RCV002254162 RCV004537711 RCV002254163
NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln)	SNV Germline	Chr11:17394333	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA16041433	rs_746480424	6 SubmittersRCV000411593 RCV001383606 RCV003470337
NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter)	SNV Germline	Chr11:17395230	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Condition: not provided Neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA16041435	rs_1057516404	5 SubmittersRCV000409836 RCV003475943 RCV001380090 RCV004556782 RCV002244843
NM_000352.6(ABCC8):c.4021C>T (p.Gln1341Ter)	SNV Germline/somatic	Chr11:17397014	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Maturity onset diabetes mellitus in young Condition: not provided Transitory neonatal diabetes mellitus Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA16041439	rs_1057516718	5 SubmittersRCV000411306 RCV002244849 RCV003558361 RCV002244850 RCV003470332
NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter)	SNV Germline	Chr11:17398344	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Familial hyperinsulinism Hereditary hyperinsulinism Condition: not provided Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3	Criteria Provided Multiple Submitters No Conflicts	CA16041440	rs_1057516281	7 SubmittersRCV000410347 RCV000779675 RCV001828371 RCV001821133 RCV003463787 RCV005049532
NM_000352.6(ABCC8):c.3400-1G>A	SNV Germline	Chr11:17404670	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Hereditary hyperinsulinism Familial hyperinsulinism Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3	Criteria Provided Multiple Submitters No Conflicts	CA16041444	rs_576684889	7 SubmittersRCV000409731 RCV001066925 RCV001277191 RCV001797710 RCV003470338 RCV005044612
NM_000352.6(ABCC8):c.3108G>A (p.Trp1036Ter)	SNV Germline/somatic	Chr11:17406942	Conflicting classifications of pathogenicity	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA16041445	rs_1057516585	3 SubmittersRCV001388603 RCV000411424 RCV002251469 RCV002251468
NM_000352.6(ABCC8):c.2695-1G>C	SNV Germline	Chr11:17408518	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Familial hyperinsulinism Maturity onset diabetes mellitus in young Condition: not provided Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA16041446	rs_1057517420	5 SubmittersRCV000409858 RCV003470354 RCV000588002 RCV002251474 RCV002523883 RCV002251475
NM_000352.6(ABCC8):c.2255+2T>C	SNV Germline	Chr11:17416928	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Maturity onset diabetes mellitus in young Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Condition: not provided Type 2 diabetes mellitus Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA16041448	rs_1057516589	5 SubmittersRCV000411947 RCV002251470 RCV005044609 RCV001210957 RCV003475950 RCV002251471
NM_000352.6(ABCC8):c.1671+1G>C	SNV Germline	Chr11:17432203	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Familial hyperinsulinism Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA16041451	rs_1057516509	4 SubmittersRCV000412268 RCV002266959 RCV002266958 RCV002307491 RCV003463791
NM_000352.6(ABCC8):c.1630+1G>T	SNV Germline	Chr11:17442719	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Hereditary hyperinsulinism Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3	Criteria Provided Multiple Submitters No Conflicts	CA5903512	rs_773306994	6 SubmittersRCV000411351 RCV000816954 RCV001272240 RCV003475953 RCV002502422
NM_000352.6(ABCC8):c.1468-2A>C	SNV Unknown	Chr11:17442884	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	No Assertion Criteria Provided	CA16041453	rs_1057516946	1 SubmittersRCV000411098
NM_000352.6(ABCC8):c.692G>A (p.Trp231Ter)	SNV Unknown	Chr11:17461713	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	No Assertion Criteria Provided	CA16041456	rs_1057517139	1 SubmittersRCV000410965
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 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 Hereditary hyperinsulinism ABCC8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA5903947	rs_201682634	8 SubmittersRCV000409175 RCV001203709 RCV002230219 RCV002502430 RCV003463804 RCV001828376 RCV005250049
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys)	SNV Germline	Chr11:17453228	Conflicting classifications of pathogenicity	Monogenic diabetes Condition: not provided Hereditary hyperinsulinism Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 not specified	Criteria Provided Conflicting Classifications	CA5903679	rs_59852838	6 SubmittersRCV000445377 RCV000710369 RCV001272244 RCV001104822 RCV001104821 RCV001104823 RCV002265764
NM_000352.6(ABCC8):c.4451G>T (p.Gly1484Val)	SNV Germline	Chr11:17394360	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter	CA379783463	rs_193922405	1 SubmittersRCV000502822
NM_000352.6(ABCC8):c.4450G>A (p.Gly1484Arg)	SNV Germline/somatic	Chr11:17394361	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA379783478	rs_1554904102	2 SubmittersRCV000501743 RCV002244969 RCV002244968
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)	SNV Germline	Chr11:17394379	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Autosomal dominant hyperinsulinism due to SUR1 deficiency Condition: not provided Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA218406864	rs_72559715	9 SubmittersRCV000503504 RCV000763232 RCV001848864 RCV000710389 RCV003470623
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg)	SNV Germline	Chr11:17395207	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA218407548	rs_971604271	5 SubmittersRCV000503846 RCV001280724
NM_000352.6(ABCC8):c.4109C>T (p.Pro1370Leu)	SNV Germline/somatic	Chr11:17396926	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA379790212	rs_1554905662	2 SubmittersRCV000504191 RCV002244970 RCV002274043
NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter)	SNV Germline	Chr11:17407058	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Monogenic diabetes Hereditary hyperinsulinism Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA5902951	rs_769518471	9 SubmittersRCV000499389 RCV000517672 RCV000664138 RCV001277193 RCV003464074
NM_000352.6(ABCC8):c.2921-9G>A	SNV Germline	Chr11:17407138	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Hereditary hyperinsulinism Condition: not provided Familial hyperinsulinism Type 2 diabetes mellitus Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia	Criteria Provided Multiple Submitters No Conflicts	CA5902971	rs_757171524	9 SubmittersRCV000502550 RCV001834612 RCV001288417 RCV005431711 RCV003470624 RCV005044751
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr)	SNV Germline	Chr11:17427095	Conflicting classifications of pathogenicity	not specified Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Condition: not provided Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Hereditary hyperinsulinism Pulmonary arterial hypertension Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3	Criteria Provided Conflicting Classifications	CA5903282	rs_138687850	9 SubmittersRCV000501008 RCV000763719 RCV002056831 RCV001102697 RCV001102698 RCV001102699 RCV001278414 RCV005356014 RCV005044752
NM_000352.6(ABCC8):c.2143G>A (p.Val715Met)	SNV Germline	Chr11:17427128	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 not specified Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA379813722	rs_1554924142	3 SubmittersRCV000500528 RCV000518807 RCV002251481 RCV002251482
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter)	SNV Germline	Chr11:17430839	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Hereditary hyperinsulinism Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Familial hyperinsulinism ABCC8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA5903454	rs_139328569	11 SubmittersRCV000500331 RCV001380990 RCV001829422 RCV002496936 RCV003470626 RCV001797741 RCV004535574
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His)	SNV Germline	Chr11:17395872	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Hereditary hyperinsulinism Type 2 diabetes mellitus Maturity onset diabetes mellitus in young Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Leucine-induced hypoglycemia Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Conflicting Classifications	CA5902547	rs_769279368	10 SubmittersRCV000671471 RCV000518373 RCV001277180 RCV003470643 RCV003884589 RCV005044767
NM_000352.6(ABCC8):c.4157C>T (p.Ser1386Phe)	SNV Germline	Chr11:17395893	Pathogenic	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Multiple Submitters No Conflicts	CA218408231	rs_72559718	3 SubmittersRCV000517310 RCV004577338
NM_000352.6(ABCC8):c.3867+7G>A	SNV Germline/somatic	Chr11:17397677	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus not specified Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young ABCC8-related disorder	Criteria Provided Conflicting Classifications	CA5902678	rs_372198547	9 SubmittersRCV001107658 RCV001107659 RCV000517107 RCV000665490 RCV000876491 RCV002246125 RCV002246124 RCV004535667
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)	SNV Germline	Chr11:17476715	Pathogenic/Likely pathogenic	Familial hyperinsulinism Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Hereditary hyperinsulinism Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Type 2 diabetes mellitus ABCC8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA5903992	rs_200670692	8 SubmittersRCV000588969 RCV001386147 RCV000666072 RCV001829617 RCV002491164 RCV003459458 RCV004545790
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 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia 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 RCV000763236 RCV000984140 RCV005044870 RCV003459457
NM_000352.6(ABCC8):c.4446C>A (p.Ser1482Arg)	SNV Germline/somatic	Chr11:17394365	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Condition: not provided Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA379783518	rs_1554904107	4 SubmittersRCV000666196 RCV002245084 RCV003151131 RCV002245083
NM_000352.6(ABCC8):c.4349T>C (p.Leu1450Pro)	SNV Germline/somatic	Chr11:17395234	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young not specified 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	CA379785565	rs_1554904565	4 SubmittersRCV000670291 RCV002245560 RCV002245559 RCV004689844 RCV005046886
NM_000352.6(ABCC8):c.4008G>C (p.Lys1336Asn)	SNV Germline	Chr11:17397027	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Condition: not provided	Criteria Provided Conflicting Classifications	CA5902598	rs_67767715	4 SubmittersRCV000666053 RCV001104230 RCV001816668
NM_000352.6(ABCC8):c.3989-3C>G	SNV Germline/somatic	Chr11:17397049	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus Condition: not provided	Criteria Provided Conflicting Classifications	CA658822171	rs_1324242791	4 SubmittersRCV000668524 RCV002245551 RCV002245552 RCV004719929
NM_000352.6(ABCC8):c.3557+1G>A	SNV Germline	Chr11:17404511	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA379797270	rs_1554910610	3 SubmittersRCV000671355 RCV002531279
NM_000352.6(ABCC8):c.2222+15C>A	SNV Germline	Chr11:17427034	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Condition: not provided	Criteria Provided Conflicting Classifications	CA5903263	rs_377174421	4 SubmittersRCV000674532 RCV002477510 RCV002531354
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys)	SNV Germline	Chr11:17442849	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Familial hyperinsulinism Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3	Criteria Provided Multiple Submitters No Conflicts	CA5903548	rs_372307320	8 SubmittersRCV000674549 RCV001383752 RCV002509505 RCV003465538 RCV005046912
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile)	SNV Germline	Chr11:17461719	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 not specified Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Condition: not provided Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA5903799	rs_768017509	5 SubmittersRCV000672033 RCV003987660 RCV002507174 RCV002531303 RCV003459633
NM_000352.6(ABCC8):c.579+2T>A	SNV Germline	Chr11:17463436	Conflicting classifications of pathogenicity	Maturity onset diabetes mellitus in young Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Familial hyperinsulinism	Criteria Provided Conflicting Classifications	CA379779847	rs_1449198328	6 SubmittersRCV002254171 RCV003472134 RCV000671080 RCV005614435 RCV002254172 RCV003994076
NM_000352.6(ABCC8):c.119T>G (p.Leu40Arg)	SNV Germline	Chr11:17476658	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Condition: not provided Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA379789899	rs_1554949242	3 SubmittersRCV000673351 RCV002253560 RCV001816681 RCV002253559
NM_000352.6(ABCC8):c.4608G>A (p.Ala1536=)	SNV Germline	Chr11:17393697	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA473298008	rs_1439464815	4 SubmittersRCV000671370 RCV001766448 RCV003459624
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His)	SNV Germline	Chr11:17395664	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided 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	Criteria Provided Multiple Submitters No Conflicts	CA379786705	rs_1446306735	5 SubmittersRCV000667823 RCV001202457 RCV002485539 RCV003459588
NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg)	SNV Germline	Chr11:17395918	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA379788454	rs_925231098	5 SubmittersRCV000669782 RCV000710385 RCV003465494
NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser)	SNV Germline	Chr11:17397788	Pathogenic/Likely pathogenic	Type 2 diabetes mellitus Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Hereditary hyperinsulinism	Criteria Provided Multiple Submitters No Conflicts	CA379793654	rs_1185034563	5 SubmittersRCV003459587 RCV001756130 RCV000667689 RCV005614431
NM_000352.6(ABCC8):c.3753+1G>A	SNV Germline/somatic	Chr11:17398338	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Diabetes mellitus, transient neonatal, 2 Hypoglycemia	Criteria Provided Conflicting Classifications	CA379793881	rs_1554906786	3 SubmittersRCV000667451 RCV002246131 RCV002246130 RCV003446300 RCV002284423
NM_000352.6(ABCC8):c.3736T>C (p.Trp1246Arg)	SNV Germline/somatic	Chr11:17398356	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Maturity onset diabetes mellitus in young Condition: not provided Transitory neonatal diabetes mellitus Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA379794040	rs_1554906790	4 SubmittersRCV000672200 RCV002245567 RCV001377217 RCV002245568 RCV003465512
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)	SNV Germline/somatic	Chr11:17412700	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Condition: not provided 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 Familial hyperinsulinism	Criteria Provided Conflicting Classifications	CA5903102	rs_547150342	8 SubmittersRCV000669690 RCV003472116 RCV001861780 RCV004556812 RCV002245557 RCV005049645 RCV005431861
NM_000352.6(ABCC8):c.2222+1G>T	SNV Germline	Chr11:17427048	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Familial hyperinsulinism	Criteria Provided Multiple Submitters No Conflicts	CA379813382	rs_1554923999	3 SubmittersRCV000668105 RCV000710376 RCV000780810
NM_000352.6(ABCC8):c.1536C>G (p.Tyr512Ter)	SNV Unknown	Chr11:17442814	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	No Assertion Criteria Provided	CA379766519	rs_765090096	1 SubmittersRCV000672131
NM_000352.6(ABCC8):c.917G>A (p.Arg306His)	SNV Germline	Chr11:17460582	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided	Criteria Provided Single Submitter	CA379776919	rs_1409900082	2 SubmittersRCV000669163 RCV002531219
NM_000352.6(ABCC8):c.3868-1G>A	SNV Germline	Chr11:17397314	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Maturity onset diabetes mellitus in young Neonatal diabetes mellitus Familial hyperinsulinism Type 2 diabetes mellitus Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal, 2	Criteria Provided Multiple Submitters No Conflicts	CA5902656	rs_766431403	7 SubmittersRCV000667948 RCV001220536 RCV002246134 RCV004556811 RCV005418286 RCV003459592 RCV005049641
NM_000352.6(ABCC8):c.3557+1G>T	SNV Germline/somatic	Chr11:17404511	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided	Criteria Provided Conflicting Classifications	CA379797269	rs_1554910610	3 SubmittersRCV000666549 RCV002245547 RCV002245546 RCV003565437
NM_000352.6(ABCC8):c.250G>A (p.Val84Ile)	SNV Germline	Chr11:17474926	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided not specified Monogenic diabetes ABCC8-related disorder	Criteria Provided Conflicting Classifications	CA5903942	rs_775776658	6 SubmittersRCV000670385 RCV002531249 RCV003317330 RCV004026113 RCV004735737
NM_000352.6(ABCC8):c.2041-12C>A	SNV Germline	Chr11:17427954	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus not specified 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	CA597666161	rs_201419039	6 SubmittersRCV000670824 RCV002060821 RCV002267008 RCV002267009 RCV005240434 RCV005049648
NM_000352.6(ABCC8):c.2041-21G>A	SNV Germline	Chr11:17427963	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Type 2 diabetes mellitus Inborn genetic diseases Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia	Criteria Provided Multiple Submitters No Conflicts	CA5903322	rs_746714109	9 SubmittersRCV000669471 RCV001059343 RCV003465492 RCV003278982 RCV005046882 RCV005357891
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys)	SNV Germline	Chr11:17442774	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Familial hyperinsulinism Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA5903524	rs_751279984	6 SubmittersRCV000669267 RCV001383751 RCV002477497 RCV003230568 RCV003459609
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln)	SNV Germline	Chr11:17442866	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 not specified Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Condition: not provided Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA379766680	rs_1420601296	6 SubmittersRCV000670691 RCV003155273 RCV005049647 RCV003140067 RCV003472129
NM_000352.6(ABCC8):c.536A>G (p.Tyr179Cys)	SNV Germline	Chr11:17463481	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA218452824	rs_919281813	3 SubmittersRCV000667913 RCV002530729 RCV005056406
NM_000352.6(ABCC8):c.290+2T>C	SNV Unknown	Chr11:17474884	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA379786978	rs_1554948310	3 SubmittersRCV000667474 RCV000763235 RCV002254308 RCV002254307
NM_000352.6(ABCC8):c.208G>C (p.Gly70Arg)	SNV Germline	Chr11:17474968	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Neonatal diabetes mellitus Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA379787961	rs_764349043	3 SubmittersRCV000666377 RCV002051877 RCV003465451
NM_000352.6(ABCC8):c.149-1G>A	SNV Unknown	Chr11:17475028	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Maturity onset diabetes mellitus in young Type 2 diabetes mellitus Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA379788741	rs_1554948445	3 SubmittersRCV000666533 RCV002254304 RCV004568501 RCV002273822
NM_000352.6(ABCC8):c.148+2T>G	SNV Germline	Chr11:17476627	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA379789720	rs_1554949176	3 SubmittersRCV000666829 RCV001855468
NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter)	SNV Germline	Chr11:17393125	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA379781523	rs_1411638309	4 SubmittersRCV000672393 RCV001379884 RCV005046897
NM_000352.6(ABCC8):c.4412-13G>A	SNV Germline	Chr11:17394412	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Hereditary hyperinsulinism Familial hyperinsulinism Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA5902472	rs_1008906426	10 SubmittersRCV000667182 RCV001387141 RCV001835906 RCV002233099 RCV002249395
NM_000352.6(ABCC8):c.3754-1G>A	SNV Germline/somatic	Chr11:17397798	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA379793715	rs_1554906449	4 SubmittersRCV000667898 RCV002246133 RCV002246132 RCV002530728 RCV004568512
NM_000352.6(ABCC8):c.3399+1G>A	SNV Somatic	Chr11:17405493	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA379799996	rs_1554911369	3 SubmittersRCV000669304 RCV002245556 RCV002245555 RCV003472114
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr)	SNV Germline	Chr11:17410544	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Monogenic diabetes Permanent neonatal diabetes mellitus not specified Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA5903060	rs_761862121	9 SubmittersRCV000675026 RCV001102596 RCV001174391 RCV001107830 RCV001805796 RCV003465540 RCV005046914 RCV005623356
NM_000352.6(ABCC8):c.2222+1G>A	SNV Germline	Chr11:17427048	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Condition: not provided Type 2 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	Criteria Provided Conflicting Classifications	CA379813385	rs_1554923999	5 SubmittersRCV000670459 RCV002251508 RCV001036502 RCV003459616 RCV002251507 RCV005046888
