| - GRCh37:
- Chr11:17409228
- GRCh38:
- Chr11:17387681
| KCNJ11 | M137I, M50I | Diabetes mellitus, transient neonatal, 3, Type II diabetes mellitus, Maturity-onset diabetes of the young type 13, Hyperinsulinemic hypoglycemia, familial, 2, Diabetes mellitus, permanent neonatal 2, not provided
| Uncertain significance (May 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17408533
- GRCh38:
- Chr11:17386986
| KCNJ11 | R282L, R369L | Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13, Diabetes mellitus, permanent neonatal 2, Hyperinsulinemic hypoglycemia, familial, 2, Type II diabetes mellitus, not specified
| Uncertain significance (Dec 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17409286
- GRCh38:
- Chr11:17387739
| KCNJ11 | S118L, S31L | Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13, Diabetes mellitus, permanent neonatal 2, Hyperinsulinemic hypoglycemia, familial, 2, Type II diabetes mellitus, not specified
| Uncertain significance (Jan 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17409538
- GRCh38:
- Chr11:17387991
| KCNJ11 | R34H | Hyperinsulinemic hypoglycemia, familial, 2, Diabetes mellitus, transient neonatal, 3, Diabetes mellitus, permanent neonatal 2, Maturity-onset diabetes of the young type 13, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 2, not provided | Pathogenic/Likely pathogenic (May 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17409540
- GRCh38:
- Chr11:17387993
| KCNJ11 | | Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 2, Diabetes mellitus, permanent neonatal 2, not provided
| Likely benign (Oct 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17409189
- GRCh38:
- Chr11:17387642
| KCNJ11 | | Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 2, Diabetes mellitus, permanent neonatal 2, not provided
| Likely benign (Sep 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17409572-17409573
- GRCh38:
- Chr11:17388025-17388026
| KCNJ11 | K23E | Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 2, Diabetes mellitus, permanent neonatal 2, not provided
| Likely benign (Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17408698
- GRCh38:
- Chr11:17387151
| KCNJ11 | R227H, R314H | Permanent neonatal diabetes mellitus 1, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13, Hyperinsulinemic hypoglycemia, familial, 2, Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 2 | Uncertain significance (Apr 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17409100
- GRCh38:
- Chr11:17387553
| KCNJ11 | T93N, T180N | Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3 | Uncertain significance (May 9, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17408836
- GRCh38:
- Chr11:17387289
| KCNJ11 | Y268F, Y181F | Diabetes mellitus, transient neonatal, 3 | Uncertain significance (Jun 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17409167
- GRCh38:
- Chr11:17387620
| KCNJ11 | M158L, M71L | Diabetes mellitus, transient neonatal, 3 | Uncertain significance (Sep 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17408734
- GRCh38:
- Chr11:17387187
| KCNJ11 | T215I, T302I | Diabetes mellitus, transient neonatal, 3, Diabetes mellitus, permanent neonatal 2, Maturity-onset diabetes of the young type 13, Hyperinsulinemic hypoglycemia, familial, 2, Type II diabetes mellitus | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17409629
- GRCh38:
- Chr11:17388082
| KCNJ11 | R4C | Diabetes mellitus, transient neonatal, 3, Diabetes mellitus, permanent neonatal 2, Maturity-onset diabetes of the young type 13, Hyperinsulinemic hypoglycemia, familial, 2, Type II diabetes mellitus, Maturity onset diabetes mellitus in young
| Uncertain significance (Feb 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17408595
- GRCh38:
- Chr11:17387048
| KCNJ11 | Q261H, Q348H | Monogenic diabetes, Transitory neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3, Diabetes mellitus, permanent neonatal 2, Hyperinsulinemic hypoglycemia, familial, 2, Type II diabetes mellitus, Maturity-onset diabetes of the young type 13 | Uncertain significance (Oct 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17407617
- GRCh38:
- Chr11:17386070
| KCNJ11 | | Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 13, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2 | Uncertain significance (Jan 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17409675
- GRCh38:
- Chr11:17388128
| KCNJ11 | | Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 13, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2 | Uncertain significance (Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17407429
- GRCh38:
- Chr11:17385882
| KCNJ11 | | Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13, Hyperinsulinemic hypoglycemia, familial, 2 | Uncertain significance (Jan 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17409548
- GRCh38:
- Chr11:17388001
| KCNJ11 | R31W | Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 13, not provided, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2 | Uncertain significance (Dec 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17410062
- GRCh38:
- Chr11:17388515
| KCNJ11 | | Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 13, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2 | Uncertain significance (Jan 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17409483
- GRCh38:
- Chr11:17387936
| KCNJ11 | | Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 13, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2 | Uncertain significance (Mar 16, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17409188
