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Items: 1 to 100 of 249

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr11:17482100
GRCh38:
Chr11:17460553
ABCC8G315R, G316RDiabetes mellitus, transient neonatal, 2, Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 3,
Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia, Hyperinsulinemic hypoglycemia, familial, 1,
Familial hyperinsulinism		Conflicting interpretations of pathogenicity
(Oct 10, 2023)		criteria provided, conflicting interpretations
2.
GRCh37:
Chr11:17418492
GRCh38:
Chr11:17396945
ABCC8V1363F, V1364F, V1365F, V1386FTransitory neonatal diabetes mellitus, Maturity onset diabetes mellitus in young, Leucine-induced hypoglycemia,
Diabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3, Hyperinsulinemic hypoglycemia, familial, 1,
Type II diabetes mellitus		Conflicting interpretations of pathogenicity
(Jul 21, 2021)		criteria provided, conflicting interpretations
3.
GRCh37:
Chr11:17496515
GRCh38:
Chr11:17474968
ABCC8G70Rnot provided, ABCC8-related condition, Diabetes mellitus, transient neonatal, 2,
Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 3, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia		Conflicting interpretations of pathogenicity
(May 18, 2023)		criteria provided, conflicting interpretations
4.
GRCh37:
Chr11:17482130
GRCh38:
Chr11:17460583
ABCC8R305S, R306Snot provided, Leucine-induced hypoglycemia, Diabetes mellitus, transient neonatal, 2,
Diabetes mellitus, permanent neonatal 3, Hyperinsulinemic hypoglycemia, familial, 1, Type II diabetes mellitus
Uncertain significance
(Aug 26, 2021)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr11:17482152
GRCh38:
Chr11:17460605
ABCC8not provided, Leucine-induced hypoglycemia, Diabetes mellitus, transient neonatal, 2,
Diabetes mellitus, permanent neonatal 3, Hyperinsulinemic hypoglycemia, familial, 1, Type II diabetes mellitus
Likely benign
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr11:17419333
GRCh38:
Chr11:17397786
ABCC8Leucine-induced hypoglycemia, Diabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3,
Hyperinsulinemic hypoglycemia, familial, 1, Type II diabetes mellitus, not provided
Likely benign
(Jan 17, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr11:17435042
GRCh38:
Chr11:17413495
ABCC8, LOC110121471not provided, Leucine-induced hypoglycemia, Diabetes mellitus, transient neonatal, 2,
Diabetes mellitus, permanent neonatal 3, Hyperinsulinemic hypoglycemia, familial, 1, Type II diabetes mellitus
Benign
(Oct 26, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr11:17434943
GRCh38:
Chr11:17413396
ABCC8, LOC110121471Leucine-induced hypoglycemia, Diabetes mellitus, transient neonatal, 2, Type II diabetes mellitus,
Hyperinsulinemic hypoglycemia, familial, 1, Diabetes mellitus, permanent neonatal 3, not provided
Likely benign
(Mar 11, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr11:17449969
GRCh38:
Chr11:17428422
ABCC8P658LDiabetes mellitus, permanent neonatal 3, Diabetes mellitus, transient neonatal, 2, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Type II diabetes mellitus, Inborn genetic diseases,
not provided		Benign/Likely benign
(Feb 1, 2023)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr11:17498163
GRCh38:
Chr11:17476616
ABCC8not provided, Diabetes mellitus, transient neonatal, 2, Type II diabetes mellitus,
Leucine-induced hypoglycemia, Diabetes mellitus, permanent neonatal 3, Hyperinsulinemic hypoglycemia, familial, 1
Likely benign
(May 19, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr11:17415924
GRCh38:
Chr11:17394377
ABCC8Diabetes mellitus, transient neonatal, 2, Type II diabetes mellitus, Leucine-induced hypoglycemia,
Diabetes mellitus, permanent neonatal 3, Hyperinsulinemic hypoglycemia, familial, 1, not provided
Likely benign
(May 13, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr11:17483250
GRCh38:
Chr11:17461703
ABCC8Inborn genetic diseases, Diabetes mellitus, transient neonatal, 2, Type II diabetes mellitus,
Leucine-induced hypoglycemia, Diabetes mellitus, permanent neonatal 3, Hyperinsulinemic hypoglycemia, familial, 1,
not provided		Likely benign
(Sep 26, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr11:17483157
GRCh38:
Chr11:17461610
ABCC8not provided, Diabetes mellitus, permanent neonatal 3, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Diabetes mellitus, transient neonatal, 2, Type II diabetes mellitus
Likely benign
(Oct 8, 2021)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr11:17428208
GRCh38:
Chr11:17406661
ABCC8H1096R, H1097R, H1098R, H1119RDiabetes mellitus, transient neonatal, 2Uncertain significance
(Mar 22, 2022)		criteria provided, single submitter
15.
