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Items: 1 to 100 of 124

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:17409228
GRCh38:
Chr11:17387681
KCNJ11M137I, M50IDiabetes 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
2.
GRCh37:
Chr11:17408533
GRCh38:
Chr11:17386986
KCNJ11R282L, R369LDiabetes 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
3.
GRCh37:
Chr11:17409286
GRCh38:
Chr11:17387739
KCNJ11S118L, S31LDiabetes 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
4.
GRCh37:
Chr11:17409538
GRCh38:
Chr11:17387991
KCNJ11R34HHyperinsulinemic 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
5.
GRCh37:
Chr11:17409540
GRCh38:
Chr11:17387993
KCNJ11Diabetes 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
6.
GRCh37:
Chr11:17409189
GRCh38:
Chr11:17387642
KCNJ11Diabetes 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
7.
GRCh37:
Chr11:17409572-17409573
GRCh38:
Chr11:17388025-17388026
KCNJ11K23EDiabetes 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
8.
GRCh37:
Chr11:17408698
GRCh38:
Chr11:17387151
KCNJ11R227H, R314HPermanent 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
9.
GRCh37:
Chr11:17409100
GRCh38:
Chr11:17387553
KCNJ11T93N, T180NMaturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 3Uncertain significance
(May 9, 2018)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr11:17408836
GRCh38:
Chr11:17387289
KCNJ11Y268F, Y181FDiabetes mellitus, transient neonatal, 3Uncertain significance
(Jun 21, 2019)
criteria provided, single submitter
11.
GRCh37:
Chr11:17409167
GRCh38:
Chr11:17387620
KCNJ11M158L, M71LDiabetes mellitus, transient neonatal, 3Uncertain significance
(Sep 27, 2019)
criteria provided, single submitter
12.
GRCh37:
Chr11:17408734
GRCh38:
Chr11:17387187
KCNJ11T215I, T302IDiabetes 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
13.
GRCh37:
Chr11:17409629
GRCh38:
Chr11:17388082
KCNJ11R4CDiabetes 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
14.
GRCh37:
Chr11:17408595
GRCh38:
Chr11:17387048
KCNJ11Q261H, Q348HMonogenic 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
15.
GRCh37:
Chr11:17407617
GRCh38:
Chr11:17386070
KCNJ11Maturity 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
16.
GRCh37:
Chr11:17409675
GRCh38:
Chr11:17388128
KCNJ11Maturity 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
17.
GRCh37:
Chr11:17407429
GRCh38:
Chr11:17385882
KCNJ11Maturity 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
18.
GRCh37:
Chr11:17409548
GRCh38:
Chr11:17388001
KCNJ11R31WMaturity 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
19.
GRCh37:
Chr11:17410062
GRCh38:
Chr11:17388515
KCNJ11Maturity 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
20.
GRCh37:
Chr11:17409483
GRCh38:
Chr11:17387936
KCNJ11Maturity 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
21.
GRCh37:
Chr11:17409188
GRCh38:
Chr11:17387641
KCNJ11V151M, V64MMaturity-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
22.
GRCh37:
Chr11:17408467
GRCh38:
Chr11:17386920
KCNJ11Maturity 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
23.
GRCh37:
Chr11:17407700
GRCh38:
Chr11:17386153
KCNJ11Maturity 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
24.
GRCh37:
Chr11:17407624
GRCh38:
Chr11:17386077
KCNJ11Maturity 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
25.
GRCh37:
Chr11:17407618
GRCh38:
Chr11:17386071
KCNJ11Maturity-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
26.
GRCh37:
Chr11:17407246
GRCh38:
Chr11:17385699
KCNJ11Maturity-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
27.
GRCh37:
Chr11:17407051
GRCh38:
Chr11:17385504
KCNJ11Maturity-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
28.
GRCh37:
Chr11:17408820
GRCh38:
Chr11:17387273
KCNJ11Maturity-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
29.
GRCh37:
Chr11:17409232
GRCh38:
Chr11:17387685
KCNJ11R136H, R49HMaturity 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
30.
GRCh37:
Chr11:17408842
GRCh38:
Chr11:17387295
KCNJ11P266L, P179LPermanent 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
31.
GRCh37:
Chr11:17409348-17409349
GRCh38:
Chr11:17387801-17387802
KCNJ11H97fs, H10fsPermanent 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
32.
GRCh37:
Chr11:17409539
GRCh38:
Chr11:17387992
KCNJ11R34CMonogenic 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
33.
GRCh37:
Chr11:17409141
GRCh38:
Chr11:17387594
KCNJ11C166*, 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
34.
