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Items: 1 to 100 of 353

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
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
2.
GRCh37:
Chr11:17409233-17409234
GRCh38:
Chr11:17387686-17387687
KCNJ11R136fs, R49fsnot providedPathogenic/Likely pathogenic
(Dec 26, 2021)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr11:17409081
GRCh38:
Chr11:17387534
KCNJ11not provided, Maturity onset diabetes mellitus in youngConflicting interpretations of pathogenicity
(Aug 27, 2021)		criteria provided, conflicting interpretations
4.
GRCh37:
Chr11:17409071
GRCh38:
Chr11:17387524
KCNJ11A103T, A190TMaturity onset diabetes mellitus in young, not providedConflicting interpretations of pathogenicity
(Oct 31, 2022)		criteria provided, conflicting interpretations
5.
GRCh37:
Chr11:17409003
GRCh38:
Chr11:17387456
KCNJ11not provided, Maturity onset diabetes mellitus in youngConflicting interpretations of pathogenicity
(Oct 31, 2022)		criteria provided, conflicting interpretations
6.
GRCh37:
Chr11:17408955
GRCh38:
Chr11:17387408
KCNJ11not provided, Maturity onset diabetes mellitus in youngConflicting interpretations of pathogenicity
(Sep 7, 2022)		criteria provided, conflicting interpretations
7.
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
8.
GRCh37:
Chr11:17408634
GRCh38:
Chr11:17387087
KCNJ11N248K, N335KMaturity onset diabetes mellitus in youngUncertain significancecriteria provided, single submitter
9.
GRCh37:
Chr11:17408534
GRCh38:
Chr11:17386987
KCNJ11R282C, R369CMaturity onset diabetes mellitus in youngUncertain significancecriteria provided, single submitter
10.
GRCh37:
Chr11:17408522
GRCh38:
Chr11:17386975
KCNJ11V286M, V373Mnot provided, Maturity onset diabetes mellitus in youngConflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
11.
GRCh37:
Chr11:17408513
GRCh38:
Chr11:17386966
KCNJ11A289S, A376SMaturity onset diabetes mellitus in youngUncertain significancecriteria provided, single submitter
12.
GRCh37:
Chr11:17409644
GRCh38:
Chr11:17388097
KCNJ11Permanent neonatal diabetes mellitusUncertain significance
(Apr 13, 2020)		no assertion criteria provided
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:
Chr11:17409590
GRCh38:
Chr11:17388043
KCNJ11Transitory neonatal diabetes mellitus, not providedConflicting interpretations of pathogenicity
(Dec 19, 2021)		criteria provided, conflicting interpretations
15.
GRCh37:
Chr11:17409453
GRCh38:
Chr11:17387906
KCNJ11Maturity onset diabetes mellitus in young, not providedConflicting interpretations of pathogenicity
(Aug 23, 2022)		criteria provided, conflicting interpretations
16.
GRCh37:
Chr11:17409354
GRCh38:
Chr11:17387807
KCNJ11Maturity onset diabetes mellitus in young, not providedConflicting interpretations of pathogenicity
(Oct 27, 2021)		criteria provided, conflicting interpretations
17.
GRCh37:
Chr11:17409330
GRCh38:
Chr11:17387783
KCNJ11S103R, S16RMaturity onset diabetes mellitus in youngUncertain significancecriteria provided, single submitter
18.
GRCh37:
Chr7:44185264
GRCh38:
Chr7:44145665
GCKT362I, T40I, T363I, T25I, T361IMaturity onset diabetes mellitus in young, not providedUncertain significance/Uncertain risk allele
(Nov 27, 2019)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr11:17409481-17409487
GRCh38:
Chr11:17387934-17387940
KCNJ11E51fsMaturity onset diabetes mellitus in young, not providedConflicting interpretations of pathogenicity
(Feb 7, 2022)		criteria provided, conflicting interpretations
20.
