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 Hereditary hyperinsulinism Inborn genetic diseases Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus ABCC8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA233276	rs_151344623	18 SubmittersRCV000009656 RCV000144995 RCV000590487 RCV001277185 RCV001267446 RCV002467491 RCV003473069 RCV004532316
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		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		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 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	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 Hereditary hyperinsulinism Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA254631	rs_28938469	8 SubmittersRCV000009663 RCV001235181 RCV001831557 RCV003473070
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp)	SNV Germline/somatic	Chr11:17394334	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Hereditary hyperinsulinism Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2	Criteria Provided Conflicting Classifications	CA254633	rs_28936371	9 SubmittersRCV000009664 RCV000710390 RCV001831558 RCV003466844 RCV004549354
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	6 SubmittersRCV000009665 RCV000201911
NM_000352.6(ABCC8):c.4055G>A (p.Arg1352His)	SNV Germline	Chr11:17396980	Likely pathogenic	Leucine-induced hypoglycemia Condition: not provided Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA120108	rs_28936370	3 SubmittersRCV000009666 RCV001851770 RCV003466845
NM_000352.6(ABCC8):c.560T>A (p.Val187Asp)	SNV Germline	Chr11:17463457	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA254635	rs_137852672	6 SubmittersRCV000009667 RCV000723825 RCV003473071
NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu)	SNV Germline	Chr11:17470119	Pathogenic/Likely pathogenic	Diabetes mellitus, permanent neonatal 3 Permanent neonatal diabetes mellitus Condition: not provided Neonatal diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA120110	rs_80356637	4 SubmittersRCV000009670 RCV000020286 RCV001851772 RCV002051781
NM_000352.6(ABCC8):c.638T>G (p.Leu213Arg)	SNV Germline	Chr11:17461767	Pathogenic	Permanent neonatal diabetes mellitus Diabetes mellitus, permanent neonatal 3	No Assertion Criteria Provided	CA340866	rs_80356642	2 SubmittersRCV000009671 RCV001089457
NM_000352.6(ABCC8):c.4270A>G (p.Ile1424Val)	SNV Germline	Chr11:17395647	Pathogenic	Permanent neonatal diabetes mellitus Diabetes mellitus, permanent neonatal 3	No Assertion Criteria Provided	CA340868	rs_80356653	2 SubmittersRCV000009672 RCV001089458
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys)	SNV Germline	Chr11:17395915	Pathogenic/Likely pathogenic	Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Condition: not provided Monogenic diabetes ABCC8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA120112	rs_137852673	5 SubmittersRCV000009674 RCV000009673 RCV000502425 RCV001851773 RCV001249022 RCV004734508
NM_000352.6(ABCC8):c.1744C>G (p.Leu582Val)	SNV Germline	Chr11:17430887	Pathogenic	Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2	No Assertion Criteria Provided	CA120114	rs_137852674	1 SubmittersRCV000009676 RCV000009675
NM_000352.6(ABCC8):c.215A>G (p.Asn72Ser)	SNV Germline	Chr11:17474961	Likely pathogenic	Permanent neonatal diabetes mellitus Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus	Criteria Provided Single Submitter	CA340870	rs_80356634	3 SubmittersRCV000009677 RCV001089459 RCV003473072
NM_000352.6(ABCC8):c.1144G>A (p.Glu382Lys)	SNV Germline	Chr11:17453151	Pathogenic	Permanent neonatal diabetes mellitus Diabetes mellitus, permanent neonatal 3	No Assertion Criteria Provided	CA340872	rs_80356651	2 SubmittersRCV000009678 RCV001089460
NM_000352.6(ABCC8):c.257T>G (p.Val86Gly)	SNV Germline	Chr11:17474919	Pathogenic	Permanent neonatal diabetes mellitus Diabetes mellitus, permanent neonatal 3	No Assertion Criteria Provided	CA340877	rs_193929360	2 SubmittersRCV000009681 RCV001089462
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.631C>A (p.Gln211Lys)	SNV Germline	Chr11:17461774	Pathogenic	Permanent neonatal diabetes mellitus Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341693	rs_193929366	3 SubmittersRCV000020290 RCV003556056
NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro)	SNV Germline	Chr11:17461731	Pathogenic/Likely pathogenic	Permanent neonatal diabetes mellitus Neonatal diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA341695	rs_1048095	3 SubmittersRCV000020291 RCV002051791
NM_000352.6(ABCC8):c.-19A>G	SNV Germline	Chr11:17476795	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 not specified 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	CA213433	rs_193922394	5 SubmittersRCV000382247 RCV000242519 RCV000267816 RCV000325185 RCV001668134 RCV002254149 RCV002254148
NM_000352.6(ABCC8):c.1332+17G>C	SNV Germline	Chr11:17448499	Conflicting classifications of pathogenicity	Familial hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided	Criteria Provided Conflicting Classifications	CA260101	rs_193922395	3 SubmittersRCV000029249 RCV002251928 RCV002251927 RCV003727607
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=)	SNV Germline	Chr11:17442778	Conflicting classifications of pathogenicity	Neonatal diabetes mellitus 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 SubmittersRCV000029250 RCV000242823 RCV000295869 RCV000334556 RCV000402755 RCV000710373 RCV001826508 RCV002266903 RCV002266904
NM_000352.6(ABCC8):c.1606T>C (p.Phe536Leu)	SNV Germline	Chr11:17442744	Likely pathogenic	Neonatal diabetes mellitus	Criteria Provided Single Submitter	CA213438	rs_193922396	1 SubmittersRCV000029251
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys)	SNV Germline	Chr11:17442734	Conflicting classifications of pathogenicity	Maturity onset diabetes mellitus in young Diabetes mellitus, transient neonatal, 2 Transitory neonatal diabetes mellitus Condition: not provided	Criteria Provided Conflicting Classifications	CA213441	rs_193922397	4 SubmittersRCV002266905 RCV001823102 RCV002266906 RCV003137542
NM_000352.6(ABCC8):c.2117-12C>A	SNV Germline	Chr11:17427166	Conflicting classifications of pathogenicity	Neonatal diabetes mellitus not specified Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided	Criteria Provided Conflicting Classifications	CA213444	rs_193922398	4 SubmittersRCV000029253 RCV000251505 RCV002251430 RCV002251429 RCV003736543
NM_000352.6(ABCC8):c.3542T>G (p.Phe1181Cys)	SNV Germline/somatic	Chr11:17404527	Conflicting classifications of pathogenicity	Neonatal diabetes mellitus Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA213448	rs_193922399	2 SubmittersRCV000029256 RCV002243664 RCV002243663
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 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Hereditary hyperinsulinism Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Hyperinsulinemia	Criteria Provided Conflicting Classifications	CA171080	rs_1800853	10 SubmittersRCV000144997 RCV001533256 RCV001533258 RCV001533259 RCV001277183 RCV001523332 RCV001533257 RCV002226656
NM_000352.6(ABCC8):c.413-5G>A	SNV Germline	Chr11:17463609	Conflicting classifications of pathogenicity	Neonatal diabetes mellitus Condition: not provided Permanent neonatal diabetes mellitus Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 not specified Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA213453	rs_186946111	6 SubmittersRCV000029260 RCV000876485 RCV000763721 RCV001818179 RCV002254151 RCV002254150 RCV002513234
NM_000352.6(ABCC8):c.4136G>T (p.Arg1379Leu)	SNV Germline	Chr11:17395914	Pathogenic/Likely pathogenic	Neonatal diabetes mellitus Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA213457	rs_193922401	2 SubmittersRCV000029262 RCV001818180
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 Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA260102	rs_137852676	9 SubmittersRCV000009657 RCV000029263 RCV001390783 RCV001277179 RCV003321485 RCV003466873
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)	SNV Germline	Chr11:17395611	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Hereditary hyperinsulinism Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA260104	rs_193922402	8 SubmittersRCV000169593 RCV001818181 RCV002477010 RCV001826509 RCV003466874
NM_000352.6(ABCC8):c.4412-14C>T	SNV Germline/somatic	Chr11:17394413	Conflicting classifications of pathogenicity	Neonatal diabetes mellitus not specified Hereditary hyperinsulinism Maturity onset diabetes mellitus in young Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Transitory neonatal diabetes mellitus Condition: not provided ABCC8-related disorder	Criteria Provided Conflicting Classifications	CA213463	rs_193922404	7 SubmittersRCV000029266 RCV000517239 RCV001274287 RCV002243667 RCV002482906 RCV002243668 RCV003556088 RCV004541018
NM_000352.6(ABCC8):c.4451G>A (p.Gly1484Glu)	SNV Germline/somatic	Chr11:17394360	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	CA260107	rs_193922405	3 SubmittersRCV000029267 RCV002243669 RCV002243670 RCV004998106
NM_000352.6(ABCC8):c.4553T>G (p.Ile1518Ser)	SNV Germline/somatic	Chr11:17393752	Conflicting classifications of pathogenicity	Neonatal diabetes mellitus Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA213464	rs_193922406	2 SubmittersRCV000029268 RCV002243672 RCV002243671
NM_000352.6(ABCC8):c.4564G>A (p.Val1522Met)	SNV Germline	Chr11:17393741	Likely pathogenic	Neonatal diabetes mellitus	Criteria Provided Single Submitter	CA213467	rs_193922407	1 SubmittersRCV000029269
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	Criteria Provided Multiple Submitters No Conflicts		rs_980458021	4 SubmittersRCV000032668 RCV001211946 RCV003466885
NM_000352.6(ABCC8):c.4485C>T (p.Phe1495=)	SNV Germline/somatic	Chr11:17394326	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_267602801	2 SubmittersRCV001440751 RCV002243692 RCV002243693
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 Hereditary hyperinsulinism Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Condition: not provided Cerebral edema	Criteria Provided Conflicting Classifications	CA171042	rs_1799857	11 SubmittersRCV000144979 RCV000302706 RCV000402117 RCV000576376 RCV001272238 RCV001533248 RCV001533249 RCV001520136 RCV002226677
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=)	SNV Germline/somatic	Chr11:17428403	Conflicting classifications of pathogenicity	not specified Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 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	8 SubmittersRCV000144980 RCV000381876 RCV000347248 RCV000289964 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 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Hereditary hyperinsulinism Condition: not provided Diabetes mellitus, permanent neonatal 3 Leucine-induced hypoglycemia Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA171048	rs_1799858	10 SubmittersRCV000144981 RCV000286519 RCV000378609 RCV000576654 RCV001272235 RCV001512802 RCV001533247 RCV001533246 RCV002226678
NM_000352.6(ABCC8):c.207T>C (p.Pro69=)	SNV Germline/somatic	Chr11:17474969	Conflicting classifications of pathogenicity	not specified Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Condition: not provided Hereditary hyperinsulinism Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Hyperinsulinemia	Criteria Provided Conflicting Classifications	CA171051	rs_1048099	12 SubmittersRCV000144982 RCV000405380 RCV000314568 RCV000334473 RCV000576854 RCV001272249 RCV001533252 RCV001533269 RCV002226679
NM_000352.6(ABCC8):c.2538C>T (p.His846=)	SNV Germline/somatic	Chr11:17412684	Conflicting classifications of pathogenicity	not specified 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	Criteria Provided Conflicting Classifications	CA171062	rs_73423037	7 SubmittersRCV000144987 RCV000279197 RCV000338883 RCV000396687 RCV000865324 RCV002243798 RCV002243799
NM_000352.6(ABCC8):c.2556+22G>A	SNV Germline	Chr11:17412644	Conflicting classifications of pathogenicity	not specified Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA171065	rs_73423036	3 SubmittersRCV000144988 RCV001565995 RCV002251736 RCV002251735
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 Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA171066	rs_2106865	9 SubmittersRCV000144989 RCV000576868 RCV001533276 RCV001533277 RCV001533278 RCV001533279 RCV002251435 RCV002273961
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=)	SNV Germline/somatic	Chr11:17402699	Conflicting classifications of pathogenicity	not specified Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 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 RCV000377901 RCV000283418 RCV000337179 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 Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA171081	rs_739689	4 SubmittersRCV000144998 RCV001533260 RCV001533261 RCV001533262 RCV001533263 RCV001682843 RCV002243802 RCV002243803
NM_000352.6(ABCC8):c.4174T>G (p.Phe1392Val)	SNV Germline	Chr11:17395876	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA233277	rs_587783171	1 SubmittersRCV000144999
NM_000352.6(ABCC8):c.423G>A (p.Val141=)	SNV Germline	Chr11:17463594	Conflicting classifications of pathogenicity	not specified Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Hereditary hyperinsulinism Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus Permanent neonatal diabetes mellitus Condition: not provided	Criteria Provided Conflicting Classifications	CA171082	rs_116132921	9 SubmittersRCV000145000 RCV000370073 RCV000277787 RCV001272246 RCV002254155 RCV003105797 RCV000297828 RCV000710387
NM_000352.6(ABCC8):c.4431C>T (p.Gly1477=)	SNV Germline	Chr11:17394380	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Condition: not provided Inborn genetic diseases Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus not specified	Criteria Provided Conflicting Classifications	CA270977	rs_145673861	6 SubmittersRCV000394786 RCV000907727 RCV002326850 RCV000145001 RCV000294704 RCV001657829
NM_000352.6(ABCC8):c.4609-40A>G	SNV Germline/somatic	Chr11:17393168	Conflicting classifications of pathogenicity	not specified Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Condition: not provided Diabetes mellitus, permanent neonatal 3 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA171085	rs_1109591	4 SubmittersRCV000145002 RCV001533241 RCV001533240 RCV001533242 RCV001610440 RCV001533243 RCV002243805 RCV002243804
NM_000352.6(ABCC8):c.579+14C>T	SNV Germline/somatic	Chr11:17463424	Conflicting classifications of pathogenicity	not specified Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Condition: not provided Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA171092	rs_2301703	10 SubmittersRCV000145005 RCV000286439 RCV000340412 RCV000378527 RCV000576808 RCV001533250 RCV001533251 RCV002226684
NM_000352.6(ABCC8):c.823-8C>T	SNV Germline	Chr11:17460684	Conflicting classifications of pathogenicity	not specified Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus Condition: not provided Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 ABCC8-related disorder	Criteria Provided Conflicting Classifications	CA171093	rs_201000679	5 SubmittersRCV000145006 RCV002253240 RCV002273818 RCV002514783 RCV002467586 RCV004532639
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)	SNV Germline	Chr11:17393109	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Hereditary hyperinsulinism Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Type 2 diabetes mellitus ABCC8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274017	rs_72559713	8 SubmittersRCV000169185 RCV000800626 RCV001826866 RCV002492687 RCV003468836 RCV004535147
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn)	SNV Germline	Chr11:17395172	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Familial hyperinsulinism Hereditary hyperinsulinism Condition: not provided ABCC8-related disorder Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA274147	rs_72559716	8 SubmittersRCV000169299 RCV000586940 RCV001277177 RCV001385864 RCV004545752 RCV003468839
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 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	Criteria Provided Multiple Submitters No Conflicts	CA274108	rs_541269678	11 SubmittersRCV000169265 RCV000780808 RCV001040693 RCV002505223 RCV004567366
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)	SNV Germline	Chr11:17408415	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Diabetes mellitus, transient neonatal, 2 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	CA248480	rs_570388861	8 SubmittersRCV000169216 RCV000201910 RCV002492688 RCV003468837
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)	SNV Germline/somatic	Chr11:17412716	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Hereditary hyperinsulinism Type 2 diabetes mellitus Neonatal diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA248477	rs_72559722	14 SubmittersRCV000169276 RCV000201895 RCV000763234 RCV001277195 RCV003462267 RCV004555856
NM_000352.6(ABCC8):c.2116+2T>C	SNV Germline	Chr11:17427865	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Maturity onset diabetes mellitus in young Neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA274353	rs_786204676	4 SubmittersRCV000169482 RCV001376866 RCV002251436 RCV004556759
NM_000352.6(ABCC8):c.291-2A>G	SNV Germline	Chr11:17470224	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	Criteria Provided Conflicting Classifications	CA274374	rs_786204695	5 SubmittersRCV000169506 RCV000802759 RCV002254282 RCV002254156 RCV004567370
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)	SNV Germline	Chr11:17410600	Conflicting classifications of pathogenicity	Condition: not provided Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA242142	rs_111967655	8 SubmittersRCV000176259 RCV000296584 RCV000351650 RCV000406499 RCV001274297 RCV002251441 RCV002251440 RCV003165366
NM_000352.6(ABCC8):c.4482C>T (p.Ala1494=)	SNV Germline	Chr11:17394329	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA209674	rs_374853931	3 SubmittersRCV000195089 RCV000930273 RCV002327023
NM_000352.6(ABCC8):c.4314C>T (p.Asn1438=)	SNV Germline/somatic	Chr11:17395269	Conflicting classifications of pathogenicity	not specified Maturity onset diabetes mellitus in young Condition: not provided Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA207956	rs_752809991	3 SubmittersRCV000194056 RCV002243873 RCV001404323 RCV002243874
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	Criteria Provided Multiple Submitters No Conflicts	CA206064	rs_797045209	6 SubmittersRCV000192916 RCV001640282 RCV002051825 RCV002500586 RCV002517038 RCV003987437
NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=)	SNV Germline/somatic	Chr11:17405548	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary hyperinsulinism Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus ABCC8-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA208872	rs_186634115	6 SubmittersRCV000194603 RCV000928929 RCV001274294 RCV002250591 RCV002250592 RCV004530091 RCV004955323
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.1858C>T (p.Arg620Cys)	SNV Germline	Chr11:17428630	Conflicting classifications of pathogenicity	not specified Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Monogenic diabetes Hereditary hyperinsulinism	Criteria Provided Conflicting Classifications	CA206924	rs_58241708	12 SubmittersRCV000193433 RCV000671926 RCV000952127 RCV001174394 RCV001274301
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=)	SNV Germline	Chr11:17430924	Conflicting classifications of pathogenicity	not specified Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Condition: not provided Hereditary hyperinsulinism Diabetes mellitus, permanent neonatal 3 Maturity onset diabetes mellitus in young Inborn genetic diseases Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA205213	rs_147623093	12 SubmittersRCV000192409 RCV000299115 RCV000394777 RCV000356211 RCV000951012 RCV001272237 RCV001507324 RCV002266929 RCV002399710 RCV002266930
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 Inborn genetic diseases Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 ABCC8-related disorder	Criteria Provided Conflicting Classifications	CA207378	rs_117874766	10 SubmittersRCV000193705 RCV000360233 RCV000303097 RCV000396751 RCV001279195 RCV001336811 RCV001546216 RCV002514096 RCV004558438 RCV004734847
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)	SNV Germline	Chr11:17448596	Conflicting classifications of pathogenicity	not specified Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Hereditary hyperinsulinism Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Hypoglycemia ABCC8-related disorder	Criteria Provided Conflicting Classifications	CA205176	rs_67254669	15 SubmittersRCV000192390 RCV000710372 RCV000666629 RCV000763720 RCV001102903 RCV001102904 RCV001272242 RCV001449652 RCV001336810 RCV003491936 RCV004530090
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)	SNV Germline	Chr11:17453232	Conflicting classifications of pathogenicity	not specified Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Hereditary hyperinsulinism Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA208474	rs_145136257	13 SubmittersRCV000194352 RCV000279694 RCV000333629 RCV000662058 RCV000662059 RCV000710368 RCV001835716 RCV002517037
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	Criteria Provided Multiple Submitters No Conflicts	CA276976	rs_797045213	9 SubmittersRCV000192482 RCV000517846 RCV001833135 RCV003227708 RCV004567393
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)	SNV Germline	Chr11:17470182	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Familial hyperinsulinism Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA277230	rs_761749884	8 SubmittersRCV000193936 RCV001068772 RCV001804929 RCV003468881
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg)	SNV Germline	Chr11:17474937	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Conflicting Classifications	CA277044	rs_797045208	2 SubmittersRCV000192892
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)	SNV Germline	Chr11:17461722	Conflicting classifications of pathogenicity	Condition: not provided Familial hyperinsulinism Hyperinsulinemic hypoglycemia, familial, 1 Maturity onset diabetes mellitus in young Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA279580	rs_863225280	7 SubmittersRCV000201871 RCV000590369 RCV000984139 RCV002253285 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 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	CA5903742	rs_185040406	9 SubmittersRCV000369588 RCV000490279 RCV000671927 RCV001108196 RCV001108197 RCV001279202 RCV001818510 RCV004796105
NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp)	SNV Germline	Chr11:17402671	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Familial hyperinsulinism Type 2 diabetes mellitus Hereditary hyperinsulinism	Criteria Provided Multiple Submitters No Conflicts	CA5902756	rs_139964066	6 SubmittersRCV000666191 RCV000223959 RCV000588494 RCV003469115 RCV001828097
NM_000352.6(ABCC8):c.4545+13C>T	SNV Germline/somatic	Chr11:17394253	Conflicting classifications of pathogenicity	not specified Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA5902447	rs_78338172	5 SubmittersRCV000251638 RCV000710391 RCV002243934 RCV002243933
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=)	SNV Germline/somatic	Chr11:17394269	Conflicting classifications of pathogenicity	not specified Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Condition: not provided Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5902454	rs_113282901	10 SubmittersRCV000246698 RCV000291223 RCV000343814 RCV000378065 RCV000873407 RCV001277176 RCV002243932 RCV002243931 RCV002338796
NM_000352.6(ABCC8):c.3557+20G>C	SNV Germline/somatic	Chr11:17404492	Conflicting classifications of pathogenicity	not specified Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus Condition: not provided	Criteria Provided Conflicting Classifications	CA5902780	rs_764779784	3 SubmittersRCV000246101 RCV002243929 RCV002243930 RCV003718146
NM_000352.6(ABCC8):c.2427A>G (p.Pro809=)	SNV Germline	Chr11:17413442	Conflicting classifications of pathogenicity	not specified Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA10587109	rs_886038286	2 SubmittersRCV000251803 RCV002266939 RCV002266940
NM_000352.6(ABCC8):c.822+20C>T	SNV Germline	Chr11:17461563	Conflicting classifications of pathogenicity	not specified Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA5903768	rs_181998151	4 SubmittersRCV000243963 RCV002057345 RCV002253317 RCV002253316
NM_000352.6(ABCC8):c.354C>T (p.Val118=)	SNV Germline	Chr11:17470159	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 not specified Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Condition: not provided Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5903902	rs_137873871	10 SubmittersRCV000323715 RCV000254079 RCV000265731 RCV000377126 RCV000710380 RCV001272248 RCV002254159 RCV002254158 RCV002450766
NM_000352.6(ABCC8):c.-8G>T	SNV Germline	Chr11:17476784	Conflicting classifications of pathogenicity	not specified Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5904006	rs_200091822	6 SubmittersRCV000245897 RCV000264204 RCV000302860 RCV000359986 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	Conflicting classifications of pathogenicity	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Maturity onset diabetes mellitus in young Neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA10603180	rs_886041391	5 SubmittersRCV000334836 RCV000984137 RCV002274007 RCV004556774
NM_000352.6(ABCC8):c.279C>A (p.Ile93=)	SNV Germline	Chr11:17474897	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5903935	rs_550990673	5 SubmittersRCV000376852 RCV001276288 RCV004782340 RCV004955378
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys)	SNV Germline	Chr11:17397205	Conflicting classifications of pathogenicity	Condition: not provided Monogenic diabetes Hyperinsulinemic hypoglycemia, familial, 1 not specified 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	CA5902631	rs_200563930	6 SubmittersRCV000339446 RCV000664136 RCV001810444 RCV002282111 RCV002494880
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 Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5902392	rs_367862706	4 SubmittersRCV000259922 RCV000317437 RCV000357088 RCV000979519 RCV002244754 RCV002244753 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	Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 not specified Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5903065	rs_531684936	6 SubmittersRCV000290773 RCV000331715 RCV000386179 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 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided	Criteria Provided Conflicting Classifications	CA10630470	rs_886048052	3 SubmittersRCV000286566 RCV000340459 RCV000376418 RCV002251460 RCV002251459 RCV002520702
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 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA5903318	rs_150316347	3 SubmittersRCV000276185 RCV000314838 RCV000367366 RCV000871729 RCV002251462 RCV002251461
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 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided	Criteria Provided Conflicting Classifications	CA10630471	rs_886048055	3 SubmittersRCV000293105 RCV000330959 RCV000387749 RCV002266949 RCV002266948 RCV002056181
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	Criteria Provided Conflicting Classifications	CA5903864	rs_149872185	4 SubmittersRCV000312282 RCV000347325 RCV000396828 RCV000918189 RCV002254160 RCV002254521 RCV004544511
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 Permanent neonatal diabetes mellitus Condition: not provided	Criteria Provided Conflicting Classifications	CA5902382	rs_770317560	2 SubmittersRCV000275583 RCV000318584 RCV000367803 RCV002520698
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	Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Hereditary hyperinsulinism	Criteria Provided Conflicting Classifications	CA5902525	rs_373478721	5 SubmittersRCV000297318 RCV000354588 RCV000399523 RCV000975624 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	4 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	Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus 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 SubmittersRCV000340284 RCV000299357 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 Condition: not provided Maturity onset diabetes mellitus in young Hyperinsulinemic hypoglycemia, familial, 1 Inborn genetic diseases Transitory neonatal diabetes mellitus ABCC8-related disorder	Criteria Provided Conflicting Classifications	CA5902682	rs_377045545	6 SubmittersRCV000275432 RCV000310742 RCV000915714 RCV002246120 RCV000365441 RCV002356417 RCV002246121 RCV004537708
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 Condition: not provided not specified Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA5902784	rs_144207158	4 SubmittersRCV000273585 RCV000314454 RCV000368056 RCV000932525 RCV000502198 RCV002244769 RCV002244768
NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys)	SNV Germline	Chr11:17413447	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5903144	rs_202189540	2 SubmittersRCV000273521 RCV000310642 RCV000368130 RCV004021505