GRCh37:
Chr11:17452412
GRCh38:
Chr11:17430865
ABCC8P589L, P588Lnot provided, Leucine-induced hypoglycemia, Diabetes mellitus, permanent neonatal 3,
Diabetes mellitus, transient neonatal, 2, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 1
Uncertain significance
(Oct 31, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr11:17498279
GRCh38:
Chr11:17476732
ABCC8Y15*Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia, Diabetes mellitus, transient neonatal, 2,
Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 3, ABCC8-related condition,
not provided		Pathogenic/Likely pathogenic
(Dec 21, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr11:17428668
GRCh38:
Chr11:17407121
ABCC8A976T, A977T, A978T, A999TDiabetes mellitus, transient neonatal, 2, Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia,
Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 3, not provided,
Hyperinsulinemic hypoglycemia, familial, 1		Conflicting interpretations of pathogenicity
(Oct 31, 2022)		criteria provided, conflicting interpretations
18.
GRCh37:
Chr11:17428622
GRCh38:
Chr11:17407075
ABCC8R1014P, R991P, R992P, R993PDiabetes mellitus, transient neonatal, 2, Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia,
Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 3, not provided,
Inborn genetic diseases, not specified		Uncertain significance
(Mar 29, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr11:17491722
GRCh38:
Chr11:17470175
ABCC8A113VDiabetes mellitus, transient neonatal, 2, Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia,
Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 3, not provided
Conflicting interpretations of pathogenicity
(Jan 8, 2022)		criteria provided, conflicting interpretations
20.
GRCh37:
Chr11:17482073
GRCh38:
Chr11:17460526
ABCC8D324N, D325NDiabetes mellitus, transient neonatal, 2, Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia,
Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 3, Inborn genetic diseases,
not specified		Uncertain significance
(Nov 2, 2021)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr11:17449934
GRCh38:
Chr11:17428387
ABCC8R647C, R648C, R670CDiabetes mellitus, transient neonatal, 2, Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia,
Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 3, not specified
Uncertain significance
(Mar 24, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr11:17417197
GRCh38:
Chr11:17395650
ABCC8I1422V, I1423V, I1424V, I1445VDiabetes mellitus, transient neonatal, 2, Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia,
Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 3, not specified
Uncertain significance
(Aug 11, 2021)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr11:17429961
GRCh38:
Chr11:17408414
ABCC8R932Q, R933Q, R934Q, R955Qnot specified, Diabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3,
Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia, Type II diabetes mellitus,
not provided		Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr11:17449903
GRCh38:
Chr11:17428356
ABCC8G657V, G658V, G680VDiabetes mellitus, transient neonatal, 2, Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia,
Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 3, not provided,
not specified		Uncertain significance
(May 31, 2023)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr11:17491689
GRCh38:
Chr11:17470142
ABCC8Y124FDiabetes mellitus, transient neonatal, 2, Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia,
Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 3, not specified
Uncertain significance
(Dec 15, 2021)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr11:17470206
GRCh38:
Chr11:17448659
ABCC8N396H, N397HDiabetes mellitus, transient neonatal, 2, Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia,
Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 3, not specified,
not provided		Conflicting interpretations of pathogenicity
(Aug 4, 2022)		criteria provided, conflicting interpretations
27.
GRCh37:
Chr11:17464366
GRCh38:
Chr11:17442819
ABCC8L510V, L511VHyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia, Diabetes mellitus, permanent neonatal 3,
Diabetes mellitus, transient neonatal, 2, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 1,
not provided		Uncertain significance
(Jun 23, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr11:17483146
GRCh38:
Chr11:17461599
ABCC8A269DDiabetes mellitus, transient neonatal, 2, Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia,
Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 3, not specified
Uncertain significance
(Oct 13, 2021)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr11:17416788
GRCh38:
Chr11:17395241
ABCC8S1447G, S1448G, S1449G, S1470GHyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia, Type II diabetes mellitus,
Diabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3, not provided
Uncertain significance
(May 18, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr11:17419981
GRCh38:
Chr11:17398434
ABCC8A1219T, A1220T, A1221T, A1242THyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia, Type II diabetes mellitus,
Diabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3, not provided
Uncertain significance
(Apr 11, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr11:17426153
GRCh38:
Chr11:17404606
ABCC8V1154I, V1155I, V1156I, V1177Inot provided, Diabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3,
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia,
Diabetes mellitus, permanent neonatal 3, not specified, Hyperinsulinemic hypoglycemia, familial, 1
Conflicting interpretations of pathogenicity
(Aug 27, 2022)		criteria provided, conflicting interpretations
32.