NM_000352.6(ABCC8):c.2180T>G (p.Leu727Arg)	SNV Germline	Chr11:17427091	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Condition: not provided Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA379813577	rs_1554924079	3 SubmittersRCV000669371 RCV002251506 RCV002531225 RCV002251505
NM_000352.6(ABCC8):c.2116+1G>T	SNV Germline	Chr11:17427866	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA379814664	rs_1554924540	4 SubmittersRCV000672727 RCV001816679 RCV003465516
NM_000352.6(ABCC8):c.1508T>C (p.Leu503Pro)	SNV Germline	Chr11:17442842	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Maturity onset diabetes mellitus in young not specified Transitory neonatal diabetes mellitus 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 Conflicting Classifications	CA379766570	rs_1554933168	5 SubmittersRCV000665950 RCV002267001 RCV004702280 RCV002267002 RCV005049635 RCV003459574
NM_000352.6(ABCC8):c.1177-1G>A	SNV Germline	Chr11:17448672	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Maturity onset diabetes mellitus in young Condition: not provided Transitory neonatal diabetes mellitus 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	CA379768836	rs_1167993548	4 SubmittersRCV000672967 RCV002254310 RCV003660827 RCV002254311 RCV005049650
NM_000352.6(ABCC8):c.145A>T (p.Ile49Phe)	SNV Germline	Chr11:17476632	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Neonatal diabetes mellitus	Criteria Provided Single Submitter	CA379789749	rs_1554949196	2 SubmittersRCV000671753 RCV002051878
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)	SNV Germline	Chr11:17406748	Conflicting classifications of pathogenicity	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 not specified Pulmonary arterial hypertension	Criteria Provided Conflicting Classifications	CA5902886	rs_139524121	8 SubmittersRCV000710379 RCV000988490 RCV001104124 RCV001104429 RCV003226376 RCV005357959
NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter)	SNV Germline	Chr11:17406943	Pathogenic	Condition: not provided Maturity onset diabetes mellitus in young Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Neonatal diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA5902922	rs_755259997	6 SubmittersRCV000710378 RCV002251514 RCV001174850 RCV003465648 RCV004556817
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn)	SNV Germline	Chr11:17460571	Likely pathogenic	Condition: not provided Hereditary hyperinsulinism Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Familial hyperinsulinism ABCC8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA5903724	rs_769569410	11 SubmittersRCV000710397 RCV001825411 RCV003321726 RCV002255099 RCV002499280 RCV004782524 RCV004735763
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter)	SNV Germline	Chr11:17461663	Pathogenic	Condition: not provided Hereditary hyperinsulinism 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 Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA218452045	rs_72559730	7 SubmittersRCV000710396 RCV001825410 RCV001192814 RCV002493256 RCV003465649
NM_000352.6(ABCC8):c.1243G>A (p.Gly415Arg)	SNV Germline	Chr11:17448605	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA379768689	rs_1564955779	2 SubmittersRCV000761254 RCV002254315 RCV002254314
NM_000352.6(ABCC8):c.343A>G (p.Met115Val)	SNV Germline	Chr11:17470170	Conflicting classifications of pathogenicity	Permanent neonatal diabetes mellitus Condition: not provided not specified Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, permanent neonatal 3	Criteria Provided Conflicting Classifications	CA5903905	rs_146695489	4 SubmittersRCV001105013 RCV001869139 RCV002265884 RCV003448345
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 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	CA5902755	rs_367850779	8 SubmittersRCV000779674 RCV001290313 RCV001388601 RCV001277187 RCV002501017 RCV003467307
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)	SNV Germline	Chr11:17410517	Pathogenic/Likely pathogenic	Familial hyperinsulinism Condition: not provided Hereditary hyperinsulinism Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia ABCC8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA379805891	rs_1382448285	8 SubmittersRCV000780809 RCV001280725 RCV001830672 RCV003321734 RCV003467313 RCV005047042 RCV004545800
NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter)	SNV Germline	Chr11:17461710	Pathogenic	Familial hyperinsulinism Hyperinsulinemic hypoglycemia, familial, 1 Maturity onset diabetes mellitus in young Condition: not provided Type 2 diabetes mellitus Neonatal diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA379778669	rs_1564977373	6 SubmittersRCV000780807 RCV000988492 RCV002253608 RCV001816835 RCV003467312 RCV004556820
NM_000352.6(ABCC8):c.1176+2T>C	SNV Germline	Chr11:17453117	Pathogenic/Likely pathogenic	Familial hyperinsulinism Hereditary hyperinsulinism Condition: not provided Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 See cases Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia	Criteria Provided Multiple Submitters No Conflicts	CA5903665	rs_750586210	8 SubmittersRCV000780806 RCV001272243 RCV001037178 RCV003461054 RCV003321733 RCV004584412 RCV005047041
NM_000352.6(ABCC8):c.496C>T (p.Gln166Ter)	SNV Germline	Chr11:17463521	Pathogenic/Likely pathogenic	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal, 2	Criteria Provided Multiple Submitters No Conflicts	CA379780030	rs_1591896370	2 SubmittersRCV000807622 RCV005049702
NM_000352.6(ABCC8):c.2921-1G>A	SNV Germline	Chr11:17407130	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Hyperinsulinemic hypoglycemia, familial, 1 Neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA5902969	rs_772682942	3 SubmittersRCV000797020 RCV002251516 RCV003321738 RCV004556823
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=)	SNV Germline	Chr11:17407092	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Condition: not provided Permanent neonatal diabetes mellitus Hereditary hyperinsulinism Hyperinsulinemic hypoglycemia, familial, 1 not specified Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5902962	rs_58820146	8 SubmittersRCV001107176 RCV000871676 RCV001107177 RCV001277194 RCV001107178 RCV001817009 RCV002251524 RCV002251525 RCV003169172
NM_000352.6(ABCC8):c.4077G>A (p.Pro1359=)	SNV Germline/somatic	Chr11:17396958	Conflicting classifications of pathogenicity	Condition: not provided Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA5902589	rs_547430068	3 SubmittersRCV000941649 RCV001103945 RCV001104229 RCV001104228 RCV002245767 RCV002245766
NM_000352.6(ABCC8):c.4412-4T>G	SNV Germline/somatic	Chr11:17394403	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Conflicting Classifications	CA597664782	rs_1476016104	3 SubmittersRCV000941637 RCV002245764 RCV002245765 RCV003227877
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=)	SNV Germline	Chr11:17396919	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Condition: not provided not specified Hereditary hyperinsulinism Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young ABCC8-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5902581	rs_562715858	7 SubmittersRCV001103944 RCV001107565 RCV000976702 RCV001819151 RCV001832236 RCV001107566 RCV002274110 RCV002274109 RCV004543645 RCV004958342
NM_000352.6(ABCC8):c.3243G>A (p.Thr1081=)	SNV Germline/somatic	Chr11:17406708	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Condition: not provided Diabetes mellitus, transient neonatal, 2 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young not specified	Criteria Provided Conflicting Classifications	CA473515827	rs_771538281	4 SubmittersRCV001104121 RCV001104122 RCV000975926 RCV001104123 RCV002250706 RCV002250705 RCV005408112
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val)	SNV Germline	Chr11:17402733	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 not specified Leucine-induced hypoglycemia Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA5902762	rs_139486832	7 SubmittersRCV000988489 RCV001819694 RCV002488079 RCV002549713
NM_000352.6(ABCC8):c.602C>T (p.Pro201Leu)	SNV Germline	Chr11:17461803	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA379779280	rs_933815442	2 SubmittersRCV000988493 RCV002549714
NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His)	SNV Germline/somatic	Chr11:17393004	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia	Criteria Provided Conflicting Classifications	CA5902374	rs_143557848	7 SubmittersRCV000991473 RCV001819698 RCV001832302 RCV002245824 RCV002245823 RCV005047167
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr)	SNV Germline	Chr11:17397767	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Conflicting Classifications	CA379793539	rs_1266053680	4 SubmittersRCV000991472 RCV003329118 RCV004577347
NM_000352.6(ABCC8):c.4438A>G (p.Asn1480Asp)	SNV Germline/somatic	Chr11:17394373	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA379783602	rs_1591705863	2 SubmittersRCV000995473 RCV002245828 RCV002245827
NM_000352.6(ABCC8):c.4325A>T (p.Glu1442Val)	SNV Germline/somatic	Chr11:17395258	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus Condition: not provided	Criteria Provided Conflicting Classifications	CA5902491	rs_562680077	3 SubmittersRCV001030758 RCV002245834 RCV002245835 RCV003736960
NM_000352.6(ABCC8):c.2236G>T (p.Glu746Ter)	SNV Germline	Chr11:17416949	Pathogenic/Likely pathogenic	Condition: not provided Type 2 diabetes mellitus Type 2 diabetes mellitus Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, permanent neonatal 3	Criteria Provided Multiple Submitters No Conflicts	CA379811263	rs_753296261	3 SubmittersRCV001051901 RCV003467766 RCV005049747
NM_000352.6(ABCC8):c.382G>A (p.Glu128Lys)	SNV Germline	Chr11:17470131	Pathogenic/Likely pathogenic	Condition: not provided Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal, 2 Leucine-induced hypoglycemia Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Hereditary hyperinsulinism Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Multiple Submitters No Conflicts	CA5903897	rs_781617345	6 SubmittersRCV001058712 RCV002497433 RCV001832528 RCV003462576 RCV003321793
NM_000352.6(ABCC8):c.4410C>T (p.Leu1470=)	SNV Germline/somatic	Chr11:17395173	Conflicting classifications of pathogenicity	Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5902484	rs_369810811	4 SubmittersRCV001105777 RCV001105778 RCV001105779 RCV002245856 RCV002245855 RCV003405315 RCV005432581
NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=)	SNV Germline/somatic	Chr11:17404607	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Condition: not provided Hereditary hyperinsulinism Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5902801	rs_540122589	5 SubmittersRCV001107095 RCV001107094 RCV001107096 RCV001435820 RCV001278394 RCV002245859 RCV002245860 RCV004960457
NM_000352.6(ABCC8):c.3076C>T (p.Leu1026=)	SNV Germline	Chr11:17406974	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Condition: not provided	Criteria Provided Conflicting Classifications	CA473515872	rs_1354438772	2 SubmittersRCV001104430 RCV001104431 RCV001104432 RCV001487786
NM_000352.6(ABCC8):c.1643C>T (p.Thr548Met)	SNV Germline	Chr11:17432232	Conflicting classifications of pathogenicity	Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5903500	rs_763794263	2 SubmittersRCV001104713 RCV001104715 RCV001104714 RCV002555031
NM_000352.6(ABCC8):c.1269C>A (p.Ile423=)	SNV Germline	Chr11:17448579	Conflicting classifications of pathogenicity	Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Hereditary hyperinsulinism Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3	Criteria Provided Conflicting Classifications	CA5903634	rs_370169777	3 SubmittersRCV001102900 RCV001102902 RCV001102901 RCV001279196 RCV005049769
NM_000352.6(ABCC8):c.933G>C (p.Leu311=)	SNV Germline	Chr11:17460566	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided	Criteria Provided Conflicting Classifications	CA5903722	rs_776498313	3 SubmittersRCV001105966 RCV001105965 RCV001105967 RCV002259549 RCV002287473 RCV003698828
NM_000352.6(ABCC8):c.723C>T (p.His241=)	SNV Germline	Chr11:17461682	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5903793	rs_147276708	4 SubmittersRCV001103003 RCV001103004 RCV001103002 RCV002253771 RCV002253772 RCV004659350 RCV002069716
NM_000352.6(ABCC8):c.621C>T (p.Pro207=)	SNV Germline	Chr11:17461784	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA5903811	rs_765043940	2 SubmittersRCV001103005 RCV001103006 RCV001103007 RCV001492855
NM_000352.6(ABCC8):c.507C>T (p.Phe169=)	SNV Germline	Chr11:17463510	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA5903854	rs_755745806	3 SubmittersRCV001106071 RCV001108306 RCV001108307 RCV001419039 RCV002254199 RCV002254198
NM_000352.6(ABCC8):c.4545+9T>C	SNV Germline	Chr11:17394257	Conflicting classifications of pathogenicity	Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA5902449	rs_775018351	3 SubmittersRCV001103832 RCV001103833 RCV001103834 RCV001856404
NM_000352.6(ABCC8):c.3650+4C>G	SNV Germline	Chr11:17402657	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hereditary hyperinsulinism Condition: not provided ABCC8-related disorder not specified	Criteria Provided Conflicting Classifications	CA5902752	rs_374315114	5 SubmittersRCV001104036 RCV001104038 RCV001104037 RCV001277872 RCV002276625 RCV004538324 RCV005236603
NM_000352.6(ABCC8):c.1924-9C>T	SNV Germline	Chr11:17428414	Conflicting classifications of pathogenicity	Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA597904337	rs_1218098329	3 SubmittersRCV001108017 RCV001108015 RCV001108016 RCV002069765 RCV002267077 RCV002267076
NM_000352.6(ABCC8):c.1630+8C>T	SNV Germline	Chr11:17442712	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 not specified Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA5903511	rs_200053398	5 SubmittersRCV001104716 RCV001819811 RCV001104717 RCV001104718 RCV001417995 RCV002267075 RCV002267074
NM_000352.6(ABCC8):c.580-7C>A	SNV Germline	Chr11:17461832	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Transitory neonatal diabetes mellitus Permanent neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided	Criteria Provided Conflicting Classifications	CA5903823	rs_771196330	3 SubmittersRCV001104911 RCV001104912 RCV002254197 RCV001106070 RCV002254196 RCV002555034
NM_000352.6(ABCC8):c.2117-2A>T	SNV Germline	Chr11:17427156	Pathogenic	Condition: not provided Familial hyperinsulinism Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 ABCC8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA379813843	rs_1476853180	6 SubmittersRCV001236937 RCV001290585 RCV004570600 RCV003321815 RCV004528430
NM_000352.6(ABCC8):c.2557G>A (p.Asp853Asn)	SNV Germline	Chr11:17410653	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA379806753	rs_1954765607	2 SubmittersRCV001255854 RCV002251762 RCV002251564
NM_000352.6(ABCC8):c.2062T>G (p.Trp688Gly)	SNV Unknown	Chr11:17427921	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA379814895	rs_1955658642	2 SubmittersRCV001262625 RCV002251567 RCV002251568
NM_000352.6(ABCC8):c.4104C>T (p.Ile1368=)	SNV Germline/somatic	Chr11:17396931	Conflicting classifications of pathogenicity	Hereditary hyperinsulinism Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus Condition: not provided Leucine-induced hypoglycemia Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3	Criteria Provided Conflicting Classifications	CA473298438	rs_1345535328	4 SubmittersRCV001277866 RCV002245925 RCV002245926 RCV001411378 RCV005050317
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 Leucine-induced hypoglycemia Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA5902623	rs_576340695	4 SubmittersRCV001277867 RCV002246152 RCV002246151 RCV002499466 RCV003738031
NM_000352.6(ABCC8):c.2209G>A (p.Val737Ile)	SNV Germline	Chr11:17427062	Conflicting classifications of pathogenicity	Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided Leucine-induced hypoglycemia Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3	Criteria Provided Conflicting Classifications	CA5903270	rs_376206979	4 SubmittersRCV001278413 RCV002251584 RCV002251583 RCV001466630 RCV005040119
NM_000352.6(ABCC8):c.255G>A (p.Leu85=)	SNV Germline	Chr11:17474921	Conflicting classifications of pathogenicity	Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Leucine-induced hypoglycemia Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Maturity onset diabetes mellitus in young Condition: not provided	Criteria Provided Conflicting Classifications	CA473301935	rs_1323334420	4 SubmittersRCV001279208 RCV002254347 RCV002486054 RCV002254346 RCV002542919
NM_000352.6(ABCC8):c.2521C>T (p.Arg841Ter)	SNV Germline	Chr11:17412701	Pathogenic	Familial hyperinsulinism Neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA379807480	rs_1484689392	5 SubmittersRCV001290673 RCV004556837 RCV003321823 RCV001859230 RCV003469507
NM_000352.6(ABCC8):c.11C>T (p.Ala4Val)	SNV Germline	Chr11:17476766	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 not specified	Criteria Provided Conflicting Classifications	CA379790450	rs_2133738359	2 SubmittersRCV001353383 RCV004526116
NM_000352.6(ABCC8):c.4369G>A (p.Ala1457Thr)	SNV Germline	Chr11:17395214	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA218407557	rs_72559717	3 SubmittersRCV001376163 RCV001820080
NM_000352.6(ABCC8):c.3000C>A (p.Cys1000Ter)	SNV Germline	Chr11:17407050	Pathogenic/Likely pathogenic	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Familial hyperinsulinism	Criteria Provided Multiple Submitters No Conflicts	CA5902947	rs_192863214	3 SubmittersRCV001388604 RCV003321835 RCV004801004
NM_000352.6(ABCC8):c.2113C>T (p.Arg705Ter)	SNV Germline	Chr11:17427870	Pathogenic	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Multiple Submitters No Conflicts	CA5903313	rs_751848086	3 SubmittersRCV001386536 RCV003321834
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 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus See cases	Criteria Provided Multiple Submitters No Conflicts	CA379768482	rs_760062120	5 SubmittersRCV001383753 RCV001826165 RCV002499797 RCV003469700 RCV004797943
NM_000352.6(ABCC8):c.2751G>A (p.Gln917=)	SNV Germline	Chr11:17408461	Conflicting classifications of pathogenicity	Condition: not provided Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia	Criteria Provided Conflicting Classifications	CA5903032	rs_769982482	2 SubmittersRCV001403954 RCV005040276
NM_000352.6(ABCC8):c.2403C>A (p.Val801=)	SNV Germline	Chr11:17413466	Conflicting classifications of pathogenicity	Condition: not provided Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3	Criteria Provided Conflicting Classifications	CA5903146	rs_148863748	2 SubmittersRCV001411991 RCV005050377
NM_000352.6(ABCC8):c.2888A>G (p.Asp963Gly)	SNV Germline	Chr11:17407386	Conflicting classifications of pathogenicity	Condition: not provided Leucine-induced hypoglycemia Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal, 2 Leucine-induced hypoglycemia	Criteria Provided Conflicting Classifications	CA5902988	rs_538013271	3 SubmittersRCV001445815 RCV004698547 RCV005040286
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	CA13410946	rs_4148644	4 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 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	CA218429229	rs_4148632	3 SubmittersRCV001533282 RCV001533220 RCV001533221 RCV001533222 RCV001615250 RCV002285176 RCV002285177
NM_000352.6(ABCC8):c.2390+123C>T	SNV Germline	Chr11:17414389	Conflicting classifications of pathogenicity	Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA13568491	rs_4148631	4 SubmittersRCV001533223 RCV001533225 RCV001533226 RCV001533224 RCV001615251 RCV002285178 RCV002285179
NM_000352.6(ABCC8):c.2390+93C>T	SNV Germline	Chr11:17414419	Conflicting classifications of pathogenicity	Diabetes mellitus, permanent neonatal 3 Leucine-induced hypoglycemia 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	CA13438220	rs_4148630	4 SubmittersRCV001533230 RCV001533227 RCV001533228 RCV001533229 RCV001655817 RCV002286529 RCV002286530
NM_000352.6(ABCC8):c.2256-50T>C	SNV Germline	Chr11:17415389	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, permanent neonatal 3 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA5903240	rs_4148626	4 SubmittersRCV001533232 RCV001533234 RCV001533231 RCV001533233 RCV001707891 RCV002286531 RCV002286532
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 Condition: not provided not specified Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Leucine-induced hypoglycemia Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA5902800	rs_759961510	4 SubmittersRCV001580619 RCV001580618 RCV002569104 RCV002266006 RCV002495927
NM_000352.6(ABCC8):c.1189A>C (p.Asn397His)	SNV Germline	Chr11:17448659	Conflicting classifications of pathogenicity	not specified Diabetes mellitus, transient neonatal, 2 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5903646	rs_199763382	4 SubmittersRCV001822202 RCV002503312 RCV002274217