GRCh37:
Chr11:17408977
GRCh38:
Chr11:17387430
KCNJ11R221H, R134HDiabetes 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
35.
GRCh37:
Chr11:17409022
GRCh38:
Chr11:17387475
KCNJ11R206L, R119LPermanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 3, Hyperinsulinemic hypoglycemia, familial, 2,
Hypoglycemia
Conflicting interpretations of pathogenicity
(Jan 16, 2018)
criteria provided, conflicting interpretations
36.
GRCh37:
Chr11:17409273-17409276
GRCh38:
Chr11:17387726-17387729
KCNJ11L35fs, L122fsPermanent 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
37.
GRCh37:
Chr11:17409112
GRCh38:
Chr11:17387565
KCNJ11R176H, R89HDiabetes 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
38.
GRCh37:
Chr11:17408796-17408798
GRCh38:
Chr11:17387249-17387251
KCNJ11L281del, L194delPermanent 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
39.
GRCh37:
Chr11:17408920-17408921
GRCh38:
Chr11:17387373-17387374
KCNJ11M153fs, M240fsPermanent 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
40.
GRCh37:
Chr11:17408574-17408575
GRCh38:
Chr11:17387027-17387028
KCNJ11L356fs, L269fsPermanent 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
41.
GRCh37:
Chr11:17408527
GRCh38:
Chr11:17386980
KCNJ11R371H, R284HPermanent 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
42.
GRCh37:
Chr11:17409375
GRCh38:
Chr11:17387828
KCNJ11M88I, M1IMaturity 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
43.
GRCh37:
Chr11:17409692
GRCh38:
Chr11:17388145
KCNJ11Diabetes 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
44.
GRCh37:
Chr11:17408599
GRCh38:
Chr11:17387052
KCNJ11R347H, R260HInborn 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
45.
GRCh37:
Chr11:17408867-17408868
GRCh38:
Chr11:17387320-17387321
KCNJ11Y258fs, Y171fsPermanent 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
46.
GRCh37:
Chr11:17408786
GRCh38:
Chr11:17387239
KCNJ11V285I, V198IMaturity 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
47.
GRCh37:
Chr11:17409064
GRCh38:
Chr11:17387517
KCNJ11R192H, R105HMaturity 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
48.
GRCh37:
Chr11:17409337
GRCh38:
Chr11:17387790
KCNJ11A101D, A14DPermanent 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
49.
GRCh37:
Chr11:17409347
GRCh38:
Chr11:17387800
KCNJ11G98S, G11SMaturity 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
50.
GRCh37:
Chr11:17408545
GRCh38:
Chr11:17386998
KCNJ11R365H, R278HPermanent 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
51.
GRCh37:
Chr11:17409520
GRCh38:
Chr11:17387973
KCNJ11G40DKCNJ11-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
52.
GRCh37:
Chr11:17409079
GRCh38:
Chr11:17387532
KCNJ11A187V, A100VPermanent 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
53.
GRCh37:
Chr11:17408669
GRCh38:
Chr11:17387122
KCNJ11G324R, G237RDiabetes 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
54.
GRCh37:
Chr11:17409772-17409773
GRCh38:
Chr11:17388225-17388226
KCNJ11Permanent 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
55.
GRCh37:
Chr11:17408623
GRCh38:
Chr11:17387076
KCNJ11V339G, V252GKCNJ11-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
56.
GRCh37:
Chr11:17409592
GRCh38:
Chr11:17388045
KCNJ11R16HType 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
57.
GRCh37:
Chr11:17408666
GRCh38:
Chr11:17387119
KCNJ11R325S, R238SDiabetes 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
58.
GRCh37:
Chr11:17409233
GRCh38:
Chr11:17387686
KCNJ11R136C, R49Cnot 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
59.
GRCh37:
Chr11:17410197
GRCh38:
Chr11:17388650
ABCC8, KCNJ11Hyperinsulinism, 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
60.
GRCh37:
Chr11:17410184
GRCh38:
Chr11:17388637
KCNJ11Hyperinsulinemic 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
61.
GRCh37:
Chr11:17410153
GRCh38:
Chr11:17388606
KCNJ11Hyperinsulinemic 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
62.
GRCh37:
Chr11:17410136
GRCh38:
Chr11:17388589
ABCC8, KCNJ11Hyperinsulinism, 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
63.
GRCh37:
Chr11:17409817
GRCh38:
Chr11:17388270
KCNJ11Hyperinsulinemic 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
64.
GRCh37:
Chr11:17409792
GRCh38:
Chr11:17388245
ABCC8, KCNJ11Hyperinsulinism, 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
65.