GRCh37:
Chr11:17427035
GRCh38:
Chr11:17405488
ABCC8Transitory neonatal diabetes mellitus, Permanent neonatal diabetes mellitus, Maturity onset diabetes mellitus in young
Uncertain significance
(Feb 3, 2020)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr7:44228831
GRCh38:
Chr7:44189232
GCKTransient Neonatal Diabetes, Recessive, Hyperinsulinism due to glucokinase deficiency, Maturity onset diabetes mellitus in young,
Maturity-onset diabetes of the young type 2, Permanent neonatal diabetes mellitus		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
22.
GRCh37:
Chr7:44228543
GRCh38:
Chr7:44188944
GCKD4NMaturity-onset diabetes of the young type 2, Permanent neonatal diabetes mellitus, Transient Neonatal Diabetes, Recessive,
Type II diabetes mellitus, Hyperinsulinism due to glucokinase deficiency, Permanent neonatal diabetes mellitus 1,
Maturity-onset diabetes of the young type 2, Hyperinsulinism due to glucokinase deficiency		Uncertain significance
(Jan 27, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr7:44189389
GRCh38:
Chr7:44149790
GCKD218N, D216N, D217NMonogenic diabetesBenign
(Aug 13, 2023)		reviewed by expert panel
FDA Recognized Database
24.
GRCh37:
Chr7:44185084
GRCh38:
Chr7:44145485
GCKTransient Neonatal Diabetes, Recessive, Hyperinsulinism due to glucokinase deficiency, Maturity onset diabetes mellitus in young,
Maturity-onset diabetes of the young type 2, Permanent neonatal diabetes mellitus		Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
25.
GRCh37:
Chr7:44229008
GRCh38:
Chr7:44189409
GCKTransient Neonatal Diabetes, Recessive, Hyperinsulinism due to glucokinase deficiency, Permanent neonatal diabetes mellitus,
Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 2		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
26.
GRCh37:
Chr7:44228819
GRCh38:
Chr7:44189220
GCKTransient Neonatal Diabetes, Recessive, not provided, Hyperinsulinism due to glucokinase deficiency,
Permanent neonatal diabetes mellitus, Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 2
Benign/Likely benign
(Sep 29, 2018)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr7:44228769
GRCh38:
Chr7:44189170
GCKTransient Neonatal Diabetes, Recessive, not provided, Hyperinsulinism due to glucokinase deficiency,
Permanent neonatal diabetes mellitus, Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 2
Benign/Likely benign
(Jun 19, 2019)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr7:44189363
GRCh38:
Chr7:44149764
GCKTransient Neonatal Diabetes, Recessive, Hyperinsulinism due to glucokinase deficiency, Permanent neonatal diabetes mellitus,
Maturity-onset diabetes of the young type 2		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
29.
GRCh37:
Chr7:44184871
GRCh38:
Chr7:44145272
GCKE421G, E84G, E99G, E420G, E422G, E41GTransient Neonatal Diabetes, Recessive, Hyperinsulinism due to glucokinase deficiency, Permanent neonatal diabetes mellitus,
Maturity-onset diabetes of the young type 2		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
30.
GRCh37:
Chr7:44229007
GRCh38:
Chr7:44189408
GCKTransient Neonatal Diabetes, Recessive, Hyperinsulinism due to glucokinase deficiency, Permanent neonatal diabetes mellitus,
not specified, Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 2
Conflicting interpretations of pathogenicity
(Jul 20, 2018)		criteria provided, conflicting interpretations
31.
GRCh37:
Chr7:44228767
GRCh38:
Chr7:44189168
GCKTransient Neonatal Diabetes, Recessive, Hyperinsulinism due to glucokinase deficiency, not specified,
Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 2, Permanent neonatal diabetes mellitus
Benign/Likely benign
(Apr 18, 2018)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr7:44228689
GRCh38:
Chr7:44189090
GCKTransient Neonatal Diabetes, Recessive, Hyperinsulinism due to glucokinase deficiency, Permanent neonatal diabetes mellitus,
Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 2		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
33.