- GRCh38:
- Chr11:17387641
| KCNJ11 | V151M, V64M | Maturity-onset diabetes of the young type 13, Hyperinsulinemic hypoglycemia, familial, 2, Diabetes mellitus, transient neonatal, 3, Type II diabetes mellitus | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17408467
- GRCh38:
- Chr11:17386920
| KCNJ11 | | Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 13, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2 | Uncertain significance (Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17407700
- GRCh38:
- Chr11:17386153
| KCNJ11 | | Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Maturity-onset diabetes of the young type 13, not provided | Conflicting interpretations of pathogenicity (May 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17407624
- GRCh38:
- Chr11:17386077
| KCNJ11 | | Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 13, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2 | Uncertain significance (Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17407618
- GRCh38:
- Chr11:17386071
| KCNJ11 | | Maturity-onset diabetes of the young type 13, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2 | Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17407246
- GRCh38:
- Chr11:17385699
| KCNJ11 | | Maturity-onset diabetes of the young type 13, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2 | Uncertain significance (Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17407051
- GRCh38:
- Chr11:17385504
| KCNJ11 | | Maturity-onset diabetes of the young type 13, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17408820
- GRCh38:
- Chr11:17387273
| KCNJ11 | | Maturity-onset diabetes of the young type 13, not provided, Hyperinsulinemic hypoglycemia, familial, 2, Diabetes mellitus, transient neonatal, 3 | Conflicting interpretations of pathogenicity (Oct 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17409232
- GRCh38:
- Chr11:17387685
| KCNJ11 | R136H, R49H | Maturity onset diabetes mellitus in young, Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, not provided | Conflicting interpretations of pathogenicity (Apr 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17408842
- GRCh38:
- Chr11:17387295
| KCNJ11 | P266L, P179L | Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young | Uncertain significance (Apr 6, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17409348-17409349
- GRCh38:
- Chr11:17387801-17387802
| KCNJ11 | H97fs, H10fs | Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young | Conflicting interpretations of pathogenicity (Apr 3, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17409539
- GRCh38:
- Chr11:17387992
| KCNJ11 | R34C | Monogenic diabetes, not provided, Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2 | Pathogenic/Likely pathogenic (Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17409141
- GRCh38:
- Chr11:17387594
| KCNJ11 | C166*, C79* | Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young | Conflicting interpretations of pathogenicity (Mar 14, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17408977
- GRCh38:
- Chr11:17387430
| KCNJ11 | R221H, R134H | Diabetes mellitus, transient neonatal, 3, Permanent neonatal diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 2, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 2, Maturity-onset diabetes of the young type 13, not provided, Inborn genetic diseases, Hyperinsulinemia ...see more | Uncertain significance (Apr 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17409022
- GRCh38:
- Chr11:17387475
| KCNJ11 | R206L, R119L | Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Hypoglycemia | Conflicting interpretations of pathogenicity (Jan 16, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17409273-17409276
- GRCh38:
- Chr11:17387726-17387729
| KCNJ11 | L35fs, L122fs | Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young | Conflicting interpretations of pathogenicity (Jan 10, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17409112
- GRCh38:
- Chr11:17387565
| KCNJ11 | R176H, R89H | Diabetes mellitus, transient neonatal, 3, Permanent neonatal diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 2, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 2, Maturity-onset diabetes of the young type 13, Maturity onset diabetes mellitus in young
| Uncertain significance (Mar 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17408796-17408798
- GRCh38:
- Chr11:17387249-17387251
| KCNJ11 | L281del, L194del | Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young | Uncertain significance (Dec 22, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17408920-17408921
- GRCh38:
- Chr11:17387373-17387374
| KCNJ11 | M153fs, M240fs | Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, KCNJ11-Related Disorders, Maturity onset diabetes mellitus in young | Conflicting interpretations of pathogenicity (Oct 17, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17408574-17408575
- GRCh38:
- Chr11:17387027-17387028
| KCNJ11 | L356fs, L269fs | Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young | Conflicting interpretations of pathogenicity (Nov 27, 2017) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17408527
- GRCh38:
- Chr11:17386980
| KCNJ11 | R371H, R284H | Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young | Uncertain significance (Sep 27, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17409375
- GRCh38:
- Chr11:17387828
| KCNJ11 | M88I, M1I | Maturity onset diabetes mellitus in young, Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2 | Uncertain significance (Sep 13, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17409692