NM_000352.6(ABCC8):c.4147G>A (p.Gly1383Arg)	SNV Germline	Chr11:17395903	Likely pathogenic	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Multiple Submitters No Conflicts	CA5902549	rs_748233295	2 SubmittersRCV001822847 RCV003321873
NM_000352.6(ABCC8):c.1183A>T (p.Ile395Phe)	SNV Germline	Chr11:17448665	Conflicting classifications of pathogenicity	not specified Condition: not provided Diabetes mellitus, transient neonatal, 2 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA5903647	rs_542947894	4 SubmittersRCV001817637 RCV002545178 RCV005050414 RCV005432801
NM_000352.6(ABCC8):c.3290A>C (p.His1097Pro)	SNV Germline	Chr11:17406661	Conflicting classifications of pathogenicity	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA379801444	rs_1352191146	5 SubmittersRCV001817802 RCV003321874 RCV004526149 RCV005520569
NM_000352.6(ABCC8):c.313C>T (p.His105Tyr)	SNV Germline	Chr11:17470200	Conflicting classifications of pathogenicity	Condition: not provided Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Pulmonary arterial hypertension	Criteria Provided Conflicting Classifications	CA5903909	rs_766068851	6 SubmittersRCV001817803 RCV005040401 RCV005361746
NM_000352.6(ABCC8):c.2473C>T (p.Arg825Trp)	SNV Germline	Chr11:17413396	Pathogenic	Condition: not provided Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Permanent neonatal diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA5903132	rs_779736828	5 SubmittersRCV001817843 RCV005040402 RCV004690140
NM_000352.6(ABCC8):c.76T>A (p.Cys26Ser)	SNV Germline	Chr11:17476701	Pathogenic/Likely pathogenic	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 Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Multiple Submitters No Conflicts	CA379790058	rs_1462559571	4 SubmittersRCV001817862 RCV001844417 RCV005040403 RCV003321875
NM_000352.6(ABCC8):c.50T>C (p.Val17Ala)	SNV Germline	Chr11:17476727	Conflicting classifications of pathogenicity	Condition: not provided Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Conflicting Classifications	CA5903995	rs_764950519	3 SubmittersRCV001817905 RCV003464152 RCV003321876
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)	SNV Germline	Chr11:17470175	Conflicting classifications of pathogenicity	Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Pulmonary arterial hypertension Condition: not provided	Criteria Provided Conflicting Classifications	CA379784330	rs_2133711315	5 SubmittersRCV003464153 RCV002503329 RCV005361747 RCV001817966
NM_000352.6(ABCC8):c.4153T>C (p.Ser1385Pro)	SNV Germline	Chr11:17395897	Likely pathogenic	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Multiple Submitters No Conflicts	CA379788192	rs_2133402479	2 SubmittersRCV001817985 RCV003388053
NM_000352.6(ABCC8):c.2929G>A (p.Ala977Thr)	SNV Germline	Chr11:17407121	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA5902968	rs_568576108	4 SubmittersRCV001823662 RCV002503332 RCV002542743
NM_000352.6(ABCC8):c.4544C>T (p.Thr1515Met)	SNV Germline	Chr11:17394267	Pathogenic/Likely pathogenic	Condition: not provided Maturity onset diabetes mellitus in young Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Leucine-induced hypoglycemia Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, permanent neonatal 3	Criteria Provided Multiple Submitters No Conflicts	CA5902453	rs_769989185	5 SubmittersRCV002004428 RCV004699641 RCV002290835 RCV005042680
NM_000352.6(ABCC8):c.3988+2T>C	SNV Germline	Chr11:17397191	Pathogenic/Likely pathogenic	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 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	CA5902627	rs_745349258	4 SubmittersRCV001953915 RCV003321888 RCV003471186 RCV005042602
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter)	SNV Germline	Chr11:17476732	Pathogenic/Likely pathogenic	ABCC8-related disorder Condition: not provided Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Multiple Submitters No Conflicts	CA379790178	rs_758231286	4 SubmittersRCV004538586 RCV001910791 RCV003475146 RCV002490136
NM_000352.6(ABCC8):c.2291+1G>A	SNV Germline	Chr11:17415303	Likely pathogenic	Condition: not provided Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia	Criteria Provided Multiple Submitters No Conflicts	CA379810693	rs_1160946320	2 SubmittersRCV001977147 RCV005050494
NM_000352.6(ABCC8):c.3551C>T (p.Ala1184Val)	SNV Germline	Chr11:17404518	Conflicting classifications of pathogenicity	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Conflicting Classifications	CA379797331	rs_137852675	4 SubmittersRCV002010847 RCV005412356
NM_000352.6(ABCC8):c.1577G>T (p.Arg526Leu)	SNV Germline	Chr11:17442773	Conflicting classifications of pathogenicity	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Conflicting Classifications	CA5903523	rs_144481621	2 SubmittersRCV002034893 RCV003321879
NM_000352.6(ABCC8):c.502C>T (p.Arg168Cys)	SNV Germline	Chr11:17463515	Pathogenic/Likely pathogenic	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Familial hyperinsulinism 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	CA5903857	rs_756823374	4 SubmittersRCV001951354 RCV003321889 RCV003479377 RCV005042606
NM_000352.6(ABCC8):c.2521C>G (p.Arg841Gly)	SNV Germline	Chr11:17412701	Conflicting classifications of pathogenicity	Condition: not provided not specified Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3	Criteria Provided Conflicting Classifications	CA379807481	rs_1484689392	3 SubmittersRCV001978196 RCV003317567 RCV005042650
NM_000352.6(ABCC8):c.1330C>T (p.Gln444Ter)	SNV Germline	Chr11:17448518	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Familial hyperinsulinism Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA379768487	rs_2133616750	3 SubmittersRCV002052037 RCV003388087 RCV003560873
NM_000352.6(ABCC8):c.2171T>C (p.Leu724Pro)	SNV Germline	Chr11:17427100	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Conflicting Classifications	CA379813612	rs_1402090677	2 SubmittersRCV002052038
NM_000352.6(ABCC8):c.2694G>A (p.Trp898Ter)	SNV Germline	Chr11:17410516	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter	CA379805881	rs_2133460799	1 SubmittersRCV002052039
NM_000352.6(ABCC8):c.2270C>G (p.Thr757Arg)	SNV Germline	Chr11:17415325	Conflicting classifications of pathogenicity	Condition: not provided Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 ABCC8-related disorder	Criteria Provided Conflicting Classifications	CA5903228	rs_757961130	5 SubmittersRCV002071454 RCV005042710 RCV004543692
NM_000352.6(ABCC8):c.291-5C>T	SNV Germline	Chr11:17470227	Conflicting classifications of pathogenicity	Condition: not provided Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3	Criteria Provided Conflicting Classifications	CA2573146165	rs_2133711631	2 SubmittersRCV002172817 RCV005042711
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 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 not specified ABCC8-related disorder	Criteria Provided Conflicting Classifications	CA5903949	rs_764349043	6 SubmittersRCV002224395 RCV002487022 RCV004770424 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 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA5902587	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 Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Familial hyperinsulinism Pulmonary arterial hypertension	Criteria Provided Conflicting Classifications	CA379776569	rs_1201126343	5 SubmittersRCV002251095 RCV002496184 RCV003403755 RCV005356069
NM_000352.6(ABCC8):c.693G>A (p.Trp231Ter)	SNV Germline	Chr11:17461712	Pathogenic/Likely pathogenic	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Multiple Submitters No Conflicts	CA379778678	rs_1957198348	2 SubmittersRCV003560894 RCV004577370
NM_000352.6(ABCC8):c.3753+1G>T	SNV Germline	Chr11:17398338	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter	CA379793875	rs_1554906786	1 SubmittersRCV004577372
NM_000352.6(ABCC8):c.2800C>T (p.Gln934Ter)	SNV Germline	Chr11:17408412	Pathogenic	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA379804896	rs_1265410646	3 SubmittersRCV003560929 RCV004577373 RCV003471312
NM_000352.6(ABCC8):c.4168G>C (p.Ala1390Pro)	SNV Germline	Chr11:17395882	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter	CA379788035	rs_2496452651	1 SubmittersRCV002306230
NM_000352.6(ABCC8):c.1040C>G (p.Ser347Ter)	SNV Unknown	Chr11:17453255	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter	CA379771354	rs_2496811011	1 SubmittersRCV004577378
NM_000352.6(ABCC8):c.3733A>T (p.Arg1245Ter)	SNV Unknown	Chr11:17398359	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter	CA379794069	rs_2496475095	1 SubmittersRCV002307878
NM_000352.6(ABCC8):c.2318C>A (p.Ser773Ter)	SNV Unknown	Chr11:17414584	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter	CA379809600	rs_1355146733	1 SubmittersRCV002308211
NM_000352.6(ABCC8):c.3919C>T (p.Gln1307Ter)	SNV Unknown	Chr11:17397262	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter	CA379792181	rs_2496465239	1 SubmittersRCV002308346
NM_000352.6(ABCC8):c.1945A>T (p.Lys649Ter)	SNV Unknown	Chr11:17428384	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter	CA379815387	rs_2496668620	1 SubmittersRCV002310351
NM_000352.6(ABCC8):c.1073T>A (p.Leu358Ter)	SNV Unknown	Chr11:17453222	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter	CA379771097	rs_2496810710	1 SubmittersRCV004577384
NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys)	SNV Germline	Chr11:17460583	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3	Criteria Provided Conflicting Classifications	CA5903728	rs_751228166	5 SubmittersRCV002465967 RCV002571393 RCV003464565 RCV005042847
NM_000352.6(ABCC8):c.4532T>C (p.Ile1511Thr)	SNV Germline	Chr11:17394279	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided	Criteria Provided Single Submitter	CA379782757	rs_2133394768	2 SubmittersRCV003227081 RCV003062338
NM_000352.6(ABCC8):c.2694+1G>A	SNV Germline	Chr11:17410515	Pathogenic/Likely pathogenic	Condition: not provided Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA5903056	rs_774574576	3 SubmittersRCV003062341 RCV005045196 RCV003459723
NM_000352.6(ABCC8):c.2434G>A (p.Asp812Asn)	SNV Germline	Chr11:17413435	Conflicting classifications of pathogenicity	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	CA5903139	rs_146916682	2 SubmittersRCV003062343 RCV005045197
NM_000352.6(ABCC8):c.1817+2T>C	SNV Germline	Chr11:17430812	Pathogenic/Likely pathogenic	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Multiple Submitters No Conflicts	CA5903450	rs_772723050	2 SubmittersRCV003062344 RCV003321968
NM_000352.6(ABCC8):c.19G>C (p.Gly7Arg)	SNV Germline	Chr11:17476758	Likely pathogenic	Condition: not provided Familial hyperinsulinism ABCC8-related disorder Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Multiple Submitters No Conflicts	CA218464119	rs_781059815	4 SubmittersRCV003058290 RCV003317639 RCV004529198 RCV003321969
NM_000352.6(ABCC8):c.1A>G (p.Met1Val)	SNV Germline	Chr11:17476776	Pathogenic/Likely pathogenic	Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA379790517	rs_2496931481	2 SubmittersRCV005045198 RCV003062345
NM_000352.6(ABCC8):c.4207A>G (p.Ile1403Val)	SNV Germline	Chr11:17395710	Conflicting classifications of pathogenicity	Condition: not provided Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia	Criteria Provided Conflicting Classifications	CA218407992	rs_913334458	2 SubmittersRCV003078854 RCV005045267
NM_000352.6(ABCC8):c.1555C>T (p.Arg519Cys)	SNV Germline	Chr11:17442795	Conflicting classifications of pathogenicity	Condition: not provided Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3	Criteria Provided Conflicting Classifications	CA5903533	rs_1057467571	2 SubmittersRCV003083380 RCV005045231
NM_000352.6(ABCC8):c.1630+1G>A	SNV Germline	Chr11:17442719	Pathogenic/Likely pathogenic	Familial hyperinsulinism Inborn genetic diseases Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Multiple Submitters No Conflicts	CA5903513	rs_773306994	4 SubmittersRCV002510390 RCV002569434 RCV003464567 RCV003321952
NM_000352.6(ABCC8):c.4177C>T (p.Arg1393Cys)	SNV Germline	Chr11:17395873	Pathogenic/Likely pathogenic	Condition: not provided Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3	Criteria Provided Multiple Submitters No Conflicts	CA5902548	rs_776610373	3 SubmittersRCV003112211 RCV003475528 RCV005047417
NM_000352.6(ABCC8):c.298G>A (p.Glu100Lys)	SNV Germline	Chr11:17470215	Conflicting classifications of pathogenicity	Condition: not provided Leucine-induced hypoglycemia Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3	Criteria Provided Conflicting Classifications	CA5903914	rs_200687571	2 SubmittersRCV002636095 RCV005042934
NM_000352.6(ABCC8):c.1819G>A (p.Val607Met)	SNV Germline	Chr11:17428669	Likely pathogenic	Condition: not provided Maturity onset diabetes mellitus in young 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	CA5903419	rs_377405677	3 SubmittersRCV003151472 RCV005438173 RCV005047440
NM_000352.6(ABCC8):c.122T>C (p.Phe41Ser)	SNV Germline	Chr11:17476655	Likely pathogenic	not specified Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter	CA379789885	rs_2496929792	2 SubmittersRCV003151531 RCV004786882
NM_000352.6(ABCC8):c.3551C>A (p.Ala1184Glu)	SNV Germline	Chr11:17404518	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter	CA218417179	rs_137852675	1 SubmittersRCV003322255
NM_000352.6(ABCC8):c.4259G>A (p.Arg1420His)	SNV Germline	Chr11:17395658	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Condition: not provided	Criteria Provided Conflicting Classifications	CA379786666	rs_1272388614	4 SubmittersRCV003322256 RCV003466058 RCV005047525 RCV005102900
NM_000352.6(ABCC8):c.4114C>T (p.Gln1372Ter)	SNV Germline	Chr11:17396921	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter	CA5902582	rs_530152803	1 SubmittersRCV003322258
NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu)	SNV Germline	Chr11:17396959	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Condition: not provided Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA5902590	rs_377686759	4 SubmittersRCV003322259 RCV005047526 RCV003561296 RCV003466059
NM_000352.6(ABCC8):c.3995C>A (p.Ser1332Ter)	SNV Germline	Chr11:17397040	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter	CA379791285	rs_552324811	1 SubmittersRCV003322260
NM_000352.6(ABCC8):c.3447T>A (p.Cys1149Ter)	SNV Germline	Chr11:17404622	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter	CA5902804	rs_764564256	1 SubmittersRCV003322262
NM_000352.6(ABCC8):c.3440T>G (p.Leu1147Arg)	SNV Germline	Chr11:17404629	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 ABCC8-related disorder Condition: not provided Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA379798436	rs_1262517518	5 SubmittersRCV003322263 RCV004736333 RCV004719319 RCV003466060
NM_000352.6(ABCC8):c.3163-1G>A	SNV Germline	Chr11:17406789	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA5902895	rs_754232612	2 SubmittersRCV003322266 RCV003475560
NM_000352.6(ABCC8):c.2980G>T (p.Glu994Ter)	SNV Germline	Chr11:17407070	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter	CA379804085	rs_766921341	1 SubmittersRCV003322268
NM_000352.6(ABCC8):c.2151C>A (p.Cys717Ter)	SNV Germline	Chr11:17427120	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter	CA5903289	rs_776027296	1 SubmittersRCV003322271
NM_000352.6(ABCC8):c.4453C>T (p.Gln1485Ter)	SNV Germline	Chr11:17394358	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter	CA379783441	rs_1252605804	1 SubmittersRCV003322272
NM_000352.6(ABCC8):c.1290G>A (p.Trp430Ter)	SNV Germline	Chr11:17448558	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA5903624	rs_767500007	2 SubmittersRCV003322273 RCV004763649
NM_000352.6(ABCC8):c.148+1G>A	SNV Germline	Chr11:17476628	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA5903972	rs_766312766	2 SubmittersRCV003322277 RCV005047527
NM_000352.6(ABCC8):c.55C>T (p.Gln19Ter)	SNV Germline	Chr11:17476722	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter	CA379790127	rs_1407486337	1 SubmittersRCV003322281
NM_000352.6(ABCC8):c.4238C>T (p.Pro1413Leu)	SNV Germline	Chr11:17395679	Pathogenic/Likely pathogenic	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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA379786862	rs_1436692401	3 SubmittersRCV003463196 RCV005047597 RCV003553959
NM_000352.6(ABCC8):c.2497C>T (p.Gln833Ter)	SNV Germline	Chr11:17412725	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA379807620	rs_2496572258	2 SubmittersRCV004596587 RCV003476601
NM_000352.6(ABCC8):c.4661G>T (p.Gly1554Val)	SNV Germline	Chr11:17393076	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	Criteria Provided Multiple Submitters No Conflicts	CA5902387	rs_760494159	2 SubmittersRCV003693258 RCV005047758
NM_000352.6(ABCC8):c.3867+1G>A	SNV Germline	Chr11:17397683	Likely pathogenic	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3	Criteria Provided Multiple Submitters No Conflicts	CA379792969	rs_2496469312	2 SubmittersRCV003702193 RCV005047774
NM_000352.6(ABCC8):c.1577G>A (p.Arg526His)	SNV Germline	Chr11:17442773	Conflicting classifications of pathogenicity	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Conflicting Classifications	CA5903522	rs_144481621	3 SubmittersRCV003849048 RCV005412608 RCV005040562
NM_000352.6(ABCC8):c.4105G>A (p.Ala1369Thr)	SNV Germline	Chr11:17396930	Conflicting classifications of pathogenicity	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3	Criteria Provided Conflicting Classifications	CA5902584	rs_757110	2 SubmittersRCV003851783 RCV005051407
NM_000352.6(ABCC8):c.2470G>T (p.Glu824Ter)	SNV Germline	Chr11:17413399	Pathogenic	Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia	Criteria Provided Multiple Submitters No Conflicts		rs_2496577975	2 SubmittersRCV004576758 RCV005040700
NM_000352.6(ABCC8):c.2689G>T (p.Asp897Tyr)	SNV Germline	Chr11:17410521	Conflicting classifications of pathogenicity	Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia not specified	Criteria Provided Conflicting Classifications		rs_2496556981	2 SubmittersRCV005051454 RCV004587701
NM_000352.6(ABCC8):c.1468-14G>A	SNV Germline	Chr11:17442896	Conflicting classifications of pathogenicity	not specified Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, permanent neonatal 3 Leucine-induced hypoglycemia	Criteria Provided Conflicting Classifications			2 SubmittersRCV004701110 RCV005040756
NM_000352.6(ABCC8):c.2507G>A (p.Arg836Gln)	SNV Germline	Chr11:17412715	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter			1 SubmittersRCV004776322
NM_000352.6(ABCC8):c.3650+2T>G	SNV Germline	Chr11:17402659	Pathogenic	Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter			1 SubmittersRCV005046544
NM_000352.6(ABCC8):c.3650+2T>C	SNV Germline	Chr11:17402659	Likely pathogenic	Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter			1 SubmittersRCV005046546
NM_000352.6(ABCC8):c.3399G>T (p.Gln1133His)	SNV Germline	Chr11:17405494	Likely pathogenic	Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter			1 SubmittersRCV005046551
NM_000352.6(ABCC8):c.3261G>A (p.Trp1087Ter)	SNV Germline	Chr11:17406690	Likely pathogenic	Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter			1 SubmittersRCV005046556
NM_000352.6(ABCC8):c.3162+1G>A	SNV Germline	Chr11:17406887	Likely pathogenic	Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter			1 SubmittersRCV005046560
NM_000352.6(ABCC8):c.3009C>G (p.Tyr1003Ter)	SNV Germline	Chr11:17407041	Likely pathogenic	Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter			1 SubmittersRCV005050065
NM_000352.6(ABCC8):c.2917G>T (p.Glu973Ter)	SNV Germline	Chr11:17407357	Likely pathogenic	Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter			1 SubmittersRCV005046569
NM_000352.6(ABCC8):c.1924-18C>A	SNV Germline	Chr11:17428423	Conflicting classifications of pathogenicity	Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005046592 RCV005105368
NM_000352.6(ABCC8):c.1468-2A>G	SNV Germline	Chr11:17442884	Likely pathogenic	Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter			1 SubmittersRCV005046602
NM_000352.6(ABCC8):c.580-1G>C	SNV Germline	Chr11:17461826	Likely pathogenic	Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter			1 SubmittersRCV005050081
NM_000352.6(ABCC8):c.25G>T (p.Glu9Ter)	SNV Germline	Chr11:17476752	Pathogenic	Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter			1 SubmittersRCV005046632
NM_000352.6(ABCC8):c.4288C>T (p.Leu1430Phe)	SNV Germline	Chr11:17395629	Conflicting classifications of pathogenicity	Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005046527 RCV005105365
NM_000352.6(ABCC8):c.4174T>A (p.Phe1392Ile)	SNV Germline	Chr11:17395876	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter			1 SubmittersRCV005411161
NM_000352.6(ABCC8):c.2116+3A>G	SNV Germline	Chr11:17427864	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter			1 SubmittersRCV005412156
NM_000352.6(ABCC8):c.3330-2A>G	SNV Germline	Chr11:17405565	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter			1 SubmittersRCV005426979

NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln)

SNV
Germline

Chr11:17395610

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Familial hyperinsulinism
Hereditary hyperinsulinism
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA254627

rs_387906407

10 SubmittersRCV000009654 RCV001040039 RCV001260357 RCV001826455 RCV003466843

NM_000352.6(ABCC8):c.3989-9G>A

SNV
Germline

Chr11:17397055

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA233276

rs_151344623

20 SubmittersRCV000009656 RCV000144995 RCV000590487 RCV001267446 RCV001277185 RCV002467491 RCV004532316 RCV003473069 RCV005049326 RCV005357102

NM_000352.6(ABCC8):c.2292-1G>A

SNV
Germline

Chr11:17414611

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Familial hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA379809823

rs_1564905676

3 SubmittersRCV000009658 RCV001328359 RCV002251423 RCV002251422

NM_000352.6(ABCC8):c.1672-20A>G

SNV
Germline

Chr11:17430979

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Type 2 diabetes mellitus
Familial hyperinsulinism

Criteria Provided
Conflicting Classifications

CA597666381

rs_931436550

8 SubmittersRCV000009659 RCV001851768 RCV002266899 RCV002266898 RCV003460445 RCV004525849

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

SNV
Germline

Chr11:17396980

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA254629

rs_28936370

4 SubmittersRCV000009662 RCV001851769 RCV002504772

NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)

SNV
Germline

Chr11:17395659

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA254631

rs_28938469

9 SubmittersRCV000009663 RCV001235181 RCV005042018 RCV001831557 RCV003473070

NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp)

SNV
Germline/somatic

Chr11:17394334

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
Diabetes mellitus, transient neonatal, 2
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA254633

rs_28936371

10 SubmittersRCV000009664 RCV000710390 RCV001831558 RCV005042019 RCV004549354 RCV003466844

NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys)

SNV
Germline

Chr11:17394295

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA248483

rs_137852671

7 SubmittersRCV000009665 RCV000201911

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

SNV
Germline

Chr11:17396980

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA120108

rs_28936370

5 SubmittersRCV000009666 RCV001851770 RCV003466845 RCV005042020

NM_000352.6(ABCC8):c.560T>A (p.Val187Asp)

SNV
Germline

Chr11:17463457

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA254635

rs_137852672

7 SubmittersRCV000009667 RCV000723825 RCV005042021 RCV003473071

NM_000352.6(ABCC8):c.2147G>T (p.Gly716Val)

SNV
Germline

Chr11:17427124

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided

No Assertion Criteria Provided

CA220124

rs_72559723

2 SubmittersRCV000009655 RCV000077845

NM_000352.6(ABCC8):c.-19A>G

SNV
Germline

Chr11:17476795

Conflicting classifications of pathogenicity

not specified
Permanent neonatal diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, transient neonatal, 2
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA213433

rs_193922394

5 SubmittersRCV000242519 RCV000267816 RCV000382247 RCV000325185 RCV001668134 RCV002254149 RCV002254148

NM_000352.6(ABCC8):c.1572G>A (p.Thr524=)

SNV
Germline

Chr11:17442778

Conflicting classifications of pathogenicity

not specified
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Hereditary hyperinsulinism
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA213434

rs_61748766

10 SubmittersRCV000242823 RCV000295869 RCV000334556 RCV000402755 RCV000710373 RCV001826508 RCV002266903 RCV002266904

NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys)

SNV
Germline

Chr11:17442734

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA213441

rs_193922397

5 SubmittersRCV001823102 RCV002266905 RCV003137542 RCV002266906 RCV005042085

NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln)

SNV
Germline

Chr11:17404524

Pathogenic/Likely pathogenic

Neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA207783

rs_193922400

5 SubmittersRCV000029257 RCV000193953 RCV001388602 RCV003989301

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

SNV
Germline/somatic

Chr11:17395949

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA171080

rs_1800853

10 SubmittersRCV000144997 RCV001277183 RCV001523332 RCV001533257 RCV001533259 RCV001533256 RCV001533258 RCV002226656

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

SNV
Germline

Chr11:17463609

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA213453

rs_186946111

6 SubmittersRCV000876485 RCV000763721 RCV002254151 RCV002254150 RCV001818179 RCV002513234

NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)

SNV
Germline

Chr11:17395852

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA260102

rs_137852676

10 SubmittersRCV000009657 RCV000029263 RCV001390783 RCV001277179 RCV003466873 RCV003321485 RCV005042088

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

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

Criteria Provided
Conflicting Classifications

CA213463

rs_193922404

7 SubmittersRCV000517239 RCV001274287 RCV002243668 RCV002243667 RCV003556088 RCV002482906 RCV004541018

NM_000352.6(ABCC8):c.4451G>A (p.Gly1484Glu)

SNV
Germline/somatic

Chr11:17394360

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Condition: not provided

Criteria Provided
Conflicting Classifications

CA260107

rs_193922405

3 SubmittersRCV000029267 RCV002243670 RCV002243669 RCV004998106

NM_000352.6(ABCC8):c.1333-1013A>G

SNV
Germline

Chr11:17444325

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA218446294

rs_980458021

5 SubmittersRCV000032668 RCV001211946 RCV003466885 RCV005042102

NM_000352.6(ABCC8):c.1158C>T (p.Asn386=)

SNV
Germline

Chr11:17453137

Conflicting classifications of pathogenicity

not specified
Permanent neonatal diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, transient neonatal, 2
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Hereditary hyperinsulinism

Criteria Provided
Conflicting Classifications

CA171036

rs_60824529

8 SubmittersRCV000144976 RCV000328896 RCV000367291 RCV000276247 RCV000710370 RCV002259700 RCV002253239 RCV001826796

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

SNV
Germline/somatic

Chr11:17430945

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA171042

rs_1799857

11 SubmittersRCV000144979 RCV000302706 RCV000402117 RCV000576376 RCV001520136 RCV001533249 RCV001272238 RCV002226677 RCV001533248

NM_000352.6(ABCC8):c.1926C>G (p.Pro642=)

SNV
Germline/somatic

Chr11:17428403

Conflicting classifications of pathogenicity

not specified
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA171045

rs_75376282

9 SubmittersRCV000144980 RCV000347248 RCV000289964 RCV000381876 RCV000967194 RCV001272236 RCV002266926 RCV002266925 RCV002408645

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

SNV
Germline/somatic

Chr11:17428382

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA171048

rs_1799858

10 SubmittersRCV000144981 RCV000378609 RCV000286519 RCV000576654 RCV001272235 RCV001533247 RCV001512802 RCV001533246 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
Leucine-induced hypoglycemia
Diabetes mellitus, permanent neonatal 3
Hereditary hyperinsulinism
Hyperinsulinemia

Criteria Provided
Conflicting Classifications

CA171051

rs_1048099

12 SubmittersRCV000144982 RCV000314568 RCV000334473 RCV000405380 RCV000576854 RCV001533252 RCV001533269 RCV001272249 RCV002226679

NM_000352.6(ABCC8):c.2538C>T (p.His846=)

SNV
Germline/somatic

Chr11:17412684

Conflicting classifications of pathogenicity

not specified
Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA171062

rs_73423037

7 SubmittersRCV000144987 RCV000396687 RCV000279197 RCV000338883 RCV000865324 RCV002243798 RCV002243799

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.3612C>T (p.Ala1204=)

SNV
Germline/somatic

Chr11:17402699

Conflicting classifications of pathogenicity

not specified
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA171071

rs_149861153

10 SubmittersRCV000144993 RCV000283418 RCV000337179 RCV000377901 RCV000710381 RCV001277188 RCV002243801 RCV002243800 RCV002453465

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
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA171081

rs_739689

4 SubmittersRCV000144998 RCV001533260 RCV001533261 RCV001533262 RCV001533263 RCV001682843 RCV002243803 RCV002243802

NM_000352.6(ABCC8):c.423G>A (p.Val141=)

SNV
Germline

Chr11:17463594

Conflicting classifications of pathogenicity

not specified
Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Condition: not provided
Hereditary hyperinsulinism
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA171082

rs_116132921

9 SubmittersRCV000145000 RCV000277787 RCV000297828 RCV000370073 RCV000710387 RCV001272246 RCV002254155 RCV003105797

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

SNV
Germline/somatic

Chr11:17463424

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA171092

rs_2301703

10 SubmittersRCV000145005 RCV000378527 RCV000286439 RCV000340412 RCV000576808 RCV001533251 RCV002226684 RCV001533250

NM_000352.6(ABCC8):c.823-8C>T

SNV
Germline

Chr11:17460684

Conflicting classifications of pathogenicity

not specified
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Diabetes mellitus, permanent neonatal 3
Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

CA171093

rs_201000679

5 SubmittersRCV000145006 RCV002273818 RCV002253240 RCV002467586 RCV002514783 RCV004532639

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

SNV
Germline

Chr11:17393109

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274017

rs_72559713

8 SubmittersRCV000169185 RCV002492687 RCV001826866 RCV003468836 RCV004535147 RCV000800626

NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn)

SNV
Germline

Chr11:17395172

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Familial hyperinsulinism
Hereditary hyperinsulinism
Condition: not provided
ABCC8-related disorder
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

CA274147

rs_72559716

9 SubmittersRCV000169299 RCV000586940 RCV001277177 RCV001385864 RCV004545752 RCV003468839 RCV005042353

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

SNV
Germline

Chr11:17407417

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274108

rs_541269678

12 SubmittersRCV000169265 RCV000780808 RCV001040693 RCV004567366 RCV002505223

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
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
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
Hereditary hyperinsulinism
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
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

Criteria Provided
Multiple Submitters
No Conflicts

CA248477

rs_72559722

14 SubmittersRCV000169276 RCV000201895 RCV001277195 RCV000763234 RCV003462267 RCV004555856 RCV005042352

NM_000352.6(ABCC8):c.2116+2T>C

SNV
Germline

Chr11:17427865

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Multiple Submitters
No Conflicts