GRCh37:
Chr7:44190603
GRCh38:
Chr7:44151004
GCKTransient Neonatal Diabetes, Recessive, Hyperinsulinism due to glucokinase deficiency, Permanent neonatal diabetes mellitus,
Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 2		Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
34.
GRCh37:
Chr7:44190552
GRCh38:
Chr7:44150953
GCKTransient Neonatal Diabetes, Recessive, not provided, Hyperinsulinism due to glucokinase deficiency,
Permanent neonatal diabetes mellitus, Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 2
Conflicting interpretations of pathogenicity
(Jun 24, 2021)		criteria provided, conflicting interpretations
35.
GRCh37:
Chr7:44187446
GRCh38:
Chr7:44147847
GCKTransient Neonatal Diabetes, Recessive, not provided, Hyperinsulinism due to glucokinase deficiency,
Permanent neonatal diabetes mellitus, Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 2
Conflicting interpretations of pathogenicity
(May 11, 2022)		criteria provided, conflicting interpretations
36.
GRCh37:
Chr7:44187320
GRCh38:
Chr7:44147721
GCKTransient Neonatal Diabetes, Recessive, Hyperinsulinism due to glucokinase deficiency, Permanent neonatal diabetes mellitus,
Maturity-onset diabetes of the young type 2		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
37.
GRCh37:
Chr7:44229001
GRCh38:
Chr7:44189402
GCKTransient Neonatal Diabetes, Recessive, Hyperinsulinism due to glucokinase deficiency, Permanent neonatal diabetes mellitus,
Maturity-onset diabetes of the young type 2		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
38.
GRCh37:
Chr7:44228948
GRCh38:
Chr7:44189349
GCKTransient Neonatal Diabetes, Recessive, Hyperinsulinism due to glucokinase deficiency, Maturity onset diabetes mellitus in young,
Maturity-onset diabetes of the young type 2, Permanent neonatal diabetes mellitus		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
39.
GRCh37:
Chr7:44228654
GRCh38:
Chr7:44189055
GCKTransient Neonatal Diabetes, Recessive, Hyperinsulinism due to glucokinase deficiency, Maturity-onset diabetes of the young type 2,
Permanent neonatal diabetes mellitus		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
40.
GRCh37:
Chr7:44228636
GRCh38:
Chr7:44189037
GCKnot provided, Transient Neonatal Diabetes, Recessive, Hyperinsulinism due to glucokinase deficiency,
Permanent neonatal diabetes mellitus, Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 2
Benign
(Jun 26, 2018)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr7:44189469
GRCh38:
Chr7:44149870
GCKTransient Neonatal Diabetes, Recessive, Maturity-onset diabetes of the young type 2, Hyperinsulinism due to glucokinase deficiency,
Permanent neonatal diabetes mellitus, Maturity onset diabetes mellitus in young		Uncertain significance/Uncertain risk allele
(Jan 12, 2018)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr7:44185325
GRCh38:
Chr7:44145726
GCKT341P, T342P, T343P, T5P, T20PMaturity-onset diabetes of the young type 2, Transient Neonatal Diabetes, Recessive, Permanent neonatal diabetes mellitus,
Type II diabetes mellitus, Hyperinsulinism due to glucokinase deficiency, Permanent neonatal diabetes mellitus 1,
Maturity-onset diabetes of the young type 2, Hyperinsulinism due to glucokinase deficiency		Uncertain significance
(Mar 4, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr7:44185229
GRCh38:
Chr7:44145630
GCKV373L, V375L, V37L, V374L, V52LTransient Neonatal Diabetes, Recessive, Maturity-onset diabetes of the young type 2, Hyperinsulinism due to glucokinase deficiency,
Permanent neonatal diabetes mellitus		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
44.