NM_000352.6(ABCC8):c.2041-12C>T	SNV Germline	Chr11:17427954	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 not specified Hereditary hyperinsulinism Condition: not provided ABCC8-related disorder	Criteria Provided Conflicting Classifications	CA5903321	rs_201419039	8 SubmittersRCV000260794 RCV000318223 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 Transitory neonatal diabetes mellitus Permanent neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided ABCC8-related disorder	Criteria Provided Conflicting Classifications	CA5903536	rs_761748692	6 SubmittersRCV000280602 RCV000337979 RCV002266951 RCV000396760 RCV002266950 RCV002520703 RCV004537710
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 Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young not specified	Criteria Provided Conflicting Classifications	CA5902604	rs_373737642	5 SubmittersRCV000279547 RCV000334553 RCV000397452 RCV000942711 RCV002246115 RCV002244761 RCV003323504
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 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA5902766	rs_544550330	3 SubmittersRCV000308839 RCV000344478 RCV000396524 RCV000883975 RCV002244767 RCV002244766
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 ABCC8-related disorder	Criteria Provided Conflicting Classifications	CA5902807	rs_371089976	6 SubmittersRCV000260467 RCV000315723 RCV000369085 RCV000941651 RCV002244771 RCV002244770 RCV002450850 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 Hereditary hyperinsulinism Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus Condition: not provided	Criteria Provided Conflicting Classifications	CA5902919	rs_367974472	5 SubmittersRCV000292832 RCV000352427 RCV000394844 RCV001278400 RCV002250621 RCV002251452 RCV002056180
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 Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA10637950	rs_886048051	3 SubmittersRCV000269894 RCV000324985 RCV000384255 RCV003708509 RCV002251456 RCV002251455
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 Maturity onset diabetes mellitus in young Condition: not provided Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA5903107	rs_140068774	4 SubmittersRCV000303371 RCV000339611 RCV000396695 RCV002244774 RCV002520701 RCV002244775
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 Condition: not provided Diabetes mellitus, transient neonatal, 2 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5903396	rs_146156937	8 SubmittersRCV000295518 RCV000352596 RCV000590129 RCV000404181 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 not specified Transitory neonatal diabetes mellitus Permanent neonatal diabetes mellitus Hereditary hyperinsulinism Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Maturity onset diabetes mellitus in young ABCC8-related disorder	Criteria Provided Conflicting Classifications	CA5903981	rs_199925058	7 SubmittersRCV000299216 RCV001820893 RCV002254165 RCV000356645 RCV001276289 RCV000394438 RCV000899129 RCV002254164 RCV004537712
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	Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Condition: not provided Hereditary hyperinsulinism not specified ABCC8-related disorder	Criteria Provided Conflicting Classifications	CA5902586	rs_138642224	8 SubmittersRCV000296366 RCV000349002 RCV000387248 RCV000710383 RCV001833441 RCV001820891 RCV004734966
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 Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5902636	rs_765708759	4 SubmittersRCV000269973 RCV000305055 RCV000359920 RCV000877067 RCV002246119 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 Inborn genetic diseases Maturity onset diabetes mellitus in young Condition: not provided Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA5902966	rs_780868010	4 SubmittersRCV000264215 RCV000323996 RCV000359855 RCV004021504 RCV002251453 RCV002522189 RCV002251454
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	Criteria Provided Conflicting Classifications	CA5903364	rs_146378237	5 SubmittersRCV000264134 RCV000321571 RCV000375215 RCV000876083 RCV001274299
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 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young ABCC8-related disorder	Criteria Provided Conflicting Classifications	CA5903915	rs_764107333	6 SubmittersRCV000291838 RCV000349251 RCV000383921 RCV000499468 RCV000710052 RCV002254163 RCV002254162 RCV004537711
NM_000352.5(ABCC8):c.*118A>G	SNV Germline/somatic	Chr11:17392873	Conflicting classifications of pathogenicity	Hyperinsulinism, Dominant/Recessive Permanent neonatal diabetes mellitus Transient Neonatal Diabetes, Dominant Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA10654473	rs_142441893	2 SubmittersRCV000264451 RCV000324321 RCV000373169 RCV002244842 RCV002244841
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 Condition: not provided Maturity onset diabetes mellitus in young Type 2 diabetes mellitus Neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA16041435	rs_1057516404	5 SubmittersRCV000409836 RCV001380090 RCV002244843 RCV003475943 RCV004556782
NM_000352.6(ABCC8):c.4120-1G>T	SNV Somatic	Chr11:17395931	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA16041436	rs_1057517406	2 SubmittersRCV000412164 RCV002244858 RCV002274022
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 Transitory neonatal diabetes mellitus Condition: not provided Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA16041439	rs_1057516718	5 SubmittersRCV000411306 RCV002244849 RCV002244850 RCV003558361 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	Criteria Provided Multiple Submitters No Conflicts	CA16041440	rs_1057516281	6 SubmittersRCV000410347 RCV000779675 RCV001828371 RCV001821133 RCV003463787
NM_000352.6(ABCC8):c.3650+2T>A	SNV Somatic	Chr11:17402659	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA16041441	rs_1057517274	2 SubmittersRCV000411391 RCV002244857 RCV002244856
NM_000352.6(ABCC8):c.3525C>G (p.Tyr1175Ter)	SNV Somatic	Chr11:17404544	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA16041443	rs_1057516439	2 SubmittersRCV000411703 RCV002244846 RCV002244845
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	Criteria Provided Multiple Submitters No Conflicts	CA16041444	rs_576684889	6 SubmittersRCV000409731 RCV001066925 RCV001277191 RCV001797710 RCV003470338
NM_000352.6(ABCC8):c.3108G>A (p.Trp1036Ter)	SNV Germline/somatic	Chr11:17406942	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	CA16041445	rs_1057516585	3 SubmittersRCV000411424 RCV002251469 RCV002251468 RCV001388603
NM_000352.6(ABCC8):c.2695-1G>C	SNV Germline	Chr11:17408518	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Familial hyperinsulinism Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus Condition: not provided Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA16041446	rs_1057517420	5 SubmittersRCV000409858 RCV000588002 RCV002251474 RCV002251475 RCV002523883 RCV003470354
NM_000352.6(ABCC8):c.2556+1G>A	SNV Germline	Chr11:17412665	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Conflicting Classifications	CA5903096	rs_749271190	2 SubmittersRCV000410235
NM_000352.6(ABCC8):c.2255+2T>C	SNV Germline	Chr11:17416928	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	Criteria Provided Conflicting Classifications	CA16041448	rs_1057516589	4 SubmittersRCV000411947 RCV001210957 RCV002251471 RCV002251470 RCV003475950
NM_000352.6(ABCC8):c.1671+1G>C	SNV Germline	Chr11:17432203	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Familial hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA16041451	rs_1057516509	4 SubmittersRCV000412268 RCV002307491 RCV002266959 RCV002266958 RCV003463791
NM_000352.6(ABCC8):c.1630+1G>T	SNV Germline	Chr11:17442719	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Hereditary hyperinsulinism Diabetes mellitus, permanent neonatal 3 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	CA5903512	rs_773306994	6 SubmittersRCV000411351 RCV000816954 RCV001272240 RCV002502422 RCV003475953
NM_000352.6(ABCC8):c.1468-2A>C	SNV Unknown	Chr11:17442884	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter	CA16041453	rs_1057516946	1 SubmittersRCV000411098
NM_000352.6(ABCC8):c.1467+2T>C	SNV Unknown	Chr11:17443176	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA16041454	rs_1057517128	2 SubmittersRCV000412284 RCV002252112 RCV002252111
NM_000352.6(ABCC8):c.692G>A (p.Trp231Ter)	SNV Unknown	Chr11:17461713	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter	CA16041456	rs_1057517139	1 SubmittersRCV000410965
NM_000352.6(ABCC8):c.413-2A>G	SNV Unknown	Chr11:17463606	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA16041459	rs_1057517015	2 SubmittersRCV000410546 RCV002254295 RCV002254166
NM_000352.6(ABCC8):c.220C>T (p.Arg74Trp)	SNV Germline	Chr11:17474956	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Hereditary hyperinsulinism Familial hyperinsulinism 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	CA5903947	rs_201682634	7 SubmittersRCV000409175 RCV001203709 RCV001828376 RCV002230219 RCV002502430 RCV003463804
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys)	SNV Germline	Chr11:17453228	Conflicting classifications of pathogenicity	Monogenic diabetes Condition: not provided Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Hereditary hyperinsulinism not specified	Criteria Provided Conflicting Classifications	CA5903679	rs_59852838	6 SubmittersRCV000445377 RCV000710369 RCV001104822 RCV001104821 RCV001104823 RCV001272244 RCV002265764
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn)	SNV Germline/somatic	Chr11:17393742	Conflicting classifications of pathogenicity	not specified Condition: not provided Monogenic diabetes Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus ABCC8-related disorder	Criteria Provided Conflicting Classifications	CA5902427	rs_142272833	8 SubmittersRCV000500617 RCV000514132 RCV001174390 RCV002244966 RCV002244967 RCV004735573
NM_000352.6(ABCC8):c.4524G>A (p.Thr1508=)	SNV Germline/somatic	Chr11:17394287	Conflicting classifications of pathogenicity	not specified Maturity onset diabetes mellitus in young Condition: not provided Inborn genetic diseases Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications	CA5902455	rs_553746345	4 SubmittersRCV000504463 RCV002244964 RCV001446350 RCV003159614 RCV002244965
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 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Condition: not provided Autosomal dominant hyperinsulinism due to SUR1 deficiency Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA218406864	rs_72559715	9 SubmittersRCV000503504 RCV000763232 RCV000710389 RCV001848864 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	4 SubmittersRCV000503846 RCV001280724
NM_000352.6(ABCC8):c.4265C>G (p.Ser1422Cys)	SNV Germline/somatic	Chr11:17395652	Conflicting classifications of pathogenicity	Permanent neonatal diabetes mellitus Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA379786606	rs_1554904936	2 SubmittersRCV000501443 RCV002244972 RCV002244971
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.3593C>T (p.Pro1198Leu)	SNV Germline	Chr11:17402718	Pathogenic/Likely pathogenic	Permanent neonatal diabetes mellitus Neonatal diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA379796687	rs_1554909277	2 SubmittersRCV000500160 RCV002051860
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 Condition: not provided Hereditary hyperinsulinism Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA5902971	rs_757171524	7 SubmittersRCV000502550 RCV001288417 RCV001834612 RCV003470624
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 Leucine-induced hypoglycemia Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Hereditary hyperinsulinism Condition: not provided	Criteria Provided Conflicting Classifications	CA5903282	rs_138687850	8 SubmittersRCV000501008 RCV000763719 RCV001102697 RCV001102698 RCV001102699 RCV001278414 RCV002056831
NM_000352.6(ABCC8):c.2143G>A (p.Val715Met)	SNV Germline	Chr11:17427128	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 not specified Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA379813722	rs_1554924142	3 SubmittersRCV000500528 RCV000518807 RCV002251482 RCV002251481
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter)	SNV Germline	Chr11:17430839	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Familial hyperinsulinism Hereditary hyperinsulinism Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus ABCC8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA5903454	rs_139328569	11 SubmittersRCV000500331 RCV001380990 RCV001797741 RCV001829422 RCV002496936 RCV003470626 RCV004535574
NM_000352.6(ABCC8):c.1486C>T (p.Leu496=)	SNV Germline	Chr11:17442864	Conflicting classifications of pathogenicity	not specified Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young ABCC8-related disorder	Criteria Provided Conflicting Classifications	CA5903551	rs_150956385	4 SubmittersRCV000504507 RCV000977798 RCV002266971 RCV002266970 RCV004541548
NM_000352.4(ABCC8):c.-544G>A	SNV Germline	Chr11:17477320	Conflicting classifications of pathogenicity	not specified Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA218464631	rs_184908312	2 SubmittersRCV000499749 RCV002253494 RCV002253493
NM_000352.6(ABCC8):c.4591A>C (p.Thr1531Pro)	SNV Germline/somatic	Chr11:17393714	Conflicting classifications of pathogenicity	not specified Diabetes mellitus, transient neonatal, 2 Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA218406302	rs_796891223	4 SubmittersRCV000516737 RCV000853271 RCV001829462 RCV002244992 RCV002244991
NM_000352.6(ABCC8):c.4198+18C>T	SNV Germline/somatic	Chr11:17395834	Conflicting classifications of pathogenicity	not specified Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA5902539	rs_373178978	4 SubmittersRCV000516803 RCV002060228 RCV002244990 RCV002244989
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His)	SNV Germline	Chr11:17395872	Conflicting classifications of pathogenicity	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Hereditary hyperinsulinism Type 2 diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA5902547	rs_769279368	9 SubmittersRCV000518373 RCV000671471 RCV001277180 RCV003470643 RCV003884589
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	not specified Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young ABCC8-related disorder	Criteria Provided Conflicting Classifications	CA5902678	rs_372198547	9 SubmittersRCV000517107 RCV000665490 RCV000876491 RCV001107658 RCV001107659 RCV002246125 RCV002246124 RCV004535667
NM_000352.6(ABCC8):c.3558-7G>A	SNV Germline	Chr11:17402760	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary hyperinsulinism	Criteria Provided Conflicting Classifications	CA218415591	rs_900191703	4 SubmittersRCV000518667 RCV000975680 RCV001274292
NM_000352.6(ABCC8):c.3000C>T (p.Cys1000=)	SNV Germline	Chr11:17407050	Conflicting classifications of pathogenicity	not specified Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5902946	rs_192863214	6 SubmittersRCV000518732 RCV000870881 RCV002251485 RCV002251484 RCV002438242
NM_000352.6(ABCC8):c.1924-10C>T	SNV Germline	Chr11:17428415	Conflicting classifications of pathogenicity	Condition: not provided not specified Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus Hereditary hyperinsulinism	Criteria Provided Conflicting Classifications	CA5903378	rs_200823913	4 SubmittersRCV000971151 RCV000516634 RCV002266980 RCV002266981 RCV001274300
NM_000352.6(ABCC8):c.1630+10C>T	SNV Germline	Chr11:17442710	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA5903510	rs_188075767	5 SubmittersRCV000517811 RCV000870664 RCV001274304 RCV002266977 RCV002266976
NM_000352.6(ABCC8):c.1177-56G>A	SNV Germline	Chr11:17448727	Conflicting classifications of pathogenicity	not specified Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus ABCC8-related disorder	Criteria Provided Conflicting Classifications	CA218447536	rs_183921963	4 SubmittersRCV000516695 RCV002060227 RCV002259981 RCV002253499 RCV004535666
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)	SNV Germline	Chr11:17476715	Pathogenic/Likely pathogenic	Familial hyperinsulinism Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Hereditary hyperinsulinism Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus ABCC8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA5903992	rs_200670692	8 SubmittersRCV000588969 RCV000666072 RCV001386147 RCV001829617 RCV002491164 RCV003459458 RCV004545790
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)	SNV Germline	Chr11:17474955	Pathogenic	Familial hyperinsulinism Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Leucine-induced hypoglycemia Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA5903946	rs_72559734	9 SubmittersRCV000586584 RCV000763236 RCV000710375 RCV000984140 RCV003459457
NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln)	SNV Unknown	Chr11:17430838	Likely pathogenic	12 conditions	Criteria Provided Single Submitter	CA379816909	rs_1344172059	1 SubmittersRCV000626669
NM_000352.6(ABCC8):c.1024G>T (p.Gly342Trp)	SNV Unknown	Chr11:17453271	Conflicting classifications of pathogenicity	12 conditions Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA379771442	rs_763028380	2 SubmittersRCV000626668 RCV002259543 RCV002253543
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		rs_1554904107	4 SubmittersRCV000666196 RCV002245084 RCV003151131 RCV002245083
NM_000352.6(ABCC8):c.4412-2A>G	SNV Somatic	Chr11:17394401	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1554904136	2 SubmittersRCV000673296 RCV002245573 RCV002245572
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		rs_67767715	3 SubmittersRCV000666053 RCV001104230 RCV001816668
NM_000352.6(ABCC8):c.3557+1G>A	SNV Germline	Chr11:17404511	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1554910610	2 SubmittersRCV000671355 RCV002531279
NM_000352.6(ABCC8):c.2222+15C>A	SNV Germline	Chr11:17427034	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal, 2 Leucine-induced hypoglycemia Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Condition: not provided	Criteria Provided Conflicting Classifications		rs_377174421	3 SubmittersRCV000674532 RCV002477510 RCV002531354
NM_000352.6(ABCC8):c.2041-1G>A	SNV Unknown	Chr11:17427943	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1554924630	2 SubmittersRCV000667383 RCV002251502 RCV002251501
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	Criteria Provided Multiple Submitters No Conflicts		rs_372307320	7 SubmittersRCV000674549 RCV001383752 RCV002509505 RCV003465538
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile)	SNV Germline	Chr11:17461719	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal, 2 Leucine-induced hypoglycemia Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Condition: not provided Type 2 diabetes mellitus not specified	Criteria Provided Conflicting Classifications		rs_768017509	5 SubmittersRCV000672033 RCV002507174 RCV002531303 RCV003459633 RCV003987660
NM_000352.6(ABCC8):c.579+2T>A	SNV Germline	Chr11:17463436	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus Type 2 diabetes mellitus Familial hyperinsulinism	Criteria Provided Conflicting Classifications		rs_1449198328	5 SubmittersRCV000671080 RCV002254171 RCV002254172 RCV003472134 RCV003994076
NM_000352.6(ABCC8):c.119T>G (p.Leu40Arg)	SNV Germline	Chr11:17476658	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1554949242	3 SubmittersRCV000673351 RCV001816681 RCV002253559 RCV002253560
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		rs_1439464815	4 SubmittersRCV000671370 RCV001766448 RCV003459624
NM_000352.6(ABCC8):c.4545+2T>G	SNV Somatic	Chr11:17394264	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1554904006	2 SubmittersRCV000671943 RCV002245566 RCV002245565
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His)	SNV Germline	Chr11:17395664	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Diabetes mellitus, transient neonatal, 2 Leucine-induced hypoglycemia Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts		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		rs_925231098	4 SubmittersRCV000669782 RCV000710385 RCV003465494
NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser)	SNV Germline	Chr11:17397788	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1185034563	4 SubmittersRCV000667689 RCV001756130 RCV003459587
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		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 Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1554906790	4 SubmittersRCV000672200 RCV001377217 RCV002245568 RCV002245567 RCV003465512
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)	SNV Germline/somatic	Chr11:17412700	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Maturity onset diabetes mellitus in young Type 2 diabetes mellitus Neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_547150342	6 SubmittersRCV000669690 RCV001861780 RCV002245557 RCV003472116 RCV004556812
NM_000352.6(ABCC8):c.2222+1G>T	SNV Germline	Chr11:17427048	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Familial hyperinsulinism	Criteria Provided Multiple Submitters No Conflicts		rs_1554923999	3 SubmittersRCV000668105 RCV000710376 RCV000780810
NM_000352.6(ABCC8):c.2116+1G>A	SNV Unknown	Chr11:17427866	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1554924540	2 SubmittersRCV000666201 RCV002251499 RCV002251500
NM_000352.6(ABCC8):c.1536C>G (p.Tyr512Ter)	SNV Unknown	Chr11:17442814	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Single Submitter		rs_765090096	1 SubmittersRCV000672131
NM_000352.6(ABCC8):c.1467+1G>T	SNV Germline	Chr11:17443177	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1554933415	3 SubmittersRCV000672183 RCV002252207 RCV002252208
NM_000352.6(ABCC8):c.917G>A (p.Arg306His)	SNV Germline	Chr11:17460582	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1409900082	2 SubmittersRCV000669163 RCV002531219
NM_000352.6(ABCC8):c.3868-1G>A	SNV Germline	Chr11:17397314	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Maturity onset diabetes mellitus in young Type 2 diabetes mellitus Neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_766431403	5 SubmittersRCV000667948 RCV001220536 RCV002246134 RCV003459592 RCV004556811
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		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		rs_775776658	6 SubmittersRCV000670385 RCV002531249 RCV003317330 RCV004026113 RCV004735737
NM_000352.6(ABCC8):c.2694+1G>C	SNV Unknown	Chr11:17410515	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_774574576	2 SubmittersRCV000667835 RCV002251504 RCV002251503
NM_000352.6(ABCC8):c.2475+19G>A	SNV Unknown	Chr11:17413375	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_373894772	2 SubmittersRCV000672364 RCV002251749 RCV002251748
NM_000352.6(ABCC8):c.2041-12C>A	SNV Germline	Chr11:17427954	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		rs_201419039	4 SubmittersRCV000670824 RCV002267009 RCV002060821 RCV002267008
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	Criteria Provided Multiple Submitters No Conflicts		rs_746714109	6 SubmittersRCV000669471 RCV001059343 RCV003465492 RCV003278982
NM_000352.6(ABCC8):c.1817+1G>T	SNV Somatic	Chr11:17430813	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1554926476	2 SubmittersRCV000665423 RCV002266999 RCV002267000
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys)	SNV Germline	Chr11:17442774	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Diabetes mellitus, transient neonatal, 2 Leucine-induced hypoglycemia Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Familial hyperinsulinism Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts		rs_751279984	6 SubmittersRCV000669267 RCV001383751 RCV002477497 RCV003230568 RCV003459609
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln)	SNV Germline	Chr11:17442866	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 not specified Condition: not provided Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1420601296	4 SubmittersRCV000670691 RCV003155273 RCV003140067 RCV003472129
NM_000352.6(ABCC8):c.1012-2A>G	SNV Unknown	Chr11:17453285	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1554938866	2 SubmittersRCV000666551 RCV002253551 RCV002253550
NM_000352.6(ABCC8):c.536A>G (p.Tyr179Cys)	SNV Germline	Chr11:17463481	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_919281813	2 SubmittersRCV000667913 RCV002530729
NM_000352.6(ABCC8):c.290+2T>C	SNV Unknown	Chr11:17474884	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Leucine-induced hypoglycemia Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus Permanent neonatal diabetes mellitus Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1554948310	3 SubmittersRCV000667474 RCV000763235 RCV002254308 RCV002254307
NM_000352.6(ABCC8):c.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		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 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1554948445	3 SubmittersRCV000666533 RCV002273822 RCV002254304 RCV004568501
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		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	Criteria Provided Multiple Submitters No Conflicts		rs_1411638309	3 SubmittersRCV000672393 RCV001379884
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		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		rs_1554906449	4 SubmittersRCV000667898 RCV002246133 RCV002246132 RCV002530728 RCV004568512
NM_000352.6(ABCC8):c.3754-2A>G	SNV Somatic	Chr11:17397799	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1554906450	2 SubmittersRCV000674702 RCV002246139 RCV002246138
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		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 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Monogenic diabetes not specified Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications		rs_761862121	7 SubmittersRCV000675026 RCV001107830 RCV001102596 RCV001174391 RCV001805796 RCV003465540
NM_000352.6(ABCC8):c.2222+1G>A	SNV Germline	Chr11:17427048	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	Criteria Provided Conflicting Classifications		rs_1554923999	4 SubmittersRCV000670459 RCV001036502 RCV002251508 RCV002251507 RCV003459616
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		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		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 Transitory neonatal diabetes mellitus not specified Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1554933168	4 SubmittersRCV000665950 RCV002267001 RCV002267002 RCV004702280 RCV003459574
NM_000352.6(ABCC8):c.1177-1G>A	SNV Germline	Chr11:17448672	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		rs_1167993548	3 SubmittersRCV000672967 RCV002254311 RCV002254310 RCV003660827
NM_000352.6(ABCC8):c.823-1G>A	SNV Unknown	Chr11:17460677	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1247430874	2 SubmittersRCV000669420 RCV002253553 RCV002253552
NM_000352.6(ABCC8):c.145A>T (p.Ile49Phe)	SNV Germline	Chr11:17476632	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1554949196	2 SubmittersRCV000671753 RCV002051878
NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln)	SNV Germline	Chr11:17393124	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Neonatal diabetes mellitus ABCC8-related disorder	Criteria Provided Conflicting Classifications		rs_1564869850	7 SubmittersRCV000710393 RCV002245621 RCV004556818 RCV004527754
NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His)	SNV Germline	Chr11:17395914	Pathogenic/Likely pathogenic	Condition: not provided Monogenic diabetes Maturity onset diabetes mellitus in young ABCC8-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_193922401	5 SubmittersRCV000710386 RCV001249023 RCV002307604 RCV004535759
NM_000352.6(ABCC8):c.4119+18A>G	SNV Germline/somatic	Chr11:17396898	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_75967811	5 SubmittersRCV000710384 RCV002245618 RCV002245617
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)	SNV Germline	Chr11:17406748	Conflicting classifications of pathogenicity	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus not specified	Criteria Provided Conflicting Classifications		rs_139524121	7 SubmittersRCV000710379 RCV000988490 RCV001104429 RCV001104124 RCV003226376
NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter)	SNV Germline	Chr11:17406943	Conflicting classifications of pathogenicity	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Maturity onset diabetes mellitus in young Type 2 diabetes mellitus Neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_755259997	6 SubmittersRCV000710378 RCV001174850 RCV002251514 RCV003465648 RCV004556817
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn)	SNV Germline	Chr11:17460571	Likely pathogenic	Condition: not provided Hereditary hyperinsulinism Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Leucine-induced hypoglycemia Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Familial hyperinsulinism ABCC8-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_769569410	10 SubmittersRCV000710397 RCV001825411 RCV002255099 RCV002499280 RCV003321726 RCV004782524 RCV004735763