CA274353

rs_786204676

4 SubmittersRCV000169482 RCV001376866 RCV004556759 RCV002251436

NM_000352.6(ABCC8):c.291-2A>G

SNV
Germline

Chr11:17470224

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Transitory neonatal diabetes mellitus
Type 2 diabetes mellitus
Condition: not provided
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA274374

rs_786204695

5 SubmittersRCV000169506 RCV002254282 RCV004567370 RCV000802759 RCV002254156

NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)

SNV
Germline

Chr11:17410600

Conflicting classifications of pathogenicity

Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
Condition: not provided
Hereditary hyperinsulinism
Inborn genetic diseases
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Conflicting Classifications

CA242142

rs_111967655

8 SubmittersRCV000296584 RCV000351650 RCV000176259 RCV001274297 RCV003165366 RCV002251441 RCV002251440 RCV000406499

NM_000352.6(ABCC8):c.4119+1G>A

SNV
Germline

Chr11:17396915

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

CA277130

rs_797045211

2 SubmittersRCV000193386

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
Type 2 diabetes mellitus
Diabetes mellitus, permanent neonatal 3
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Condition: not provided
Familial hyperinsulinism
ABCC8-related disorder
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 12
Diabetes mellitus, permanent neonatal 3

Criteria Provided
Multiple Submitters
No Conflicts

CA206064

rs_797045209

8 SubmittersRCV000192916 RCV001640282 RCV002051825 RCV002500586 RCV002517038 RCV003987437 RCV005230050 RCV005410894 RCV005410893

NM_000352.6(ABCC8):c.2117-1G>A

SNV
Germline

Chr11:17427155

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Type 2 diabetes mellitus
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA277400

rs_797045207

3 SubmittersRCV000194857 RCV003462298 RCV003556242

NM_000352.6(ABCC8):c.1707C>T (p.Ala569=)

SNV
Germline

Chr11:17430924

Conflicting classifications of pathogenicity

not specified
Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Diabetes mellitus, permanent neonatal 3
Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA205213

rs_147623093

12 SubmittersRCV000192409 RCV000299115 RCV000356211 RCV000394777 RCV000951012 RCV001507324 RCV001272237 RCV002266930 RCV002266929 RCV002399710

NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val)

SNV
Germline

Chr11:17443261

Conflicting classifications of pathogenicity

not specified
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Hereditary hyperinsulinism
Type 2 diabetes mellitus
Condition: not provided
ABCC8-related disorder
Inborn genetic diseases
Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Pulmonary arterial hypertension

Criteria Provided
Conflicting Classifications

CA207378

rs_117874766

11 SubmittersRCV000193705 RCV000360233 RCV000303097 RCV000396751 RCV001279195 RCV001336811 RCV001546216 RCV004734847 RCV002514096 RCV004558438 RCV005365113

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

SNV
Germline

Chr11:17448596

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA205176

rs_67254669

17 SubmittersRCV000192390 RCV000666629 RCV000763720 RCV000710372 RCV001272242 RCV001336810 RCV001102903 RCV001102904 RCV001449652 RCV003491936 RCV004530090 RCV005042408 RCV005361103

NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)

SNV
Germline

Chr11:17453232

Conflicting classifications of pathogenicity

not specified
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Hereditary hyperinsulinism
Permanent neonatal diabetes mellitus
Inborn genetic diseases
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
Conflicting Classifications

CA208474

rs_145136257

14 SubmittersRCV000194352 RCV000333629 RCV000662059 RCV000710368 RCV001835716 RCV000279694 RCV002517037 RCV000662058 RCV005042407

NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)

SNV
Germline

Chr11:17463454

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA276976

rs_797045213

11 SubmittersRCV000192482 RCV000517846 RCV001833135 RCV003227708 RCV004567393 RCV005049469

NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)

SNV
Germline

Chr11:17470182

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277230

rs_761749884

9 SubmittersRCV000193936 RCV001804929 RCV003468881 RCV001068772 RCV005042410

NM_000352.6(ABCC8):c.239T>G (p.Met80Arg)

SNV
Germline

Chr11:17474937

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA277044

rs_797045208

3 SubmittersRCV000192892 RCV005042409

NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)

SNV
Germline

Chr11:17461722

Pathogenic/Likely pathogenic

Condition: not provided
Familial hyperinsulinism
Hyperinsulinemic hypoglycemia, familial, 1
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
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA279580

rs_863225280

8 SubmittersRCV000201871 RCV000590369 RCV000984139 RCV002253285 RCV005042434 RCV003462355

NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln)

SNV
Germline

Chr11:17460675

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903742

rs_185040406

10 SubmittersRCV000369588 RCV000490279 RCV000671927 RCV001108196 RCV001108197 RCV001279202 RCV001818510 RCV004796105

NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp)

SNV
Germline

Chr11:17402671

Pathogenic

Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1
Familial hyperinsulinism
Hereditary hyperinsulinism
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA5902756

rs_139964066

6 SubmittersRCV000223959 RCV000666191 RCV000588494 RCV001828097 RCV003469115

NM_000352.6(ABCC8):c.354C>T (p.Val118=)

SNV
Germline

Chr11:17470159

Conflicting classifications of pathogenicity

Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
not specified
Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5903902

rs_137873871

10 SubmittersRCV000265731 RCV000377126 RCV000323715 RCV000710380 RCV000254079 RCV001272248 RCV002254159 RCV002254158 RCV002450766

NM_000352.6(ABCC8):c.-8G>T

SNV
Germline

Chr11:17476784

Conflicting classifications of pathogenicity

not specified
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5904006

rs_200091822

6 SubmittersRCV000245897 RCV000302860 RCV000359986 RCV000264204 RCV001532154

NM_000352.6(ABCC8):c.4146T>G (p.Ser1382Arg)

SNV
Germline

Chr11:17395904

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

No Assertion Criteria Provided

CA10588932

rs_886039877

1 SubmittersRCV000256388

NM_000352.6(ABCC8):c.4308-2A>G

SNV
Germline

Chr11:17395277

Pathogenic/Likely pathogenic

Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1
Maturity onset diabetes mellitus in young
Neonatal diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA10603180

rs_886041391

5 SubmittersRCV000334836 RCV000984137 RCV002274007 RCV004556774

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

SNV
Germline

Chr11:17397205

Conflicting classifications of pathogenicity

Condition: not provided
Monogenic diabetes
not specified
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

Criteria Provided
Conflicting Classifications

CA5902631

rs_200563930

6 SubmittersRCV000339446 RCV000664136 RCV002282111 RCV002494880 RCV001810444

NM_000352.6(ABCC8):c.4647C>T (p.Ile1549=)

SNV
Germline/somatic

Chr11:17393090

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5902392

rs_367862706

4 SubmittersRCV000259922 RCV000317437 RCV000357088 RCV002244754 RCV002244753 RCV000979519 RCV002338878

NM_000352.6(ABCC8):c.3399+13G>A

SNV
Germline/somatic

Chr11:17405481

Conflicting classifications of pathogenicity

Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
not specified
Transitory neonatal diabetes mellitus
Condition: not provided
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA5902838

rs_182340196

7 SubmittersRCV000261950 RCV000321738 RCV000672176 RCV000455279 RCV002244773 RCV001519906 RCV002244772

NM_000352.6(ABCC8):c.3224T>C (p.Ile1075Thr)

SNV
Germline/somatic

Chr11:17406727

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5902881

rs_745895362

2 SubmittersRCV000287952 RCV000346537 RCV000382269 RCV002250620 RCV002250619

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

SNV
Germline

Chr11:17410575

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903065

rs_531684936

6 SubmittersRCV000331715 RCV000386179 RCV000290773 RCV001820892 RCV002480109 RCV002520699 RCV002520700

NM_000352.6(ABCC8):c.2256-3C>T

SNV
Germline

Chr11:17415342

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903234

rs_756328102

2 SubmittersRCV000280533 RCV000315649 RCV000374966 RCV002251458 RCV002251457

NM_000352.6(ABCC8):c.2256-9C>T

SNV
Germline

Chr11:17415348

Conflicting classifications of pathogenicity

Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Maturity onset diabetes mellitus in young
Condition: not provided
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA10630470

rs_886048052

3 SubmittersRCV000286566 RCV000340459 RCV000376418 RCV002251459 RCV002520702 RCV002251460

NM_000352.6(ABCC8):c.2060C>T (p.Thr687Met)

SNV
Germline

Chr11:17427923

Conflicting classifications of pathogenicity

Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA5903318

rs_150316347

3 SubmittersRCV000276185 RCV000314838 RCV000367366 RCV000871729 RCV002251461 RCV002251462

NM_000352.6(ABCC8):c.1605C>T (p.Ala535=)

SNV
Germline

Chr11:17442745

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Condition: not provided
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA10630471

rs_886048055

3 SubmittersRCV000293105 RCV000330959 RCV000387749 RCV002266948 RCV002056181 RCV002266949

NM_000352.6(ABCC8):c.486C>T (p.Ile162=)

SNV
Germline

Chr11:17463531

Conflicting classifications of pathogenicity

Permanent neonatal diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, transient neonatal, 2
Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus
ABCC8-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA5903864

rs_149872185

5 SubmittersRCV000312282 RCV000347325 RCV000396828 RCV000918189 RCV002254160 RCV002254521 RCV004544511 RCV005418070

NM_000352.6(ABCC8):c.4690A>G (p.Lys1564Glu)

SNV
Germline

Chr11:17393047

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, transient neonatal, 2
Condition: not provided
Permanent neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA5902382

rs_770317560

2 SubmittersRCV000275583 RCV000318584 RCV002520698 RCV000367803

NM_000352.6(ABCC8):c.4605C>T (p.Ile1535=)

SNV
Germline/somatic

Chr11:17393700

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA5902423

rs_780203284

3 SubmittersRCV000287014 RCV000321052 RCV000379102 RCV001476298 RCV002244756 RCV002244755

NM_000352.6(ABCC8):c.4239G>T (p.Pro1413=)

SNV
Germline

Chr11:17395678

Conflicting classifications of pathogenicity

Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1
Hereditary hyperinsulinism

Criteria Provided
Conflicting Classifications

CA5902525

rs_373478721

5 SubmittersRCV000354588 RCV000297318 RCV000975624 RCV000399523 RCV001277178

NM_000352.6(ABCC8):c.4119+15C>T

SNV
Germline/somatic

Chr11:17396901

Conflicting classifications of pathogenicity

Permanent neonatal diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, transient neonatal, 2
Condition: not provided
Maturity onset diabetes mellitus in young
not specified
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA5902577

rs_58368439

5 SubmittersRCV000265605 RCV000327754 RCV000384793 RCV002056179 RCV002244759 RCV004586673 RCV002244760

NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=)

SNV
Germline/somatic

Chr11:17397206

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5902632

rs_138141427

8 SubmittersRCV000299357 RCV000340284 RCV000401324 RCV000501079 RCV000872611 RCV002246117 RCV002246116 RCV002374518

NM_000352.6(ABCC8):c.3858C>T (p.Tyr1286=)

SNV
Germline/somatic

Chr11:17397693

Conflicting classifications of pathogenicity

Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Transitory neonatal diabetes mellitus
Condition: not provided
ABCC8-related disorder
Maturity onset diabetes mellitus in young
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5902682

rs_377045545

6 SubmittersRCV000275432 RCV000310742 RCV000365441 RCV002246121 RCV000915714 RCV004537708 RCV002246120 RCV002356417

NM_000352.6(ABCC8):c.3552G>A (p.Ala1184=)

SNV
Germline/somatic

Chr11:17404517

Conflicting classifications of pathogenicity

Permanent neonatal diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, transient neonatal, 2
not specified
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA5902784

rs_144207158

4 SubmittersRCV000273585 RCV000314454 RCV000368056 RCV000502198 RCV000932525 RCV002244769 RCV002244768

NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys)

SNV
Germline

Chr11:17413447

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903144

rs_202189540

5 SubmittersRCV000310642 RCV000273521 RCV005044566 RCV004021505 RCV000368130 RCV005051772

NM_000352.6(ABCC8):c.2041-12C>T

SNV
Germline

Chr11:17427954

Conflicting classifications of pathogenicity

Permanent neonatal diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, transient neonatal, 2
not specified
Hereditary hyperinsulinism
Condition: not provided
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

CA5903321

rs_201419039

8 SubmittersRCV000318223 RCV000260794 RCV000353291 RCV000517738 RCV001272234 RCV001414351 RCV004544510

NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr)

SNV
Germline

Chr11:17442813

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903536

rs_761748692

7 SubmittersRCV000280602 RCV000337979 RCV000396760 RCV002266950 RCV002520703 RCV002266951 RCV004537710 RCV005044567

NM_000352.6(ABCC8):c.413-15A>G

SNV
Germline

Chr11:17463619

Conflicting classifications of pathogenicity

Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5903875

rs_758744263

3 SubmittersRCV000262641 RCV000320143 RCV000354986 RCV002254290 RCV002254161 RCV003736699

NM_000352.6(ABCC8):c.3989-10C>T

SNV
Germline/somatic

Chr11:17397056

Conflicting classifications of pathogenicity

Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Transitory neonatal diabetes mellitus
not specified
Condition: not provided
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA5902604

rs_373737642

5 SubmittersRCV000279547 RCV000334553 RCV000397452 RCV002246115 RCV003323504 RCV000942711 RCV002244761

NM_000352.6(ABCC8):c.3558-8C>T

SNV
Germline/somatic

Chr11:17402761

Conflicting classifications of pathogenicity

Permanent neonatal diabetes mellitus
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

CA5902766

rs_544550330

3 SubmittersRCV000308839 RCV000344478 RCV000396524 RCV000883975 RCV002244766 RCV002244767

NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=)

SNV
Germline/somatic

Chr11:17404634

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Inborn genetic diseases
not specified
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

CA5902807

rs_371089976

7 SubmittersRCV000260467 RCV000315723 RCV000369085 RCV000941651 RCV002244771 RCV002244770 RCV002450850 RCV005238873 RCV004537709

NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn)

SNV
Germline/somatic

Chr11:17406938

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5902919

rs_367974472

6 SubmittersRCV000292832 RCV000352427 RCV000394844 RCV002250621 RCV002056180 RCV001278400 RCV002251452 RCV005044564

NM_000352.6(ABCC8):c.2694+15G>A

SNV
Germline

Chr11:17410501

Conflicting classifications of pathogenicity

Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10637950

rs_886048051

3 SubmittersRCV000269894 RCV000324985 RCV000384255 RCV002251456 RCV002251455 RCV003708509

NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys)

SNV
Germline/somatic

Chr11:17412722

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5903107

rs_140068774

4 SubmittersRCV000303371 RCV000339611 RCV000396695 RCV002244775 RCV002244774 RCV002520701

NM_000352.6(ABCC8):c.1920G>A (p.Ala640=)

SNV
Germline

Chr11:17428568

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903396

rs_146156937

8 SubmittersRCV000295518 RCV000352596 RCV000404181 RCV000590129 RCV002266945 RCV002266944 RCV003298364

NM_000352.6(ABCC8):c.105G>A (p.Pro35=)

SNV
Germline

Chr11:17476672

Conflicting classifications of pathogenicity

Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Hereditary hyperinsulinism
Maturity onset diabetes mellitus in young
ABCC8-related disorder
not specified
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA5903981

rs_199925058

7 SubmittersRCV000299216 RCV000356645 RCV000394438 RCV000899129 RCV001276289 RCV002254164 RCV004537712 RCV001820893 RCV002254165

NM_000352.6(ABCC8):c.-49G>C

SNV
Germline

Chr11:17476825

Conflicting classifications of pathogenicity

Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA5904014

rs_77498130

3 SubmittersRCV000271414 RCV000328844 RCV000385742 RCV001660591 RCV002254292 RCV002254291

NM_000352.6(ABCC8):c.4199-8C>T

SNV
Germline/somatic

Chr11:17395726

Conflicting classifications of pathogenicity

Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA10638595

rs_886048048

3 SubmittersRCV000266607 RCV000324311 RCV000358028 RCV001495943 RCV002244757 RCV002244758

NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile)

SNV
Germline

Chr11:17396945

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5902586

rs_138642224

9 SubmittersRCV000349002 RCV000296366 RCV000710383 RCV004734966 RCV001833441 RCV005044563 RCV000387248 RCV001820891

NM_000352.6(ABCC8):c.3951C>G (p.Leu1317=)

SNV
Germline/somatic

Chr11:17397230

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5902636

rs_765708759

4 SubmittersRCV000269973 RCV000305055 RCV000359920 RCV002246119 RCV000877067 RCV002246118 RCV002356416

NM_000352.6(ABCC8):c.2937C>T (p.Ser979=)

SNV
Germline

Chr11:17407113

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5902966

rs_780868010

4 SubmittersRCV000264215 RCV000323996 RCV000359855 RCV002251454 RCV004021504 RCV002251453 RCV002522189

NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln)

SNV
Germline

Chr11:17428371

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903364

rs_146378237

6 SubmittersRCV000264134 RCV000321571 RCV000375215 RCV000876083 RCV001274299 RCV005418069

NM_000352.6(ABCC8):c.291-3C>T

SNV
Germline

Chr11:17470225

Conflicting classifications of pathogenicity

Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
not specified
Condition: not provided
Maturity onset diabetes mellitus in young
ABCC8-related disorder
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA5903915

rs_764107333

6 SubmittersRCV000291838 RCV000349251 RCV000383921 RCV000499468 RCV000710052 RCV002254162 RCV004537711 RCV002254163

NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln)