GRCh37:
Chr11:17498250
GRCh38:
Chr11:17476703
ABCC8G25VMaturity onset diabetes mellitus in young, Hyperinsulinemic hypoglycemia, familial, 1, Permanent neonatal diabetes mellitus,
Transitory neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 2		Uncertain significance
(Apr 27, 2017)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr11:17483165
GRCh38:
Chr11:17461618
ABCC8Y263DDiabetes mellitus, transient neonatal, 2, Hyperinsulinemic hypoglycemia, familial, 1, Permanent neonatal diabetes mellitus,
Diabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Type II diabetes mellitus		Uncertain significance
(May 6, 2022)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr11:17449961
GRCh38:
Chr11:17428414
ABCC8H661YMaturity onset diabetes mellitus in young, Hyperinsulinemic hypoglycemia, familial, 1, not provided,
Permanent neonatal diabetes mellitus, Transitory neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 2
Conflicting interpretations of pathogenicity
(Aug 5, 2022)		criteria provided, conflicting interpretations
47.
GRCh37:
Chr11:17448601
GRCh38:
Chr11:17427054
ABCC8W738C, W739C, W761CTransitory neonatal diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 1, Diabetes mellitus, transient neonatal, 2,
Maturity onset diabetes mellitus in young, Diabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3,
Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia, Type II diabetes mellitus,
Permanent neonatal diabetes mellitus		Uncertain significance
(Aug 16, 2023)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr11:17418851
GRCh38:
Chr11:17397304
ABCC8Y1294D, Y1292D, Y1315D, Y1293DHyperinsulinemic hypoglycemia, familial, 1, Diabetes mellitus, transient neonatal, 2, not provided,
Permanent neonatal diabetes mellitus, Type II diabetes mellitus		Uncertain significance
(Jun 9, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr11:17426154
GRCh38:
Chr11:17404607
ABCC8Maturity onset diabetes mellitus in young, Hyperinsulinemic hypoglycemia, familial, 1, Permanent neonatal diabetes mellitus,
Transitory neonatal diabetes mellitus, not provided, Diabetes mellitus, transient neonatal, 2
Conflicting interpretations of pathogenicity
(Oct 28, 2022)		criteria provided, conflicting interpretations
50.
GRCh37:
Chr11:17418746
GRCh38:
Chr11:17397199
ABCC8L1328I, L1329I, L1350I, L1327IHyperinsulinemic hypoglycemia, familial, 1, Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 2
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
51.
GRCh37:
Chr11:17498173
GRCh38:
Chr11:17476626
ABCC8Transitory neonatal diabetes mellitus, Maturity onset diabetes mellitus in young, Hyperinsulinemic hypoglycemia, familial, 1,
Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 2		Uncertain significance
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr11:17485057
GRCh38:
Chr11:17463510
ABCC8Transitory neonatal diabetes mellitus, Maturity onset diabetes mellitus in young, not provided,
Hyperinsulinemic hypoglycemia, familial, 1, Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 2
Conflicting interpretations of pathogenicity
(Apr 6, 2022)		criteria provided, conflicting interpretations
53.
GRCh37:
Chr11:17482113
GRCh38:
Chr11:17460566
ABCC8Transitory neonatal diabetes mellitus, Maturity onset diabetes mellitus in young, Hyperinsulinemic hypoglycemia, familial, 1,
Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 2		Uncertain significance
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr11:17416764
GRCh38:
Chr11:17395217
ABCC8I1455V, I1456V, I1457V, I1478VMaturity onset diabetes mellitus in young, Hyperinsulinemic hypoglycemia, familial, 1, Transitory neonatal diabetes mellitus,
Diabetes mellitus, transient neonatal, 2, Permanent neonatal diabetes mellitus		Uncertain significance
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr11:17416720
GRCh38:
Chr11:17395173
ABCC8Transitory neonatal diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 1, Diabetes mellitus, transient neonatal, 2,
Maturity onset diabetes mellitus in young, Permanent neonatal diabetes mellitus, not provided
Conflicting interpretations of pathogenicity
(Oct 1, 2023)		criteria provided, conflicting interpretations
56.