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter)	SNV Germline	Chr11:17461663	Pathogenic/Likely pathogenic	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Hereditary hyperinsulinism Diabetes mellitus, transient neonatal, 2 Leucine-induced hypoglycemia Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts		rs_72559730	7 SubmittersRCV000710396 RCV001192814 RCV001825410 RCV002493256 RCV003465649
NM_000352.6(ABCC8):c.3346C>G (p.Pro1116Ala)	SNV Germline/somatic	Chr11:17405547	Conflicting classifications of pathogenicity	Familial hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1564890766	2 SubmittersRCV000714651 RCV002245626 RCV002245625
NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val)	SNV Germline	Chr11:17428614	Conflicting classifications of pathogenicity	Monogenic diabetes not specified Condition: not provided ABCC8-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_148709148	7 SubmittersRCV001174392 RCV001816804 RCV000732728 RCV004535858 RCV004027043
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		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 Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided not specified Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, permanent neonatal 3	Criteria Provided Conflicting Classifications		rs_146695489	4 SubmittersRCV001105013 RCV000778903 RCV001869139 RCV002265884 RCV003448345
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln)	SNV Germline	Chr11:17402670	Pathogenic/Likely pathogenic	Familial hyperinsulinism Hereditary hyperinsulinism Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts		rs_367850779	8 SubmittersRCV000779674 RCV001277187 RCV001290313 RCV001388601 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 ABCC8-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1382448285	7 SubmittersRCV000780809 RCV001280725 RCV001830672 RCV003321734 RCV003467313 RCV004545800
NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter)	SNV Germline	Chr11:17461710	Conflicting classifications of pathogenicity	Familial hyperinsulinism Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Maturity onset diabetes mellitus in young Type 2 diabetes mellitus Neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1564977373	6 SubmittersRCV000780807 RCV000988492 RCV001816835 RCV002253608 RCV003467312 RCV004556820
NM_000352.6(ABCC8):c.1176+2T>C	SNV Germline	Chr11:17453117	Pathogenic	Familial hyperinsulinism Condition: not provided Hereditary hyperinsulinism Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus See cases	Criteria Provided Multiple Submitters No Conflicts		rs_750586210	7 SubmittersRCV000780806 RCV001037178 RCV001272243 RCV003321733 RCV003461054 RCV004584412
NM_000352.6(ABCC8):c.496C>T (p.Gln166Ter)	SNV Germline	Chr11:17463521	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_1591896370	1 SubmittersRCV000807622
NM_000352.6(ABCC8):c.152G>A (p.Trp51Ter)	SNV Germline	Chr11:17475024	Conflicting classifications of pathogenicity	Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided	Criteria Provided Conflicting Classifications		rs_1591928988	2 SubmittersRCV002273827 RCV002254319 RCV000814291
NM_000352.6(ABCC8):c.3753+2C>T	SNV Germline/somatic	Chr11:17398337	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Familial hyperinsulinism	Criteria Provided Conflicting Classifications		rs_760196276	4 SubmittersRCV000810827 RCV001830770 RCV002246141 RCV002246140 RCV004702442
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		rs_772682942	3 SubmittersRCV000797020 RCV002251516 RCV003321738 RCV004556823
NM_000352.6(ABCC8):c.4360C>T (p.Leu1454=)	SNV Germline/somatic	Chr11:17395223	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_544133684	2 SubmittersRCV000873281 RCV002245718 RCV002245717
NM_000352.6(ABCC8):c.3111C>T (p.Thr1037=)	SNV Germline/somatic	Chr11:17406939	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Inborn genetic diseases ABCC8-related disorder	Criteria Provided Conflicting Classifications		rs_201662945	5 SubmittersRCV000877387 RCV001274295 RCV002251527 RCV002251526 RCV003169205 RCV004530869
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=)	SNV Germline	Chr11:17407092	Conflicting classifications of pathogenicity	Condition: not provided Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Hereditary hyperinsulinism not specified Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_58820146	8 SubmittersRCV000871676 RCV001107177 RCV001107176 RCV001107178 RCV001277194 RCV001817009 RCV002251525 RCV002251524 RCV003169172
NM_000352.6(ABCC8):c.102G>A (p.Val34=)	SNV Germline	Chr11:17476675	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications		rs_189746511	6 SubmittersRCV001253883 RCV001835350 RCV002254340 RCV002254339 RCV003166579 RCV003317468
NM_000352.6(ABCC8):c.1818-6G>A	SNV Germline	Chr11:17428676	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism not specified Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_368708177	5 SubmittersRCV000873971 RCV001274302 RCV001817028 RCV002267035 RCV002267034
NM_000352.6(ABCC8):c.291-8C>T	SNV Germline	Chr11:17470230	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_370095966	2 SubmittersRCV000877378 RCV002254179 RCV002254178
NM_000352.6(ABCC8):c.4703G>A (p.Arg1568Gln)	SNV Germline/somatic	Chr11:17393034	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Leucine-induced hypoglycemia	Criteria Provided Conflicting Classifications		rs_374743072	4 SubmittersRCV000945706 RCV001274284 RCV002245781 RCV002245780 RCV004698523
NM_000352.6(ABCC8):c.1368C>T (p.Leu456=)	SNV Germline	Chr11:17443277	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_775001123	3 SubmittersRCV000952428 RCV001276284 RCV002253710 RCV002253711
NM_000352.6(ABCC8):c.3039G>A (p.Ser1013=)	SNV Germline	Chr11:17407011	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_17846762	3 SubmittersRCV000907113 RCV001274296 RCV002251530 RCV002251529
NM_000352.6(ABCC8):c.1668C>T (p.Leu556=)	SNV Germline	Chr11:17432207	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1287759139	2 SubmittersRCV000901951 RCV002267037 RCV002267038
NM_000352.6(ABCC8):c.945C>T (p.Ala315=)	SNV Germline	Chr11:17460554	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary hyperinsulinism Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_138521721	6 SubmittersRCV000905546 RCV001818785 RCV001836006 RCV002259544 RCV002260106 RCV003372912
NM_000352.6(ABCC8):c.393C>T (p.Asn131=)	SNV Germline	Chr11:17470120	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_372524091	3 SubmittersRCV000901645 RCV002254529 RCV002254180 RCV004028517
NM_000352.6(ABCC8):c.234C>A (p.Thr78=)	SNV Germline	Chr11:17474942	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1591928554	2 SubmittersRCV000901808 RCV002254323 RCV002254322
NM_000352.6(ABCC8):c.4656G>A (p.Lys1552=)	SNV Germline/somatic	Chr11:17393081	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism Maturity onset diabetes mellitus in young Inborn genetic diseases Transitory neonatal diabetes mellitus not specified	Criteria Provided Conflicting Classifications		rs_145386421	5 SubmittersRCV000922224 RCV001274285 RCV002245738 RCV002332889 RCV002245739 RCV001818873
NM_000352.6(ABCC8):c.4227C>T (p.Ile1409=)	SNV Germline/somatic	Chr11:17395690	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Inborn genetic diseases ABCC8-related disorder	Criteria Provided Conflicting Classifications		rs_146584228	5 SubmittersRCV000919958 RCV001274289 RCV002245735 RCV002245734 RCV002332884 RCV004533538
NM_000352.6(ABCC8):c.4089C>T (p.His1363=)	SNV Germline/somatic	Chr11:17396946	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1211875269	2 SubmittersRCV000923346 RCV002245741 RCV002245740
NM_000352.6(ABCC8):c.3618C>T (p.Thr1206=)	SNV Germline/somatic	Chr11:17402693	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young ABCC8-related disorder	Criteria Provided Conflicting Classifications		rs_775134825	3 SubmittersRCV000916636 RCV002245733 RCV002245732 RCV004543439
NM_000352.6(ABCC8):c.3573G>A (p.Leu1191=)	SNV Germline/somatic	Chr11:17402738	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1038735802	2 SubmittersRCV000921187 RCV002245737 RCV002245736
NM_000352.6(ABCC8):c.3099G>A (p.Leu1033=)	SNV Germline	Chr11:17406951	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_200693100	3 SubmittersRCV000916588 RCV001836013 RCV002251531 RCV002274108
NM_000352.6(ABCC8):c.487G>A (p.Gly163Ser)	SNV Germline	Chr11:17463530	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young ABCC8-related disorder	Criteria Provided Conflicting Classifications		rs_574487898	4 SubmittersRCV000926623 RCV001276287 RCV002254182 RCV002254181 RCV004528322
NM_000352.6(ABCC8):c.822+9G>A	SNV Germline	Chr11:17461574	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1007498516	2 SubmittersRCV000918669 RCV002253689 RCV002260113
NM_000352.6(ABCC8):c.4653G>A (p.Leu1551=)	SNV Germline/somatic	Chr11:17393084	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_17846721	2 SubmittersRCV000929296 RCV002245743 RCV002245744
NM_000352.6(ABCC8):c.4581C>T (p.Phe1527=)	SNV Germline/somatic	Chr11:17393724	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_773042150	4 SubmittersRCV000944003 RCV001274286 RCV002245772 RCV002245771 RCV004029751
NM_000352.6(ABCC8):c.4464G>A (p.Leu1488=)	SNV Germline/somatic	Chr11:17394347	Conflicting classifications of pathogenicity	Condition: not provided not specified Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_374880588	4 SubmittersRCV000931586 RCV001818900 RCV002245752 RCV002245751 RCV003169353
NM_000352.6(ABCC8):c.4296C>T (p.Ser1432=)	SNV Germline/somatic	Chr11:17395621	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_752222583	3 SubmittersRCV000942332 RCV001274288 RCV002245768 RCV002245769
NM_000352.6(ABCC8):c.4140C>T (p.Thr1380=)	SNV Germline/somatic	Chr11:17395910	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Hereditary hyperinsulinism Inborn genetic diseases Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_574684578	4 SubmittersRCV000932845 RCV002245755 RCV001277182 RCV004029597 RCV002245754
NM_000352.6(ABCC8):c.4095T>C (p.Asn1365=)	SNV Germline/somatic	Chr11:17396940	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1207446214	2 SubmittersRCV000944956 RCV002245777 RCV002245778
NM_000352.6(ABCC8):c.4077G>A (p.Pro1359=)	SNV Germline/somatic	Chr11:17396958	Conflicting classifications of pathogenicity	Condition: not provided Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_547430068	3 SubmittersRCV000941649 RCV001104228 RCV001103945 RCV001104229 RCV002245767 RCV002245766
NM_000352.6(ABCC8):c.3960C>T (p.Thr1320=)	SNV Germline/somatic	Chr11:17397221	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism not specified Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_137868047	4 SubmittersRCV000944938 RCV001274290 RCV001818922 RCV002246149 RCV002246148
NM_000352.6(ABCC8):c.3228G>T (p.Val1076=)	SNV Germline/somatic	Chr11:17406723	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_368587840	2 SubmittersRCV000928377 RCV002250699 RCV002250700
NM_000352.6(ABCC8):c.3129G>A (p.Leu1043=)	SNV Germline/somatic	Chr11:17406921	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1591744434	2 SubmittersRCV000930743 RCV002250702 RCV002250701
NM_000352.6(ABCC8):c.2880C>T (p.Ser960=)	SNV Germline	Chr11:17407394	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_774603418	2 SubmittersRCV000932188 RCV002251533 RCV002251532
NM_000352.6(ABCC8):c.2235C>T (p.Ser745=)	SNV Germline	Chr11:17416950	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism	Criteria Provided Conflicting Classifications		rs_200708414	3 SubmittersRCV000930271 RCV001826948
NM_000352.6(ABCC8):c.2094C>T (p.Asn698=)	SNV Germline	Chr11:17427889	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_757172850	2 SubmittersRCV000941847 RCV002251535 RCV002251534
NM_000352.6(ABCC8):c.2022T>C (p.Ala674=)	SNV Germline	Chr11:17428307	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_371724951	2 SubmittersRCV000930474 RCV002267045 RCV002267044
NM_000352.6(ABCC8):c.1998G>C (p.Leu666=)	SNV Germline	Chr11:17428331	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1191652273	2 SubmittersRCV000928875 RCV002267040 RCV002267041
NM_000352.6(ABCC8):c.1980C>T (p.Thr660=)	SNV Germline	Chr11:17428349	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_766374930	2 SubmittersRCV000931580 RCV002267046 RCV002267047
NM_000352.6(ABCC8):c.1644G>T (p.Thr548=)	SNV Germline	Chr11:17432231	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_565996783	4 SubmittersRCV000928907 RCV001274303 RCV002267043 RCV002267042 RCV003307705
NM_000352.6(ABCC8):c.1512C>T (p.Arg504=)	SNV Germline	Chr11:17442838	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism not specified Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_148811815	4 SubmittersRCV000941561 RCV001274306 RCV001818914 RCV002267052 RCV002267051
NM_000352.6(ABCC8):c.1416T>C (p.Pro472=)	SNV Germline	Chr11:17443229	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1391155490	2 SubmittersRCV000930076 RCV002253696 RCV002253695
NM_000352.6(ABCC8):c.1095C>T (p.Ala365=)	SNV Germline	Chr11:17453200	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1256418853	3 SubmittersRCV000929723 RCV001276285 RCV002253694 RCV002290980
NM_000352.6(ABCC8):c.1002C>T (p.Phe334=)	SNV Germline	Chr11:17460497	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_763978514	2 SubmittersRCV000930796 RCV002259546 RCV002259545
NM_000352.6(ABCC8):c.987G>A (p.Lys329=)	SNV Germline	Chr11:17460512	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1216809389	2 SubmittersRCV000943897 RCV002253702 RCV002253703
NM_000352.6(ABCC8):c.813C>T (p.Asp271=)	SNV Germline	Chr11:17461592	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_569222899	2 SubmittersRCV000943032 RCV002253701 RCV002260116
NM_000352.6(ABCC8):c.735C>T (p.Ile245=)	SNV Germline	Chr11:17461670	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_535141079	2 SubmittersRCV000942194 RCV002253700 RCV002253699
NM_000352.6(ABCC8):c.546G>A (p.Leu182=)	SNV Germline	Chr11:17463471	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1591896019	2 SubmittersRCV000944869 RCV002254188 RCV002254187
NM_000352.6(ABCC8):c.513C>T (p.Leu171=)	SNV Germline	Chr11:17463504	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_767395738	2 SubmittersRCV000943598 RCV002254186 RCV002254185
NM_000352.6(ABCC8):c.510C>T (p.Cys170=)	SNV Germline	Chr11:17463507	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus not specified Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_752679178	3 SubmittersRCV000928347 RCV002254324 RCV001818891 RCV002254183
NM_000352.6(ABCC8):c.495G>A (p.Ser165=)	SNV Germline	Chr11:17463522	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_369136858	4 SubmittersRCV000934068 RCV001826970 RCV002254325 RCV002254184
NM_000352.6(ABCC8):c.3868-5C>T	SNV Germline/somatic	Chr11:17397318	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1591715618	2 SubmittersRCV000943838 RCV002246146 RCV002246147
NM_000352.6(ABCC8):c.3754-6C>T	SNV Germline/somatic	Chr11:17397803	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1591717230	2 SubmittersRCV000929224 RCV002246142 RCV002246143
NM_000352.6(ABCC8):c.1923+10C>T	SNV Germline	Chr11:17428555	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_775087598	2 SubmittersRCV000941559 RCV002267050 RCV002267049
NM_000352.6(ABCC8):c.4546-4G>A	SNV Germline/somatic	Chr11:17393763	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_770984647	2 SubmittersRCV000944862 RCV002245776 RCV002245775
NM_000352.6(ABCC8):c.4546-8C>T	SNV Germline/somatic	Chr11:17393767	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1273503048	2 SubmittersRCV000930895 RCV002245748 RCV002245749
NM_000352.6(ABCC8):c.1467+9C>T	SNV Germline	Chr11:17443169	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_774224706	2 SubmittersRCV000928712 RCV002253693 RCV002252268
NM_000352.6(ABCC8):c.4608+10C>T	SNV Germline/somatic	Chr11:17393687	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_754304889	2 SubmittersRCV000939780 RCV002245760 RCV002245761
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		rs_1476016104	3 SubmittersRCV000941637 RCV002245764 RCV002245765 RCV003227877
NM_000352.6(ABCC8):c.3753+10A>G	SNV Germline/somatic	Chr11:17398329	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1591718533	2 SubmittersRCV000935815 RCV002246145 RCV002246144
NM_000352.6(ABCC8):c.579+9G>A	SNV Germline	Chr11:17463429	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_776165640	2 SubmittersRCV000931377 RCV002287451 RCV002253697
NM_000352.6(ABCC8):c.2291+8G>A	SNV Germline	Chr11:17415296	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_748169568	2 SubmittersRCV000957477 RCV002251538 RCV002251537
NM_000352.6(ABCC8):c.4239G>A (p.Pro1413=)	SNV Germline/somatic	Chr11:17395678	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism Inborn genetic diseases Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_373478721	4 SubmittersRCV000978173 RCV001832256 RCV003279174 RCV002245802 RCV002245801
NM_000352.6(ABCC8):c.4194C>T (p.Phe1398=)	SNV Germline/somatic	Chr11:17395856	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_746249607	2 SubmittersRCV000977675 RCV002245798 RCV002245797
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=)	SNV Germline	Chr11:17396919	Conflicting classifications of pathogenicity	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Maturity onset diabetes mellitus in young not specified Hereditary hyperinsulinism Transitory neonatal diabetes mellitus ABCC8-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_562715858	7 SubmittersRCV000976702 RCV001107566 RCV001103944 RCV001107565 RCV002274109 RCV001819151 RCV001832236 RCV002274110 RCV004543645 RCV004958342
NM_000352.6(ABCC8):c.4062C>T (p.Asp1354=)	SNV Germline/somatic	Chr11:17396973	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1591714060	2 SubmittersRCV000981902 RCV002245811 RCV002245812
NM_000352.6(ABCC8):c.3996G>A (p.Ser1332=)	SNV Germline/somatic	Chr11:17397039	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_746146690	2 SubmittersRCV000980241 RCV002245810 RCV002245809
NM_000352.6(ABCC8):c.3513C>A (p.Ala1171=)	SNV Germline/somatic	Chr11:17404556	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_778961697	2 SubmittersRCV000983080 RCV002245815 RCV002245814
NM_000352.6(ABCC8):c.3439C>T (p.Leu1147=)	SNV Germline/somatic	Chr11:17404630	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_372257088	4 SubmittersRCV000978801 RCV001274293 RCV002245806 RCV002245805
NM_000352.6(ABCC8):c.3339G>A (p.Glu1113=)	SNV Germline/somatic	Chr11:17405554	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_757191246	2 SubmittersRCV000978790 RCV002250707 RCV002250708
NM_000352.6(ABCC8):c.3243G>A (p.Thr1081=)	SNV Germline/somatic	Chr11:17406708	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2 Condition: not provided Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_771538281	3 SubmittersRCV001104123 RCV000975926 RCV001104122 RCV001104121 RCV002250706 RCV002250705
NM_000352.6(ABCC8):c.3174C>T (p.Leu1058=)	SNV Germline/somatic	Chr11:17406777	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_778240883	2 SubmittersRCV000975697 RCV002250704 RCV002250703
NM_000352.6(ABCC8):c.2709G>A (p.Lys903=)	SNV Germline	Chr11:17408503	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1591749128	2 SubmittersRCV000976973 RCV002251539 RCV002251540
NM_000352.6(ABCC8):c.2178A>G (p.Ala726=)	SNV Germline	Chr11:17427093	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_747902103	4 SubmittersRCV000978833 RCV002251541 RCV001832262 RCV002251757 RCV002427416
NM_000352.6(ABCC8):c.2169T>C (p.Leu723=)	SNV Germline	Chr11:17427102	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1591794603	2 SubmittersRCV000975347 RCV002267053 RCV002251756
NM_000352.6(ABCC8):c.2163G>C (p.Ser721=)	SNV Germline	Chr11:17427108	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_201724038	2 SubmittersRCV000978251 RCV002271342 RCV002267056
NM_000352.6(ABCC8):c.1938G>A (p.Val646=)	SNV Germline	Chr11:17428391	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1591797830	2 SubmittersRCV000975540 RCV002267055 RCV002267054
NM_000352.6(ABCC8):c.1704G>A (p.Glu568=)	SNV Germline	Chr11:17430927	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_745652559	2 SubmittersRCV000978720 RCV002267057 RCV002267058
NM_000352.6(ABCC8):c.1548C>T (p.Asn516=)	SNV Germline	Chr11:17442802	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_776590557	2 SubmittersRCV000978839 RCV002267060 RCV002267059
NM_000352.6(ABCC8):c.1296C>T (p.Phe432=)	SNV Germline	Chr11:17448552	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1591845922	2 SubmittersRCV000983177 RCV002252277 RCV002252276
NM_000352.6(ABCC8):c.1071C>G (p.Val357=)	SNV Germline	Chr11:17453224	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_747552453	2 SubmittersRCV000976698 RCV002259547 RCV002259548
NM_000352.6(ABCC8):c.993C>T (p.Asn331=)	SNV Germline	Chr11:17460506	Conflicting classifications of pathogenicity	Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus Condition: not provided	Criteria Provided Conflicting Classifications		rs_752188418	2 SubmittersRCV002253755 RCV002253756 RCV000982707
NM_000352.6(ABCC8):c.951A>G (p.Pro317=)	SNV Germline	Chr11:17460548	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1591885314	2 SubmittersRCV000978269 RCV002253753 RCV002253754
NM_000352.6(ABCC8):c.552C>T (p.Leu184=)	SNV Germline	Chr11:17463465	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_151211613	2 SubmittersRCV000978587 RCV002254190 RCV002254189
NM_000352.6(ABCC8):c.405G>C (p.Leu135=)	SNV Germline	Chr11:17470108	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1591916038	2 SubmittersRCV000982386 RCV002254194 RCV002254193
NM_000352.6(ABCC8):c.165C>T (p.Ser55=)	SNV Germline	Chr11:17475011	Conflicting classifications of pathogenicity	Transitory neonatal diabetes mellitus Condition: not provided Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1591928903	2 SubmittersRCV002254327 RCV000982368 RCV002254326
NM_000352.6(ABCC8):c.108C>T (p.His36=)	SNV Germline	Chr11:17476669	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_757935183	3 SubmittersRCV000983735 RCV002253758 RCV002253757 RCV004030085
NM_000352.6(ABCC8):c.45C>T (p.Tyr15=)	SNV Germline	Chr11:17476732	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_758231286	2 SubmittersRCV000981425 RCV002254192 RCV002254191
NM_000352.6(ABCC8):c.4199-6A>G	SNV Germline/somatic	Chr11:17395724	Conflicting classifications of pathogenicity	Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided	Criteria Provided Conflicting Classifications		rs_1591710040	2 SubmittersRCV002245800 RCV002245799 RCV000978000
NM_000352.6(ABCC8):c.3650+9C>A	SNV Germline/somatic	Chr11:17402652	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1591730796	2 SubmittersRCV000978860 RCV002245808 RCV002245807
NM_000352.6(ABCC8):c.2391-6C>T	SNV Germline	Chr11:17413484	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young not specified Hereditary hyperinsulinism	Criteria Provided Conflicting Classifications		rs_556416038	4 SubmittersRCV000981142 RCV002251545 RCV002251544 RCV003396568 RCV001274298
NM_000352.6(ABCC8):c.1012-6C>T	SNV Germline	Chr11:17453289	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_764178736	2 SubmittersRCV000978200 RCV002253752 RCV002253751
NM_000352.6(ABCC8):c.1818-7C>T	SNV Germline	Chr11:17428677	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Hereditary hyperinsulinism	Criteria Provided Conflicting Classifications		rs_17846731	3 SubmittersRCV000983430 RCV002267062 RCV002267061 RCV001832296
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val)	SNV Germline	Chr11:17402733	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 not specified Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Condition: not provided	Criteria Provided Conflicting Classifications		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		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 Hereditary hyperinsulinism not specified Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_143557848	5 SubmittersRCV000991473 RCV001832302 RCV001819698 RCV002245824 RCV002245823
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		rs_1266053680	4 SubmittersRCV000991472 RCV003329118 RCV004577347
NM_000352.6(ABCC8):c.2146G>A (p.Gly716Ser)	SNV Germline	Chr11:17427125	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1591794677	2 SubmittersRCV000991470 RCV002267064 RCV002267063
NM_000352.6(ABCC8):c.1421A>G (p.Gln474Arg)	SNV Germline	Chr11:17443224	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young ABCC8-related disorder	Criteria Provided Conflicting Classifications		rs_1591834223	3 SubmittersRCV000991469 RCV002252290 RCV002253762 RCV004528325
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		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 Condition: not provided Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_562680077	3 SubmittersRCV001030758 RCV002245834 RCV003736960 RCV002245835
NM_000352.6(ABCC8):c.2236G>T (p.Glu746Ter)	SNV Germline	Chr11:17416949	Pathogenic/Likely pathogenic	Condition: not provided Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts		rs_753296261	2 SubmittersRCV001051901 RCV003467766
NM_000352.6(ABCC8):c.382G>A (p.Glu128Lys)	SNV Germline	Chr11:17470131	Pathogenic/Likely pathogenic	Condition: not provided Hereditary hyperinsulinism Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts		rs_781617345	6 SubmittersRCV001058712 RCV001832528 RCV002497433 RCV003321793 RCV003462576
NM_000352.6(ABCC8):c.2368G>T (p.Glu790Ter)	SNV Germline	Chr11:17414534	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_1317396512	1 SubmittersRCV001090230
NM_000352.6(ABCC8):c.4410C>T (p.Leu1470=)	SNV Germline/somatic	Chr11:17395173	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Permanent neonatal diabetes mellitus Condition: not provided	Criteria Provided Conflicting Classifications		rs_369810811	3 SubmittersRCV001105778 RCV001105779 RCV002245856 RCV002245855 RCV001105777 RCV003405315
NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=)	SNV Germline/somatic	Chr11:17404607	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Condition: not provided Transitory neonatal diabetes mellitus Hereditary hyperinsulinism Maturity onset diabetes mellitus in young Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_540122589	5 SubmittersRCV001107094 RCV001107095 RCV001107096 RCV001435820 RCV002245860 RCV001278394 RCV002245859 RCV004960457
NM_000352.6(ABCC8):c.3076C>T (p.Leu1026=)	SNV Germline	Chr11:17406974	Conflicting classifications of pathogenicity	Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1354438772	2 SubmittersRCV001104432 RCV001104431 RCV001104430 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		rs_763794263	2 SubmittersRCV001104713 RCV001104715 RCV001104714 RCV002555031
NM_000352.6(ABCC8):c.1269C>A (p.Ile423=)	SNV Germline	Chr11:17448579	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hereditary hyperinsulinism	Criteria Provided Conflicting Classifications		rs_370169777	2 SubmittersRCV001102901 RCV001102900 RCV001102902 RCV001279196
NM_000352.6(ABCC8):c.933G>C (p.Leu311=)	SNV Germline	Chr11:17460566	Conflicting classifications of pathogenicity	Permanent neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided	Criteria Provided Conflicting Classifications		rs_776498313	3 SubmittersRCV001105967 RCV001105966 RCV001105965 RCV002259549 RCV002287473 RCV003698828
NM_000352.6(ABCC8):c.723C>T (p.His241=)	SNV Germline	Chr11:17461682	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_147276708	4 SubmittersRCV001103002 RCV001103003 RCV001103004 RCV002069716 RCV002253772 RCV002253771 RCV004659350
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		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 Diabetes mellitus, transient neonatal, 2 Permanent neonatal diabetes mellitus Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_755745806	3 SubmittersRCV001106071 RCV001108307 RCV001108306 RCV001419039 RCV002254198 RCV002254199
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		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	Criteria Provided Conflicting Classifications		rs_374315114	4 SubmittersRCV001104036 RCV001104038 RCV001104037 RCV001277872 RCV002276625 RCV004538324
NM_000352.6(ABCC8):c.1924-9C>T	SNV Germline	Chr11:17428414	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		rs_1218098329	3 SubmittersRCV001108016 RCV001108017 RCV001108015 RCV002069765 RCV002267077 RCV002267076
NM_000352.6(ABCC8):c.1630+8C>T	SNV Germline	Chr11:17442712	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 not specified	Criteria Provided Conflicting Classifications		rs_200053398	4 SubmittersRCV001104717 RCV001104718 RCV001104716 RCV001417995 RCV002267074 RCV002267075 RCV001819811
NM_000352.6(ABCC8):c.580-7C>A	SNV Germline	Chr11:17461832	Conflicting classifications of pathogenicity	Permanent neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Maturity onset diabetes mellitus in young Condition: not provided Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_771196330	3 SubmittersRCV001106070 RCV001104911 RCV001104912 RCV002254196 RCV002555034 RCV002254197
NM_000352.6(ABCC8):c.2971C>T (p.Gln991Ter)	SNV Germline	Chr11:17407079	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1954577994	2 SubmittersRCV001206341 RCV002251559 RCV002251558