GRCh37:
Chr11:17428524
GRCh38:
Chr11:17406977
ABCC8V1024I, V1025I, V1026I, V1047IDiabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3, Type II diabetes mellitus,
Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia, not provided,
Inborn genetic diseases		Uncertain significance
(Apr 5, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr11:17436042
GRCh38:
Chr11:17414495
ABCC8, LOC110121471not provided, Diabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3,
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia
Benign/Likely benign
(Sep 29, 2021)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr11:17450142
GRCh38:
Chr11:17428595
ABCC8Q631fs, Q632fsDiabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3, Type II diabetes mellitus,
Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia		Pathogenic
(Jun 30, 2021)		criteria provided, single submitter
35.
GRCh37:
Chr11:17418370
GRCh38:
Chr11:17396823
ABCC8Leucine-induced hypoglycemia, Diabetes mellitus, transient neonatal, 2, Hyperinsulinemic hypoglycemia, familial, 1,
Diabetes mellitus, permanent neonatal 3, Transitory neonatal diabetes mellitus, not provided,
Maturity onset diabetes mellitus in young		Conflicting interpretations of pathogenicity
(Jul 1, 2021)		criteria provided, conflicting interpretations
36.
GRCh37:
Chr11:17436936
GRCh38:
Chr11:17415389
ABCC8Transitory neonatal diabetes mellitus, Leucine-induced hypoglycemia, Diabetes mellitus, transient neonatal, 2,
Hyperinsulinemic hypoglycemia, familial, 1, Diabetes mellitus, permanent neonatal 3, not provided,
Maturity onset diabetes mellitus in young		Conflicting interpretations of pathogenicity
(Jul 1, 2021)		criteria provided, conflicting interpretations
37.
GRCh37:
Chr11:17435966
GRCh38:
Chr11:17414419
ABCC8, LOC110121471Transitory neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3,
not provided, Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia,
Maturity onset diabetes mellitus in young		Conflicting interpretations of pathogenicity
(Jul 1, 2021)		criteria provided, conflicting interpretations
38.
GRCh37:
Chr11:17435936
GRCh38:
Chr11:17414389
LOC110121471, ABCC8Transitory neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 2, Leucine-induced hypoglycemia,
Hyperinsulinemic hypoglycemia, familial, 1, Diabetes mellitus, permanent neonatal 3, not provided,
Maturity onset diabetes mellitus in young		Conflicting interpretations of pathogenicity
(Jul 1, 2021)		criteria provided, conflicting interpretations
39.
GRCh37:
Chr11:17435840
GRCh38:
Chr11:17414293
ABCC8, LOC110121471Transitory neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 2, Leucine-induced hypoglycemia,
Hyperinsulinemic hypoglycemia, familial, 1, Diabetes mellitus, permanent neonatal 3, not provided,
Maturity onset diabetes mellitus in young		Conflicting interpretations of pathogenicity
(Jul 1, 2021)		criteria provided, conflicting interpretations
40.