SNV
Germline

Chr11:17394333

Pathogenic/Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA16041433

rs_746480424

6 SubmittersRCV000411593 RCV001383606 RCV003470337

NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter)

SNV
Germline

Chr11:17395230

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Type 2 diabetes mellitus
Condition: not provided
Neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA16041435

rs_1057516404

5 SubmittersRCV000409836 RCV003475943 RCV001380090 RCV004556782 RCV002244843

NM_000352.6(ABCC8):c.4021C>T (p.Gln1341Ter)

SNV
Germline/somatic

Chr11:17397014

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Maturity onset diabetes mellitus in young
Condition: not provided
Transitory neonatal diabetes mellitus
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA16041439

rs_1057516718

5 SubmittersRCV000411306 RCV002244849 RCV003558361 RCV002244850 RCV003470332

NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter)

SNV
Germline

Chr11:17398344

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041440

rs_1057516281

7 SubmittersRCV000410347 RCV000779675 RCV001828371 RCV001821133 RCV003463787 RCV005049532

NM_000352.6(ABCC8):c.3400-1G>A

SNV
Germline

Chr11:17404670

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041444

rs_576684889

7 SubmittersRCV000409731 RCV001066925 RCV001277191 RCV001797710 RCV003470338 RCV005044612

NM_000352.6(ABCC8):c.3108G>A (p.Trp1036Ter)

SNV
Germline/somatic

Chr11:17406942

Conflicting classifications of pathogenicity

Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA16041445

rs_1057516585

3 SubmittersRCV001388603 RCV000411424 RCV002251469 RCV002251468

NM_000352.6(ABCC8):c.2695-1G>C

SNV
Germline

Chr11:17408518

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Type 2 diabetes mellitus
Familial hyperinsulinism
Maturity onset diabetes mellitus in young
Condition: not provided
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA16041446

rs_1057517420

5 SubmittersRCV000409858 RCV003470354 RCV000588002 RCV002251474 RCV002523883 RCV002251475

NM_000352.6(ABCC8):c.2255+2T>C

SNV
Germline

Chr11:17416928

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16041448

rs_1057516589

5 SubmittersRCV000411947 RCV002251470 RCV005044609 RCV001210957 RCV003475950 RCV002251471

NM_000352.6(ABCC8):c.1671+1G>C

SNV
Germline

Chr11:17432203

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Familial hyperinsulinism
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA16041451

rs_1057516509

4 SubmittersRCV000412268 RCV002266959 RCV002266958 RCV002307491 RCV003463791

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

SNV
Germline

Chr11:17442719

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5903512

rs_773306994

6 SubmittersRCV000411351 RCV000816954 RCV001272240 RCV003475953 RCV002502422

NM_000352.6(ABCC8):c.1468-2A>C

SNV
Unknown

Chr11:17442884

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

No Assertion Criteria Provided

CA16041453

rs_1057516946

1 SubmittersRCV000411098

NM_000352.6(ABCC8):c.692G>A (p.Trp231Ter)

SNV
Unknown

Chr11:17461713

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

No Assertion Criteria Provided

CA16041456

rs_1057517139

1 SubmittersRCV000410965

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
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
Hereditary hyperinsulinism
ABCC8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA5903947

rs_201682634

8 SubmittersRCV000409175 RCV001203709 RCV002230219 RCV002502430 RCV003463804 RCV001828376 RCV005250049

NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys)

SNV
Germline

Chr11:17453228

Conflicting classifications of pathogenicity

Monogenic diabetes
Condition: not provided
Hereditary hyperinsulinism
Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
not specified

Criteria Provided
Conflicting Classifications

CA5903679

rs_59852838

6 SubmittersRCV000445377 RCV000710369 RCV001272244 RCV001104822 RCV001104821 RCV001104823 RCV002265764

NM_000352.6(ABCC8):c.4451G>T (p.Gly1484Val)

SNV
Germline

Chr11:17394360

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

CA379783463

rs_193922405

1 SubmittersRCV000502822

NM_000352.6(ABCC8):c.4450G>A (p.Gly1484Arg)

SNV
Germline/somatic

Chr11:17394361

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA379783478

rs_1554904102

2 SubmittersRCV000501743 RCV002244969 RCV002244968

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

SNV
Germline

Chr11:17394379

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA218406864

rs_72559715

9 SubmittersRCV000503504 RCV000763232 RCV001848864 RCV000710389 RCV003470623

NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg)

SNV
Germline

Chr11:17395207

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA218407548

rs_971604271

5 SubmittersRCV000503846 RCV001280724

NM_000352.6(ABCC8):c.4109C>T (p.Pro1370Leu)

SNV
Germline/somatic

Chr11:17396926

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA379790212

rs_1554905662

2 SubmittersRCV000504191 RCV002244970 RCV002274043

NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter)

SNV
Germline

Chr11:17407058

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Monogenic diabetes
Hereditary hyperinsulinism
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA5902951

rs_769518471

9 SubmittersRCV000499389 RCV000517672 RCV000664138 RCV001277193 RCV003464074

NM_000352.6(ABCC8):c.2921-9G>A

SNV
Germline

Chr11:17407138

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5902971

rs_757171524

9 SubmittersRCV000502550 RCV001834612 RCV001288417 RCV005431711 RCV003470624 RCV005044751

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

SNV
Germline

Chr11:17427095

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903282

rs_138687850

9 SubmittersRCV000501008 RCV000763719 RCV002056831 RCV001102697 RCV001102698 RCV001102699 RCV001278414 RCV005356014 RCV005044752

NM_000352.6(ABCC8):c.2143G>A (p.Val715Met)

SNV
Germline

Chr11:17427128

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
not specified
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA379813722

rs_1554924142

3 SubmittersRCV000500528 RCV000518807 RCV002251481 RCV002251482

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

SNV
Germline

Chr11:17430839

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5903454

rs_139328569

11 SubmittersRCV000500331 RCV001380990 RCV001829422 RCV002496936 RCV003470626 RCV001797741 RCV004535574

NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His)

SNV
Germline

Chr11:17395872

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5902547

rs_769279368

10 SubmittersRCV000671471 RCV000518373 RCV001277180 RCV003470643 RCV003884589 RCV005044767

NM_000352.6(ABCC8):c.4157C>T (p.Ser1386Phe)

SNV
Germline

Chr11:17395893

Pathogenic

Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA218408231

rs_72559718

3 SubmittersRCV000517310 RCV004577338

NM_000352.6(ABCC8):c.3867+7G>A

SNV
Germline/somatic

Chr11:17397677

Conflicting classifications of pathogenicity

Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
not specified
Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

CA5902678

rs_372198547

9 SubmittersRCV001107658 RCV001107659 RCV000517107 RCV000665490 RCV000876491 RCV002246125 RCV002246124 RCV004535667

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

SNV
Germline

Chr11:17476715

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5903992

rs_200670692

8 SubmittersRCV000588969 RCV001386147 RCV000666072 RCV001829617 RCV002491164 RCV003459458 RCV004545790

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
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, permanent neonatal 3
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
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 RCV000763236 RCV000984140 RCV005044870 RCV003459457

NM_000352.6(ABCC8):c.4446C>A (p.Ser1482Arg)

SNV
Germline/somatic

Chr11:17394365

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Transitory neonatal diabetes mellitus
Condition: not provided
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA379783518

rs_1554904107

4 SubmittersRCV000666196 RCV002245084 RCV003151131 RCV002245083

NM_000352.6(ABCC8):c.4349T>C (p.Leu1450Pro)

SNV
Germline/somatic

Chr11:17395234

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
not specified
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

CA379785565

rs_1554904565

4 SubmittersRCV000670291 RCV002245560 RCV002245559 RCV004689844 RCV005046886

NM_000352.6(ABCC8):c.4008G>C (p.Lys1336Asn)

SNV
Germline

Chr11:17397027

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5902598

rs_67767715

4 SubmittersRCV000666053 RCV001104230 RCV001816668

NM_000352.6(ABCC8):c.3989-3C>G

SNV
Germline/somatic

Chr11:17397049

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658822171

rs_1324242791

4 SubmittersRCV000668524 RCV002245551 RCV002245552 RCV004719929

NM_000352.6(ABCC8):c.3557+1G>A

SNV
Germline

Chr11:17404511

Pathogenic/Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379797270

rs_1554910610

3 SubmittersRCV000671355 RCV002531279

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

SNV
Germline

Chr11:17427034

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903263

rs_377174421

4 SubmittersRCV000674532 RCV002477510 RCV002531354

NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys)

SNV
Germline

Chr11:17442849

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5903548

rs_372307320

8 SubmittersRCV000674549 RCV001383752 RCV002509505 RCV003465538 RCV005046912

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

SNV
Germline

Chr11:17461719

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903799

rs_768017509

5 SubmittersRCV000672033 RCV003987660 RCV002507174 RCV002531303 RCV003459633

NM_000352.6(ABCC8):c.579+2T>A

SNV
Germline

Chr11:17463436

Conflicting classifications of pathogenicity

Maturity onset diabetes mellitus in young
Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Familial hyperinsulinism

Criteria Provided
Conflicting Classifications

CA379779847

rs_1449198328

6 SubmittersRCV002254171 RCV003472134 RCV000671080 RCV005614435 RCV002254172 RCV003994076

NM_000352.6(ABCC8):c.119T>G (p.Leu40Arg)

SNV
Germline

Chr11:17476658

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Transitory neonatal diabetes mellitus
Condition: not provided
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA379789899

rs_1554949242

3 SubmittersRCV000673351 RCV002253560 RCV001816681 RCV002253559

NM_000352.6(ABCC8):c.4608G>A (p.Ala1536=)

SNV
Germline

Chr11:17393697

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA473298008

rs_1439464815

4 SubmittersRCV000671370 RCV001766448 RCV003459624

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

SNV
Germline

Chr11:17395664

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
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

Criteria Provided
Multiple Submitters
No Conflicts

CA379786705

rs_1446306735

5 SubmittersRCV000667823 RCV001202457 RCV002485539 RCV003459588

NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg)

SNV
Germline

Chr11:17395918

Pathogenic/Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA379788454

rs_925231098

5 SubmittersRCV000669782 RCV000710385 RCV003465494

NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser)

SNV
Germline

Chr11:17397788

Pathogenic/Likely pathogenic

Type 2 diabetes mellitus
Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1
Hereditary hyperinsulinism

Criteria Provided
Multiple Submitters
No Conflicts

CA379793654

rs_1185034563

5 SubmittersRCV003459587 RCV001756130 RCV000667689 RCV005614431

NM_000352.6(ABCC8):c.3753+1G>A

SNV
Germline/somatic

Chr11:17398338

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Diabetes mellitus, transient neonatal, 2
Hypoglycemia

Criteria Provided
Conflicting Classifications

CA379793881

rs_1554906786

3 SubmittersRCV000667451 RCV002246131 RCV002246130 RCV003446300 RCV002284423

NM_000352.6(ABCC8):c.3736T>C (p.Trp1246Arg)

SNV
Germline/somatic

Chr11:17398356

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Maturity onset diabetes mellitus in young
Condition: not provided
Transitory neonatal diabetes mellitus
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA379794040

rs_1554906790

4 SubmittersRCV000672200 RCV002245567 RCV001377217 RCV002245568 RCV003465512

NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)

SNV
Germline/somatic

Chr11:17412700

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Type 2 diabetes mellitus
Condition: not provided
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
Familial hyperinsulinism

Criteria Provided
Conflicting Classifications

CA5903102

rs_547150342

8 SubmittersRCV000669690 RCV003472116 RCV001861780 RCV004556812 RCV002245557 RCV005049645 RCV005431861

NM_000352.6(ABCC8):c.2222+1G>T

SNV
Germline

Chr11:17427048

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Familial hyperinsulinism

Criteria Provided
Multiple Submitters
No Conflicts

CA379813382

rs_1554923999

3 SubmittersRCV000668105 RCV000710376 RCV000780810

NM_000352.6(ABCC8):c.1536C>G (p.Tyr512Ter)

SNV
Unknown

Chr11:17442814

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

No Assertion Criteria Provided

CA379766519

rs_765090096

1 SubmittersRCV000672131

NM_000352.6(ABCC8):c.917G>A (p.Arg306His)

SNV
Germline

Chr11:17460582

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided

Criteria Provided
Single Submitter

CA379776919

rs_1409900082

2 SubmittersRCV000669163 RCV002531219

NM_000352.6(ABCC8):c.3868-1G>A

SNV
Germline

Chr11:17397314

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5902656

rs_766431403

7 SubmittersRCV000667948 RCV001220536 RCV002246134 RCV004556811 RCV005418286 RCV003459592 RCV005049641

NM_000352.6(ABCC8):c.3557+1G>T

SNV
Germline/somatic

Chr11:17404511

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Condition: not provided

Criteria Provided
Conflicting Classifications

CA379797269

rs_1554910610

3 SubmittersRCV000666549 RCV002245547 RCV002245546 RCV003565437

NM_000352.6(ABCC8):c.250G>A (p.Val84Ile)

SNV
Germline

Chr11:17474926

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
not specified
Monogenic diabetes
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

CA5903942

rs_775776658

6 SubmittersRCV000670385 RCV002531249 RCV003317330 RCV004026113 RCV004735737

NM_000352.6(ABCC8):c.2041-12C>A

SNV
Germline

Chr11:17427954

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus
not specified
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

CA597666161

rs_201419039

6 SubmittersRCV000670824 RCV002060821 RCV002267008 RCV002267009 RCV005240434 RCV005049648

NM_000352.6(ABCC8):c.2041-21G>A

SNV
Germline

Chr11:17427963

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5903322

rs_746714109

9 SubmittersRCV000669471 RCV001059343 RCV003465492 RCV003278982 RCV005046882 RCV005357891

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

SNV
Germline

Chr11:17442774

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5903524

rs_751279984

6 SubmittersRCV000669267 RCV001383751 RCV002477497 RCV003230568 RCV003459609

NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln)

SNV
Germline

Chr11:17442866

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA379766680

rs_1420601296

6 SubmittersRCV000670691 RCV003155273 RCV005049647 RCV003140067 RCV003472129

NM_000352.6(ABCC8):c.536A>G (p.Tyr179Cys)

SNV
Germline

Chr11:17463481

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA218452824

rs_919281813

3 SubmittersRCV000667913 RCV002530729 RCV005056406

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

SNV
Unknown

Chr11:17474884

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA379786978

rs_1554948310

3 SubmittersRCV000667474 RCV000763235 RCV002254308 RCV002254307

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

SNV
Germline

Chr11:17474968

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Neonatal diabetes mellitus
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA379787961

rs_764349043

3 SubmittersRCV000666377 RCV002051877 RCV003465451

NM_000352.6(ABCC8):c.149-1G>A

SNV
Unknown

Chr11:17475028

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Maturity onset diabetes mellitus in young
Type 2 diabetes mellitus
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA379788741

rs_1554948445

3 SubmittersRCV000666533 RCV002254304 RCV004568501 RCV002273822

NM_000352.6(ABCC8):c.148+2T>G

SNV
Germline

Chr11:17476627

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379789720

rs_1554949176

3 SubmittersRCV000666829 RCV001855468

NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter)

SNV
Germline

Chr11:17393125

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA379781523

rs_1411638309

4 SubmittersRCV000672393 RCV001379884 RCV005046897

NM_000352.6(ABCC8):c.4412-13G>A

SNV
Germline

Chr11:17394412

Pathogenic/Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Hereditary hyperinsulinism
Familial hyperinsulinism
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA5902472

rs_1008906426

10 SubmittersRCV000667182 RCV001387141 RCV001835906 RCV002233099 RCV002249395

NM_000352.6(ABCC8):c.3754-1G>A

SNV
Germline/somatic

Chr11:17397798

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Condition: not provided
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA379793715

rs_1554906449

4 SubmittersRCV000667898 RCV002246133 RCV002246132 RCV002530728 RCV004568512

NM_000352.6(ABCC8):c.3399+1G>A

SNV
Somatic

Chr11:17405493

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA379799996

rs_1554911369

3 SubmittersRCV000669304 RCV002245556 RCV002245555 RCV003472114

NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr)

SNV
Germline

Chr11:17410544

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903060

rs_761862121

9 SubmittersRCV000675026 RCV001102596 RCV001174391 RCV001107830 RCV001805796 RCV003465540 RCV005046914 RCV005623356

NM_000352.6(ABCC8):c.2222+1G>A

SNV
Germline

Chr11:17427048

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Transitory neonatal diabetes mellitus
Condition: not provided
Type 2 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

Criteria Provided
Conflicting Classifications

CA379813385

rs_1554923999

5 SubmittersRCV000670459 RCV002251508 RCV001036502 RCV003459616 RCV002251507 RCV005046888

NM_000352.6(ABCC8):c.2180T>G (p.Leu727Arg)

SNV
Germline

Chr11:17427091

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Transitory neonatal diabetes mellitus
Condition: not provided
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA379813577

rs_1554924079

3 SubmittersRCV000669371 RCV002251506 RCV002531225 RCV002251505

NM_000352.6(ABCC8):c.2116+1G>T

SNV
Germline

Chr11:17427866

Pathogenic/Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA379814664

rs_1554924540

4 SubmittersRCV000672727 RCV001816679 RCV003465516

NM_000352.6(ABCC8):c.1508T>C (p.Leu503Pro)

SNV
Germline

Chr11:17442842

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Maturity onset diabetes mellitus in young
not specified
Transitory neonatal diabetes mellitus
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
Conflicting Classifications