NM_000352.6(ABCC8):c.2764C>T (p.Gln922Ter)	SNV Germline	Chr11:17408448	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1954644972	2 SubmittersRCV001208911 RCV002251561 RCV002251562
NM_000352.6(ABCC8):c.35C>A (p.Ser12Ter)	SNV Germline	Chr11:17476742	Pathogenic	Condition: not provided Familial hyperinsulinism	Criteria Provided Multiple Submitters No Conflicts		rs_1283621955	2 SubmittersRCV001212753 RCV001779134
NM_000352.6(ABCC8):c.4199-2A>G	SNV Germline/somatic	Chr11:17395720	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1953885548	2 SubmittersRCV001204869 RCV002245871 RCV002245872
NM_000352.6(ABCC8):c.1536C>A (p.Tyr512Ter)	SNV Germline	Chr11:17442814	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_765090096	1 SubmittersRCV001233266
NM_000352.6(ABCC8):c.2057T>C (p.Phe686Ser)	SNV Germline	Chr11:17427926	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_1159625966	1 SubmittersRCV001243690
NM_000352.6(ABCC8):c.2117-2A>T	SNV Germline	Chr11:17427156	Pathogenic	Condition: not provided Familial hyperinsulinism Hyperinsulinemic hypoglycemia, familial, 1 ABCC8-related disorder Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts		rs_1476853180	6 SubmittersRCV001236937 RCV001290585 RCV003321815 RCV004528430 RCV004570600
NM_000352.6(ABCC8):c.3454G>A (p.Ala1152Thr)	SNV Germline/somatic	Chr11:17404615	Conflicting classifications of pathogenicity	Leucine-induced hypoglycemia Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1954422814	2 SubmittersRCV001253090 RCV002245904 RCV002245903
NM_000352.6(ABCC8):c.2557G>A (p.Asp853Asn)	SNV Germline	Chr11:17410653	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1954765607	2 SubmittersRCV001255854 RCV002251564 RCV002251762
NM_000352.6(ABCC8):c.2062T>G (p.Trp688Gly)	SNV Unknown	Chr11:17427921	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1955658642	2 SubmittersRCV001262625 RCV002251568 RCV002251567
NM_000352.6(ABCC8):c.4713C>T (p.Ser1571=)	SNV Germline/somatic	Chr11:17393024	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_747402972	3 SubmittersRCV001428015 RCV001277858 RCV002245914 RCV002245913
NM_000352.6(ABCC8):c.4119+10C>T	SNV Germline/somatic	Chr11:17396906	Conflicting classifications of pathogenicity	Hereditary hyperinsulinism Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus ABCC8-related disorder	Criteria Provided Conflicting Classifications		rs_201955628	4 SubmittersRCV001277865 RCV001450846 RCV002245923 RCV002245924 RCV004538553
NM_000352.6(ABCC8):c.4104C>T (p.Ile1368=)	SNV Germline/somatic	Chr11:17396931	Conflicting classifications of pathogenicity	Hereditary hyperinsulinism Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1345535328	3 SubmittersRCV001277866 RCV001411378 RCV002245925 RCV002245926
NM_000352.6(ABCC8):c.3988+19G>C	SNV Germline/somatic	Chr11:17397174	Conflicting classifications of pathogenicity	Hereditary hyperinsulinism Maturity onset diabetes mellitus in young 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 Condition: not provided	Criteria Provided Conflicting Classifications		rs_576340695	4 SubmittersRCV001277867 RCV002246151 RCV002246152 RCV002499466 RCV003738031
NM_000352.6(ABCC8):c.3984C>T (p.Leu1328=)	SNV Germline/somatic	Chr11:17397197	Conflicting classifications of pathogenicity	Hereditary hyperinsulinism Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications		rs_368419322	5 SubmittersRCV001277868 RCV001463636 RCV002246154 RCV002246153 RCV002375322 RCV004526100
NM_000352.6(ABCC8):c.3654T>C (p.Tyr1218=)	SNV Germline/somatic	Chr11:17398438	Conflicting classifications of pathogenicity	Hereditary hyperinsulinism Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_769968875	3 SubmittersRCV001277870 RCV001391926 RCV002245927 RCV002245928
NM_000352.6(ABCC8):c.3651-4C>G	SNV Germline/somatic	Chr11:17398445	Conflicting classifications of pathogenicity	Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided	Criteria Provided Conflicting Classifications		rs_1954058406	3 SubmittersRCV001277871 RCV002245930 RCV002245929 RCV002542885
NM_000352.6(ABCC8):c.3502T>C (p.Leu1168=)	SNV Germline/somatic	Chr11:17404567	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_565968675	3 SubmittersRCV001426811 RCV001278392 RCV002245937 RCV002245936
NM_000352.6(ABCC8):c.3399+12C>T	SNV Germline/somatic	Chr11:17405482	Conflicting classifications of pathogenicity	Hereditary hyperinsulinism Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_372561049	3 SubmittersRCV001278395 RCV003679056 RCV002245939 RCV002245938
NM_000352.6(ABCC8):c.3329+7G>A	SNV Germline/somatic	Chr11:17406615	Conflicting classifications of pathogenicity	Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Hereditary hyperinsulinism Condition: not provided	Criteria Provided Conflicting Classifications		rs_776313489	3 SubmittersRCV002250743 RCV002250742 RCV001278396 RCV001469794
NM_000352.6(ABCC8):c.2544C>T (p.Asn848=)	SNV Germline/somatic	Chr11:17412678	Conflicting classifications of pathogenicity	Hereditary hyperinsulinism Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_144200345	3 SubmittersRCV001278407 RCV001452421 RCV002250748 RCV002245940
NM_000352.6(ABCC8):c.2391-5G>A	SNV Germline	Chr11:17413483	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_370096884	3 SubmittersRCV001437239 RCV001278409 RCV002267089 RCV002267088
NM_000352.6(ABCC8):c.2259A>G (p.Pro753=)	SNV Germline	Chr11:17415336	Conflicting classifications of pathogenicity	Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Hereditary hyperinsulinism Condition: not provided	Criteria Provided Conflicting Classifications		rs_1955020359	3 SubmittersRCV002251580 RCV002251579 RCV001278411 RCV002542894
NM_000352.6(ABCC8):c.2222+12A>G	SNV Germline	Chr11:17427037	Conflicting classifications of pathogenicity	Hereditary hyperinsulinism Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided	Criteria Provided Conflicting Classifications		rs_534103042	3 SubmittersRCV001278412 RCV002251582 RCV002251581 RCV002542895
NM_000352.6(ABCC8):c.2209G>A (p.Val737Ile)	SNV Germline	Chr11:17427062	Conflicting classifications of pathogenicity	Hereditary hyperinsulinism Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_376206979	3 SubmittersRCV001278413 RCV001466630 RCV002251584 RCV002251583
NM_000352.6(ABCC8):c.1407A>C (p.Leu469=)	SNV Germline	Chr11:17443238	Conflicting classifications of pathogenicity	Hereditary hyperinsulinism Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_751643248	3 SubmittersRCV001279194 RCV001502516 RCV002253792 RCV002253791
NM_000352.6(ABCC8):c.942C>T (p.Phe314=)	SNV Germline	Chr11:17460557	Conflicting classifications of pathogenicity	Hereditary hyperinsulinism Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_768582290	3 SubmittersRCV001279199 RCV001499250 RCV002253793 RCV002254345
NM_000352.6(ABCC8):c.414C>T (p.Ala138=)	SNV Germline	Chr11:17463603	Conflicting classifications of pathogenicity	Condition: not provided Hereditary disease Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_372766371	3 SubmittersRCV001478315 RCV001824171 RCV002254210 RCV002254209
NM_000352.6(ABCC8):c.255G>A (p.Leu85=)	SNV Germline	Chr11:17474921	Conflicting classifications of pathogenicity	Hereditary hyperinsulinism Maturity onset diabetes mellitus in young 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 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1323334420	4 SubmittersRCV001279208 RCV002254346 RCV002254347 RCV002486054 RCV002542919
NM_000352.6(ABCC8):c.2521C>T (p.Arg841Ter)	SNV Germline	Chr11:17412701	Conflicting classifications of pathogenicity	Familial hyperinsulinism Condition: not provided Neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1484689392	5 SubmittersRCV001290673 RCV001859230 RCV004556837 RCV003321823 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		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		rs_72559717	3 SubmittersRCV001376163 RCV001820080
NM_000352.6(ABCC8):c.4411+2T>C	SNV Germline	Chr11:17395170	Likely pathogenic	Condition: not provided Hereditary hyperinsulinism	Criteria Provided Single Submitter		rs_1953843456	2 SubmittersRCV001376840 RCV001826122
NM_000352.6(ABCC8):c.4297G>A (p.Gly1433Ser)	SNV Germline	Chr11:17395620	Pathogenic/Likely pathogenic	Condition: not provided Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts		rs_781090024	3 SubmittersRCV001376864 RCV003473896
NM_000352.6(ABCC8):c.3651-1G>C	SNV Germline	Chr11:17398442	Likely pathogenic	Condition: not provided Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts		rs_768820409	2 SubmittersRCV001377334 RCV003462948
NM_000352.6(ABCC8):c.2475+1G>A	SNV Germline	Chr11:17413393	Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_772026262	2 SubmittersRCV001376865
NM_000352.6(ABCC8):c.148+2T>C	SNV Germline	Chr11:17476627	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hyperinsulinism Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1554949176	4 SubmittersRCV001378992 RCV001831363 RCV002253808 RCV002253809 RCV003462957
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		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		rs_751848086	3 SubmittersRCV001386536 RCV003321834
NM_000352.6(ABCC8):c.1617T>A (p.Tyr539Ter)	SNV Germline	Chr11:17442733	Conflicting classifications of pathogenicity	Condition: not provided Familial hyperinsulinism Maturity onset diabetes mellitus in young Type 2 diabetes mellitus Neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_1591832463	4 SubmittersRCV001380991 RCV001824961 RCV002267110 RCV003473930 RCV004556840
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 Leucine-induced hypoglycemia Type 2 diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, permanent neonatal 3 Type 2 diabetes mellitus See cases	Criteria Provided Multiple Submitters No Conflicts		rs_760062120	5 SubmittersRCV001383753 RCV001826165 RCV002499797 RCV003469700 RCV004797943
NM_000352.6(ABCC8):c.790C>T (p.Gln264Ter)	SNV Germline	Chr11:17461615	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_2133679133	1 SubmittersRCV001385575
NM_000352.6(ABCC8):c.428G>A (p.Trp143Ter)	SNV Germline	Chr11:17463589	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_1395990892	1 SubmittersRCV001386146
NM_000352.6(ABCC8):c.1269C>T (p.Ile423=)	SNV Germline	Chr11:17448579	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_370169777	2 SubmittersRCV001393853 RCV002254350 RCV002253811
NM_000352.6(ABCC8):c.4368C>T (p.Ile1456=)	SNV Germline	Chr11:17395215	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_193922403	2 SubmittersRCV001439630 RCV002286528 RCV002286527
NM_000352.6(ABCC8):c.3081G>A (p.Val1027=)	SNV Germline	Chr11:17406969	Conflicting classifications of pathogenicity	Transitory neonatal diabetes mellitus Condition: not provided Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_745860035	2 SubmittersRCV002251590 RCV001430630 RCV002251589
NM_000352.6(ABCC8):c.639G>A (p.Leu213=)	SNV Germline	Chr11:17461766	Conflicting classifications of pathogenicity	Condition: not provided Transitory neonatal diabetes mellitus Inborn genetic diseases Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_1483834388	3 SubmittersRCV001438824 RCV002253814 RCV002358981 RCV002254351
NM_000352.6(ABCC8):c.2291+7C>T	SNV Germline	Chr11:17415297	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_770152618	2 SubmittersRCV001470853 RCV002251591 RCV002251592
NM_000352.6(ABCC8):c.1767G>A (p.Pro589=)	SNV Germline	Chr11:17430864	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_550788491	3 SubmittersRCV001468175 RCV002405099 RCV002267115 RCV002267114
NM_000352.6(ABCC8):c.4119+93G>T	SNV Germline	Chr11:17396823	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		rs_4148644	4 SubmittersRCV001533265 RCV001533267 RCV001533264 RCV001533266 RCV001615252 RCV002285180 RCV002285181
NM_000352.6(ABCC8):c.2390+219T>C	SNV Germline	Chr11:17414293	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Leucine-induced hypoglycemia Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_4148632	3 SubmittersRCV001533220 RCV001533221 RCV001533222 RCV001533282 RCV001615250 RCV002285176 RCV002285177
NM_000352.6(ABCC8):c.2390+123C>T	SNV Germline	Chr11:17414389	Conflicting classifications of pathogenicity	Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 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		rs_4148631	4 SubmittersRCV001533226 RCV001533224 RCV001533223 RCV001533225 RCV001615251 RCV002285178 RCV002285179
NM_000352.6(ABCC8):c.2390+93C>T	SNV Germline	Chr11:17414419	Conflicting classifications of pathogenicity	Leucine-induced hypoglycemia Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Diabetes mellitus, permanent neonatal 3 Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_4148630	4 SubmittersRCV001533227 RCV001533228 RCV001533229 RCV001533230 RCV001655817 RCV002286529 RCV002286530
NM_000352.6(ABCC8):c.2256-50T>C	SNV Germline	Chr11:17415389	Conflicting classifications of pathogenicity	Diabetes mellitus, permanent neonatal 3 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Condition: not provided Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_4148626	4 SubmittersRCV001533234 RCV001533231 RCV001533233 RCV001533232 RCV001707891 RCV002286531 RCV002286532
NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile)	SNV Germline	Chr11:17404606	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, permanent neonatal 3 not specified Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Diabetes mellitus, transient neonatal, 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_759961510	4 SubmittersRCV001580618 RCV001580619 RCV002266006 RCV002495927 RCV002569104
NM_000352.6(ABCC8):c.4370C>T (p.Ala1457Val)	SNV Germline	Chr11:17395213	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_2133398429	1 SubmittersRCV001580985
NM_000352.6(ABCC8):c.985A>T (p.Lys329Ter)	SNV Germline	Chr11:17460514	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1957147183	2 SubmittersRCV001774809
NM_000352.6(ABCC8):c.494C>A (p.Ser165Ter)	SNV Germline	Chr11:17463523	Pathogenic/Likely pathogenic	Condition: not provided Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts		rs_758754046	3 SubmittersRCV001785195 RCV003475088
NM_000352.6(ABCC8):c.3961G>T (p.Glu1321Ter)	SNV Germline	Chr11:17397220	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_1953981445	1 SubmittersRCV001780621
NM_000352.6(ABCC8):c.1189A>C (p.Asn397His)	SNV Germline	Chr11:17448659	Conflicting classifications of pathogenicity	not specified Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Leucine-induced hypoglycemia	Criteria Provided Conflicting Classifications		rs_199763382	4 SubmittersRCV001822202 RCV002274217 RCV002503312
NM_000352.6(ABCC8):c.1332+9T>C	SNV Germline	Chr11:17448507	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_775059899	2 SubmittersRCV001822660 RCV002074363
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		rs_748233295	2 SubmittersRCV001822847 RCV003321873
NM_000352.6(ABCC8):c.4132G>A (p.Gly1378Ser)	SNV Germline	Chr11:17395918	Pathogenic/Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_925231098	3 SubmittersRCV001817632
NM_000352.6(ABCC8):c.1183A>T (p.Ile395Phe)	SNV Germline	Chr11:17448665	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_542947894	3 SubmittersRCV001817637 RCV002545178
NM_000352.6(ABCC8):c.970G>A (p.Val324Met)	SNV Germline	Chr11:17460529	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1328072266	3 SubmittersRCV001817713 RCV004040998
NM_000352.6(ABCC8):c.1773C>G (p.Phe591Leu)	SNV Germline	Chr11:17430858	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_72559726	1 SubmittersRCV001817730
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	Criteria Provided Conflicting Classifications		rs_1352191146	4 SubmittersRCV001817802 RCV003321874 RCV004526149
NM_000352.6(ABCC8):c.313C>T (p.His105Tyr)	SNV Germline	Chr11:17470200	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications		rs_766068851	3 SubmittersRCV001817803
NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys)	SNV Germline	Chr11:17395665	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_1468762603	3 SubmittersRCV001817825 RCV003155431
NM_000352.6(ABCC8):c.2473C>T (p.Arg825Trp)	SNV Germline	Chr11:17413396	Pathogenic	Condition: not provided Permanent neonatal diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts		rs_779736828	4 SubmittersRCV001817843 RCV004690140
NM_000352.6(ABCC8):c.4515C>G (p.Asp1505Glu)	SNV Germline	Chr11:17394296	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_751591418	1 SubmittersRCV001817845
NM_000352.6(ABCC8):c.76T>A (p.Cys26Ser)	SNV Germline	Chr11:17476701	Pathogenic/Likely pathogenic	Condition: not provided Familial hyperinsulinism Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Multiple Submitters No Conflicts		rs_1462559571	3 SubmittersRCV001817862 RCV001844417 RCV003321875
NM_000352.6(ABCC8):c.4547A>G (p.Glu1516Gly)	SNV Germline	Chr11:17393758	Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2133393241	2 SubmittersRCV001817867
NM_000352.6(ABCC8):c.625G>A (p.Asp209Asn)	SNV Germline	Chr11:17461780	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_2133680501	1 SubmittersRCV001817886
NM_000352.6(ABCC8):c.4608+1G>A	SNV Germline	Chr11:17393696	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_2133392952	1 SubmittersRCV001817887
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		rs_764950519	3 SubmittersRCV001817905 RCV003464152 RCV003321876
NM_000352.6(ABCC8):c.622G>A (p.Glu208Lys)	SNV Germline	Chr11:17461783	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_2133680513	1 SubmittersRCV001817917
NM_000352.6(ABCC8):c.4513G>A (p.Asp1505Asn)	SNV Germline	Chr11:17394298	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_2133394860	1 SubmittersRCV001817927
NM_000352.6(ABCC8):c.4225A>G (p.Ile1409Val)	SNV Germline	Chr11:17395692	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_776100468	2 SubmittersRCV001817940 RCV003401741
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)	SNV Germline	Chr11:17470175	Conflicting classifications of pathogenicity	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Leucine-induced hypoglycemia Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications		rs_2133711315	4 SubmittersRCV001817966 RCV002503329 RCV003464153
NM_000352.6(ABCC8):c.1011+1G>T	SNV Germline	Chr11:17460487	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_2133673996	1 SubmittersRCV001817973
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		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 Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Leucine-induced hypoglycemia	Criteria Provided Conflicting Classifications		rs_568576108	4 SubmittersRCV001823662 RCV002542743 RCV002503332
NM_000352.6(ABCC8):c.1924-13A>G	SNV Germline	Chr11:17428418	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_369865762	2 SubmittersRCV001844486 RCV003560872
NM_000352.6(ABCC8):c.4544C>T (p.Thr1515Met)	SNV Germline	Chr11:17394267	Pathogenic/Likely pathogenic	Condition: not provided Type 2 diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Multiple Submitters No Conflicts		rs_769989185	4 SubmittersRCV002004428 RCV002290835 RCV004699641
NM_000352.6(ABCC8):c.1369G>T (p.Gly457Ter)	SNV Germline	Chr11:17443276	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_771959876	1 SubmittersRCV001867603
NM_000352.6(ABCC8):c.1453C>T (p.Gln485Ter)	SNV Germline	Chr11:17443192	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_1956391008	1 SubmittersRCV001999786
NM_000352.6(ABCC8):c.503G>C (p.Arg168Pro)	SNV Germline	Chr11:17463514	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_1002070797	1 SubmittersRCV002021933
NM_000352.6(ABCC8):c.290+1G>A	SNV Germline	Chr11:17474885	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_2133728249	1 SubmittersRCV002021971
NM_000352.6(ABCC8):c.1003C>T (p.Gln335Ter)	SNV Germline	Chr11:17460496	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_2133674070	1 SubmittersRCV001941737
NM_000352.6(ABCC8):c.3737G>T (p.Trp1246Leu)	SNV Germline	Chr11:17398355	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_2133413622	1 SubmittersRCV001963974
NM_000352.6(ABCC8):c.4532T>A (p.Ile1511Asn)	SNV Germline	Chr11:17394279	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_2133394768	1 SubmittersRCV002029876
NM_000352.6(ABCC8):c.332G>A (p.Gly111Glu)	SNV Germline	Chr11:17470181	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_2133711374	1 SubmittersRCV002042485
NM_000352.6(ABCC8):c.2671C>T (p.Gln891Ter)	SNV Germline	Chr11:17410539	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_2133460957	1 SubmittersRCV001949250
NM_000352.6(ABCC8):c.3988+2T>C	SNV Germline	Chr11:17397191	Pathogenic	Condition: not provided Hyperinsulinemic hypoglycemia, familial, 1 Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts		rs_745349258	3 SubmittersRCV001953915 RCV003321888 RCV003471186
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter)	SNV Germline	Chr11:17476732	Pathogenic/Likely pathogenic	Condition: not provided Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia ABCC8-related disorder Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts		rs_758231286	4 SubmittersRCV001910791 RCV002490136 RCV004538586 RCV003475146
NM_000352.6(ABCC8):c.2291+1G>A	SNV Germline	Chr11:17415303	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_1160946320	1 SubmittersRCV001977147
NM_000352.6(ABCC8):c.3551C>T (p.Ala1184Val)	SNV Germline	Chr11:17404518	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications		rs_137852675	2 SubmittersRCV002010847
NM_000352.6(ABCC8):c.1598T>C (p.Leu533Pro)	SNV Germline	Chr11:17442752	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_1419269417	1 SubmittersRCV002045076
NM_000352.6(ABCC8):c.4478G>T (p.Arg1493Leu)	SNV Germline	Chr11:17394333	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_746480424	1 SubmittersRCV001977692
NM_000352.6(ABCC8):c.2266G>T (p.Glu756Ter)	SNV Germline	Chr11:17415329	Pathogenic	Condition: not provided Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts		rs_751826777	2 SubmittersRCV001878800 RCV003464191
NM_000352.6(ABCC8):c.4372C>G (p.Gln1458Glu)	SNV Germline	Chr11:17395211	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_2133398414	1 SubmittersRCV002004444
NM_000352.6(ABCC8):c.4411G>C (p.Asp1471His)	SNV Germline	Chr11:17395172	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_72559716	1 SubmittersRCV001994621
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		rs_144481621	2 SubmittersRCV002034893 RCV003321879
NM_000352.6(ABCC8):c.4059C>A (p.Tyr1353Ter)	SNV Germline	Chr11:17396976	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_374602183	1 SubmittersRCV001941862
NM_000352.6(ABCC8):c.863G>A (p.Trp288Ter)	SNV Germline	Chr11:17460636	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_2133675152	1 SubmittersRCV001957902
NM_000352.6(ABCC8):c.655C>T (p.Gln219Ter)	SNV Germline	Chr11:17461750	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_2133680142	1 SubmittersRCV001956413
NM_000352.6(ABCC8):c.696G>A (p.Trp232Ter)	SNV Germline	Chr11:17461709	Pathogenic/Likely pathogenic	Condition: not provided Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts		rs_2133679771	2 SubmittersRCV001899771 RCV003464178
NM_000352.6(ABCC8):c.2391-1G>A	SNV Germline	Chr11:17413479	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_2133473953	1 SubmittersRCV001951349
NM_000352.6(ABCC8):c.502C>T (p.Arg168Cys)	SNV Germline	Chr11:17463515	Pathogenic/Likely pathogenic	Condition: not provided Familial hyperinsulinism Hyperinsulinemic hypoglycemia, familial, 1	Criteria Provided Multiple Submitters No Conflicts		rs_756823374	3 SubmittersRCV001951354 RCV003479377 RCV003321889
NM_000352.6(ABCC8):c.4478G>C (p.Arg1493Pro)	SNV Germline	Chr11:17394333	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_746480424	1 SubmittersRCV002008751
NM_000352.6(ABCC8):c.579+2T>C	SNV Germline	Chr11:17463436	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_1449198328	1 SubmittersRCV002033509
NM_000352.6(ABCC8):c.2521C>G (p.Arg841Gly)	SNV Germline	Chr11:17412701	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_1484689392	2 SubmittersRCV001978196 RCV003317567
NM_000352.6(ABCC8):c.4258C>A (p.Arg1420Ser)	SNV Germline	Chr11:17395659	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_28938469	1 SubmittersRCV001956958
NM_000352.6(ABCC8):c.634G>T (p.Asp212Tyr)	SNV Germline	Chr11:17461771	Likely pathogenic	Neonatal diabetes mellitus	Criteria Provided Single Submitter		rs_2133680409	1 SubmittersRCV002052021
NM_000352.6(ABCC8):c.643G>A (p.Val215Ile)	SNV Germline	Chr11:17461762	Likely pathogenic	Neonatal diabetes mellitus	Criteria Provided Single Submitter		rs_2133680286	1 SubmittersRCV002052022
NM_000352.6(ABCC8):c.1608T>A (p.Phe536Leu)	SNV Germline	Chr11:17442742	Likely pathogenic	Neonatal diabetes mellitus	Criteria Provided Single Submitter		rs_753618932	1 SubmittersRCV002052023
NM_000352.6(ABCC8):c.3788C>T (p.Ala1263Val)	SNV Germline	Chr11:17397763	Conflicting classifications of pathogenicity	Neonatal diabetes mellitus Condition: not provided ABCC8-related disorder	Criteria Provided Conflicting Classifications		rs_772094360	3 SubmittersRCV002052025 RCV003332375 RCV004538754
NM_000352.6(ABCC8):c.4264T>A (p.Ser1422Thr)	SNV Germline	Chr11:17395653	Likely pathogenic	Neonatal diabetes mellitus	Criteria Provided Single Submitter		rs_2133401009	1 SubmittersRCV002052026
NM_000352.6(ABCC8):c.4610A>G (p.His1537Arg)	SNV Germline	Chr11:17393127	Likely pathogenic	Neonatal diabetes mellitus	Criteria Provided Single Submitter		rs_2133390317	1 SubmittersRCV002052027
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		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		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		rs_2133460799	1 SubmittersRCV002052039
NM_000352.6(ABCC8):c.2270C>G (p.Thr757Arg)	SNV Germline	Chr11:17415325	Conflicting classifications of pathogenicity	Condition: not provided ABCC8-related disorder	Criteria Provided Conflicting Classifications		rs_757961130	4 SubmittersRCV002071454 RCV004543692
NM_000352.6(ABCC8):c.954G>C (p.Leu318=)	SNV Germline	Chr11:17460545	Conflicting classifications of pathogenicity	Maturity onset diabetes mellitus in young Condition: not provided Transitory neonatal diabetes mellitus	Criteria Provided Conflicting Classifications		rs_771014822	2 SubmittersRCV002259556 RCV002149847 RCV002259557
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg)	SNV Germline	Chr11:17474968	Conflicting classifications of pathogenicity	Condition: not provided Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus ABCC8-related disorder not specified	Criteria Provided Conflicting Classifications		rs_764349043	6 SubmittersRCV002224395 RCV002487022 RCV004533977 RCV004770424
NM_000352.6(ABCC8):c.4307+13A>G	SNV Germline/somatic	Chr11:17395597	Conflicting classifications of pathogenicity	Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided	Criteria Provided Conflicting Classifications		rs_886048047	2 SubmittersRCV002244558 RCV002274249 RCV003738161
NM_000352.6(ABCC8):c.4090G>T (p.Val1364Phe)	SNV Somatic	Chr11:17396945	Conflicting classifications of pathogenicity	Transitory neonatal diabetes mellitus Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Diabetes mellitus, transient neonatal, 2 Type 2 diabetes mellitus Diabetes mellitus, permanent neonatal 3 Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_138642224	2 SubmittersRCV002245266 RCV002488625 RCV002274250
NM_000352.6(ABCC8):c.3681C>G (p.Leu1227=)	SNV Germline/somatic	Chr11:17398411	Conflicting classifications of pathogenicity	Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus Condition: not provided	Criteria Provided Conflicting Classifications		rs_370636988	2 SubmittersRCV002245498 RCV002245499 RCV003660915
NM_000352.6(ABCC8):c.3558-7G>T	SNV Somatic	Chr11:17402760	Conflicting classifications of pathogenicity	Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications		rs_900191703	1 SubmittersRCV002245500 RCV002274251
NM_000352.6(ABCC8):c.2556+1G>T	SNV Germline/somatic	Chr11:17412665	Conflicting classifications of pathogenicity	Maturity onset diabetes mellitus in young Transitory neonatal diabetes mellitus Condition: not provided	Criteria Provided Conflicting Classifications		rs_749271190	2 SubmittersRCV002245539 RCV002245540 RCV003718455
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg)	SNV Germline	Chr11:17460553	Conflicting classifications of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1 Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal, 2 Hyperinsulinemic hypoglycemia, familial, 1 Leucine-induced hypoglycemia Type 2 diabetes mellitus Familial hyperinsulinism	Criteria Provided Conflicting Classifications		rs_1201126343	4 SubmittersRCV002251095 RCV002496184 RCV003403755
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		rs_1957198348	2 SubmittersRCV003560894 RCV004577370
NM_000352.6(ABCC8):c.3087C>A (p.Ile1029=)	SNV Germline	Chr11:17406963	Conflicting classifications of pathogenicity	Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided	Criteria Provided Conflicting Classifications		rs_376413488	2 SubmittersRCV002251699 RCV002274253 RCV003738166
NM_000352.6(ABCC8):c.3018C>A (p.Ser1006=)	SNV Germline	Chr11:17407032	Conflicting classifications of pathogenicity	Transitory neonatal diabetes mellitus Maturity onset diabetes mellitus in young Condition: not provided	Criteria Provided Conflicting Classifications		rs_149279510	2 SubmittersRCV002251703 RCV002251702 RCV003094101