GRCh37:
Chr11:17483379
GRCh38:
Chr11:17461832
ABCC8Maturity onset diabetes mellitus in young, Hyperinsulinemic hypoglycemia, familial, 1, Transitory neonatal diabetes mellitus,
not provided, Diabetes mellitus, transient neonatal, 2, Permanent neonatal diabetes mellitus
Conflicting interpretations of pathogenicity
(Sep 12, 2022)		criteria provided, conflicting interpretations
57.
GRCh37:
Chr11:17483365
GRCh38:
Chr11:17461818
ABCC8I196NMaturity onset diabetes mellitus in young, Hyperinsulinemic hypoglycemia, familial, 1, Permanent neonatal diabetes mellitus,
Transitory neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 2		Uncertain significance
(Mar 23, 2018)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr11:17483332
GRCh38:
Chr11:17461785
ABCC8P207LMaturity onset diabetes mellitus in young, Hyperinsulinemic hypoglycemia, familial, 1, Permanent neonatal diabetes mellitus,
Transitory neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 2		Uncertain significance
(Apr 28, 2017)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr11:17464259
GRCh38:
Chr11:17442712
ABCC8Maturity onset diabetes mellitus in young, not provided, Hyperinsulinemic hypoglycemia, familial, 1,
Permanent neonatal diabetes mellitus, Transitory neonatal diabetes mellitus, not specified,
Diabetes mellitus, transient neonatal, 2		Conflicting interpretations of pathogenicity
(Oct 28, 2022)		criteria provided, conflicting interpretations
60.
GRCh37:
Chr11:17453779
GRCh38:
Chr11:17432232
ABCC8T548M, T547Mnot provided, Hyperinsulinemic hypoglycemia, familial, 1, Diabetes mellitus, transient neonatal, 2,
Permanent neonatal diabetes mellitus		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
61.
GRCh37:
Chr11:17428521
GRCh38:
Chr11:17406974
ABCC8not provided, Permanent neonatal diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 1,
Diabetes mellitus, transient neonatal, 2		Conflicting interpretations of pathogenicity
(Jun 15, 2021)		criteria provided, conflicting interpretations
62.
GRCh37:
Chr11:17424204
GRCh38:
Chr11:17402657
ABCC8Hyperinsulinemic hypoglycemia, familial, 1, not provided, Diabetes mellitus, transient neonatal, 2,
Permanent neonatal diabetes mellitus		Conflicting interpretations of pathogenicity
(Dec 11, 2019)		criteria provided, conflicting interpretations
63.
GRCh37:
Chr11:17415804
GRCh38:
Chr11:17394257
ABCC8Hyperinsulinemic hypoglycemia, familial, 1, not provided, Diabetes mellitus, transient neonatal, 2,
Permanent neonatal diabetes mellitus		Conflicting interpretations of pathogenicity
(Jun 25, 2022)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr11:17483331
GRCh38:
Chr11:17461784
ABCC8not provided, Permanent neonatal diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 1,
Diabetes mellitus, transient neonatal, 2		Conflicting interpretations of pathogenicity
(Oct 21, 2022)		criteria provided, conflicting interpretations
65.
GRCh37:
Chr11:17483229
GRCh38:
Chr11:17461682
ABCC8Transitory neonatal diabetes mellitus, Maturity onset diabetes mellitus in young, not provided,
Permanent neonatal diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 1, Diabetes mellitus, transient neonatal, 2
Conflicting interpretations of pathogenicity
(Mar 23, 2022)		criteria provided, conflicting interpretations
66.