CA379766570

rs_1554933168

5 SubmittersRCV000665950 RCV002267001 RCV004702280 RCV002267002 RCV005049635 RCV003459574

NM_000352.6(ABCC8):c.1177-1G>A

SNV
Germline

Chr11:17448672

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Maturity onset diabetes mellitus in young
Condition: not provided
Transitory neonatal diabetes mellitus
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

CA379768836

rs_1167993548

4 SubmittersRCV000672967 RCV002254310 RCV003660827 RCV002254311 RCV005049650

NM_000352.6(ABCC8):c.145A>T (p.Ile49Phe)

SNV
Germline

Chr11:17476632

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Neonatal diabetes mellitus

Criteria Provided
Single Submitter

CA379789749

rs_1554949196

2 SubmittersRCV000671753 RCV002051878

NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)

SNV
Germline

Chr11:17406748

Conflicting classifications of pathogenicity

Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
not specified
Pulmonary arterial hypertension

Criteria Provided
Conflicting Classifications

CA5902886

rs_139524121

8 SubmittersRCV000710379 RCV000988490 RCV001104124 RCV001104429 RCV003226376 RCV005357959

NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter)

SNV
Germline

Chr11:17406943

Pathogenic

Condition: not provided
Maturity onset diabetes mellitus in young
Hyperinsulinemic hypoglycemia, familial, 1
Type 2 diabetes mellitus
Neonatal diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA5902922

rs_755259997

6 SubmittersRCV000710378 RCV002251514 RCV001174850 RCV003465648 RCV004556817

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

SNV
Germline

Chr11:17460571

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5903724

rs_769569410

11 SubmittersRCV000710397 RCV001825411 RCV003321726 RCV002255099 RCV002499280 RCV004782524 RCV004735763

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

SNV
Germline

Chr11:17461663

Pathogenic

Condition: not provided
Hereditary hyperinsulinism
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
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA218452045

rs_72559730

7 SubmittersRCV000710396 RCV001825410 RCV001192814 RCV002493256 RCV003465649

NM_000352.6(ABCC8):c.1243G>A (p.Gly415Arg)

SNV
Germline

Chr11:17448605

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA379768689

rs_1564955779

2 SubmittersRCV000761254 RCV002254315 RCV002254314

NM_000352.6(ABCC8):c.343A>G (p.Met115Val)

SNV
Germline

Chr11:17470170

Conflicting classifications of pathogenicity

Permanent neonatal diabetes mellitus
Condition: not provided
not specified
Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, permanent neonatal 3

Criteria Provided
Conflicting Classifications

CA5903905

rs_146695489

4 SubmittersRCV001105013 RCV001869139 RCV002265884 RCV003448345

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
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

CA5902755

rs_367850779

8 SubmittersRCV000779674 RCV001290313 RCV001388601 RCV001277187 RCV002501017 RCV003467307

NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)

SNV
Germline

Chr11:17410517

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA379805891

rs_1382448285

8 SubmittersRCV000780809 RCV001280725 RCV001830672 RCV003321734 RCV003467313 RCV005047042 RCV004545800

NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter)

SNV
Germline

Chr11:17461710

Pathogenic

Familial hyperinsulinism
Hyperinsulinemic hypoglycemia, familial, 1
Maturity onset diabetes mellitus in young
Condition: not provided
Type 2 diabetes mellitus
Neonatal diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA379778669

rs_1564977373

6 SubmittersRCV000780807 RCV000988492 RCV002253608 RCV001816835 RCV003467312 RCV004556820

NM_000352.6(ABCC8):c.1176+2T>C

SNV
Germline

Chr11:17453117

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5903665

rs_750586210

8 SubmittersRCV000780806 RCV001272243 RCV001037178 RCV003461054 RCV003321733 RCV004584412 RCV005047041

NM_000352.6(ABCC8):c.496C>T (p.Gln166Ter)

SNV
Germline

Chr11:17463521

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA379780030

rs_1591896370

2 SubmittersRCV000807622 RCV005049702

NM_000352.6(ABCC8):c.2921-1G>A

SNV
Germline

Chr11:17407130

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Hyperinsulinemic hypoglycemia, familial, 1
Neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA5902969

rs_772682942

3 SubmittersRCV000797020 RCV002251516 RCV003321738 RCV004556823

NM_000352.6(ABCC8):c.2958G>A (p.Ser986=)

SNV
Germline

Chr11:17407092

Conflicting classifications of pathogenicity

Diabetes mellitus, transient neonatal, 2
Condition: not provided
Permanent neonatal diabetes mellitus
Hereditary hyperinsulinism
Hyperinsulinemic hypoglycemia, familial, 1
not specified
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5902962

rs_58820146

8 SubmittersRCV001107176 RCV000871676 RCV001107177 RCV001277194 RCV001107178 RCV001817009 RCV002251524 RCV002251525 RCV003169172

NM_000352.6(ABCC8):c.4077G>A (p.Pro1359=)

SNV
Germline/somatic

Chr11:17396958

Conflicting classifications of pathogenicity

Condition: not provided
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA5902589

rs_547430068

3 SubmittersRCV000941649 RCV001103945 RCV001104229 RCV001104228 RCV002245767 RCV002245766

NM_000352.6(ABCC8):c.4412-4T>G

SNV
Germline/somatic

Chr11:17394403

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Conflicting Classifications

CA597664782

rs_1476016104

3 SubmittersRCV000941637 RCV002245764 RCV002245765 RCV003227877

NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=)

SNV
Germline

Chr11:17396919

Conflicting classifications of pathogenicity

Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
Condition: not provided
not specified
Hereditary hyperinsulinism
Hyperinsulinemic hypoglycemia, familial, 1
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
ABCC8-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5902581

rs_562715858

7 SubmittersRCV001103944 RCV001107565 RCV000976702 RCV001819151 RCV001832236 RCV001107566 RCV002274110 RCV002274109 RCV004543645 RCV004958342

NM_000352.6(ABCC8):c.3243G>A (p.Thr1081=)

SNV
Germline/somatic

Chr11:17406708

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Condition: not provided
Diabetes mellitus, transient neonatal, 2
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
not specified

Criteria Provided
Conflicting Classifications

CA473515827

rs_771538281

4 SubmittersRCV001104121 RCV001104122 RCV000975926 RCV001104123 RCV002250706 RCV002250705 RCV005408112

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

SNV
Germline

Chr11:17402733

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5902762

rs_139486832

7 SubmittersRCV000988489 RCV001819694 RCV002488079 RCV002549713

NM_000352.6(ABCC8):c.602C>T (p.Pro201Leu)

SNV
Germline

Chr11:17461803

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA379779280

rs_933815442

2 SubmittersRCV000988493 RCV002549714

NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His)

SNV
Germline/somatic

Chr11:17393004

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5902374

rs_143557848

7 SubmittersRCV000991473 RCV001819698 RCV001832302 RCV002245824 RCV002245823 RCV005047167

NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr)

SNV
Germline

Chr11:17397767

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Conflicting Classifications

CA379793539

rs_1266053680

4 SubmittersRCV000991472 RCV003329118 RCV004577347

NM_000352.6(ABCC8):c.4438A>G (p.Asn1480Asp)

SNV
Germline/somatic

Chr11:17394373

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA379783602

rs_1591705863

2 SubmittersRCV000995473 RCV002245828 RCV002245827

NM_000352.6(ABCC8):c.4325A>T (p.Glu1442Val)

SNV
Germline/somatic

Chr11:17395258

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5902491

rs_562680077

3 SubmittersRCV001030758 RCV002245834 RCV002245835 RCV003736960

NM_000352.6(ABCC8):c.2236G>T (p.Glu746Ter)

SNV
Germline

Chr11:17416949

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA379811263

rs_753296261

3 SubmittersRCV001051901 RCV003467766 RCV005049747

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

SNV
Germline

Chr11:17470131

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5903897

rs_781617345

6 SubmittersRCV001058712 RCV002497433 RCV001832528 RCV003462576 RCV003321793

NM_000352.6(ABCC8):c.4410C>T (p.Leu1470=)

SNV
Germline/somatic

Chr11:17395173

Conflicting classifications of pathogenicity

Permanent neonatal diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, transient neonatal, 2
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5902484

rs_369810811

4 SubmittersRCV001105777 RCV001105778 RCV001105779 RCV002245856 RCV002245855 RCV003405315 RCV005432581

NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=)

SNV
Germline/somatic

Chr11:17404607

Conflicting classifications of pathogenicity

Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Condition: not provided
Hereditary hyperinsulinism
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5902801

rs_540122589

5 SubmittersRCV001107095 RCV001107094 RCV001107096 RCV001435820 RCV001278394 RCV002245859 RCV002245860 RCV004960457

NM_000352.6(ABCC8):c.3076C>T (p.Leu1026=)

SNV
Germline

Chr11:17406974

Conflicting classifications of pathogenicity

Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Condition: not provided

Criteria Provided
Conflicting Classifications

CA473515872

rs_1354438772

2 SubmittersRCV001104430 RCV001104431 RCV001104432 RCV001487786

NM_000352.6(ABCC8):c.1643C>T (p.Thr548Met)

SNV
Germline

Chr11:17432232

Conflicting classifications of pathogenicity

Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5903500

rs_763794263

2 SubmittersRCV001104713 RCV001104715 RCV001104714 RCV002555031

NM_000352.6(ABCC8):c.1269C>A (p.Ile423=)

SNV
Germline

Chr11:17448579

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903634

rs_370169777

3 SubmittersRCV001102900 RCV001102902 RCV001102901 RCV001279196 RCV005049769

NM_000352.6(ABCC8):c.933G>C (p.Leu311=)

SNV
Germline

Chr11:17460566

Conflicting classifications of pathogenicity

Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5903722

rs_776498313

3 SubmittersRCV001105966 RCV001105965 RCV001105967 RCV002259549 RCV002287473 RCV003698828

NM_000352.6(ABCC8):c.723C>T (p.His241=)

SNV
Germline

Chr11:17461682

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903793

rs_147276708

4 SubmittersRCV001103003 RCV001103004 RCV001103002 RCV002253771 RCV002253772 RCV004659350 RCV002069716

NM_000352.6(ABCC8):c.621C>T (p.Pro207=)

SNV
Germline

Chr11:17461784

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5903811

rs_765043940

2 SubmittersRCV001103005 RCV001103006 RCV001103007 RCV001492855

NM_000352.6(ABCC8):c.507C>T (p.Phe169=)

SNV
Germline

Chr11:17463510

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA5903854

rs_755745806

3 SubmittersRCV001106071 RCV001108306 RCV001108307 RCV001419039 RCV002254199 RCV002254198

NM_000352.6(ABCC8):c.4545+9T>C

SNV
Germline

Chr11:17394257

Conflicting classifications of pathogenicity

Permanent neonatal diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, transient neonatal, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5902449

rs_775018351

3 SubmittersRCV001103832 RCV001103833 RCV001103834 RCV001856404

NM_000352.6(ABCC8):c.3650+4C>G

SNV
Germline

Chr11:17402657

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Hereditary hyperinsulinism
Condition: not provided
ABCC8-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA5902752

rs_374315114

5 SubmittersRCV001104036 RCV001104038 RCV001104037 RCV001277872 RCV002276625 RCV004538324 RCV005236603

NM_000352.6(ABCC8):c.1924-9C>T

SNV
Germline

Chr11:17428414

Conflicting classifications of pathogenicity

Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA597904337

rs_1218098329

3 SubmittersRCV001108017 RCV001108015 RCV001108016 RCV002069765 RCV002267077 RCV002267076

NM_000352.6(ABCC8):c.1630+8C>T

SNV
Germline

Chr11:17442712

Conflicting classifications of pathogenicity

Diabetes mellitus, transient neonatal, 2
not specified
Permanent neonatal diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA5903511

rs_200053398

5 SubmittersRCV001104716 RCV001819811 RCV001104717 RCV001104718 RCV001417995 RCV002267075 RCV002267074

NM_000352.6(ABCC8):c.580-7C>A

SNV
Germline

Chr11:17461832

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, transient neonatal, 2
Transitory neonatal diabetes mellitus
Permanent neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5903823

rs_771196330

3 SubmittersRCV001104911 RCV001104912 RCV002254197 RCV001106070 RCV002254196 RCV002555034

NM_000352.6(ABCC8):c.2117-2A>T

SNV
Germline

Chr11:17427156

Pathogenic

Condition: not provided
Familial hyperinsulinism
Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
ABCC8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA379813843

rs_1476853180

6 SubmittersRCV001236937 RCV001290585 RCV004570600 RCV003321815 RCV004528430

NM_000352.6(ABCC8):c.2557G>A (p.Asp853Asn)

SNV
Germline

Chr11:17410653

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA379806753

rs_1954765607

2 SubmittersRCV001255854 RCV002251762 RCV002251564

NM_000352.6(ABCC8):c.2062T>G (p.Trp688Gly)

SNV
Unknown

Chr11:17427921

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA379814895

rs_1955658642

2 SubmittersRCV001262625 RCV002251567 RCV002251568

NM_000352.6(ABCC8):c.4104C>T (p.Ile1368=)

SNV
Germline/somatic

Chr11:17396931

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA473298438

rs_1345535328

4 SubmittersRCV001277866 RCV002245925 RCV002245926 RCV001411378 RCV005050317

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

Criteria Provided
Conflicting Classifications

CA5902623

rs_576340695

4 SubmittersRCV001277867 RCV002246152 RCV002246151 RCV002499466 RCV003738031

NM_000352.6(ABCC8):c.2209G>A (p.Val737Ile)

SNV
Germline

Chr11:17427062

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903270

rs_376206979

4 SubmittersRCV001278413 RCV002251584 RCV002251583 RCV001466630 RCV005040119

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

SNV
Germline

Chr11:17474921

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA473301935

rs_1323334420

4 SubmittersRCV001279208 RCV002254347 RCV002486054 RCV002254346 RCV002542919

NM_000352.6(ABCC8):c.2521C>T (p.Arg841Ter)

SNV
Germline

Chr11:17412701

Pathogenic

Familial hyperinsulinism
Neonatal diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA379807480

rs_1484689392

5 SubmittersRCV001290673 RCV004556837 RCV003321823 RCV001859230 RCV003469507

NM_000352.6(ABCC8):c.11C>T (p.Ala4Val)

SNV
Germline

Chr11:17476766

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
not specified

Criteria Provided
Conflicting Classifications

CA379790450

rs_2133738359

2 SubmittersRCV001353383 RCV004526116

NM_000352.6(ABCC8):c.4369G>A (p.Ala1457Thr)

SNV
Germline

Chr11:17395214

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA218407557

rs_72559717

3 SubmittersRCV001376163 RCV001820080

NM_000352.6(ABCC8):c.3000C>A (p.Cys1000Ter)

SNV
Germline

Chr11:17407050

Pathogenic/Likely pathogenic

Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1
Familial hyperinsulinism

Criteria Provided
Multiple Submitters
No Conflicts

CA5902947

rs_192863214

3 SubmittersRCV001388604 RCV003321835 RCV004801004

NM_000352.6(ABCC8):c.2113C>T (p.Arg705Ter)

SNV
Germline

Chr11:17427870

Pathogenic

Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA5903313

rs_751848086

3 SubmittersRCV001386536 RCV003321834

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
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Type 2 diabetes mellitus
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA379768482

rs_760062120

5 SubmittersRCV001383753 RCV001826165 RCV002499797 RCV003469700 RCV004797943

NM_000352.6(ABCC8):c.2751G>A (p.Gln917=)

SNV
Germline

Chr11:17408461

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903032

rs_769982482

2 SubmittersRCV001403954 RCV005040276

NM_000352.6(ABCC8):c.2403C>A (p.Val801=)

SNV
Germline

Chr11:17413466

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903146

rs_148863748

2 SubmittersRCV001411991 RCV005050377

NM_000352.6(ABCC8):c.2888A>G (p.Asp963Gly)

SNV
Germline

Chr11:17407386

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5902988

rs_538013271

3 SubmittersRCV001445815 RCV004698547 RCV005040286

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

CA13410946

rs_4148644

4 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
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

CA218429229

rs_4148632

3 SubmittersRCV001533282 RCV001533220 RCV001533221 RCV001533222 RCV001615250 RCV002285176 RCV002285177

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

SNV
Germline

Chr11:17414389

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA13568491

rs_4148631

4 SubmittersRCV001533223 RCV001533225 RCV001533226 RCV001533224 RCV001615251 RCV002285178 RCV002285179

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

SNV
Germline

Chr11:17414419

Conflicting classifications of pathogenicity

Diabetes mellitus, permanent neonatal 3
Leucine-induced hypoglycemia
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

CA13438220

rs_4148630

4 SubmittersRCV001533230 RCV001533227 RCV001533228 RCV001533229 RCV001655817 RCV002286529 RCV002286530

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

SNV
Germline

Chr11:17415389

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903240

rs_4148626

4 SubmittersRCV001533232 RCV001533234 RCV001533231 RCV001533233 RCV001707891 RCV002286531 RCV002286532

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

Criteria Provided
Conflicting Classifications

CA5902800

rs_759961510

4 SubmittersRCV001580619 RCV001580618 RCV002569104 RCV002266006 RCV002495927

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

SNV
Germline

Chr11:17448659

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903646

rs_199763382

4 SubmittersRCV001822202 RCV002503312 RCV002274217

NM_000352.6(ABCC8):c.4147G>A (p.Gly1383Arg)

SNV
Germline

Chr11:17395903

Likely pathogenic

Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA5902549

rs_748233295

2 SubmittersRCV001822847 RCV003321873

NM_000352.6(ABCC8):c.1183A>T (p.Ile395Phe)