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
Hereditary hyperinsulinism
Inborn genetic diseases
Hyperinsulinemic hypoglycemia, familial, 1
Diabetes mellitus, permanent neonatal 3
Type 2 diabetes mellitus
ABCC8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA233276

rs_151344623

18 SubmittersRCV000009656 RCV000144995 RCV000590487 RCV001277185 RCV001267446 RCV002467491 RCV003473069 RCV004532316

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

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

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
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

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
Hereditary hyperinsulinism
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA254631

rs_28938469

8 SubmittersRCV000009663 RCV001235181 RCV001831557 RCV003473070

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

SNV
Germline/somatic

Chr11:17394334

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA254633

rs_28936371

9 SubmittersRCV000009664 RCV000710390 RCV001831558 RCV003466844 RCV004549354

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

6 SubmittersRCV000009665 RCV000201911

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

SNV
Germline

Chr11:17396980

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA120108

rs_28936370

3 SubmittersRCV000009666 RCV001851770 RCV003466845

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

SNV
Germline

Chr11:17463457

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA254635

rs_137852672

6 SubmittersRCV000009667 RCV000723825 RCV003473071

NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu)

SNV
Germline

Chr11:17470119

Pathogenic/Likely pathogenic

Diabetes mellitus, permanent neonatal 3
Permanent neonatal diabetes mellitus
Condition: not provided
Neonatal diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA120110

rs_80356637

4 SubmittersRCV000009670 RCV000020286 RCV001851772 RCV002051781

NM_000352.6(ABCC8):c.638T>G (p.Leu213Arg)

SNV
Germline

Chr11:17461767

Pathogenic

Permanent neonatal diabetes mellitus
Diabetes mellitus, permanent neonatal 3

No Assertion Criteria Provided

CA340866

rs_80356642

2 SubmittersRCV000009671 RCV001089457

NM_000352.6(ABCC8):c.4270A>G (p.Ile1424Val)

SNV
Germline

Chr11:17395647

Pathogenic

Permanent neonatal diabetes mellitus
Diabetes mellitus, permanent neonatal 3

No Assertion Criteria Provided

CA340868

rs_80356653

2 SubmittersRCV000009672 RCV001089458

NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys)

SNV
Germline

Chr11:17395915

Pathogenic/Likely pathogenic

Type 2 diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
Condition: not provided
Monogenic diabetes
ABCC8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA120112

rs_137852673

5 SubmittersRCV000009674 RCV000009673 RCV000502425 RCV001851773 RCV001249022 RCV004734508

NM_000352.6(ABCC8):c.1744C>G (p.Leu582Val)

SNV
Germline

Chr11:17430887

Pathogenic

Type 2 diabetes mellitus
Diabetes mellitus, transient neonatal, 2

No Assertion Criteria Provided

CA120114

rs_137852674

1 SubmittersRCV000009676 RCV000009675

NM_000352.6(ABCC8):c.215A>G (p.Asn72Ser)

SNV
Germline

Chr11:17474961

Likely pathogenic

Permanent neonatal diabetes mellitus
Diabetes mellitus, permanent neonatal 3
Type 2 diabetes mellitus

Criteria Provided
Single Submitter

CA340870

rs_80356634

3 SubmittersRCV000009677 RCV001089459 RCV003473072

NM_000352.6(ABCC8):c.1144G>A (p.Glu382Lys)

SNV
Germline

Chr11:17453151

Pathogenic

Permanent neonatal diabetes mellitus
Diabetes mellitus, permanent neonatal 3

No Assertion Criteria Provided

CA340872

rs_80356651

2 SubmittersRCV000009678 RCV001089460

NM_000352.6(ABCC8):c.257T>G (p.Val86Gly)

SNV
Germline

Chr11:17474919

Pathogenic

Permanent neonatal diabetes mellitus
Diabetes mellitus, permanent neonatal 3

No Assertion Criteria Provided

CA340877

rs_193929360

2 SubmittersRCV000009681 RCV001089462

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.631C>A (p.Gln211Lys)

SNV
Germline

Chr11:17461774

Pathogenic

Permanent neonatal diabetes mellitus
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341693

rs_193929366

3 SubmittersRCV000020290 RCV003556056

NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro)

SNV
Germline

Chr11:17461731

Pathogenic/Likely pathogenic

Permanent neonatal diabetes mellitus
Neonatal diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA341695

rs_1048095

3 SubmittersRCV000020291 RCV002051791

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

SNV
Germline

Chr11:17476795

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
not specified
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

CA213433

rs_193922394

5 SubmittersRCV000382247 RCV000242519 RCV000267816 RCV000325185 RCV001668134 RCV002254149 RCV002254148

NM_000352.6(ABCC8):c.1332+17G>C

SNV
Germline

Chr11:17448499

Conflicting classifications of pathogenicity

Familial hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Condition: not provided

Criteria Provided
Conflicting Classifications

CA260101

rs_193922395

3 SubmittersRCV000029249 RCV002251928 RCV002251927 RCV003727607

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

SNV
Germline

Chr11:17442778

Conflicting classifications of pathogenicity

Neonatal diabetes mellitus
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 SubmittersRCV000029250 RCV000242823 RCV000295869 RCV000334556 RCV000402755 RCV000710373 RCV001826508 RCV002266903 RCV002266904

NM_000352.6(ABCC8):c.1606T>C (p.Phe536Leu)

SNV
Germline

Chr11:17442744

Likely pathogenic

Neonatal diabetes mellitus

Criteria Provided
Single Submitter

CA213438

rs_193922396

1 SubmittersRCV000029251

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

SNV
Germline

Chr11:17442734

Conflicting classifications of pathogenicity

Maturity onset diabetes mellitus in young
Diabetes mellitus, transient neonatal, 2
Transitory neonatal diabetes mellitus
Condition: not provided

Criteria Provided
Conflicting Classifications

CA213441

rs_193922397

4 SubmittersRCV002266905 RCV001823102 RCV002266906 RCV003137542

NM_000352.6(ABCC8):c.2117-12C>A

SNV
Germline

Chr11:17427166

Conflicting classifications of pathogenicity

Neonatal diabetes mellitus
not specified
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Condition: not provided

Criteria Provided
Conflicting Classifications

CA213444

rs_193922398

4 SubmittersRCV000029253 RCV000251505 RCV002251430 RCV002251429 RCV003736543

NM_000352.6(ABCC8):c.3542T>G (p.Phe1181Cys)

SNV
Germline/somatic

Chr11:17404527

Conflicting classifications of pathogenicity

Neonatal diabetes mellitus
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA213448

rs_193922399

2 SubmittersRCV000029256 RCV002243664 RCV002243663

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

Criteria Provided
Conflicting Classifications

CA171080

rs_1800853

10 SubmittersRCV000144997 RCV001533256 RCV001533258 RCV001533259 RCV001277183 RCV001523332 RCV001533257 RCV002226656

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

SNV
Germline

Chr11:17463609

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA213453

rs_186946111

6 SubmittersRCV000029260 RCV000876485 RCV000763721 RCV001818179 RCV002254151 RCV002254150 RCV002513234

NM_000352.6(ABCC8):c.4136G>T (p.Arg1379Leu)

SNV
Germline

Chr11:17395914

Pathogenic/Likely pathogenic

Neonatal diabetes mellitus
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA213457

rs_193922401

2 SubmittersRCV000029262 RCV001818180

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
Hyperinsulinemic hypoglycemia, familial, 1
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA260102

rs_137852676

9 SubmittersRCV000009657 RCV000029263 RCV001390783 RCV001277179 RCV003321485 RCV003466873

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

SNV
Germline

Chr11:17395611

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA260104

rs_193922402

8 SubmittersRCV000169593 RCV001818181 RCV002477010 RCV001826509 RCV003466874

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

SNV
Germline/somatic

Chr11:17394413

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA213463

rs_193922404

7 SubmittersRCV000029266 RCV000517239 RCV001274287 RCV002243667 RCV002482906 RCV002243668 RCV003556088 RCV004541018

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

SNV
Germline/somatic

Chr11:17394360

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

CA260107

rs_193922405

3 SubmittersRCV000029267 RCV002243669 RCV002243670 RCV004998106

NM_000352.6(ABCC8):c.4553T>G (p.Ile1518Ser)

SNV
Germline/somatic

Chr11:17393752

Conflicting classifications of pathogenicity

Neonatal diabetes mellitus
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA213464

rs_193922406

2 SubmittersRCV000029268 RCV002243672 RCV002243671

NM_000352.6(ABCC8):c.4564G>A (p.Val1522Met)

SNV
Germline

Chr11:17393741

Likely pathogenic

Neonatal diabetes mellitus

Criteria Provided
Single Submitter

CA213467

rs_193922407

1 SubmittersRCV000029269

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_980458021

4 SubmittersRCV000032668 RCV001211946 RCV003466885

NM_000352.6(ABCC8):c.4485C>T (p.Phe1495=)

SNV
Germline/somatic

Chr11:17394326

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_267602801

2 SubmittersRCV001440751 RCV002243692 RCV002243693

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
Hereditary hyperinsulinism
Leucine-induced hypoglycemia
Diabetes mellitus, permanent neonatal 3
Condition: not provided
Cerebral edema

Criteria Provided
Conflicting Classifications

CA171042

rs_1799857

11 SubmittersRCV000144979 RCV000302706 RCV000402117 RCV000576376 RCV001272238 RCV001533248 RCV001533249 RCV001520136 RCV002226677

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

SNV
Germline/somatic

Chr11:17428403

Conflicting classifications of pathogenicity

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

8 SubmittersRCV000144980 RCV000381876 RCV000347248 RCV000289964 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
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Hereditary hyperinsulinism
Condition: not provided
Diabetes mellitus, permanent neonatal 3
Leucine-induced hypoglycemia
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA171048

rs_1799858

10 SubmittersRCV000144981 RCV000286519 RCV000378609 RCV000576654 RCV001272235 RCV001512802 RCV001533247 RCV001533246 RCV002226678

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

SNV
Germline/somatic

Chr11:17474969

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA171051

rs_1048099

12 SubmittersRCV000144982 RCV000405380 RCV000314568 RCV000334473 RCV000576854 RCV001272249 RCV001533252 RCV001533269 RCV002226679

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

SNV
Germline/somatic

Chr11:17412684

Conflicting classifications of pathogenicity

not specified
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

Criteria Provided
Conflicting Classifications

CA171062

rs_73423037

7 SubmittersRCV000144987 RCV000279197 RCV000338883 RCV000396687 RCV000865324 RCV002243798 RCV002243799

NM_000352.6(ABCC8):c.2556+22G>A

SNV
Germline

Chr11:17412644

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA171065

rs_73423036

3 SubmittersRCV000144988 RCV001565995 RCV002251736 RCV002251735

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
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA171066

rs_2106865

9 SubmittersRCV000144989 RCV000576868 RCV001533276 RCV001533277 RCV001533278 RCV001533279 RCV002251435 RCV002273961

NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=)

SNV
Germline/somatic

Chr11:17402699

Conflicting classifications of pathogenicity

not specified
Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
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 RCV000377901 RCV000283418 RCV000337179 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
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA171081

rs_739689

4 SubmittersRCV000144998 RCV001533260 RCV001533261 RCV001533262 RCV001533263 RCV001682843 RCV002243802 RCV002243803

NM_000352.6(ABCC8):c.4174T>G (p.Phe1392Val)

SNV
Germline

Chr11:17395876

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA233277

rs_587783171

1 SubmittersRCV000144999

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

SNV
Germline

Chr11:17463594

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA171082

rs_116132921

9 SubmittersRCV000145000 RCV000370073 RCV000277787 RCV001272246 RCV002254155 RCV003105797 RCV000297828 RCV000710387

NM_000352.6(ABCC8):c.4431C>T (p.Gly1477=)

SNV
Germline

Chr11:17394380

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA270977

rs_145673861

6 SubmittersRCV000394786 RCV000907727 RCV002326850 RCV000145001 RCV000294704 RCV001657829

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

SNV
Germline/somatic

Chr11:17393168

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA171085

rs_1109591

4 SubmittersRCV000145002 RCV001533241 RCV001533240 RCV001533242 RCV001610440 RCV001533243 RCV002243805 RCV002243804

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

SNV
Germline/somatic

Chr11:17463424

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA171092

rs_2301703

10 SubmittersRCV000145005 RCV000286439 RCV000340412 RCV000378527 RCV000576808 RCV001533250 RCV001533251 RCV002226684

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

SNV
Germline

Chr11:17460684

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA171093

rs_201000679

5 SubmittersRCV000145006 RCV002253240 RCV002273818 RCV002514783 RCV002467586 RCV004532639

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

SNV
Germline

Chr11:17393109

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274017

rs_72559713

8 SubmittersRCV000169185 RCV000800626 RCV001826866 RCV002492687 RCV003468836 RCV004535147

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

SNV
Germline

Chr11:17395172

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274147

rs_72559716

8 SubmittersRCV000169299 RCV000586940 RCV001277177 RCV001385864 RCV004545752 RCV003468839

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
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

Criteria Provided
Multiple Submitters
No Conflicts

CA274108

rs_541269678

11 SubmittersRCV000169265 RCV000780808 RCV001040693 RCV002505223 RCV004567366

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

SNV
Germline

Chr11:17408415

Pathogenic/Likely pathogenic

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

CA248480

rs_570388861

8 SubmittersRCV000169216 RCV000201910 RCV002492688 RCV003468837

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

SNV
Germline/somatic

Chr11:17412716

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA248477

rs_72559722

14 SubmittersRCV000169276 RCV000201895 RCV000763234 RCV001277195 RCV003462267 RCV004555856

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

SNV
Germline

Chr11:17427865

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA274353

rs_786204676

4 SubmittersRCV000169482 RCV001376866 RCV002251436 RCV004556759

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

SNV
Germline

Chr11:17470224

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

Criteria Provided
Conflicting Classifications

CA274374

rs_786204695

5 SubmittersRCV000169506 RCV000802759 RCV002254282 RCV002254156 RCV004567370

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

SNV
Germline

Chr11:17410600

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA242142

rs_111967655

8 SubmittersRCV000176259 RCV000296584 RCV000351650 RCV000406499 RCV001274297 RCV002251441 RCV002251440 RCV003165366

NM_000352.6(ABCC8):c.4482C>T (p.Ala1494=)

SNV
Germline

Chr11:17394329

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA209674

rs_374853931

3 SubmittersRCV000195089 RCV000930273 RCV002327023

NM_000352.6(ABCC8):c.4314C>T (p.Asn1438=)

SNV
Germline/somatic

Chr11:17395269

Conflicting classifications of pathogenicity

not specified
Maturity onset diabetes mellitus in young
Condition: not provided
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA207956

rs_752809991

3 SubmittersRCV000194056 RCV002243873 RCV001404323 RCV002243874

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

Criteria Provided
Multiple Submitters
No Conflicts

CA206064

rs_797045209

6 SubmittersRCV000192916 RCV001640282 RCV002051825 RCV002500586 RCV002517038 RCV003987437

NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=)

SNV
Germline/somatic

Chr11:17405548

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary hyperinsulinism
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus
ABCC8-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA208872

rs_186634115

6 SubmittersRCV000194603 RCV000928929 RCV001274294 RCV002250591 RCV002250592 RCV004530091 RCV004955323

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.1858C>T (p.Arg620Cys)

SNV
Germline

Chr11:17428630

Conflicting classifications of pathogenicity

not specified
Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Monogenic diabetes
Hereditary hyperinsulinism

Criteria Provided
Conflicting Classifications

CA206924

rs_58241708

12 SubmittersRCV000193433 RCV000671926 RCV000952127 RCV001174394 RCV001274301

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

SNV
Germline

Chr11:17430924

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA205213

rs_147623093

12 SubmittersRCV000192409 RCV000299115 RCV000394777 RCV000356211 RCV000951012 RCV001272237 RCV001507324 RCV002266929 RCV002399710 RCV002266930

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
Inborn genetic diseases
Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

CA207378

rs_117874766

10 SubmittersRCV000193705 RCV000360233 RCV000303097 RCV000396751 RCV001279195 RCV001336811 RCV001546216 RCV002514096 RCV004558438 RCV004734847

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

SNV
Germline

Chr11:17448596

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA205176

rs_67254669

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

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

SNV
Germline

Chr11:17453232

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA208474

rs_145136257

13 SubmittersRCV000194352 RCV000279694 RCV000333629 RCV000662058 RCV000662059 RCV000710368 RCV001835716 RCV002517037

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

Criteria Provided
Multiple Submitters
No Conflicts

CA276976

rs_797045213

9 SubmittersRCV000192482 RCV000517846 RCV001833135 RCV003227708 RCV004567393

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

SNV
Germline

Chr11:17470182

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277230

rs_761749884

8 SubmittersRCV000193936 RCV001068772 RCV001804929 RCV003468881

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

SNV
Germline

Chr11:17474937

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Conflicting Classifications

CA277044

rs_797045208

2 SubmittersRCV000192892

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

SNV
Germline

Chr11:17461722

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA279580

rs_863225280

7 SubmittersRCV000201871 RCV000590369 RCV000984139 RCV002253285 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
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

CA5903742

rs_185040406

9 SubmittersRCV000369588 RCV000490279 RCV000671927 RCV001108196 RCV001108197 RCV001279202 RCV001818510 RCV004796105

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

SNV
Germline

Chr11:17402671

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5902756

rs_139964066

6 SubmittersRCV000666191 RCV000223959 RCV000588494 RCV003469115 RCV001828097

NM_000352.6(ABCC8):c.4545+13C>T

SNV
Germline/somatic

Chr11:17394253

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA5902447

rs_78338172

5 SubmittersRCV000251638 RCV000710391 RCV002243934 RCV002243933

NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=)

SNV
Germline/somatic

Chr11:17394269

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5902454

rs_113282901

10 SubmittersRCV000246698 RCV000291223 RCV000343814 RCV000378065 RCV000873407 RCV001277176 RCV002243932 RCV002243931 RCV002338796

NM_000352.6(ABCC8):c.3557+20G>C

SNV
Germline/somatic

Chr11:17404492

Conflicting classifications of pathogenicity

not specified
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5902780

rs_764779784

3 SubmittersRCV000246101 RCV002243929 RCV002243930 RCV003718146

NM_000352.6(ABCC8):c.2427A>G (p.Pro809=)

SNV
Germline

Chr11:17413442

Conflicting classifications of pathogenicity

not specified
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA10587109

rs_886038286

2 SubmittersRCV000251803 RCV002266939 RCV002266940

NM_000352.6(ABCC8):c.822+20C>T

SNV
Germline

Chr11:17461563

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA5903768

rs_181998151

4 SubmittersRCV000243963 RCV002057345 RCV002253317 RCV002253316

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

SNV
Germline

Chr11:17470159

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903902

rs_137873871

10 SubmittersRCV000323715 RCV000254079 RCV000265731 RCV000377126 RCV000710380 RCV001272248 RCV002254159 RCV002254158 RCV002450766

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

SNV
Germline

Chr11:17476784

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5904006

rs_200091822

6 SubmittersRCV000245897 RCV000264204 RCV000302860 RCV000359986 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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10603180

rs_886041391

5 SubmittersRCV000334836 RCV000984137 RCV002274007 RCV004556774

NM_000352.6(ABCC8):c.279C>A (p.Ile93=)

SNV
Germline

Chr11:17474897

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5903935

rs_550990673

5 SubmittersRCV000376852 RCV001276288 RCV004782340 RCV004955378

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

SNV
Germline

Chr11:17397205

Conflicting classifications of pathogenicity

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

CA5902631

rs_200563930

6 SubmittersRCV000339446 RCV000664136 RCV001810444 RCV002282111 RCV002494880

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
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5902392

rs_367862706

4 SubmittersRCV000259922 RCV000317437 RCV000357088 RCV000979519 RCV002244754 RCV002244753 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

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

Criteria Provided
Conflicting Classifications

CA5903065

rs_531684936

6 SubmittersRCV000290773 RCV000331715 RCV000386179 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
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10630470

rs_886048052

3 SubmittersRCV000286566 RCV000340459 RCV000376418 RCV002251460 RCV002251459 RCV002520702

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
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA5903318

rs_150316347

3 SubmittersRCV000276185 RCV000314838 RCV000367366 RCV000871729 RCV002251462 RCV002251461

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
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10630471

rs_886048055

3 SubmittersRCV000293105 RCV000330959 RCV000387749 RCV002266949 RCV002266948 RCV002056181

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

Criteria Provided
Conflicting Classifications

CA5903864

rs_149872185

4 SubmittersRCV000312282 RCV000347325 RCV000396828 RCV000918189 RCV002254160 RCV002254521 RCV004544511

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
Permanent neonatal diabetes mellitus
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5902382

rs_770317560

2 SubmittersRCV000275583 RCV000318584 RCV000367803 RCV002520698

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

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

Criteria Provided
Conflicting Classifications

CA5902525

rs_373478721

5 SubmittersRCV000297318 RCV000354588 RCV000399523 RCV000975624 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

4 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

Diabetes mellitus, transient neonatal, 2
Permanent neonatal diabetes mellitus
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 SubmittersRCV000340284 RCV000299357 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
Condition: not provided
Maturity onset diabetes mellitus in young
Hyperinsulinemic hypoglycemia, familial, 1
Inborn genetic diseases
Transitory neonatal diabetes mellitus
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

CA5902682

rs_377045545

6 SubmittersRCV000275432 RCV000310742 RCV000915714 RCV002246120 RCV000365441 RCV002356417 RCV002246121 RCV004537708

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
Condition: not provided
not specified
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA5902784

rs_144207158

4 SubmittersRCV000273585 RCV000314454 RCV000368056 RCV000932525 RCV000502198 RCV002244769 RCV002244768

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

SNV
Germline

Chr11:17413447

Conflicting classifications of pathogenicity

Diabetes mellitus, transient neonatal, 2
Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5903144

rs_202189540

2 SubmittersRCV000273521 RCV000310642 RCV000368130 RCV004021505

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

SNV
Germline

Chr11:17427954

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903321

rs_201419039

8 SubmittersRCV000260794 RCV000318223 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
Transitory neonatal diabetes mellitus
Permanent neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Condition: not provided
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

CA5903536

rs_761748692

6 SubmittersRCV000280602 RCV000337979 RCV002266951 RCV000396760 RCV002266950 RCV002520703 RCV004537710

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
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
not specified

Criteria Provided
Conflicting Classifications

CA5902604

rs_373737642

5 SubmittersRCV000279547 RCV000334553 RCV000397452 RCV000942711 RCV002246115 RCV002244761 RCV003323504

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
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA5902766

rs_544550330

3 SubmittersRCV000308839 RCV000344478 RCV000396524 RCV000883975 RCV002244767 RCV002244766

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
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

CA5902807

rs_371089976

6 SubmittersRCV000260467 RCV000315723 RCV000369085 RCV000941651 RCV002244771 RCV002244770 RCV002450850 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
Hereditary hyperinsulinism
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5902919

rs_367974472

5 SubmittersRCV000292832 RCV000352427 RCV000394844 RCV001278400 RCV002250621 RCV002251452 RCV002056180

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
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA10637950

rs_886048051

3 SubmittersRCV000269894 RCV000324985 RCV000384255 RCV003708509 RCV002251456 RCV002251455

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
Maturity onset diabetes mellitus in young
Condition: not provided
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA5903107

rs_140068774

4 SubmittersRCV000303371 RCV000339611 RCV000396695 RCV002244774 RCV002520701 RCV002244775

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
Condition: not provided
Diabetes mellitus, transient neonatal, 2
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5903396

rs_146156937

8 SubmittersRCV000295518 RCV000352596 RCV000590129 RCV000404181 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
not specified
Transitory neonatal diabetes mellitus
Permanent neonatal diabetes mellitus
Hereditary hyperinsulinism
Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Maturity onset diabetes mellitus in young
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

CA5903981

rs_199925058

7 SubmittersRCV000299216 RCV001820893 RCV002254165 RCV000356645 RCV001276289 RCV000394438 RCV000899129 RCV002254164 RCV004537712

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

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

Criteria Provided
Conflicting Classifications

CA5902586

rs_138642224

8 SubmittersRCV000296366 RCV000349002 RCV000387248 RCV000710383 RCV001833441 RCV001820891 RCV004734966

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
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5902636

rs_765708759

4 SubmittersRCV000269973 RCV000305055 RCV000359920 RCV000877067 RCV002246119 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
Inborn genetic diseases
Maturity onset diabetes mellitus in young
Condition: not provided
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA5902966

rs_780868010

4 SubmittersRCV000264215 RCV000323996 RCV000359855 RCV004021504 RCV002251453 RCV002522189 RCV002251454

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

Criteria Provided
Conflicting Classifications

CA5903364

rs_146378237

5 SubmittersRCV000264134 RCV000321571 RCV000375215 RCV000876083 RCV001274299

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
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

CA5903915

rs_764107333

6 SubmittersRCV000291838 RCV000349251 RCV000383921 RCV000499468 RCV000710052 RCV002254163 RCV002254162 RCV004537711

NM_000352.5(ABCC8):c.*118A>G

SNV
Germline/somatic

Chr11:17392873

Conflicting classifications of pathogenicity

Hyperinsulinism, Dominant/Recessive
Permanent neonatal diabetes mellitus
Transient Neonatal Diabetes, Dominant
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA10654473

rs_142441893

2 SubmittersRCV000264451 RCV000324321 RCV000373169 RCV002244842 RCV002244841

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
Condition: not provided
Maturity onset diabetes mellitus in young
Type 2 diabetes mellitus
Neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA16041435

rs_1057516404

5 SubmittersRCV000409836 RCV001380090 RCV002244843 RCV003475943 RCV004556782

NM_000352.6(ABCC8):c.4120-1G>T

SNV
Somatic

Chr11:17395931

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16041436

rs_1057517406

2 SubmittersRCV000412164 RCV002244858 RCV002274022

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
Transitory neonatal diabetes mellitus
Condition: not provided
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA16041439

rs_1057516718

5 SubmittersRCV000411306 RCV002244849 RCV002244850 RCV003558361 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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041440

rs_1057516281

6 SubmittersRCV000410347 RCV000779675 RCV001828371 RCV001821133 RCV003463787

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

SNV
Somatic

Chr11:17402659

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16041441

rs_1057517274

2 SubmittersRCV000411391 RCV002244857 RCV002244856

NM_000352.6(ABCC8):c.3525C>G (p.Tyr1175Ter)

SNV
Somatic

Chr11:17404544

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16041443

rs_1057516439

2 SubmittersRCV000411703 RCV002244846 RCV002244845

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041444

rs_576684889

6 SubmittersRCV000409731 RCV001066925 RCV001277191 RCV001797710 RCV003470338

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

SNV
Germline/somatic

Chr11:17406942

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

CA16041445

rs_1057516585

3 SubmittersRCV000411424 RCV002251469 RCV002251468 RCV001388603

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

SNV
Germline

Chr11:17408518

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16041446

rs_1057517420

5 SubmittersRCV000409858 RCV000588002 RCV002251474 RCV002251475 RCV002523883 RCV003470354

NM_000352.6(ABCC8):c.2556+1G>A

SNV
Germline

Chr11:17412665

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Conflicting Classifications

CA5903096

rs_749271190

2 SubmittersRCV000410235

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

SNV
Germline

Chr11:17416928

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

Criteria Provided
Conflicting Classifications

CA16041448

rs_1057516589

4 SubmittersRCV000411947 RCV001210957 RCV002251471 RCV002251470 RCV003475950

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

SNV
Germline

Chr11:17432203

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16041451

rs_1057516509

4 SubmittersRCV000412268 RCV002307491 RCV002266959 RCV002266958 RCV003463791

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

SNV
Germline

Chr11:17442719

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided
Hereditary hyperinsulinism
Diabetes mellitus, permanent neonatal 3
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