- GRCh38:
- Chr11:17388145
| KCNJ11 | | Diabetes mellitus, transient neonatal, 3, Permanent neonatal diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 2, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 2, Maturity-onset diabetes of the young type 13, Maturity onset diabetes mellitus in young
| Uncertain significance (Mar 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17408599
- GRCh38:
- Chr11:17387052
| KCNJ11 | R347H, R260H | Inborn genetic diseases, not provided, Diabetes mellitus, transient neonatal, 3, Permanent neonatal diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 2, Hyperinsulinemic hypoglycemia, familial, 2, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 2, Maturity-onset diabetes of the young type 13Maturity-onset diabetes of the young type 13, Monogenic diabetes, not specified, Maturity onset diabetes mellitus in young, ...see more | Uncertain significance (Feb 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17408867-17408868
- GRCh38:
- Chr11:17387320-17387321
| KCNJ11 | Y258fs, Y171fs | Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young | Conflicting interpretations of pathogenicity (Jul 25, 2017) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17408786
- GRCh38:
- Chr11:17387239
| KCNJ11 | V285I, V198I | Maturity onset diabetes mellitus in young, not provided, Diabetes mellitus, transient neonatal, 3, Permanent neonatal diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 2, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 2, Maturity-onset diabetes of the young type 13 | Uncertain significance (Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17409064
- GRCh38:
- Chr11:17387517
| KCNJ11 | R192H, R105H | Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Permanent neonatal diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 2, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 2, Maturity-onset diabetes of the young type 13
| Conflicting interpretations of pathogenicity (Aug 23, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17409337
- GRCh38:
- Chr11:17387790
| KCNJ11 | A101D, A14D | Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, not provided, Maturity onset diabetes mellitus in young, Hyperinsulinemic hypoglycemia, familial, 2, Maturity-onset diabetes of the young type 13 | Conflicting interpretations of pathogenicity (Apr 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17409347
- GRCh38:
- Chr11:17387800
| KCNJ11 | G98S, G11S | Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Permanent neonatal diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 2, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 2, Maturity-onset diabetes of the young type 13
| Uncertain significance (May 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17408545
- GRCh38:
- Chr11:17386998
| KCNJ11 | R365H, R278H | Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young | Uncertain significance (Aug 4, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17409520
- GRCh38:
- Chr11:17387973
| KCNJ11 | G40D | KCNJ11-related condition, Maturity onset diabetes mellitus in young, Hyperinsulinemic hypoglycemia, familial, 2, Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3 | Conflicting interpretations of pathogenicity (Oct 11, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17409079
- GRCh38:
- Chr11:17387532
| KCNJ11 | A187V, A100V | Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, not provided, Maturity onset diabetes mellitus in young | Conflicting interpretations of pathogenicity (Dec 22, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17408669
- GRCh38:
- Chr11:17387122
| KCNJ11 | G324R, G237R | Diabetes mellitus, transient neonatal, 3, Permanent neonatal diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 2, Type II diabetes mellitus | Conflicting interpretations of pathogenicity (Mar 8, 2017) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17409772-17409773
- GRCh38:
- Chr11:17388225-17388226
| KCNJ11 | | Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young | Uncertain significance (Jan 26, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17408623
- GRCh38:
- Chr11:17387076
| KCNJ11 | V339G, V252G | KCNJ11-related condition, Maturity-onset diabetes of the young type 13, Hyperinsulinemic hypoglycemia, familial, 2, Type II diabetes mellitus, Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3, Maturity onset diabetes mellitus in young, Hyperinsulinemic hypoglycemia, familial, 2, Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3 | Uncertain significance (Oct 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17409592
- GRCh38:
- Chr11:17388045
| KCNJ11 | R16H | Type II diabetes mellitus, Maturity-onset diabetes of the young type 13, Diabetes mellitus, permanent neonatal 2, Hyperinsulinemic hypoglycemia, familial, 2, Diabetes mellitus, transient neonatal, 3, Maturity onset diabetes mellitus in young, not provided | Uncertain significance (Dec 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17408666
- GRCh38:
- Chr11:17387119
| KCNJ11 | R325S, R238S | Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Permanent neonatal diabetes mellitus, Type II diabetes mellitus, Maturity-onset diabetes of the young type 13, not specified
| Uncertain significance (Oct 31, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17409233
- GRCh38:
- Chr11:17387686