GRCh37:
Chr11:17409788
GRCh38:
Chr11:17388241
KCNJ11Maturity 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
66.
GRCh37:
Chr11:17409114
GRCh38:
Chr11:17387567
KCNJ11H175Q, H88QHyperinsulinemic 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
67.
GRCh37:
Chr11:17408898
GRCh38:
Chr11:17387351
KCNJ11Hyperinsulinemic 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
68.
GRCh37:
Chr11:17408835
GRCh38:
Chr11:17387288
KCNJ11Maturity 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
69.
GRCh37:
Chr11:17408605
GRCh38:
Chr11:17387058
KCNJ11T345M, T258MHyperinsulinemic 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
70.
GRCh37:
Chr11:17408426
GRCh38:
Chr11:17386879
KCNJ11Hyperinsulinemic 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
71.
GRCh37:
Chr11:17408416
GRCh38:
Chr11:17386869
KCNJ11Hyperinsulinemic 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
72.
GRCh37:
Chr11:17408404
GRCh38:
Chr11:17386857
KCNJ11Maturity 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
73.
GRCh37:
Chr11:17408390
GRCh38:
Chr11:17386843
KCNJ11not 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
74.
GRCh37:
Chr11:17408374
GRCh38:
Chr11:17386827
KCNJ11not 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
75.
GRCh37:
Chr11:17408367
GRCh38:
Chr11:17386820
KCNJ11Maturity 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
76.
GRCh37:
Chr11:17408251
GRCh38:
Chr11:17386704
KCNJ11not 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
77.
GRCh37:
Chr11:17408248
GRCh38:
Chr11:17386701
KCNJ11Maturity 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
78.
GRCh37:
Chr11:17408178
GRCh38:
Chr11:17386631
KCNJ11Hyperinsulinemic 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
79.
GRCh37:
Chr11:17408155
GRCh38:
Chr11:17386608
KCNJ11Hyperinsulinemic 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
80.
GRCh37:
Chr11:17408090
GRCh38:
Chr11:17386543
KCNJ11not 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
81.
GRCh37:
Chr11:17408025
GRCh38:
Chr11:17386478
KCNJ11Maturity-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
82.
GRCh37:
Chr11:17407979
GRCh38:
Chr11:17386432
KCNJ11Hyperinsulinemic 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
83.
GRCh37:
Chr11:17407937
GRCh38:
Chr11:17386390
KCNJ11Hyperinsulinemic 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
84.
GRCh37:
Chr11:17407920
GRCh38:
Chr11:17386373
KCNJ11Maturity 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
85.
GRCh37:
Chr11:17407788
GRCh38:
Chr11:17386241
KCNJ11Hyperinsulinemic 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
86.
GRCh37:
Chr11:17407780
GRCh38:
Chr11:17386233
KCNJ11Hyperinsulinemic 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
87.
GRCh37:
Chr11:17407769
GRCh38:
Chr11:17386222
KCNJ11Hyperinsulinemic 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
88.
GRCh37:
Chr11:17407765
GRCh38:
Chr11:17386218
KCNJ11Hyperinsulinemic 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
89.
GRCh37:
Chr11:17407734
GRCh38:
Chr11:17386187
KCNJ11Maturity 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
90.
GRCh37:
Chr11:17407604
GRCh38:
Chr11:17386057
KCNJ11Maturity 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
91.
GRCh37:
Chr11:17407529
GRCh38:
Chr11:17385982
KCNJ11Hyperinsulinemic 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
92.
GRCh37:
Chr11:17407411
GRCh38:
Chr11:17385864
KCNJ11Hyperinsulinemic 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
93.
GRCh37:
Chr11:17407298
GRCh38:
Chr11:17385751
KCNJ11Hyperinsulinemic 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
94.
GRCh37:
Chr11:17407269
GRCh38:
Chr11:17385722
KCNJ11Maturity 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
95.
GRCh37:
Chr11:17406904
GRCh38:
Chr11:17385357
KCNJ11Hyperinsulinemic 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
96.
GRCh37:
Chr11:17408546
GRCh38:
Chr11:17386999
KCNJ11R365C, R278CMaturity 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
97.
GRCh37:
Chr11:17409559
GRCh38:
Chr11:17388012
KCNJ11R27HPermanent 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
98.
GRCh37:
Chr11:17408544
GRCh38:
Chr11:17386997
KCNJ11Maturity-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
99.
GRCh37:
Chr11:17408705
GRCh38:
Chr11:17387158
KCNJ11G312S, G225SType 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
100.
GRCh37:
Chr11:17408758
GRCh38:
Chr11:17387211
KCNJ11T294M, T207MType 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
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