CA5903512

rs_773306994

6 SubmittersRCV000411351 RCV000816954 RCV001272240 RCV002502422 RCV003475953

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

SNV
Unknown

Chr11:17442884

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

CA16041453

rs_1057516946

1 SubmittersRCV000411098

NM_000352.6(ABCC8):c.1467+2T>C

SNV
Unknown

Chr11:17443176

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16041454

rs_1057517128

2 SubmittersRCV000412284 RCV002252112 RCV002252111

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

SNV
Unknown

Chr11:17461713

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

CA16041456

rs_1057517139

1 SubmittersRCV000410965

NM_000352.6(ABCC8):c.413-2A>G

SNV
Unknown

Chr11:17463606

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16041459

rs_1057517015

2 SubmittersRCV000410546 RCV002254295 RCV002254166

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

SNV
Germline

Chr11:17474956

Pathogenic/Likely pathogenic

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

CA5903947

rs_201682634

7 SubmittersRCV000409175 RCV001203709 RCV001828376 RCV002230219 RCV002502430 RCV003463804

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

SNV
Germline

Chr11:17453228

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5903679

rs_59852838

6 SubmittersRCV000445377 RCV000710369 RCV001104822 RCV001104821 RCV001104823 RCV001272244 RCV002265764

NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn)

SNV
Germline/somatic

Chr11:17393742

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Monogenic diabetes
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

CA5902427

rs_142272833

8 SubmittersRCV000500617 RCV000514132 RCV001174390 RCV002244966 RCV002244967 RCV004735573

NM_000352.6(ABCC8):c.4524G>A (p.Thr1508=)

SNV
Germline/somatic

Chr11:17394287

Conflicting classifications of pathogenicity

not specified
Maturity onset diabetes mellitus in young
Condition: not provided
Inborn genetic diseases
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

CA5902455

rs_553746345

4 SubmittersRCV000504463 RCV002244964 RCV001446350 RCV003159614 RCV002244965

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

Criteria Provided
Multiple Submitters
No Conflicts

CA218406864

rs_72559715

9 SubmittersRCV000503504 RCV000763232 RCV000710389 RCV001848864 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

4 SubmittersRCV000503846 RCV001280724

NM_000352.6(ABCC8):c.4265C>G (p.Ser1422Cys)

SNV
Germline/somatic

Chr11:17395652

Conflicting classifications of pathogenicity

Permanent neonatal diabetes mellitus
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA379786606

rs_1554904936

2 SubmittersRCV000501443 RCV002244972 RCV002244971

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.3593C>T (p.Pro1198Leu)

SNV
Germline

Chr11:17402718

Pathogenic/Likely pathogenic

Permanent neonatal diabetes mellitus
Neonatal diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA379796687

rs_1554909277

2 SubmittersRCV000500160 RCV002051860

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
Condition: not provided
Hereditary hyperinsulinism
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA5902971

rs_757171524

7 SubmittersRCV000502550 RCV001288417 RCV001834612 RCV003470624

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

Criteria Provided
Conflicting Classifications

CA5903282

rs_138687850

8 SubmittersRCV000501008 RCV000763719 RCV001102697 RCV001102698 RCV001102699 RCV001278414 RCV002056831

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

SNV
Germline

Chr11:17427128

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA379813722

rs_1554924142

3 SubmittersRCV000500528 RCV000518807 RCV002251482 RCV002251481

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

SNV
Germline

Chr11:17430839

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5903454

rs_139328569

11 SubmittersRCV000500331 RCV001380990 RCV001797741 RCV001829422 RCV002496936 RCV003470626 RCV004535574

NM_000352.6(ABCC8):c.1486C>T (p.Leu496=)

SNV
Germline

Chr11:17442864

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

CA5903551

rs_150956385

4 SubmittersRCV000504507 RCV000977798 RCV002266971 RCV002266970 RCV004541548

NM_000352.4(ABCC8):c.-544G>A

SNV
Germline

Chr11:17477320

Conflicting classifications of pathogenicity

not specified
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA218464631

rs_184908312

2 SubmittersRCV000499749 RCV002253494 RCV002253493

NM_000352.6(ABCC8):c.4591A>C (p.Thr1531Pro)

SNV
Germline/somatic

Chr11:17393714

Conflicting classifications of pathogenicity

not specified
Diabetes mellitus, transient neonatal, 2
Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA218406302

rs_796891223

4 SubmittersRCV000516737 RCV000853271 RCV001829462 RCV002244992 RCV002244991

NM_000352.6(ABCC8):c.4198+18C>T

SNV
Germline/somatic

Chr11:17395834

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA5902539

rs_373178978

4 SubmittersRCV000516803 RCV002060228 RCV002244990 RCV002244989

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

SNV
Germline

Chr11:17395872

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5902547

rs_769279368

9 SubmittersRCV000518373 RCV000671471 RCV001277180 RCV003470643 RCV003884589

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

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

Criteria Provided
Conflicting Classifications

CA5902678

rs_372198547

9 SubmittersRCV000517107 RCV000665490 RCV000876491 RCV001107658 RCV001107659 RCV002246125 RCV002246124 RCV004535667

NM_000352.6(ABCC8):c.3558-7G>A

SNV
Germline

Chr11:17402760

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary hyperinsulinism

Criteria Provided
Conflicting Classifications

CA218415591

rs_900191703

4 SubmittersRCV000518667 RCV000975680 RCV001274292

NM_000352.6(ABCC8):c.3000C>T (p.Cys1000=)

SNV
Germline

Chr11:17407050

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5902946

rs_192863214

6 SubmittersRCV000518732 RCV000870881 RCV002251485 RCV002251484 RCV002438242

NM_000352.6(ABCC8):c.1924-10C>T

SNV
Germline

Chr11:17428415

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus
Hereditary hyperinsulinism

Criteria Provided
Conflicting Classifications

CA5903378

rs_200823913

4 SubmittersRCV000971151 RCV000516634 RCV002266980 RCV002266981 RCV001274300

NM_000352.6(ABCC8):c.1630+10C>T

SNV
Germline

Chr11:17442710

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA5903510

rs_188075767

5 SubmittersRCV000517811 RCV000870664 RCV001274304 RCV002266977 RCV002266976

NM_000352.6(ABCC8):c.1177-56G>A

SNV
Germline

Chr11:17448727

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

CA218447536

rs_183921963

4 SubmittersRCV000516695 RCV002060227 RCV002259981 RCV002253499 RCV004535666

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

SNV
Germline

Chr11:17476715

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5903992

rs_200670692

8 SubmittersRCV000588969 RCV000666072 RCV001386147 RCV001829617 RCV002491164 RCV003459458 RCV004545790

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

SNV
Germline

Chr11:17474955

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5903946

rs_72559734

9 SubmittersRCV000586584 RCV000763236 RCV000710375 RCV000984140 RCV003459457

NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln)

SNV
Unknown

Chr11:17430838

Likely pathogenic

12 conditions

Criteria Provided
Single Submitter

CA379816909

rs_1344172059

1 SubmittersRCV000626669

NM_000352.6(ABCC8):c.1024G>T (p.Gly342Trp)

SNV
Unknown

Chr11:17453271

Conflicting classifications of pathogenicity

12 conditions
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

CA379771442

rs_763028380

2 SubmittersRCV000626668 RCV002259543 RCV002253543

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

rs_1554904107

4 SubmittersRCV000666196 RCV002245084 RCV003151131 RCV002245083

NM_000352.6(ABCC8):c.4412-2A>G

SNV
Somatic

Chr11:17394401

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1554904136

2 SubmittersRCV000673296 RCV002245573 RCV002245572

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

rs_67767715

3 SubmittersRCV000666053 RCV001104230 RCV001816668

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

SNV
Germline

Chr11:17404511

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554910610

2 SubmittersRCV000671355 RCV002531279

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

SNV
Germline

Chr11:17427034

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_377174421

3 SubmittersRCV000674532 RCV002477510 RCV002531354

NM_000352.6(ABCC8):c.2041-1G>A

SNV
Unknown

Chr11:17427943

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1554924630

2 SubmittersRCV000667383 RCV002251502 RCV002251501

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_372307320

7 SubmittersRCV000674549 RCV001383752 RCV002509505 RCV003465538

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

SNV
Germline

Chr11:17461719

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_768017509

5 SubmittersRCV000672033 RCV002507174 RCV002531303 RCV003459633 RCV003987660

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

SNV
Germline

Chr11:17463436

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1449198328

5 SubmittersRCV000671080 RCV002254171 RCV002254172 RCV003472134 RCV003994076

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

SNV
Germline

Chr11:17476658

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1554949242

3 SubmittersRCV000673351 RCV001816681 RCV002253559 RCV002253560

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

rs_1439464815

4 SubmittersRCV000671370 RCV001766448 RCV003459624

NM_000352.6(ABCC8):c.4545+2T>G

SNV
Somatic

Chr11:17394264

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1554904006

2 SubmittersRCV000671943 RCV002245566 RCV002245565

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

SNV
Germline

Chr11:17395664

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_925231098

4 SubmittersRCV000669782 RCV000710385 RCV003465494

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

SNV
Germline

Chr11:17397788

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1185034563

4 SubmittersRCV000667689 RCV001756130 RCV003459587

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

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
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_1554906790

4 SubmittersRCV000672200 RCV001377217 RCV002245568 RCV002245567 RCV003465512

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

SNV
Germline/somatic

Chr11:17412700

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_547150342

6 SubmittersRCV000669690 RCV001861780 RCV002245557 RCV003472116 RCV004556812

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

SNV
Germline

Chr11:17427048

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554923999

3 SubmittersRCV000668105 RCV000710376 RCV000780810

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

SNV
Unknown

Chr11:17427866

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1554924540

2 SubmittersRCV000666201 RCV002251499 RCV002251500

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

SNV
Unknown

Chr11:17442814

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

rs_765090096

1 SubmittersRCV000672131

NM_000352.6(ABCC8):c.1467+1G>T

SNV
Germline

Chr11:17443177

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1554933415

3 SubmittersRCV000672183 RCV002252207 RCV002252208

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

SNV
Germline

Chr11:17460582

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1409900082

2 SubmittersRCV000669163 RCV002531219

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

SNV
Germline

Chr11:17397314

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_766431403

5 SubmittersRCV000667948 RCV001220536 RCV002246134 RCV003459592 RCV004556811

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

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

rs_775776658

6 SubmittersRCV000670385 RCV002531249 RCV003317330 RCV004026113 RCV004735737

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

SNV
Unknown

Chr11:17410515

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_774574576

2 SubmittersRCV000667835 RCV002251504 RCV002251503

NM_000352.6(ABCC8):c.2475+19G>A

SNV
Unknown

Chr11:17413375

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_373894772

2 SubmittersRCV000672364 RCV002251749 RCV002251748

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

SNV
Germline

Chr11:17427954

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

rs_201419039

4 SubmittersRCV000670824 RCV002267009 RCV002060821 RCV002267008

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_746714109

6 SubmittersRCV000669471 RCV001059343 RCV003465492 RCV003278982

NM_000352.6(ABCC8):c.1817+1G>T

SNV
Somatic

Chr11:17430813

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1554926476

2 SubmittersRCV000665423 RCV002266999 RCV002267000

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

SNV
Germline

Chr11:17442774

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_751279984

6 SubmittersRCV000669267 RCV001383751 RCV002477497 RCV003230568 RCV003459609

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

SNV
Germline

Chr11:17442866

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1420601296

4 SubmittersRCV000670691 RCV003155273 RCV003140067 RCV003472129

NM_000352.6(ABCC8):c.1012-2A>G

SNV
Unknown

Chr11:17453285

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1554938866

2 SubmittersRCV000666551 RCV002253551 RCV002253550

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

SNV
Germline

Chr11:17463481

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_919281813

2 SubmittersRCV000667913 RCV002530729

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

SNV
Unknown

Chr11:17474884

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1554948310

3 SubmittersRCV000667474 RCV000763235 RCV002254308 RCV002254307

NM_000352.6(ABCC8):c.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

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
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_1554948445

3 SubmittersRCV000666533 RCV002273822 RCV002254304 RCV004568501

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1411638309

3 SubmittersRCV000672393 RCV001379884

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

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

rs_1554906449

4 SubmittersRCV000667898 RCV002246133 RCV002246132 RCV002530728 RCV004568512

NM_000352.6(ABCC8):c.3754-2A>G

SNV
Somatic

Chr11:17397799

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1554906450

2 SubmittersRCV000674702 RCV002246139 RCV002246138

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

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
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Monogenic diabetes
not specified
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_761862121

7 SubmittersRCV000675026 RCV001107830 RCV001102596 RCV001174391 RCV001805796 RCV003465540

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

SNV
Germline

Chr11:17427048

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

Criteria Provided
Conflicting Classifications

rs_1554923999

4 SubmittersRCV000670459 RCV001036502 RCV002251508 RCV002251507 RCV003459616

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

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

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
Transitory neonatal diabetes mellitus
not specified
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_1554933168

4 SubmittersRCV000665950 RCV002267001 RCV002267002 RCV004702280 RCV003459574

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

SNV
Germline

Chr11:17448672

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

rs_1167993548

3 SubmittersRCV000672967 RCV002254311 RCV002254310 RCV003660827

NM_000352.6(ABCC8):c.823-1G>A

SNV
Unknown

Chr11:17460677

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1247430874

2 SubmittersRCV000669420 RCV002253553 RCV002253552

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

SNV
Germline

Chr11:17476632

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_1554949196

2 SubmittersRCV000671753 RCV002051878

NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln)

SNV
Germline

Chr11:17393124

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Neonatal diabetes mellitus
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

rs_1564869850

7 SubmittersRCV000710393 RCV002245621 RCV004556818 RCV004527754

NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His)

SNV
Germline

Chr11:17395914

Pathogenic/Likely pathogenic

Condition: not provided
Monogenic diabetes
Maturity onset diabetes mellitus in young
ABCC8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_193922401

5 SubmittersRCV000710386 RCV001249023 RCV002307604 RCV004535759

NM_000352.6(ABCC8):c.4119+18A>G

SNV
Germline/somatic

Chr11:17396898

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_75967811

5 SubmittersRCV000710384 RCV002245618 RCV002245617

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

SNV
Germline

Chr11:17406748

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_139524121

7 SubmittersRCV000710379 RCV000988490 RCV001104429 RCV001104124 RCV003226376

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

SNV
Germline

Chr11:17406943

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_755259997

6 SubmittersRCV000710378 RCV001174850 RCV002251514 RCV003465648 RCV004556817

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

SNV
Germline

Chr11:17460571

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_769569410

10 SubmittersRCV000710397 RCV001825411 RCV002255099 RCV002499280 RCV003321726 RCV004782524 RCV004735763

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

SNV
Germline

Chr11:17461663

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_72559730

7 SubmittersRCV000710396 RCV001192814 RCV001825410 RCV002493256 RCV003465649

NM_000352.6(ABCC8):c.3346C>G (p.Pro1116Ala)

SNV
Germline/somatic

Chr11:17405547

Conflicting classifications of pathogenicity

Familial hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_1564890766

2 SubmittersRCV000714651 RCV002245626 RCV002245625

NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val)

SNV
Germline

Chr11:17428614

Conflicting classifications of pathogenicity

Monogenic diabetes
not specified
Condition: not provided
ABCC8-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_148709148

7 SubmittersRCV001174392 RCV001816804 RCV000732728 RCV004535858 RCV004027043

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

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

Criteria Provided
Conflicting Classifications

rs_146695489

4 SubmittersRCV001105013 RCV000778903 RCV001869139 RCV002265884 RCV003448345

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

SNV
Germline

Chr11:17402670

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_367850779

8 SubmittersRCV000779674 RCV001277187 RCV001290313 RCV001388601 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
ABCC8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1382448285

7 SubmittersRCV000780809 RCV001280725 RCV001830672 RCV003321734 RCV003467313 RCV004545800

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

SNV
Germline

Chr11:17461710

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1564977373

6 SubmittersRCV000780807 RCV000988492 RCV001816835 RCV002253608 RCV003467312 RCV004556820

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

SNV
Germline

Chr11:17453117

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_750586210

7 SubmittersRCV000780806 RCV001037178 RCV001272243 RCV003321733 RCV003461054 RCV004584412

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

SNV
Germline

Chr11:17463521

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_1591896370

1 SubmittersRCV000807622

NM_000352.6(ABCC8):c.152G>A (p.Trp51Ter)

SNV
Germline

Chr11:17475024

Conflicting classifications of pathogenicity

Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1591928988

2 SubmittersRCV002273827 RCV002254319 RCV000814291

NM_000352.6(ABCC8):c.3753+2C>T

SNV
Germline/somatic

Chr11:17398337

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Familial hyperinsulinism

Criteria Provided
Conflicting Classifications

rs_760196276

4 SubmittersRCV000810827 RCV001830770 RCV002246141 RCV002246140 RCV004702442

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

rs_772682942

3 SubmittersRCV000797020 RCV002251516 RCV003321738 RCV004556823

NM_000352.6(ABCC8):c.4360C>T (p.Leu1454=)

SNV
Germline/somatic

Chr11:17395223

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_544133684

2 SubmittersRCV000873281 RCV002245718 RCV002245717

NM_000352.6(ABCC8):c.3111C>T (p.Thr1037=)

SNV
Germline/somatic

Chr11:17406939

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Inborn genetic diseases
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

rs_201662945

5 SubmittersRCV000877387 RCV001274295 RCV002251527 RCV002251526 RCV003169205 RCV004530869

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

SNV
Germline

Chr11:17407092

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_58820146

8 SubmittersRCV000871676 RCV001107177 RCV001107176 RCV001107178 RCV001277194 RCV001817009 RCV002251525 RCV002251524 RCV003169172

NM_000352.6(ABCC8):c.102G>A (p.Val34=)

SNV
Germline

Chr11:17476675

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

rs_189746511

6 SubmittersRCV001253883 RCV001835350 RCV002254340 RCV002254339 RCV003166579 RCV003317468

NM_000352.6(ABCC8):c.1818-6G>A

SNV
Germline

Chr11:17428676

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism
not specified
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_368708177

5 SubmittersRCV000873971 RCV001274302 RCV001817028 RCV002267035 RCV002267034

NM_000352.6(ABCC8):c.291-8C>T

SNV
Germline

Chr11:17470230

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_370095966

2 SubmittersRCV000877378 RCV002254179 RCV002254178

NM_000352.6(ABCC8):c.4703G>A (p.Arg1568Gln)

SNV
Germline/somatic

Chr11:17393034

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Leucine-induced hypoglycemia

Criteria Provided
Conflicting Classifications

rs_374743072

4 SubmittersRCV000945706 RCV001274284 RCV002245781 RCV002245780 RCV004698523

NM_000352.6(ABCC8):c.1368C>T (p.Leu456=)

SNV
Germline

Chr11:17443277

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_775001123

3 SubmittersRCV000952428 RCV001276284 RCV002253710 RCV002253711

NM_000352.6(ABCC8):c.3039G>A (p.Ser1013=)

SNV
Germline

Chr11:17407011

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_17846762

3 SubmittersRCV000907113 RCV001274296 RCV002251530 RCV002251529

NM_000352.6(ABCC8):c.1668C>T (p.Leu556=)

SNV
Germline

Chr11:17432207

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_1287759139

2 SubmittersRCV000901951 RCV002267037 RCV002267038

NM_000352.6(ABCC8):c.945C>T (p.Ala315=)

SNV
Germline

Chr11:17460554

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary hyperinsulinism
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_138521721

6 SubmittersRCV000905546 RCV001818785 RCV001836006 RCV002259544 RCV002260106 RCV003372912

NM_000352.6(ABCC8):c.393C>T (p.Asn131=)

SNV
Germline

Chr11:17470120

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_372524091

3 SubmittersRCV000901645 RCV002254529 RCV002254180 RCV004028517

NM_000352.6(ABCC8):c.234C>A (p.Thr78=)

SNV
Germline

Chr11:17474942

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_1591928554

2 SubmittersRCV000901808 RCV002254323 RCV002254322

NM_000352.6(ABCC8):c.4656G>A (p.Lys1552=)

SNV
Germline/somatic

Chr11:17393081

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism
Maturity onset diabetes mellitus in young
Inborn genetic diseases
Transitory neonatal diabetes mellitus
not specified

Criteria Provided
Conflicting Classifications

rs_145386421

5 SubmittersRCV000922224 RCV001274285 RCV002245738 RCV002332889 RCV002245739 RCV001818873

NM_000352.6(ABCC8):c.4227C>T (p.Ile1409=)

SNV
Germline/somatic

Chr11:17395690

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Inborn genetic diseases
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

rs_146584228

5 SubmittersRCV000919958 RCV001274289 RCV002245735 RCV002245734 RCV002332884 RCV004533538

NM_000352.6(ABCC8):c.4089C>T (p.His1363=)

SNV
Germline/somatic

Chr11:17396946

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_1211875269

2 SubmittersRCV000923346 RCV002245741 RCV002245740

NM_000352.6(ABCC8):c.3618C>T (p.Thr1206=)

SNV
Germline/somatic

Chr11:17402693

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

rs_775134825

3 SubmittersRCV000916636 RCV002245733 RCV002245732 RCV004543439

NM_000352.6(ABCC8):c.3573G>A (p.Leu1191=)

SNV
Germline/somatic

Chr11:17402738

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_1038735802

2 SubmittersRCV000921187 RCV002245737 RCV002245736

NM_000352.6(ABCC8):c.3099G>A (p.Leu1033=)

SNV
Germline

Chr11:17406951

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_200693100

3 SubmittersRCV000916588 RCV001836013 RCV002251531 RCV002274108

NM_000352.6(ABCC8):c.487G>A (p.Gly163Ser)

SNV
Germline

Chr11:17463530

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

rs_574487898

4 SubmittersRCV000926623 RCV001276287 RCV002254182 RCV002254181 RCV004528322

NM_000352.6(ABCC8):c.822+9G>A

SNV
Germline

Chr11:17461574

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_1007498516

2 SubmittersRCV000918669 RCV002253689 RCV002260113

NM_000352.6(ABCC8):c.4653G>A (p.Leu1551=)

SNV
Germline/somatic

Chr11:17393084

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_17846721

2 SubmittersRCV000929296 RCV002245743 RCV002245744

NM_000352.6(ABCC8):c.4581C>T (p.Phe1527=)

SNV
Germline/somatic

Chr11:17393724

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_773042150

4 SubmittersRCV000944003 RCV001274286 RCV002245772 RCV002245771 RCV004029751

NM_000352.6(ABCC8):c.4464G>A (p.Leu1488=)

SNV
Germline/somatic

Chr11:17394347

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_374880588

4 SubmittersRCV000931586 RCV001818900 RCV002245752 RCV002245751 RCV003169353

NM_000352.6(ABCC8):c.4296C>T (p.Ser1432=)

SNV
Germline/somatic

Chr11:17395621

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_752222583

3 SubmittersRCV000942332 RCV001274288 RCV002245768 RCV002245769

NM_000352.6(ABCC8):c.4140C>T (p.Thr1380=)

SNV
Germline/somatic

Chr11:17395910

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Hereditary hyperinsulinism
Inborn genetic diseases
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_574684578

4 SubmittersRCV000932845 RCV002245755 RCV001277182 RCV004029597 RCV002245754

NM_000352.6(ABCC8):c.4095T>C (p.Asn1365=)

SNV
Germline/somatic

Chr11:17396940

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_1207446214

2 SubmittersRCV000944956 RCV002245777 RCV002245778

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

SNV
Germline/somatic

Chr11:17396958

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_547430068

3 SubmittersRCV000941649 RCV001104228 RCV001103945 RCV001104229 RCV002245767 RCV002245766

NM_000352.6(ABCC8):c.3960C>T (p.Thr1320=)

SNV
Germline/somatic

Chr11:17397221

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism
not specified
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_137868047

4 SubmittersRCV000944938 RCV001274290 RCV001818922 RCV002246149 RCV002246148

NM_000352.6(ABCC8):c.3228G>T (p.Val1076=)

SNV
Germline/somatic

Chr11:17406723

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_368587840

2 SubmittersRCV000928377 RCV002250699 RCV002250700

NM_000352.6(ABCC8):c.3129G>A (p.Leu1043=)

SNV
Germline/somatic

Chr11:17406921

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_1591744434

2 SubmittersRCV000930743 RCV002250702 RCV002250701

NM_000352.6(ABCC8):c.2880C>T (p.Ser960=)

SNV
Germline

Chr11:17407394

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_774603418

2 SubmittersRCV000932188 RCV002251533 RCV002251532

NM_000352.6(ABCC8):c.2235C>T (p.Ser745=)

SNV
Germline

Chr11:17416950

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism

Criteria Provided
Conflicting Classifications

rs_200708414

3 SubmittersRCV000930271 RCV001826948

NM_000352.6(ABCC8):c.2094C>T (p.Asn698=)

SNV
Germline

Chr11:17427889

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_757172850

2 SubmittersRCV000941847 RCV002251535 RCV002251534

NM_000352.6(ABCC8):c.2022T>C (p.Ala674=)

SNV
Germline

Chr11:17428307

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_371724951

2 SubmittersRCV000930474 RCV002267045 RCV002267044

NM_000352.6(ABCC8):c.1998G>C (p.Leu666=)

SNV
Germline

Chr11:17428331

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_1191652273

2 SubmittersRCV000928875 RCV002267040 RCV002267041

NM_000352.6(ABCC8):c.1980C>T (p.Thr660=)

SNV
Germline

Chr11:17428349

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_766374930

2 SubmittersRCV000931580 RCV002267046 RCV002267047

NM_000352.6(ABCC8):c.1644G>T (p.Thr548=)

SNV
Germline

Chr11:17432231

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_565996783

4 SubmittersRCV000928907 RCV001274303 RCV002267043 RCV002267042 RCV003307705

NM_000352.6(ABCC8):c.1512C>T (p.Arg504=)

SNV
Germline

Chr11:17442838

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism
not specified
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_148811815

4 SubmittersRCV000941561 RCV001274306 RCV001818914 RCV002267052 RCV002267051

NM_000352.6(ABCC8):c.1416T>C (p.Pro472=)

SNV
Germline

Chr11:17443229

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_1391155490

2 SubmittersRCV000930076 RCV002253696 RCV002253695

NM_000352.6(ABCC8):c.1095C>T (p.Ala365=)

SNV
Germline

Chr11:17453200

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_1256418853

3 SubmittersRCV000929723 RCV001276285 RCV002253694 RCV002290980

NM_000352.6(ABCC8):c.1002C>T (p.Phe334=)

SNV
Germline

Chr11:17460497

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_763978514

2 SubmittersRCV000930796 RCV002259546 RCV002259545

NM_000352.6(ABCC8):c.987G>A (p.Lys329=)

SNV
Germline

Chr11:17460512

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_1216809389

2 SubmittersRCV000943897 RCV002253702 RCV002253703

NM_000352.6(ABCC8):c.813C>T (p.Asp271=)

SNV
Germline

Chr11:17461592

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_569222899

2 SubmittersRCV000943032 RCV002253701 RCV002260116

NM_000352.6(ABCC8):c.735C>T (p.Ile245=)

SNV
Germline

Chr11:17461670

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_535141079

2 SubmittersRCV000942194 RCV002253700 RCV002253699

NM_000352.6(ABCC8):c.546G>A (p.Leu182=)

SNV
Germline

Chr11:17463471

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_1591896019

2 SubmittersRCV000944869 RCV002254188 RCV002254187

NM_000352.6(ABCC8):c.513C>T (p.Leu171=)