| KCNJ11 | R136C, R49C | not provided, Hyperinsulinemic hypoglycemia, familial, 2, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Type II diabetes mellitus, Maturity-onset diabetes of the young type 13, Diabetes mellitus, permanent neonatal 2 | Pathogenic/Likely pathogenic (Feb 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17410197
- GRCh38:
- Chr11:17388650
| ABCC8, KCNJ11 | | Hyperinsulinism, Dominant/Recessive, not specified, Hyperinsulinemic hypoglycemia, familial, 2, Transient Neonatal Diabetes, Dominant, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13, Permanent neonatal diabetes mellitus | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17410184
- GRCh38:
- Chr11:17388637
| KCNJ11 | | Hyperinsulinemic hypoglycemia, familial, 2, Maturity-onset diabetes of the young type 13, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3 | Uncertain significance (Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17410153
- GRCh38:
- Chr11:17388606
| KCNJ11 | | Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13 | Uncertain significance (Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17410136
- GRCh38:
- Chr11:17388589
| ABCC8, KCNJ11 | | Hyperinsulinism, Dominant/Recessive, Hyperinsulinemic hypoglycemia, familial, 2, Transient Neonatal Diabetes, Dominant, not specified, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13, Permanent neonatal diabetes mellitus | Conflicting interpretations of pathogenicity (Mar 2, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17409817
- GRCh38:
- Chr11:17388270
| KCNJ11 | | Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13 | Uncertain significance (Jan 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17409792
- GRCh38:
- Chr11:17388245
| ABCC8, KCNJ11 | | Hyperinsulinism, Dominant/Recessive, Hyperinsulinemic hypoglycemia, familial, 2, Transient Neonatal Diabetes, Dominant, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13, Permanent neonatal diabetes mellitus | Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17409788
- GRCh38:
- Chr11:17388241
| KCNJ11 | | Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Maturity-onset diabetes of the young type 13, Diabetes mellitus, transient neonatal, 3, Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 2, Hyperinsulinemic hypoglycemia, familial, 2, Maturity-onset diabetes of the young type 13
| Uncertain significance (Apr 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17409114
- GRCh38:
- Chr11:17387567
| KCNJ11 | H175Q, H88Q | Hyperinsulinemic hypoglycemia, familial, 2, Maturity-onset diabetes of the young type 13, Diabetes mellitus, transient neonatal, 3
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:17408898
- GRCh38:
- Chr11:17387351
| KCNJ11 | | Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13, not provided | Conflicting interpretations of pathogenicity (Sep 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17408835
- GRCh38:
- Chr11:17387288
| KCNJ11 | | Maturity onset diabetes mellitus in young, not provided, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13, Hyperinsulinemic hypoglycemia, familial, 2 | Conflicting interpretations of pathogenicity (Sep 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17408605
- GRCh38:
- Chr11:17387058
| KCNJ11 | T345M, T258M | Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13 | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17408426
- GRCh38:
- Chr11:17386879
| KCNJ11 | | Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13 | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17408416
- GRCh38:
- Chr11:17386869
| KCNJ11 | | Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13 | Uncertain significance (Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17408404
- GRCh38:
- Chr11:17386857
| KCNJ11 | | Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 13, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2 | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17408390
- GRCh38:
- Chr11:17386843
| KCNJ11 | | not provided, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Maturity-onset diabetes of the young type 13, Maturity onset diabetes mellitus in young | Conflicting interpretations of pathogenicity (Nov 16, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17408374
- GRCh38:
- Chr11:17386827
| KCNJ11 | | not provided, Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13 | Conflicting interpretations of pathogenicity (Dec 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17408367
- GRCh38:
- Chr11:17386820
| KCNJ11 | | Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13, Hyperinsulinemic hypoglycemia, familial, 2 | Uncertain significance (Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17408251
- GRCh38:
- Chr11:17386704
| KCNJ11 | | not provided, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Type II diabetes mellitus, Maturity-onset diabetes of the young type 13 | Benign/Likely benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17408248
- GRCh38:
- Chr11:17386701
| KCNJ11 | | Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Hyperinsulinemic hypoglycemia, familial, 2, Maturity-onset diabetes of the young type 13, Diabetes mellitus, transient neonatal, 3, Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 2, Maturity-onset diabetes of the young type 13
| Uncertain significance (May 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17408178
- GRCh38:
- Chr11:17386631
| KCNJ11 | | Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13, not provided | Conflicting interpretations of pathogenicity (Jun 30, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17408155
- GRCh38:
- Chr11:17386608