GRCh37:
Chr11:17483218
GRCh38:
Chr11:17461671
ABCC8I245TMaturity onset diabetes mellitus in young, Permanent neonatal diabetes mellitus, Transitory neonatal diabetes mellitus,
Hyperinsulinemic hypoglycemia, familial, 1, Diabetes mellitus, transient neonatal, 2		Uncertain significance
(Jan 13, 2018)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr11:17470180
GRCh38:
Chr11:17448633
ABCC8Transitory neonatal diabetes mellitus, Maturity onset diabetes mellitus in young, Hyperinsulinemic hypoglycemia, familial, 1,
Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 2		Uncertain significance
(Jan 12, 2018)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr11:17470126
GRCh38:
Chr11:17448579
ABCC8Hyperinsulinemic hypoglycemia, familial, 1, Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 2
Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
69.
GRCh37:
Chr11:17470113
GRCh38:
Chr11:17448566
ABCC8L427V, L428VTransitory neonatal diabetes mellitus, Maturity onset diabetes mellitus in young, Hyperinsulinemic hypoglycemia, familial, 1,
Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 2		Uncertain significance
(Mar 16, 2018)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr11:17448655
GRCh38:
Chr11:17427108
ABCC8Hyperinsulinemic hypoglycemia, familial, 1, Permanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 2
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
71.
GRCh37:
Chr11:17448612
GRCh38:
Chr11:17427065
ABCC8A736S, A758S, A735SHyperinsulinemic hypoglycemia, familial, 1, Diabetes mellitus, transient neonatal, 2, ABCC8-related condition,
Transitory neonatal diabetes mellitus, Maturity onset diabetes mellitus in young, Permanent neonatal diabetes mellitus,
Hyperinsulinemic hypoglycemia, familial, 1, Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 3,
Leucine-induced hypoglycemia, Diabetes mellitus, transient neonatal, 2 ...see more		Uncertain significance
(Oct 14, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr11:17408765
GRCh38:
Chr11:17387218
KCNJ11E205K, E292KMaturity onset diabetes mellitus in young, not providedUncertain significance
(Apr 24, 2019)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr11:17409060
GRCh38:
Chr11:17387513
KCNJ11not provided, Maturity onset diabetes mellitus in youngConflicting interpretations of pathogenicity
(Aug 21, 2022)		criteria provided, conflicting interpretations
74.
GRCh37:
Chr11:17418466
GRCh38:
Chr11:17396919
ABCC8Maturity onset diabetes mellitus in young, Transitory neonatal diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 1,
Diabetes mellitus, transient neonatal, 2, Permanent neonatal diabetes mellitus, not specified,
not provided		Conflicting interpretations of pathogenicity
(Nov 2, 2022)		criteria provided, conflicting interpretations
75.
GRCh37:
Chr11:17409078
GRCh38:
Chr11:17387531
KCNJ11not provided, Maturity onset diabetes mellitus in youngConflicting interpretations of pathogenicity
(Sep 15, 2022)		criteria provided, conflicting interpretations
76.
GRCh37:
Chr11:17428255
GRCh38:
Chr11:17406708
ABCC8Maturity onset diabetes mellitus in young, not provided, Transitory neonatal diabetes mellitus,
Hyperinsulinemic hypoglycemia, familial, 1, Diabetes mellitus, transient neonatal, 2, Permanent neonatal diabetes mellitus
Conflicting interpretations of pathogenicity
(Oct 4, 2022)		criteria provided, conflicting interpretations
77.
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
78.
GRCh37:
Chr11:17418505
GRCh38:
Chr11:17396958
ABCC8Transitory neonatal diabetes mellitus, Maturity onset diabetes mellitus in young, not provided,
Hyperinsulinemic hypoglycemia, familial, 1, Diabetes mellitus, transient neonatal, 2, Permanent neonatal diabetes mellitus
Conflicting interpretations of pathogenicity
(Oct 31, 2022)		criteria provided, conflicting interpretations
79.
GRCh37:
Chr11:17409603
GRCh38:
Chr11:17388056
KCNJ11not providedLikely benign
(Sep 13, 2018)		criteria provided, single submitter
80.