SNV
Germline

Chr11:17463504

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_767395738

2 SubmittersRCV000943598 RCV002254186 RCV002254185

NM_000352.6(ABCC8):c.510C>T (p.Cys170=)

SNV
Germline

Chr11:17463507

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
not specified
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_752679178

3 SubmittersRCV000928347 RCV002254324 RCV001818891 RCV002254183

NM_000352.6(ABCC8):c.495G>A (p.Ser165=)

SNV
Germline

Chr11:17463522

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_369136858

4 SubmittersRCV000934068 RCV001826970 RCV002254325 RCV002254184

NM_000352.6(ABCC8):c.3868-5C>T

SNV
Germline/somatic

Chr11:17397318

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_1591715618

2 SubmittersRCV000943838 RCV002246146 RCV002246147

NM_000352.6(ABCC8):c.3754-6C>T

SNV
Germline/somatic

Chr11:17397803

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_1591717230

2 SubmittersRCV000929224 RCV002246142 RCV002246143

NM_000352.6(ABCC8):c.1923+10C>T

SNV
Germline

Chr11:17428555

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_775087598

2 SubmittersRCV000941559 RCV002267050 RCV002267049

NM_000352.6(ABCC8):c.4546-4G>A

SNV
Germline/somatic

Chr11:17393763

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_770984647

2 SubmittersRCV000944862 RCV002245776 RCV002245775

NM_000352.6(ABCC8):c.4546-8C>T

SNV
Germline/somatic

Chr11:17393767

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_1273503048

2 SubmittersRCV000930895 RCV002245748 RCV002245749

NM_000352.6(ABCC8):c.1467+9C>T

SNV
Germline

Chr11:17443169

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_774224706

2 SubmittersRCV000928712 RCV002253693 RCV002252268

NM_000352.6(ABCC8):c.4608+10C>T

SNV
Germline/somatic

Chr11:17393687

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_754304889

2 SubmittersRCV000939780 RCV002245760 RCV002245761

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

rs_1476016104

3 SubmittersRCV000941637 RCV002245764 RCV002245765 RCV003227877

NM_000352.6(ABCC8):c.3753+10A>G

SNV
Germline/somatic

Chr11:17398329

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_1591718533

2 SubmittersRCV000935815 RCV002246145 RCV002246144

NM_000352.6(ABCC8):c.579+9G>A

SNV
Germline

Chr11:17463429

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_776165640

2 SubmittersRCV000931377 RCV002287451 RCV002253697

NM_000352.6(ABCC8):c.2291+8G>A

SNV
Germline

Chr11:17415296

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_748169568

2 SubmittersRCV000957477 RCV002251538 RCV002251537

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

SNV
Germline/somatic

Chr11:17395678

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism
Inborn genetic diseases
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_373478721

4 SubmittersRCV000978173 RCV001832256 RCV003279174 RCV002245802 RCV002245801

NM_000352.6(ABCC8):c.4194C>T (p.Phe1398=)

SNV
Germline/somatic

Chr11:17395856

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_746249607

2 SubmittersRCV000977675 RCV002245798 RCV002245797

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

SNV
Germline

Chr11:17396919

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_562715858

7 SubmittersRCV000976702 RCV001107566 RCV001103944 RCV001107565 RCV002274109 RCV001819151 RCV001832236 RCV002274110 RCV004543645 RCV004958342

NM_000352.6(ABCC8):c.4062C>T (p.Asp1354=)

SNV
Germline/somatic

Chr11:17396973

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_1591714060

2 SubmittersRCV000981902 RCV002245811 RCV002245812

NM_000352.6(ABCC8):c.3996G>A (p.Ser1332=)

SNV
Germline/somatic

Chr11:17397039

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_746146690

2 SubmittersRCV000980241 RCV002245810 RCV002245809

NM_000352.6(ABCC8):c.3513C>A (p.Ala1171=)

SNV
Germline/somatic

Chr11:17404556

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_778961697

2 SubmittersRCV000983080 RCV002245815 RCV002245814

NM_000352.6(ABCC8):c.3439C>T (p.Leu1147=)

SNV
Germline/somatic

Chr11:17404630

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_372257088

4 SubmittersRCV000978801 RCV001274293 RCV002245806 RCV002245805

NM_000352.6(ABCC8):c.3339G>A (p.Glu1113=)

SNV
Germline/somatic

Chr11:17405554

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_757191246

2 SubmittersRCV000978790 RCV002250707 RCV002250708

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

SNV
Germline/somatic

Chr11:17406708

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_771538281

3 SubmittersRCV001104123 RCV000975926 RCV001104122 RCV001104121 RCV002250706 RCV002250705

NM_000352.6(ABCC8):c.3174C>T (p.Leu1058=)

SNV
Germline/somatic

Chr11:17406777

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_778240883

2 SubmittersRCV000975697 RCV002250704 RCV002250703

NM_000352.6(ABCC8):c.2709G>A (p.Lys903=)

SNV
Germline

Chr11:17408503

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_1591749128

2 SubmittersRCV000976973 RCV002251539 RCV002251540

NM_000352.6(ABCC8):c.2178A>G (p.Ala726=)

SNV
Germline

Chr11:17427093

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_747902103

4 SubmittersRCV000978833 RCV002251541 RCV001832262 RCV002251757 RCV002427416

NM_000352.6(ABCC8):c.2169T>C (p.Leu723=)

SNV
Germline

Chr11:17427102

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_1591794603

2 SubmittersRCV000975347 RCV002267053 RCV002251756

NM_000352.6(ABCC8):c.2163G>C (p.Ser721=)

SNV
Germline

Chr11:17427108

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_201724038

2 SubmittersRCV000978251 RCV002271342 RCV002267056

NM_000352.6(ABCC8):c.1938G>A (p.Val646=)

SNV
Germline

Chr11:17428391

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_1591797830

2 SubmittersRCV000975540 RCV002267055 RCV002267054

NM_000352.6(ABCC8):c.1704G>A (p.Glu568=)

SNV
Germline

Chr11:17430927

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_745652559

2 SubmittersRCV000978720 RCV002267057 RCV002267058

NM_000352.6(ABCC8):c.1548C>T (p.Asn516=)

SNV
Germline

Chr11:17442802

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_776590557

2 SubmittersRCV000978839 RCV002267060 RCV002267059

NM_000352.6(ABCC8):c.1296C>T (p.Phe432=)

SNV
Germline

Chr11:17448552

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_1591845922

2 SubmittersRCV000983177 RCV002252277 RCV002252276

NM_000352.6(ABCC8):c.1071C>G (p.Val357=)

SNV
Germline

Chr11:17453224

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_747552453

2 SubmittersRCV000976698 RCV002259547 RCV002259548

NM_000352.6(ABCC8):c.993C>T (p.Asn331=)

SNV
Germline

Chr11:17460506

Conflicting classifications of pathogenicity

Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_752188418

2 SubmittersRCV002253755 RCV002253756 RCV000982707

NM_000352.6(ABCC8):c.951A>G (p.Pro317=)

SNV
Germline

Chr11:17460548

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_1591885314

2 SubmittersRCV000978269 RCV002253753 RCV002253754

NM_000352.6(ABCC8):c.552C>T (p.Leu184=)

SNV
Germline

Chr11:17463465

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_151211613

2 SubmittersRCV000978587 RCV002254190 RCV002254189

NM_000352.6(ABCC8):c.405G>C (p.Leu135=)

SNV
Germline

Chr11:17470108

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_1591916038

2 SubmittersRCV000982386 RCV002254194 RCV002254193

NM_000352.6(ABCC8):c.165C>T (p.Ser55=)

SNV
Germline

Chr11:17475011

Conflicting classifications of pathogenicity

Transitory neonatal diabetes mellitus
Condition: not provided
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_1591928903

2 SubmittersRCV002254327 RCV000982368 RCV002254326

NM_000352.6(ABCC8):c.108C>T (p.His36=)

SNV
Germline

Chr11:17476669

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_757935183

3 SubmittersRCV000983735 RCV002253758 RCV002253757 RCV004030085

NM_000352.6(ABCC8):c.45C>T (p.Tyr15=)

SNV
Germline

Chr11:17476732

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_758231286

2 SubmittersRCV000981425 RCV002254192 RCV002254191

NM_000352.6(ABCC8):c.4199-6A>G

SNV
Germline/somatic

Chr11:17395724

Conflicting classifications of pathogenicity

Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1591710040

2 SubmittersRCV002245800 RCV002245799 RCV000978000

NM_000352.6(ABCC8):c.3650+9C>A

SNV
Germline/somatic

Chr11:17402652

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_1591730796

2 SubmittersRCV000978860 RCV002245808 RCV002245807

NM_000352.6(ABCC8):c.2391-6C>T

SNV
Germline

Chr11:17413484

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
not specified
Hereditary hyperinsulinism

Criteria Provided
Conflicting Classifications

rs_556416038

4 SubmittersRCV000981142 RCV002251545 RCV002251544 RCV003396568 RCV001274298

NM_000352.6(ABCC8):c.1012-6C>T

SNV
Germline

Chr11:17453289

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_764178736

2 SubmittersRCV000978200 RCV002253752 RCV002253751

NM_000352.6(ABCC8):c.1818-7C>T

SNV
Germline

Chr11:17428677

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Hereditary hyperinsulinism

Criteria Provided
Conflicting Classifications

rs_17846731

3 SubmittersRCV000983430 RCV002267062 RCV002267061 RCV001832296

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

SNV
Germline

Chr11:17402733

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

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
Hereditary hyperinsulinism
not specified
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_143557848

5 SubmittersRCV000991473 RCV001832302 RCV001819698 RCV002245824 RCV002245823

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

rs_1266053680

4 SubmittersRCV000991472 RCV003329118 RCV004577347

NM_000352.6(ABCC8):c.2146G>A (p.Gly716Ser)

SNV
Germline

Chr11:17427125

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_1591794677

2 SubmittersRCV000991470 RCV002267064 RCV002267063

NM_000352.6(ABCC8):c.1421A>G (p.Gln474Arg)

SNV
Germline

Chr11:17443224

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

rs_1591834223

3 SubmittersRCV000991469 RCV002252290 RCV002253762 RCV004528325

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

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
Condition: not provided
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_562680077

3 SubmittersRCV001030758 RCV002245834 RCV003736960 RCV002245835

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

SNV
Germline

Chr11:17416949

Pathogenic/Likely pathogenic

Condition: not provided
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

rs_753296261

2 SubmittersRCV001051901 RCV003467766

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

SNV
Germline

Chr11:17470131

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_781617345

6 SubmittersRCV001058712 RCV001832528 RCV002497433 RCV003321793 RCV003462576

NM_000352.6(ABCC8):c.2368G>T (p.Glu790Ter)

SNV
Germline

Chr11:17414534

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_1317396512

1 SubmittersRCV001090230

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

SNV
Germline/somatic

Chr11:17395173

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_369810811

3 SubmittersRCV001105778 RCV001105779 RCV002245856 RCV002245855 RCV001105777 RCV003405315

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

SNV
Germline/somatic

Chr11:17404607

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_540122589

5 SubmittersRCV001107094 RCV001107095 RCV001107096 RCV001435820 RCV002245860 RCV001278394 RCV002245859 RCV004960457

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

SNV
Germline

Chr11:17406974

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1354438772

2 SubmittersRCV001104432 RCV001104431 RCV001104430 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

rs_763794263

2 SubmittersRCV001104713 RCV001104715 RCV001104714 RCV002555031

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

SNV
Germline

Chr11:17448579

Conflicting classifications of pathogenicity

Hyperinsulinemic hypoglycemia, familial, 1
Permanent neonatal diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Hereditary hyperinsulinism

Criteria Provided
Conflicting Classifications

rs_370169777

2 SubmittersRCV001102901 RCV001102900 RCV001102902 RCV001279196

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

SNV
Germline

Chr11:17460566

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_776498313

3 SubmittersRCV001105967 RCV001105966 RCV001105965 RCV002259549 RCV002287473 RCV003698828

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

SNV
Germline

Chr11:17461682

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_147276708

4 SubmittersRCV001103002 RCV001103003 RCV001103004 RCV002069716 RCV002253772 RCV002253771 RCV004659350

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

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

Criteria Provided
Conflicting Classifications

rs_755745806

3 SubmittersRCV001106071 RCV001108307 RCV001108306 RCV001419039 RCV002254198 RCV002254199

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

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

Criteria Provided
Conflicting Classifications

rs_374315114

4 SubmittersRCV001104036 RCV001104038 RCV001104037 RCV001277872 RCV002276625 RCV004538324

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

SNV
Germline

Chr11:17428414

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

rs_1218098329

3 SubmittersRCV001108016 RCV001108017 RCV001108015 RCV002069765 RCV002267077 RCV002267076

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

SNV
Germline

Chr11:17442712

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
not specified

Criteria Provided
Conflicting Classifications

rs_200053398

4 SubmittersRCV001104717 RCV001104718 RCV001104716 RCV001417995 RCV002267074 RCV002267075 RCV001819811

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

SNV
Germline

Chr11:17461832

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_771196330

3 SubmittersRCV001106070 RCV001104911 RCV001104912 RCV002254196 RCV002555034 RCV002254197

NM_000352.6(ABCC8):c.2971C>T (p.Gln991Ter)

SNV
Germline

Chr11:17407079

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_1954577994

2 SubmittersRCV001206341 RCV002251559 RCV002251558

NM_000352.6(ABCC8):c.2764C>T (p.Gln922Ter)

SNV
Germline

Chr11:17408448

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_1954644972

2 SubmittersRCV001208911 RCV002251561 RCV002251562

NM_000352.6(ABCC8):c.35C>A (p.Ser12Ter)

SNV
Germline

Chr11:17476742

Pathogenic

Condition: not provided
Familial hyperinsulinism

Criteria Provided
Multiple Submitters
No Conflicts

rs_1283621955

2 SubmittersRCV001212753 RCV001779134

NM_000352.6(ABCC8):c.4199-2A>G

SNV
Germline/somatic

Chr11:17395720

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_1953885548

2 SubmittersRCV001204869 RCV002245871 RCV002245872

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

SNV
Germline

Chr11:17442814

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_765090096

1 SubmittersRCV001233266

NM_000352.6(ABCC8):c.2057T>C (p.Phe686Ser)

SNV
Germline

Chr11:17427926

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_1159625966

1 SubmittersRCV001243690

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

SNV
Germline

Chr11:17427156

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1476853180

6 SubmittersRCV001236937 RCV001290585 RCV003321815 RCV004528430 RCV004570600

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

SNV
Germline/somatic

Chr11:17404615

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1954422814

2 SubmittersRCV001253090 RCV002245904 RCV002245903

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

SNV
Germline

Chr11:17410653

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1954765607

2 SubmittersRCV001255854 RCV002251564 RCV002251762

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

SNV
Unknown

Chr11:17427921

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1955658642

2 SubmittersRCV001262625 RCV002251568 RCV002251567

NM_000352.6(ABCC8):c.4713C>T (p.Ser1571=)

SNV
Germline/somatic

Chr11:17393024

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_747402972

3 SubmittersRCV001428015 RCV001277858 RCV002245914 RCV002245913

NM_000352.6(ABCC8):c.4119+10C>T

SNV
Germline/somatic

Chr11:17396906

Conflicting classifications of pathogenicity

Hereditary hyperinsulinism
Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

rs_201955628

4 SubmittersRCV001277865 RCV001450846 RCV002245923 RCV002245924 RCV004538553

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

SNV
Germline/somatic

Chr11:17396931

Conflicting classifications of pathogenicity

Hereditary hyperinsulinism
Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_1345535328

3 SubmittersRCV001277866 RCV001411378 RCV002245925 RCV002245926

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

SNV
Germline/somatic

Chr11:17397174

Conflicting classifications of pathogenicity

Hereditary hyperinsulinism
Maturity onset diabetes mellitus in young
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
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_576340695

4 SubmittersRCV001277867 RCV002246151 RCV002246152 RCV002499466 RCV003738031

NM_000352.6(ABCC8):c.3984C>T (p.Leu1328=)

SNV
Germline/somatic

Chr11:17397197

Conflicting classifications of pathogenicity

Hereditary hyperinsulinism
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

rs_368419322

5 SubmittersRCV001277868 RCV001463636 RCV002246154 RCV002246153 RCV002375322 RCV004526100

NM_000352.6(ABCC8):c.3654T>C (p.Tyr1218=)

SNV
Germline/somatic

Chr11:17398438

Conflicting classifications of pathogenicity

Hereditary hyperinsulinism
Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_769968875

3 SubmittersRCV001277870 RCV001391926 RCV002245927 RCV002245928

NM_000352.6(ABCC8):c.3651-4C>G

SNV
Germline/somatic

Chr11:17398445

Conflicting classifications of pathogenicity

Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1954058406

3 SubmittersRCV001277871 RCV002245930 RCV002245929 RCV002542885

NM_000352.6(ABCC8):c.3502T>C (p.Leu1168=)

SNV
Germline/somatic

Chr11:17404567

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_565968675

3 SubmittersRCV001426811 RCV001278392 RCV002245937 RCV002245936

NM_000352.6(ABCC8):c.3399+12C>T

SNV
Germline/somatic

Chr11:17405482

Conflicting classifications of pathogenicity

Hereditary hyperinsulinism
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_372561049

3 SubmittersRCV001278395 RCV003679056 RCV002245939 RCV002245938

NM_000352.6(ABCC8):c.3329+7G>A

SNV
Germline/somatic

Chr11:17406615

Conflicting classifications of pathogenicity

Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Hereditary hyperinsulinism
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_776313489

3 SubmittersRCV002250743 RCV002250742 RCV001278396 RCV001469794

NM_000352.6(ABCC8):c.2544C>T (p.Asn848=)

SNV
Germline/somatic

Chr11:17412678

Conflicting classifications of pathogenicity

Hereditary hyperinsulinism
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_144200345

3 SubmittersRCV001278407 RCV001452421 RCV002250748 RCV002245940

NM_000352.6(ABCC8):c.2391-5G>A

SNV
Germline

Chr11:17413483

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_370096884

3 SubmittersRCV001437239 RCV001278409 RCV002267089 RCV002267088

NM_000352.6(ABCC8):c.2259A>G (p.Pro753=)

SNV
Germline

Chr11:17415336

Conflicting classifications of pathogenicity

Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Hereditary hyperinsulinism
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1955020359

3 SubmittersRCV002251580 RCV002251579 RCV001278411 RCV002542894

NM_000352.6(ABCC8):c.2222+12A>G

SNV
Germline

Chr11:17427037

Conflicting classifications of pathogenicity

Hereditary hyperinsulinism
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_534103042

3 SubmittersRCV001278412 RCV002251582 RCV002251581 RCV002542895

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

SNV
Germline

Chr11:17427062

Conflicting classifications of pathogenicity

Hereditary hyperinsulinism
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_376206979

3 SubmittersRCV001278413 RCV001466630 RCV002251584 RCV002251583

NM_000352.6(ABCC8):c.1407A>C (p.Leu469=)

SNV
Germline

Chr11:17443238

Conflicting classifications of pathogenicity

Hereditary hyperinsulinism
Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_751643248

3 SubmittersRCV001279194 RCV001502516 RCV002253792 RCV002253791

NM_000352.6(ABCC8):c.942C>T (p.Phe314=)

SNV
Germline

Chr11:17460557

Conflicting classifications of pathogenicity

Hereditary hyperinsulinism
Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_768582290

3 SubmittersRCV001279199 RCV001499250 RCV002253793 RCV002254345

NM_000352.6(ABCC8):c.414C>T (p.Ala138=)

SNV
Germline

Chr11:17463603

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary disease
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_372766371

3 SubmittersRCV001478315 RCV001824171 RCV002254210 RCV002254209

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

SNV
Germline

Chr11:17474921

Conflicting classifications of pathogenicity

Hereditary hyperinsulinism
Maturity onset diabetes mellitus in young
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
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1323334420

4 SubmittersRCV001279208 RCV002254346 RCV002254347 RCV002486054 RCV002542919

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

SNV
Germline

Chr11:17412701

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1484689392

5 SubmittersRCV001290673 RCV001859230 RCV004556837 RCV003321823 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

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

rs_72559717

3 SubmittersRCV001376163 RCV001820080

NM_000352.6(ABCC8):c.4411+2T>C

SNV
Germline

Chr11:17395170

Likely pathogenic

Condition: not provided
Hereditary hyperinsulinism

Criteria Provided
Single Submitter

rs_1953843456

2 SubmittersRCV001376840 RCV001826122

NM_000352.6(ABCC8):c.4297G>A (p.Gly1433Ser)

SNV
Germline

Chr11:17395620

Pathogenic/Likely pathogenic

Condition: not provided
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

rs_781090024

3 SubmittersRCV001376864 RCV003473896

NM_000352.6(ABCC8):c.3651-1G>C

SNV
Germline

Chr11:17398442

Likely pathogenic

Condition: not provided
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

rs_768820409

2 SubmittersRCV001377334 RCV003462948

NM_000352.6(ABCC8):c.2475+1G>A

SNV
Germline

Chr11:17413393

Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_772026262

2 SubmittersRCV001376865

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

SNV
Germline

Chr11:17476627

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hyperinsulinism
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_1554949176

4 SubmittersRCV001378992 RCV001831363 RCV002253808 RCV002253809 RCV003462957

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

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

rs_751848086

3 SubmittersRCV001386536 RCV003321834

NM_000352.6(ABCC8):c.1617T>A (p.Tyr539Ter)

SNV
Germline

Chr11:17442733

Conflicting classifications of pathogenicity

Condition: not provided
Familial hyperinsulinism
Maturity onset diabetes mellitus in young
Type 2 diabetes mellitus
Neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_1591832463

4 SubmittersRCV001380991 RCV001824961 RCV002267110 RCV003473930 RCV004556840

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_760062120

5 SubmittersRCV001383753 RCV001826165 RCV002499797 RCV003469700 RCV004797943

NM_000352.6(ABCC8):c.790C>T (p.Gln264Ter)

SNV
Germline

Chr11:17461615

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_2133679133

1 SubmittersRCV001385575

NM_000352.6(ABCC8):c.428G>A (p.Trp143Ter)

SNV
Germline

Chr11:17463589

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_1395990892

1 SubmittersRCV001386146

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

SNV
Germline

Chr11:17448579

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_370169777

2 SubmittersRCV001393853 RCV002254350 RCV002253811

NM_000352.6(ABCC8):c.4368C>T (p.Ile1456=)

SNV
Germline

Chr11:17395215

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_193922403

2 SubmittersRCV001439630 RCV002286528 RCV002286527

NM_000352.6(ABCC8):c.3081G>A (p.Val1027=)

SNV
Germline

Chr11:17406969

Conflicting classifications of pathogenicity

Transitory neonatal diabetes mellitus
Condition: not provided
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_745860035

2 SubmittersRCV002251590 RCV001430630 RCV002251589

NM_000352.6(ABCC8):c.639G>A (p.Leu213=)

SNV
Germline

Chr11:17461766

Conflicting classifications of pathogenicity

Condition: not provided
Transitory neonatal diabetes mellitus
Inborn genetic diseases
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_1483834388

3 SubmittersRCV001438824 RCV002253814 RCV002358981 RCV002254351

NM_000352.6(ABCC8):c.2291+7C>T

SNV
Germline

Chr11:17415297

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_770152618

2 SubmittersRCV001470853 RCV002251591 RCV002251592

NM_000352.6(ABCC8):c.1767G>A (p.Pro589=)

SNV
Germline

Chr11:17430864

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_550788491

3 SubmittersRCV001468175 RCV002405099 RCV002267115 RCV002267114

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

SNV
Germline

Chr11:17396823

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

rs_4148644

4 SubmittersRCV001533265 RCV001533267 RCV001533264 RCV001533266 RCV001615252 RCV002285180 RCV002285181

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

SNV
Germline

Chr11:17414293

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_4148632

3 SubmittersRCV001533220 RCV001533221 RCV001533222 RCV001533282 RCV001615250 RCV002285176 RCV002285177

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

SNV
Germline

Chr11:17414389

Conflicting classifications of pathogenicity

Diabetes mellitus, permanent neonatal 3
Hyperinsulinemic hypoglycemia, familial, 1
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

rs_4148631

4 SubmittersRCV001533226 RCV001533224 RCV001533223 RCV001533225 RCV001615251 RCV002285178 RCV002285179

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

SNV
Germline

Chr11:17414419

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_4148630

4 SubmittersRCV001533227 RCV001533228 RCV001533229 RCV001533230 RCV001655817 RCV002286529 RCV002286530

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

SNV
Germline

Chr11:17415389

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_4148626

4 SubmittersRCV001533234 RCV001533231 RCV001533233 RCV001533232 RCV001707891 RCV002286531 RCV002286532

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

SNV
Germline

Chr11:17404606

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_759961510

4 SubmittersRCV001580618 RCV001580619 RCV002266006 RCV002495927 RCV002569104

NM_000352.6(ABCC8):c.4370C>T (p.Ala1457Val)

SNV
Germline

Chr11:17395213

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_2133398429

1 SubmittersRCV001580985

NM_000352.6(ABCC8):c.985A>T (p.Lys329Ter)

SNV
Germline

Chr11:17460514

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1957147183

2 SubmittersRCV001774809

NM_000352.6(ABCC8):c.494C>A (p.Ser165Ter)

SNV
Germline

Chr11:17463523

Pathogenic/Likely pathogenic

Condition: not provided
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

rs_758754046

3 SubmittersRCV001785195 RCV003475088

NM_000352.6(ABCC8):c.3961G>T (p.Glu1321Ter)

SNV
Germline

Chr11:17397220

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_1953981445

1 SubmittersRCV001780621

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

SNV
Germline

Chr11:17448659

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_199763382

4 SubmittersRCV001822202 RCV002274217 RCV002503312

NM_000352.6(ABCC8):c.1332+9T>C

SNV
Germline

Chr11:17448507

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_775059899

2 SubmittersRCV001822660 RCV002074363

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

rs_748233295

2 SubmittersRCV001822847 RCV003321873

NM_000352.6(ABCC8):c.4132G>A (p.Gly1378Ser)

SNV
Germline

Chr11:17395918

Pathogenic/Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_925231098

3 SubmittersRCV001817632

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

SNV
Germline

Chr11:17448665

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_542947894

3 SubmittersRCV001817637 RCV002545178

NM_000352.6(ABCC8):c.970G>A (p.Val324Met)

SNV
Germline

Chr11:17460529

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1328072266

3 SubmittersRCV001817713 RCV004040998

NM_000352.6(ABCC8):c.1773C>G (p.Phe591Leu)

SNV
Germline

Chr11:17430858

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_72559726

1 SubmittersRCV001817730

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

Criteria Provided
Conflicting Classifications

rs_1352191146

4 SubmittersRCV001817802 RCV003321874 RCV004526149

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

SNV
Germline

Chr11:17470200

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

rs_766068851

3 SubmittersRCV001817803

NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys)

SNV
Germline

Chr11:17395665

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_1468762603

3 SubmittersRCV001817825 RCV003155431

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

SNV
Germline

Chr11:17413396

Pathogenic

Condition: not provided
Permanent neonatal diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

rs_779736828

4 SubmittersRCV001817843 RCV004690140

NM_000352.6(ABCC8):c.4515C>G (p.Asp1505Glu)

SNV
Germline

Chr11:17394296

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_751591418

1 SubmittersRCV001817845

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

SNV
Germline

Chr11:17476701

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1462559571

3 SubmittersRCV001817862 RCV001844417 RCV003321875

NM_000352.6(ABCC8):c.4547A>G (p.Glu1516Gly)