SNV
Germline

Chr11:17448665

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903647

rs_542947894

4 SubmittersRCV001817637 RCV002545178 RCV005050414 RCV005432801

NM_000352.6(ABCC8):c.3290A>C (p.His1097Pro)

SNV
Germline

Chr11:17406661

Conflicting classifications of pathogenicity

Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA379801444

rs_1352191146

5 SubmittersRCV001817802 RCV003321874 RCV004526149 RCV005520569

NM_000352.6(ABCC8):c.313C>T (p.His105Tyr)

SNV
Germline

Chr11:17470200

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903909

rs_766068851

6 SubmittersRCV001817803 RCV005040401 RCV005361746

NM_000352.6(ABCC8):c.2473C>T (p.Arg825Trp)

SNV
Germline

Chr11:17413396

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5903132

rs_779736828

5 SubmittersRCV001817843 RCV005040402 RCV004690140

NM_000352.6(ABCC8):c.76T>A (p.Cys26Ser)

SNV
Germline

Chr11:17476701

Pathogenic/Likely pathogenic

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
Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA379790058

rs_1462559571

4 SubmittersRCV001817862 RCV001844417 RCV005040403 RCV003321875

NM_000352.6(ABCC8):c.50T>C (p.Val17Ala)

SNV
Germline

Chr11:17476727

Conflicting classifications of pathogenicity

Condition: not provided
Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Conflicting Classifications

CA5903995

rs_764950519

3 SubmittersRCV001817905 RCV003464152 RCV003321876

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

SNV
Germline

Chr11:17470175

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA379784330

rs_2133711315

5 SubmittersRCV003464153 RCV002503329 RCV005361747 RCV001817966

NM_000352.6(ABCC8):c.4153T>C (p.Ser1385Pro)

SNV
Germline

Chr11:17395897

Likely pathogenic

Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA379788192

rs_2133402479

2 SubmittersRCV001817985 RCV003388053

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

SNV
Germline

Chr11:17407121

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5902968

rs_568576108

4 SubmittersRCV001823662 RCV002503332 RCV002542743

NM_000352.6(ABCC8):c.4544C>T (p.Thr1515Met)

SNV
Germline

Chr11:17394267

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5902453

rs_769989185

5 SubmittersRCV002004428 RCV004699641 RCV002290835 RCV005042680

NM_000352.6(ABCC8):c.3988+2T>C

SNV
Germline

Chr11:17397191

Pathogenic/Likely pathogenic

Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1
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

CA5902627

rs_745349258

4 SubmittersRCV001953915 RCV003321888 RCV003471186 RCV005042602

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

SNV
Germline

Chr11:17476732

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA379790178

rs_758231286

4 SubmittersRCV004538586 RCV001910791 RCV003475146 RCV002490136

NM_000352.6(ABCC8):c.2291+1G>A

SNV
Germline

Chr11:17415303

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA379810693

rs_1160946320

2 SubmittersRCV001977147 RCV005050494

NM_000352.6(ABCC8):c.3551C>T (p.Ala1184Val)

SNV
Germline

Chr11:17404518

Conflicting classifications of pathogenicity

Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Conflicting Classifications

CA379797331

rs_137852675

4 SubmittersRCV002010847 RCV005412356

NM_000352.6(ABCC8):c.1577G>T (p.Arg526Leu)

SNV
Germline

Chr11:17442773

Conflicting classifications of pathogenicity

Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Conflicting Classifications

CA5903523

rs_144481621

2 SubmittersRCV002034893 RCV003321879

NM_000352.6(ABCC8):c.502C>T (p.Arg168Cys)

SNV
Germline

Chr11:17463515

Pathogenic/Likely pathogenic

Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1
Familial hyperinsulinism
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

CA5903857

rs_756823374

4 SubmittersRCV001951354 RCV003321889 RCV003479377 RCV005042606

NM_000352.6(ABCC8):c.2521C>G (p.Arg841Gly)

SNV
Germline

Chr11:17412701

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA379807481

rs_1484689392

3 SubmittersRCV001978196 RCV003317567 RCV005042650

NM_000352.6(ABCC8):c.1330C>T (p.Gln444Ter)

SNV
Germline

Chr11:17448518

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Familial hyperinsulinism
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379768487

rs_2133616750

3 SubmittersRCV002052037 RCV003388087 RCV003560873

NM_000352.6(ABCC8):c.2171T>C (p.Leu724Pro)

SNV
Germline

Chr11:17427100

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Conflicting Classifications

CA379813612

rs_1402090677

2 SubmittersRCV002052038

NM_000352.6(ABCC8):c.2694G>A (p.Trp898Ter)

SNV
Germline

Chr11:17410516

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

CA379805881

rs_2133460799

1 SubmittersRCV002052039

NM_000352.6(ABCC8):c.2270C>G (p.Thr757Arg)

SNV
Germline

Chr11:17415325

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903228

rs_757961130

5 SubmittersRCV002071454 RCV005042710 RCV004543692

NM_000352.6(ABCC8):c.291-5C>T

SNV
Germline

Chr11:17470227

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2573146165

rs_2133711631

2 SubmittersRCV002172817 RCV005042711

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

Criteria Provided
Conflicting Classifications

CA5903949

rs_764349043

6 SubmittersRCV002224395 RCV002487022 RCV004770424 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
Hyperinsulinemic hypoglycemia, familial, 1
Leucine-induced hypoglycemia
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, permanent neonatal 3
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA5902587

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

Criteria Provided
Conflicting Classifications

CA379776569

rs_1201126343

5 SubmittersRCV002251095 RCV002496184 RCV003403755 RCV005356069

NM_000352.6(ABCC8):c.693G>A (p.Trp231Ter)

SNV
Germline

Chr11:17461712

Pathogenic/Likely pathogenic

Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA379778678

rs_1957198348

2 SubmittersRCV003560894 RCV004577370

NM_000352.6(ABCC8):c.3753+1G>T

SNV
Germline

Chr11:17398338

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

CA379793875

rs_1554906786

1 SubmittersRCV004577372

NM_000352.6(ABCC8):c.2800C>T (p.Gln934Ter)

SNV
Germline

Chr11:17408412

Pathogenic

Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA379804896

rs_1265410646

3 SubmittersRCV003560929 RCV004577373 RCV003471312

NM_000352.6(ABCC8):c.4168G>C (p.Ala1390Pro)

SNV
Germline

Chr11:17395882

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

CA379788035

rs_2496452651

1 SubmittersRCV002306230

NM_000352.6(ABCC8):c.1040C>G (p.Ser347Ter)

SNV
Unknown

Chr11:17453255

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

CA379771354

rs_2496811011

1 SubmittersRCV004577378

NM_000352.6(ABCC8):c.3733A>T (p.Arg1245Ter)

SNV
Unknown

Chr11:17398359

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

CA379794069

rs_2496475095

1 SubmittersRCV002307878

NM_000352.6(ABCC8):c.2318C>A (p.Ser773Ter)

SNV
Unknown

Chr11:17414584

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

CA379809600

rs_1355146733

1 SubmittersRCV002308211

NM_000352.6(ABCC8):c.3919C>T (p.Gln1307Ter)

SNV
Unknown

Chr11:17397262

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

CA379792181

rs_2496465239

1 SubmittersRCV002308346

NM_000352.6(ABCC8):c.1945A>T (p.Lys649Ter)

SNV
Unknown

Chr11:17428384

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

CA379815387

rs_2496668620

1 SubmittersRCV002310351

NM_000352.6(ABCC8):c.1073T>A (p.Leu358Ter)

SNV
Unknown

Chr11:17453222

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

CA379771097

rs_2496810710

1 SubmittersRCV004577384

NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys)

SNV
Germline

Chr11:17460583

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903728

rs_751228166

5 SubmittersRCV002465967 RCV002571393 RCV003464565 RCV005042847

NM_000352.6(ABCC8):c.4532T>C (p.Ile1511Thr)

SNV
Germline

Chr11:17394279

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided

Criteria Provided
Single Submitter

CA379782757

rs_2133394768

2 SubmittersRCV003227081 RCV003062338

NM_000352.6(ABCC8):c.2694+1G>A

SNV
Germline

Chr11:17410515

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5903056

rs_774574576

3 SubmittersRCV003062341 RCV005045196 RCV003459723

NM_000352.6(ABCC8):c.2434G>A (p.Asp812Asn)

SNV
Germline

Chr11:17413435

Conflicting classifications of pathogenicity

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

CA5903139

rs_146916682

2 SubmittersRCV003062343 RCV005045197

NM_000352.6(ABCC8):c.1817+2T>C

SNV
Germline

Chr11:17430812

Pathogenic/Likely pathogenic

Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA5903450

rs_772723050

2 SubmittersRCV003062344 RCV003321968

NM_000352.6(ABCC8):c.19G>C (p.Gly7Arg)

SNV
Germline

Chr11:17476758

Likely pathogenic

Condition: not provided
Familial hyperinsulinism
ABCC8-related disorder
Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA218464119

rs_781059815

4 SubmittersRCV003058290 RCV003317639 RCV004529198 RCV003321969

NM_000352.6(ABCC8):c.1A>G (p.Met1Val)

SNV
Germline

Chr11:17476776

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA379790517

rs_2496931481

2 SubmittersRCV005045198 RCV003062345

NM_000352.6(ABCC8):c.4207A>G (p.Ile1403Val)

SNV
Germline

Chr11:17395710

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA218407992

rs_913334458

2 SubmittersRCV003078854 RCV005045267

NM_000352.6(ABCC8):c.1555C>T (p.Arg519Cys)

SNV
Germline

Chr11:17442795

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903533

rs_1057467571

2 SubmittersRCV003083380 RCV005045231

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

SNV
Germline

Chr11:17442719

Pathogenic/Likely pathogenic

Familial hyperinsulinism
Inborn genetic diseases
Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA5903513

rs_773306994

4 SubmittersRCV002510390 RCV002569434 RCV003464567 RCV003321952

NM_000352.6(ABCC8):c.4177C>T (p.Arg1393Cys)

SNV
Germline

Chr11:17395873

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5902548

rs_776610373

3 SubmittersRCV003112211 RCV003475528 RCV005047417

NM_000352.6(ABCC8):c.298G>A (p.Glu100Lys)

SNV
Germline

Chr11:17470215

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903914

rs_200687571

2 SubmittersRCV002636095 RCV005042934

NM_000352.6(ABCC8):c.1819G>A (p.Val607Met)

SNV
Germline

Chr11:17428669

Likely pathogenic

Condition: not provided
Maturity onset diabetes mellitus in young
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

CA5903419

rs_377405677

3 SubmittersRCV003151472 RCV005438173 RCV005047440

NM_000352.6(ABCC8):c.122T>C (p.Phe41Ser)

SNV
Germline

Chr11:17476655

Likely pathogenic

not specified
Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

CA379789885

rs_2496929792

2 SubmittersRCV003151531 RCV004786882

NM_000352.6(ABCC8):c.3551C>A (p.Ala1184Glu)

SNV
Germline

Chr11:17404518

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

CA218417179

rs_137852675

1 SubmittersRCV003322255

NM_000352.6(ABCC8):c.4259G>A (p.Arg1420His)

SNV
Germline

Chr11:17395658

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA379786666

rs_1272388614

4 SubmittersRCV003322256 RCV003466058 RCV005047525 RCV005102900

NM_000352.6(ABCC8):c.4114C>T (p.Gln1372Ter)

SNV
Germline

Chr11:17396921

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

CA5902582

rs_530152803

1 SubmittersRCV003322258

NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu)

SNV
Germline

Chr11:17396959

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5902590

rs_377686759

4 SubmittersRCV003322259 RCV005047526 RCV003561296 RCV003466059

NM_000352.6(ABCC8):c.3995C>A (p.Ser1332Ter)

SNV
Germline

Chr11:17397040

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

CA379791285

rs_552324811

1 SubmittersRCV003322260

NM_000352.6(ABCC8):c.3447T>A (p.Cys1149Ter)

SNV
Germline

Chr11:17404622

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

CA5902804

rs_764564256

1 SubmittersRCV003322262

NM_000352.6(ABCC8):c.3440T>G (p.Leu1147Arg)

SNV
Germline

Chr11:17404629

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
ABCC8-related disorder
Condition: not provided
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA379798436

rs_1262517518

5 SubmittersRCV003322263 RCV004736333 RCV004719319 RCV003466060

NM_000352.6(ABCC8):c.3163-1G>A

SNV
Germline

Chr11:17406789

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA5902895

rs_754232612

2 SubmittersRCV003322266 RCV003475560

NM_000352.6(ABCC8):c.2980G>T (p.Glu994Ter)

SNV
Germline

Chr11:17407070

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

CA379804085

rs_766921341

1 SubmittersRCV003322268

NM_000352.6(ABCC8):c.2151C>A (p.Cys717Ter)

SNV
Germline

Chr11:17427120

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

CA5903289

rs_776027296

1 SubmittersRCV003322271

NM_000352.6(ABCC8):c.4453C>T (p.Gln1485Ter)

SNV
Germline

Chr11:17394358

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

CA379783441

rs_1252605804

1 SubmittersRCV003322272

NM_000352.6(ABCC8):c.1290G>A (p.Trp430Ter)

SNV
Germline

Chr11:17448558

Pathogenic/Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5903624

rs_767500007

2 SubmittersRCV003322273 RCV004763649

NM_000352.6(ABCC8):c.148+1G>A

SNV
Germline

Chr11:17476628

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5903972

rs_766312766

2 SubmittersRCV003322277 RCV005047527

NM_000352.6(ABCC8):c.55C>T (p.Gln19Ter)

SNV
Germline

Chr11:17476722

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

CA379790127

rs_1407486337

1 SubmittersRCV003322281

NM_000352.6(ABCC8):c.4238C>T (p.Pro1413Leu)

SNV
Germline

Chr11:17395679

Pathogenic/Likely pathogenic

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA379786862

rs_1436692401

3 SubmittersRCV003463196 RCV005047597 RCV003553959

NM_000352.6(ABCC8):c.2497C>T (p.Gln833Ter)

SNV
Germline

Chr11:17412725

Pathogenic/Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA379807620

rs_2496572258

2 SubmittersRCV004596587 RCV003476601

NM_000352.6(ABCC8):c.4661G>T (p.Gly1554Val)

SNV
Germline

Chr11:17393076

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5902387

rs_760494159

2 SubmittersRCV003693258 RCV005047758

NM_000352.6(ABCC8):c.3867+1G>A

SNV
Germline

Chr11:17397683

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA379792969

rs_2496469312

2 SubmittersRCV003702193 RCV005047774

NM_000352.6(ABCC8):c.1577G>A (p.Arg526His)

SNV
Germline

Chr11:17442773

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903522

rs_144481621

3 SubmittersRCV003849048 RCV005412608 RCV005040562

NM_000352.6(ABCC8):c.4105G>A (p.Ala1369Thr)

SNV
Germline

Chr11:17396930

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5902584

rs_757110

2 SubmittersRCV003851783 RCV005051407

NM_000352.6(ABCC8):c.2470G>T (p.Glu824Ter)

SNV
Germline

Chr11:17413399

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2496577975

2 SubmittersRCV004576758 RCV005040700

NM_000352.6(ABCC8):c.2689G>T (p.Asp897Tyr)

SNV
Germline

Chr11:17410521

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2496556981

2 SubmittersRCV005051454 RCV004587701

NM_000352.6(ABCC8):c.1468-14G>A

SNV
Germline

Chr11:17442896

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004701110 RCV005040756

NM_000352.6(ABCC8):c.2507G>A (p.Arg836Gln)

SNV
Germline

Chr11:17412715

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

1 SubmittersRCV004776322

NM_000352.6(ABCC8):c.3650+2T>G

SNV
Germline

Chr11:17402659

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005046544

NM_000352.6(ABCC8):c.3650+2T>C

SNV
Germline

Chr11:17402659

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005046546

NM_000352.6(ABCC8):c.3399G>T (p.Gln1133His)

SNV
Germline

Chr11:17405494

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005046551

NM_000352.6(ABCC8):c.3261G>A (p.Trp1087Ter)

SNV
Germline

Chr11:17406690

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005046556

NM_000352.6(ABCC8):c.3162+1G>A

SNV
Germline

Chr11:17406887

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005046560

NM_000352.6(ABCC8):c.3009C>G (p.Tyr1003Ter)

SNV
Germline

Chr11:17407041

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005050065

NM_000352.6(ABCC8):c.2917G>T (p.Glu973Ter)

SNV
Germline

Chr11:17407357

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005046569

NM_000352.6(ABCC8):c.1924-18C>A

SNV
Germline

Chr11:17428423

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005046592 RCV005105368

NM_000352.6(ABCC8):c.1468-2A>G

SNV
Germline

Chr11:17442884

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005046602

NM_000352.6(ABCC8):c.580-1G>C

SNV
Germline

Chr11:17461826

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005050081

NM_000352.6(ABCC8):c.25G>T (p.Glu9Ter)

SNV
Germline

Chr11:17476752

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005046632

NM_000352.6(ABCC8):c.4288C>T (p.Leu1430Phe)

SNV
Germline

Chr11:17395629

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005046527 RCV005105365

NM_000352.6(ABCC8):c.4174T>A (p.Phe1392Ile)

SNV
Germline

Chr11:17395876

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

1 SubmittersRCV005411161

NM_000352.6(ABCC8):c.2116+3A>G

SNV
Germline

Chr11:17427864