GRCh37:
Chr11:17409330
GRCh38:
Chr11:17387783
KCNJ11not providedBenign
(Oct 4, 2022)		criteria provided, single submitter
81.
GRCh37:
Chr7:44191861
GRCh38:
Chr7:44152262
GCKTransient Neonatal Diabetes, Recessive, Maturity onset diabetes mellitus in young, Hyperinsulinism due to glucokinase deficiency,
Permanent neonatal diabetes mellitus, not specified, not provided,
Maturity-onset diabetes of the young type 2		Conflicting interpretations of pathogenicity
(Jan 21, 2021)		criteria provided, conflicting interpretations
82.
GRCh37:
Chr11:17408745
GRCh38:
Chr11:17387198
KCNJ11not provided, not specified, Maturity onset diabetes mellitus in young
Conflicting interpretations of pathogenicity
(Sep 15, 2023)		criteria provided, conflicting interpretations
83.
GRCh37:
Chr11:17409612
GRCh38:
Chr11:17388065
KCNJ11not provided, Inborn genetic diseases, Maturity onset diabetes mellitus in young
Conflicting interpretations of pathogenicity
(Oct 20, 2022)		criteria provided, conflicting interpretations
84.
GRCh37:
Chr11:17428639
GRCh38:
Chr11:17407092
ABCC8Inborn genetic diseases, Maturity onset diabetes mellitus in young, Hyperinsulinemic hypoglycemia, familial, 1,
Diabetes mellitus, transient neonatal, 2, Transitory neonatal diabetes mellitus, Permanent neonatal diabetes mellitus,
not provided, not specified		Conflicting interpretations of pathogenicity
(Nov 7, 2022)		criteria provided, conflicting interpretations
85.
GRCh37:
Chr11:17491717
GRCh38:
Chr11:17470170
ABCC8M115VHyperinsulinemic hypoglycemia, familial, 1, Diabetes mellitus, transient neonatal, 2, not specified,
Permanent neonatal diabetes mellitus, not provided		Conflicting interpretations of pathogenicity
(Nov 3, 2022)		criteria provided, conflicting interpretations
86.
GRCh37:
Chr11:2182176
GRCh38:
Chr11:2160946
INS, INS-IGF2P9RNeonatal insulin-dependent diabetes mellitusLikely risk allelecriteria provided, single submitter
87.
GRCh37:
Chr11:17408865
GRCh38:
Chr11:17387318
KCNJ11Y258*, Y171*not provided, Maturity onset diabetes mellitus in youngConflicting interpretations of pathogenicity
(Nov 14, 2017)		criteria provided, conflicting interpretations
88.
GRCh37:
Chr7:44184823
GRCh38:
Chr7:44145224
GCKT437I, T438I, T115I, T100I, T436I, T57Inot provided, Permanent neonatal diabetes mellitus, Hyperinsulinism due to glucokinase deficiency,
Type II diabetes mellitus, Maturity-onset diabetes of the young type 2		Uncertain significance
(Oct 31, 2018)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr11:17428295
GRCh38:
Chr11:17406748
ABCC8T1068M, T1069M, T1067M, T1090MHyperinsulinemic hypoglycemia, familial, 1, Diabetes mellitus, transient neonatal, 2, Permanent neonatal diabetes mellitus,
not provided, not specified		Conflicting interpretations of pathogenicity
(Mar 13, 2023)		criteria provided, conflicting interpretations
90.
GRCh37:
Chr11:17432091
GRCh38:
Chr11:17410544
ABCC8K889T, K890T, K911T, K888TPermanent neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 2, Monogenic diabetes,
not specified, Hyperinsulinemic hypoglycemia, familial, 1		Uncertain significance
(Dec 29, 2021)		criteria provided, multiple submitters, no conflicts
91.
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
92.
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
93.
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
94.
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
95.
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
96.
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
97.
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
98.
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
99.
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
100.
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
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