SNV
Germline

Chr11:17393758

Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2133393241

2 SubmittersRCV001817867

NM_000352.6(ABCC8):c.625G>A (p.Asp209Asn)

SNV
Germline

Chr11:17461780

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_2133680501

1 SubmittersRCV001817886

NM_000352.6(ABCC8):c.4608+1G>A

SNV
Germline

Chr11:17393696

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_2133392952

1 SubmittersRCV001817887

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

rs_764950519

3 SubmittersRCV001817905 RCV003464152 RCV003321876

NM_000352.6(ABCC8):c.622G>A (p.Glu208Lys)

SNV
Germline

Chr11:17461783

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_2133680513

1 SubmittersRCV001817917

NM_000352.6(ABCC8):c.4513G>A (p.Asp1505Asn)

SNV
Germline

Chr11:17394298

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_2133394860

1 SubmittersRCV001817927

NM_000352.6(ABCC8):c.4225A>G (p.Ile1409Val)

SNV
Germline

Chr11:17395692

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_776100468

2 SubmittersRCV001817940 RCV003401741

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

SNV
Germline

Chr11:17470175

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2133711315

4 SubmittersRCV001817966 RCV002503329 RCV003464153

NM_000352.6(ABCC8):c.1011+1G>T

SNV
Germline

Chr11:17460487

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_2133673996

1 SubmittersRCV001817973

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

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

Criteria Provided
Conflicting Classifications

rs_568576108

4 SubmittersRCV001823662 RCV002542743 RCV002503332

NM_000352.6(ABCC8):c.1924-13A>G

SNV
Germline

Chr11:17428418

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_369865762

2 SubmittersRCV001844486 RCV003560872

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

SNV
Germline

Chr11:17394267

Pathogenic/Likely pathogenic

Condition: not provided
Type 2 diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Multiple Submitters
No Conflicts

rs_769989185

4 SubmittersRCV002004428 RCV002290835 RCV004699641

NM_000352.6(ABCC8):c.1369G>T (p.Gly457Ter)

SNV
Germline

Chr11:17443276

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_771959876

1 SubmittersRCV001867603

NM_000352.6(ABCC8):c.1453C>T (p.Gln485Ter)

SNV
Germline

Chr11:17443192

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_1956391008

1 SubmittersRCV001999786

NM_000352.6(ABCC8):c.503G>C (p.Arg168Pro)

SNV
Germline

Chr11:17463514

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_1002070797

1 SubmittersRCV002021933

NM_000352.6(ABCC8):c.290+1G>A

SNV
Germline

Chr11:17474885

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_2133728249

1 SubmittersRCV002021971

NM_000352.6(ABCC8):c.1003C>T (p.Gln335Ter)

SNV
Germline

Chr11:17460496

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_2133674070

1 SubmittersRCV001941737

NM_000352.6(ABCC8):c.3737G>T (p.Trp1246Leu)

SNV
Germline

Chr11:17398355

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_2133413622

1 SubmittersRCV001963974

NM_000352.6(ABCC8):c.4532T>A (p.Ile1511Asn)

SNV
Germline

Chr11:17394279

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_2133394768

1 SubmittersRCV002029876

NM_000352.6(ABCC8):c.332G>A (p.Gly111Glu)

SNV
Germline

Chr11:17470181

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_2133711374

1 SubmittersRCV002042485

NM_000352.6(ABCC8):c.2671C>T (p.Gln891Ter)

SNV
Germline

Chr11:17410539

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_2133460957

1 SubmittersRCV001949250

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

SNV
Germline

Chr11:17397191

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_745349258

3 SubmittersRCV001953915 RCV003321888 RCV003471186

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

SNV
Germline

Chr11:17476732

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_758231286

4 SubmittersRCV001910791 RCV002490136 RCV004538586 RCV003475146

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

SNV
Germline

Chr11:17415303

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_1160946320

1 SubmittersRCV001977147

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

SNV
Germline

Chr11:17404518

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

rs_137852675

2 SubmittersRCV002010847

NM_000352.6(ABCC8):c.1598T>C (p.Leu533Pro)

SNV
Germline

Chr11:17442752

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_1419269417

1 SubmittersRCV002045076

NM_000352.6(ABCC8):c.4478G>T (p.Arg1493Leu)

SNV
Germline

Chr11:17394333

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_746480424

1 SubmittersRCV001977692

NM_000352.6(ABCC8):c.2266G>T (p.Glu756Ter)

SNV
Germline

Chr11:17415329

Pathogenic

Condition: not provided
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

rs_751826777

2 SubmittersRCV001878800 RCV003464191

NM_000352.6(ABCC8):c.4372C>G (p.Gln1458Glu)

SNV
Germline

Chr11:17395211

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_2133398414

1 SubmittersRCV002004444

NM_000352.6(ABCC8):c.4411G>C (p.Asp1471His)

SNV
Germline

Chr11:17395172

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_72559716

1 SubmittersRCV001994621

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

rs_144481621

2 SubmittersRCV002034893 RCV003321879

NM_000352.6(ABCC8):c.4059C>A (p.Tyr1353Ter)

SNV
Germline

Chr11:17396976

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_374602183

1 SubmittersRCV001941862

NM_000352.6(ABCC8):c.863G>A (p.Trp288Ter)

SNV
Germline

Chr11:17460636

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_2133675152

1 SubmittersRCV001957902

NM_000352.6(ABCC8):c.655C>T (p.Gln219Ter)

SNV
Germline

Chr11:17461750

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_2133680142

1 SubmittersRCV001956413

NM_000352.6(ABCC8):c.696G>A (p.Trp232Ter)

SNV
Germline

Chr11:17461709

Pathogenic/Likely pathogenic

Condition: not provided
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

rs_2133679771

2 SubmittersRCV001899771 RCV003464178

NM_000352.6(ABCC8):c.2391-1G>A

SNV
Germline

Chr11:17413479

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_2133473953

1 SubmittersRCV001951349

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

SNV
Germline

Chr11:17463515

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_756823374

3 SubmittersRCV001951354 RCV003479377 RCV003321889

NM_000352.6(ABCC8):c.4478G>C (p.Arg1493Pro)

SNV
Germline

Chr11:17394333

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_746480424

1 SubmittersRCV002008751

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

SNV
Germline

Chr11:17463436

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_1449198328

1 SubmittersRCV002033509

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

SNV
Germline

Chr11:17412701

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_1484689392

2 SubmittersRCV001978196 RCV003317567

NM_000352.6(ABCC8):c.4258C>A (p.Arg1420Ser)

SNV
Germline

Chr11:17395659

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_28938469

1 SubmittersRCV001956958

NM_000352.6(ABCC8):c.634G>T (p.Asp212Tyr)

SNV
Germline

Chr11:17461771

Likely pathogenic

Neonatal diabetes mellitus

Criteria Provided
Single Submitter

rs_2133680409

1 SubmittersRCV002052021

NM_000352.6(ABCC8):c.643G>A (p.Val215Ile)

SNV
Germline

Chr11:17461762

Likely pathogenic

Neonatal diabetes mellitus

Criteria Provided
Single Submitter

rs_2133680286

1 SubmittersRCV002052022

NM_000352.6(ABCC8):c.1608T>A (p.Phe536Leu)

SNV
Germline

Chr11:17442742

Likely pathogenic

Neonatal diabetes mellitus

Criteria Provided
Single Submitter

rs_753618932

1 SubmittersRCV002052023

NM_000352.6(ABCC8):c.3788C>T (p.Ala1263Val)

SNV
Germline

Chr11:17397763

Conflicting classifications of pathogenicity

Neonatal diabetes mellitus
Condition: not provided
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

rs_772094360

3 SubmittersRCV002052025 RCV003332375 RCV004538754

NM_000352.6(ABCC8):c.4264T>A (p.Ser1422Thr)

SNV
Germline

Chr11:17395653

Likely pathogenic

Neonatal diabetes mellitus

Criteria Provided
Single Submitter

rs_2133401009

1 SubmittersRCV002052026

NM_000352.6(ABCC8):c.4610A>G (p.His1537Arg)

SNV
Germline

Chr11:17393127

Likely pathogenic

Neonatal diabetes mellitus

Criteria Provided
Single Submitter

rs_2133390317

1 SubmittersRCV002052027

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

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

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

rs_2133460799

1 SubmittersRCV002052039

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

SNV
Germline

Chr11:17415325

Conflicting classifications of pathogenicity

Condition: not provided
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

rs_757961130

4 SubmittersRCV002071454 RCV004543692

NM_000352.6(ABCC8):c.954G>C (p.Leu318=)

SNV
Germline

Chr11:17460545

Conflicting classifications of pathogenicity

Maturity onset diabetes mellitus in young
Condition: not provided
Transitory neonatal diabetes mellitus

Criteria Provided
Conflicting Classifications

rs_771014822

2 SubmittersRCV002259556 RCV002149847 RCV002259557

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

SNV
Germline

Chr11:17474968

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_764349043

6 SubmittersRCV002224395 RCV002487022 RCV004533977 RCV004770424

NM_000352.6(ABCC8):c.4307+13A>G

SNV
Germline/somatic

Chr11:17395597

Conflicting classifications of pathogenicity

Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_886048047

2 SubmittersRCV002244558 RCV002274249 RCV003738161

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

SNV
Somatic

Chr11:17396945

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_138642224

2 SubmittersRCV002245266 RCV002488625 RCV002274250

NM_000352.6(ABCC8):c.3681C>G (p.Leu1227=)

SNV
Germline/somatic

Chr11:17398411

Conflicting classifications of pathogenicity

Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_370636988

2 SubmittersRCV002245498 RCV002245499 RCV003660915

NM_000352.6(ABCC8):c.3558-7G>T

SNV
Somatic

Chr11:17402760

Conflicting classifications of pathogenicity

Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young

Criteria Provided
Conflicting Classifications

rs_900191703

1 SubmittersRCV002245500 RCV002274251

NM_000352.6(ABCC8):c.2556+1G>T

SNV
Germline/somatic

Chr11:17412665

Conflicting classifications of pathogenicity

Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_749271190

2 SubmittersRCV002245539 RCV002245540 RCV003718455

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

SNV
Germline

Chr11:17460553

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1201126343

4 SubmittersRCV002251095 RCV002496184 RCV003403755

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

rs_1957198348

2 SubmittersRCV003560894 RCV004577370

NM_000352.6(ABCC8):c.3087C>A (p.Ile1029=)

SNV
Germline

Chr11:17406963

Conflicting classifications of pathogenicity

Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376413488

2 SubmittersRCV002251699 RCV002274253 RCV003738166

NM_000352.6(ABCC8):c.3018C>A (p.Ser1006=)

SNV
Germline

Chr11:17407032

Conflicting classifications of pathogenicity

Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_149279510

2 SubmittersRCV002251703 RCV002251702 RCV003094101

NM_000352.6(ABCC8):c.145A>G (p.Ile49Val)

SNV
Germline

Chr11:17476632

Conflicting classifications of pathogenicity

Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1554949196

2 SubmittersRCV002254147 RCV002254146 RCV003101393

NM_000352.6(ABCC8):c.297C>A (p.Thr99=)

SNV
Germline

Chr11:17470216

Conflicting classifications of pathogenicity

Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_906180828

2 SubmittersRCV002254252 RCV002254251 RCV003774758

NM_000352.6(ABCC8):c.1833C>T (p.Ser611=)

SNV
Germline

Chr11:17428655

Conflicting classifications of pathogenicity

Transitory neonatal diabetes mellitus
Maturity onset diabetes mellitus in young
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_763273046

2 SubmittersRCV002267568 RCV002267567 RCV003774853

NM_000352.6(ABCC8):c.1716G>A (p.Ser572=)

SNV
Germline

Chr11:17430915

Conflicting classifications of pathogenicity

Maturity onset diabetes mellitus in young
Transitory neonatal diabetes mellitus
Condition: not provided
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

rs_750619309

3 SubmittersRCV002267569 RCV002267570 RCV003096073 RCV004534023

NM_000352.6(ABCC8):c.2147G>A (p.Gly716Asp)

SNV
Germline

Chr11:17427124

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_72559723

1 SubmittersRCV002279120

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

SNV
Germline

Chr11:17398338

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

1 SubmittersRCV004577372

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

SNV
Germline

Chr11:17408412

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003560929 RCV003471312 RCV004577373

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

SNV
Germline

Chr11:17395882

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

Criteria Provided
Conflicting Classifications

4 SubmittersRCV002465967 RCV002571393 RCV003464565

NM_000352.6(ABCC8):c.2292-16G>A

SNV
Germline

Chr11:17414626

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002510262 RCV002569430

NM_000352.6(ABCC8):c.4546-1G>A

SNV
Germline

Chr11:17393760

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003062337

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

SNV
Germline

Chr11:17394279

Pathogenic

Condition: not provided
Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

2 SubmittersRCV003062338 RCV003227081

NM_000352.6(ABCC8):c.4178G>T (p.Arg1393Leu)

SNV
Germline

Chr11:17395872

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003037372

NM_000352.6(ABCC8):c.4148G>A (p.Gly1383Glu)

SNV
Germline

Chr11:17395902

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003037373

NM_000352.6(ABCC8):c.3967G>A (p.Glu1323Lys)

SNV
Germline

Chr11:17397214

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003062339

NM_000352.6(ABCC8):c.3399+2T>C

SNV
Germline

Chr11:17405492

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003062340

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

SNV
Germline

Chr11:17410515

Pathogenic/Likely pathogenic

Condition: not provided
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003062341 RCV003459723

NM_000352.6(ABCC8):c.2264G>A (p.Arg755Gln)

SNV
Germline

Chr11:17415331

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003058288 RCV003058287

NM_000352.6(ABCC8):c.2204G>A (p.Gly735Glu)

SNV
Germline

Chr11:17427067

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003037374

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

2 SubmittersRCV003062344 RCV003321968

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

SNV
Germline

Chr11:17476758

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV003058290 RCV003317639 RCV003321969 RCV004529198

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

SNV
Germline

Chr11:17476776

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003062345

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

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003112211 RCV003475528

NM_000352.6(ABCC8):c.854G>A (p.Arg285Gln)

SNV
Germline

Chr11:17460645

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002978181 RCV003111734

NM_000352.6(ABCC8):c.1924-1G>C

SNV
Germline

Chr11:17428406

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV002600151

NM_000352.6(ABCC8):c.2475+2T>A

SNV
Germline

Chr11:17413392

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV002636001

NM_000352.6(ABCC8):c.822+2T>C

SNV
Germline

Chr11:17461581

Likely pathogenic

Condition: not provided
Type 2 diabetes mellitus
Familial hyperinsulinism

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002685508 RCV003465811 RCV004700804

NM_000352.6(ABCC8):c.20G>A (p.Gly7Asp)

SNV
Germline

Chr11:17476757

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002889171 RCV004700847

NM_000352.6(ABCC8):c.3545G>T (p.Arg1182Leu)

SNV
Germline

Chr11:17404524

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV002894028

NM_000352.6(ABCC8):c.4298G>A (p.Gly1433Asp)

SNV
Germline

Chr11:17395619

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV002857871

NM_000352.6(ABCC8):c.2390+1G>A

SNV
Germline

Chr11:17414511

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV002890102

NM_000352.6(ABCC8):c.2256-1G>T

SNV
Germline

Chr11:17415340

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV002943648

NM_000352.6(ABCC8):c.3737G>A (p.Trp1246Ter)

SNV
Germline

Chr11:17398355

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003033613

NM_000352.6(ABCC8):c.1924-2A>G

SNV
Germline

Chr11:17428407

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003048240

NM_000352.6(ABCC8):c.622G>T (p.Glu208Ter)

SNV
Germline

Chr11:17461783

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

1 SubmittersRCV002827594

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

SNV
Germline

Chr11:17428669

Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

1 SubmittersRCV003151472

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

2 SubmittersRCV003151531 RCV004786882

NM_000352.6(ABCC8):c.1011+1G>A

SNV
Germline

Chr11:17460487

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003154369

NM_000352.6(ABCC8):c.580-2A>G

SNV
Germline

Chr11:17461827

Likely pathogenic

Familial hyperinsulinism

Criteria Provided
Single Submitter

1 SubmittersRCV003226666

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

SNV
Germline

Chr11:17404518

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

1 SubmittersRCV003322255

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

SNV
Germline

Chr11:17395658

Likely pathogenic

Hyperinsulinemic hypoglycemia, familial, 1
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003322256 RCV003466058

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

SNV
Germline

Chr11:17396921

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

1 SubmittersRCV003322258

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

SNV
Germline

Chr11:17396959

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003322259 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

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

1 SubmittersRCV003322262

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

SNV
Germline

Chr11:17404629

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

4 SubmittersRCV003322263 RCV003466060 RCV004736333 RCV004719319

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

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

1 SubmittersRCV003322268

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

SNV
Germline

Chr11:17427120

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

1 SubmittersRCV003322271

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

SNV
Germline

Chr11:17394358

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

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

2 SubmittersRCV003322273 RCV004763649

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

SNV
Germline

Chr11:17476628

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

1 SubmittersRCV003322277

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

SNV
Germline

Chr11:17476722

Pathogenic

Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Single Submitter

1 SubmittersRCV003322281

NM_000352.6(ABCC8):c.4538T>C (p.Met1513Thr)

SNV
Germline

Chr11:17394273

Likely pathogenic

ABCC8-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV004534276

NM_000352.6(ABCC8):c.917G>T (p.Arg306Leu)

SNV
Germline

Chr11:17460582

Conflicting classifications of pathogenicity

Condition: not provided
ABCC8-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003720881 RCV004529660

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

SNV
Germline

Chr11:17427156

Pathogenic

ABCC8-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV004528542

NM_000352.6(ABCC8):c.84G>A (p.Val28=)

SNV
Germline

Chr11:17476693

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003397955

NM_000352.6(ABCC8):c.1817+1G>A

SNV
Unknown

Chr11:17430813

Likely pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV003470049

NM_000352.6(ABCC8):c.2654T>A (p.Leu885Ter)

SNV
Unknown

Chr11:17410556

Likely pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV003470113

NM_000352.6(ABCC8):c.160C>T (p.Gln54Ter)

SNV
Unknown

Chr11:17475016

Pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV003463460

NM_000352.6(ABCC8):c.3162+2T>A

SNV
Unknown

Chr11:17406886

Likely pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV003471849

NM_000352.6(ABCC8):c.2040+1G>A

SNV
Unknown

Chr11:17428288

Likely pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV003471690

NM_000352.6(ABCC8):c.96C>G (p.Asn32Lys)

SNV
Germline

Chr11:17476681

Pathogenic

Type 2 diabetes mellitus
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003463382 RCV003553964

NM_000352.6(ABCC8):c.3330-1G>C

SNV
Unknown

Chr11:17405564

Likely pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV003461659

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

SNV
Germline

Chr11:17395679

Pathogenic

Type 2 diabetes mellitus
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003463196 RCV003553959

NM_000352.6(ABCC8):c.3329+1G>A

SNV
Unknown

Chr11:17406621

Likely pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV003471612

NM_000352.6(ABCC8):c.4545+2T>C

SNV
Unknown

Chr11:17394264

Likely pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV003471635

NM_000352.6(ABCC8):c.4414G>A (p.Ala1472Thr)

SNV
Unknown

Chr11:17394397

Pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV003471649

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

SNV
Germline

Chr11:17412725

Pathogenic/Likely pathogenic

Type 2 diabetes mellitus
Hyperinsulinemic hypoglycemia, familial, 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003476601 RCV004596587

NM_000352.6(ABCC8):c.2557-2A>G

SNV
Unknown

Chr11:17410655

Likely pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV003476614

NM_000352.6(ABCC8):c.2140C>T (p.Gln714Ter)

SNV
Unknown

Chr11:17427131

Likely pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV003463552

NM_000352.6(ABCC8):c.1817+1G>C

SNV
Unknown

Chr11:17430813

Pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV003460047

NM_000352.6(ABCC8):c.1822C>T (p.Gln608Ter)

SNV
Unknown

Chr11:17428666

Pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV003460107

NM_000352.6(ABCC8):c.1289G>A (p.Trp430Ter)

SNV
Unknown

Chr11:17448559

Pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV003470267

NM_000352.6(ABCC8):c.3329+2T>C

SNV
Unknown

Chr11:17406620

Pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV003463105

NM_000352.6(ABCC8):c.580A>T (p.Arg194Ter)

SNV
Unknown

Chr11:17461825

Likely pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV003466331

NM_000352.6(ABCC8):c.4412-2A>C

SNV
Unknown

Chr11:17394401

Likely pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV003472577

NM_000352.6(ABCC8):c.4181T>G (p.Met1394Arg)

SNV
Germline

Chr11:17395869

Likely pathogenic

Type 2 diabetes mellitus
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003472771 RCV003553966

NM_000352.6(ABCC8):c.2676C>G (p.Tyr892Ter)

SNV
Unknown

Chr11:17410534

Likely pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV003472798

NM_000352.6(ABCC8):c.1914C>A (p.Tyr638Ter)

SNV
Germline

Chr11:17428574

Pathogenic/Likely pathogenic

Type 2 diabetes mellitus
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003472873 RCV003679225

NM_000352.6(ABCC8):c.149-2A>T

SNV
Unknown

Chr11:17475029

Likely pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV003472891

NM_000352.6(ABCC8):c.1818-2A>C

SNV
Germline

Chr11:17428672

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003543161

NM_000352.6(ABCC8):c.3650+1G>T

SNV
Germline

Chr11:17402660

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003550606

NM_000352.6(ABCC8):c.3568C>T (p.Gln1190Ter)

SNV
Germline

Chr11:17402743

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003555053

NM_000352.6(ABCC8):c.4661G>A (p.Gly1554Asp)

SNV
Germline

Chr11:17393076

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003557567

NM_000352.6(ABCC8):c.2064G>A (p.Trp688Ter)

SNV
Germline

Chr11:17427919

Pathogenic

Condition: not provided
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003557571 RCV004574103

NM_000352.6(ABCC8):c.2056T>A (p.Phe686Ile)

SNV
Germline

Chr11:17427927

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003557573

NM_000352.6(ABCC8):c.1473T>G (p.Tyr491Ter)

SNV
Germline

Chr11:17442877

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003557574

NM_000352.6(ABCC8):c.429G>A (p.Trp143Ter)

SNV
Germline

Chr11:17463588

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003557575

NM_000352.6(ABCC8):c.298G>T (p.Glu100Ter)

SNV
Germline

Chr11:17470215

Pathogenic

Condition: not provided
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003557576 RCV004574104

NM_000352.6(ABCC8):c.80T>C (p.Phe27Ser)

SNV
Germline

Chr11:17476697

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003557578

NM_000352.6(ABCC8):c.4177C>G (p.Arg1393Gly)

SNV
Germline

Chr11:17395873

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003566518

NM_000352.6(ABCC8):c.2475+1G>T

SNV
Germline

Chr11:17413393

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003563430

NM_000352.6(ABCC8):c.1818-1G>A

SNV
Germline

Chr11:17428671

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003567050

NM_000352.6(ABCC8):c.3784G>C (p.Ala1262Pro)

SNV
Germline

Chr11:17397767

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003573967

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

SNV
Germline

Chr11:17448672

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003578680

NM_000352.6(ABCC8):c.4376T>C (p.Leu1459Pro)

SNV
Germline

Chr11:17395207

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003665258

NM_000352.6(ABCC8):c.1068C>G (p.Tyr356Ter)

SNV
Germline

Chr11:17453227

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003665578

NM_000352.6(ABCC8):c.67A>C (p.Asn23His)

SNV
Germline

Chr11:17476710

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003665579

NM_000352.6(ABCC8):c.19G>T (p.Gly7Cys)

SNV
Germline

Chr11:17476758

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003665580

NM_000352.6(ABCC8):c.2941G>T (p.Glu981Ter)

SNV
Germline

Chr11:17407109

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003674334

NM_000352.6(ABCC8):c.4545+1G>C

SNV
Germline

Chr11:17394265

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003680243

NM_000352.6(ABCC8):c.3738G>A (p.Trp1246Ter)

SNV
Germline

Chr11:17398354

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003680394

NM_000352.6(ABCC8):c.2031C>A (p.Cys677Ter)

SNV
Germline

Chr11:17428298

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003713887

NM_000352.6(ABCC8):c.579+1G>A

SNV
Germline

Chr11:17463437

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003711757

NM_000352.6(ABCC8):c.3095G>A (p.Trp1032Ter)

SNV
Germline

Chr11:17406955

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003680975

NM_000352.6(ABCC8):c.2T>C (p.Met1Thr)

SNV
Germline

Chr11:17476775

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003681280

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

SNV
Germline

Chr11:17395903

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003686414

NM_000352.6(ABCC8):c.3283A>T (p.Arg1095Ter)

SNV
Germline

Chr11:17406668

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003689613

NM_000352.6(ABCC8):c.685A>G (p.Thr229Ala)

SNV
Germline

Chr11:17461720

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003691222

NM_000352.6(ABCC8):c.3038C>A (p.Ser1013Ter)

SNV
Germline

Chr11:17407012

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003692871

NM_000352.6(ABCC8):c.4429G>C (p.Gly1477Arg)

SNV
Germline

Chr11:17394382

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003701618

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

SNV
Germline

Chr11:17393076

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003693258

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

SNV
Germline

Chr11:17397683

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003702193

NM_000352.6(ABCC8):c.95A>G (p.Asn32Ser)

SNV
Germline

Chr11:17476682

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003734879

NM_000352.6(ABCC8):c.398C>G (p.Pro133Arg)

SNV
Germline

Chr11:17470115

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003821895

NM_000352.6(ABCC8):c.1960G>T (p.Glu654Ter)

SNV
Germline

Chr11:17428369

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003842942

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

SNV
Germline

Chr11:17442773

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003849048

NM_000352.6(ABCC8):c.1502A>C (p.Glu501Ala)

SNV
Germline

Chr11:17442848

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003854318

NM_000352.6(ABCC8):c.61G>T (p.Val21Phe)

SNV
Germline

Chr11:17476716

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV003875905

NM_000352.6(ABCC8):c.1672-13C>A

SNV
Germline

Chr11:17430972

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003873371 RCV004690491

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

SNV
Germline

Chr11:17394379

Pathogenic

Familial hyperinsulinism

Criteria Provided
Single Submitter

1 SubmittersRCV004526403

NM_000352.6(ABCC8):c.2806C>T (p.Gln936Ter)

SNV
Unknown

Chr11:17408406

Pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV004576296

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

SNV
Unknown

Chr11:17396915

Likely pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV004574420

NM_000352.6(ABCC8):c.585C>A (p.Tyr195Ter)

SNV
Unknown

Chr11:17461820

Likely pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV004574425

NM_000352.6(ABCC8):c.2256-1G>A

SNV
Unknown

Chr11:17415340

Likely pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV004576394

NM_000352.6(ABCC8):c.3452C>A (p.Ser1151Ter)

SNV
Unknown

Chr11:17404617

Likely pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV004576609

NM_000352.6(ABCC8):c.580-2A>T

SNV
Unknown

Chr11:17461827

Likely pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV004576691

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

SNV
Unknown

Chr11:17413399

Pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV004576758

NM_000352.6(ABCC8):c.864G>A (p.Trp288Ter)

SNV
Unknown

Chr11:17460635

Likely pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV004576858

NM_000352.6(ABCC8):c.1468G>T (p.Glu490Ter)

SNV
Germline

Chr11:17442882

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004585688

NM_000352.6(ABCC8):c.2609C>T (p.Ala870Val)

SNV
Germline

Chr11:17410601

Pathogenic

Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV004720595

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.4539G>T (p.Met1513Ile)

SNV
Germline

Chr11:17394272

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004778210