| KCNJ11 | | Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13 | Uncertain significance (Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17408090
- GRCh38:
- Chr11:17386543
| KCNJ11 | | not provided, Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13 | Conflicting interpretations of pathogenicity (May 13, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17408025
- GRCh38:
- Chr11:17386478
| KCNJ11 | | Maturity-onset diabetes of the young type 13, not provided, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Type II diabetes mellitus | Conflicting interpretations of pathogenicity (May 12, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17407979
- GRCh38:
- Chr11:17386432
| KCNJ11 | | Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13, not provided | Conflicting interpretations of pathogenicity (Oct 24, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17407937
- GRCh38:
- Chr11:17386390
| KCNJ11 | | Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13 | Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17407920
- GRCh38:
- Chr11:17386373
| KCNJ11 | | Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 13, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2 | Uncertain significance (Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17407788
- GRCh38:
- Chr11:17386241
| KCNJ11 | | Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 13, Diabetes mellitus, transient neonatal, 3 | Uncertain significance (Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17407780
- GRCh38:
- Chr11:17386233
| KCNJ11 | | Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13 | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17407769
- GRCh38:
- Chr11:17386222
| KCNJ11 | | Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13 | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17407765
- GRCh38:
- Chr11:17386218
| KCNJ11 | | Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13 | Uncertain significance (Jan 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17407734
- GRCh38:
- Chr11:17386187
| KCNJ11 | | Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Maturity-onset diabetes of the young type 13 | Uncertain significance (Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17407604
- GRCh38:
- Chr11:17386057
| KCNJ11 | | Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Maturity-onset diabetes of the young type 13 | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17407529
- GRCh38:
- Chr11:17385982
| KCNJ11 | | Hyperinsulinemic hypoglycemia, familial, 2, Maturity-onset diabetes of the young type 13, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3 | Uncertain significance (Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17407411
- GRCh38:
- Chr11:17385864
| KCNJ11 | | Hyperinsulinemic hypoglycemia, familial, 2, Maturity-onset diabetes of the young type 13, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3 | Uncertain significance (Jan 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17407298
- GRCh38:
- Chr11:17385751
| KCNJ11 | | Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, not provided, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13 | Conflicting interpretations of pathogenicity (Nov 2, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17407269
- GRCh38:
- Chr11:17385722
| KCNJ11 | | Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Maturity-onset diabetes of the young type 13, not provided | Conflicting interpretations of pathogenicity (Jun 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17406904
- GRCh38:
- Chr11:17385357
| KCNJ11 | | Hyperinsulinemic hypoglycemia, familial, 2, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, Maturity-onset diabetes of the young type 13 | Uncertain significance (Jan 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17408546
- GRCh38:
- Chr11:17386999
| KCNJ11 | R365C, R278C | Maturity onset diabetes mellitus in young, Hyperinsulinemic hypoglycemia, familial, 2, Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3, not provided | Uncertain significance (Jan 11, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17409559
- GRCh38:
- Chr11:17388012
| KCNJ11 | R27H | Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, KCNJ11-related condition, Maturity onset diabetes mellitus in young, not provided
| Conflicting interpretations of pathogenicity (Sep 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17408544
- GRCh38:
- Chr11:17386997
| KCNJ11 | | Maturity-onset diabetes of the young type 13, Inborn genetic diseases, Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3, not specified, Hyperinsulinemic hypoglycemia, familial, 2, not provided | Conflicting interpretations of pathogenicity (Aug 10, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:17408705
- GRCh38:
- Chr11:17387158
| KCNJ11 | G312S, G225S | Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 2, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Maturity-onset diabetes of the young type 13, not specified, Maturity onset diabetes mellitus in young | Uncertain significance (Sep 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:17408758
- GRCh38:
- Chr11:17387211
| KCNJ11 | T294M, T207M | Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 2, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2, Maturity-onset diabetes of the young type 13, not provided, Maturity onset diabetes mellitus in young, Hyperinsulinemic hypoglycemia, familial, 2, Hyperinsulinemia
| Conflicting interpretations of pathogenicity (Aug 26, 2022) | criteria provided, conflicting interpretations |