GRCh37:
Chr11:17415190
GRCh38:
Chr11:17393643
ABCC8Diabetes mellitus, permanent neonatal 3, not provided, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Diabetes mellitus, transient neonatal, 2		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr11:17483349
GRCh38:
Chr11:17461802
ABCC8Diabetes mellitus, transient neonatal, 2, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Diabetes mellitus, permanent neonatal 3, not provided
Likely benign
(Sep 28, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr11:17428455
GRCh38:
Chr11:17406908
ABCC8Diabetes mellitus, transient neonatal, 2, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Diabetes mellitus, permanent neonatal 3, not provided
Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr11:17436130
GRCh38:
Chr11:17414583
ABCC8, LOC110121471Diabetes mellitus, transient neonatal, 2, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Diabetes mellitus, permanent neonatal 3, not provided
Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr11:17464316
GRCh38:
Chr11:17442769
ABCC8Diabetes mellitus, transient neonatal, 2, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Diabetes mellitus, permanent neonatal 3, not provided
Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr11:17483292
GRCh38:
Chr11:17461745
ABCC8not provided, Leucine-induced hypoglycemia, Diabetes mellitus, transient neonatal, 2,
Hyperinsulinemic hypoglycemia, familial, 1, Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 3
Likely benign
(Jan 7, 2022)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr11:17432123
GRCh38:
Chr11:17410576
ABCC8not provided, Leucine-induced hypoglycemia, Diabetes mellitus, transient neonatal, 2,
Hyperinsulinemic hypoglycemia, familial, 1, Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 3
Likely benign
(Jun 23, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr11:17415933
GRCh38:
Chr11:17394386
ABCC8Diabetes mellitus, transient neonatal, 2, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Diabetes mellitus, permanent neonatal 3, not provided
Likely benign
(Aug 19, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr11:17417228
GRCh38:
Chr11:17395681
ABCC8Diabetes mellitus, transient neonatal, 2, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Diabetes mellitus, permanent neonatal 3, not provided
Likely benign
(Aug 12, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr11:17438506
GRCh38:
Chr11:17416959
ABCC8not provided, Diabetes mellitus, transient neonatal, 2, Type II diabetes mellitus,
Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia, Diabetes mellitus, permanent neonatal 3
Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr11:17453760
GRCh38:
Chr11:17432213
ABCC8not provided, Diabetes mellitus, transient neonatal, 2, Type II diabetes mellitus,
Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia, Diabetes mellitus, permanent neonatal 3
Likely benign
(Feb 24, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr11:17483123
GRCh38:
Chr11:17461576
ABCC8not provided, Diabetes mellitus, transient neonatal, 2, Type II diabetes mellitus,
Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia, Diabetes mellitus, permanent neonatal 3
Likely benign
(Oct 21, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr11:17426202
GRCh38:
Chr11:17404655
ABCC8not provided, Diabetes mellitus, transient neonatal, 2, Type II diabetes mellitus,
Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia, Diabetes mellitus, permanent neonatal 3
Likely benign
(Jul 6, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr11:17428905
GRCh38:
Chr11:17407358
ABCC8Diabetes mellitus, transient neonatal, 2, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Diabetes mellitus, permanent neonatal 3, not provided
Likely benign
(Sep 23, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr11:17417445
GRCh38:
Chr11:17395898
ABCC8Diabetes mellitus, transient neonatal, 2, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Diabetes mellitus, permanent neonatal 3, not provided
Likely benign
(May 6, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr11:17474774
GRCh38:
Chr11:17453227
ABCC8Type II diabetes mellitus, Diabetes mellitus, transient neonatal, 2, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Diabetes mellitus, permanent neonatal 3, not provided
Likely benign
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr11:17452378
GRCh38:
Chr11:17430831
ABCC8not provided, Diabetes mellitus, transient neonatal, 2, Type II diabetes mellitus,
Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia, Diabetes mellitus, permanent neonatal 3
Likely benign
(Jun 9, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr11:17428938
GRCh38:
Chr11:17407391
ABCC8not provided, Diabetes mellitus, transient neonatal, 2, Type II diabetes mellitus,
Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia, Diabetes mellitus, permanent neonatal 3
Likely benign
(May 18, 2022)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr11:17470114
GRCh38:
Chr11:17448567
ABCC8not provided, Diabetes mellitus, transient neonatal, 2, Type II diabetes mellitus,
Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia, Diabetes mellitus, permanent neonatal 3
Likely benign
(Jun 22, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr11:17485084
GRCh38:
Chr11:17463537
ABCC8not provided, Diabetes mellitus, transient neonatal, 2, Type II diabetes mellitus,
Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia, Diabetes mellitus, permanent neonatal 3
Likely benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr11:17414607
GRCh38:
Chr11:17393060
ABCC8Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia, Diabetes mellitus, transient neonatal, 2,
Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 3, not provided
Likely benign
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr11:17436145
GRCh38:
Chr11:17414598
ABCC8, LOC110121471not provided, Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia,
Diabetes mellitus, transient neonatal, 2, Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 3
Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr11:17453775
GRCh38:
Chr11:17432228
ABCC8I549fs, I550fsHyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia, Diabetes mellitus, transient neonatal, 2,
Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 3, not provided
Pathogenic/Likely pathogenic
(Mar 2, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr11:17470063
GRCh38:
Chr11:17448516
ABCC8Q443H, Q444HDiabetes mellitus, transient neonatal, 2, Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 3,
Leucine-induced hypoglycemia, Hyperinsulinemic hypoglycemia, familial, 1, not provided
Pathogenic/Likely pathogenic
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr11:17498320
GRCh38:
Chr11:17476773
ABCC8P2TDiabetes mellitus, transient neonatal, 2, Type II diabetes mellitus, Diabetes mellitus, permanent neonatal 3,
Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia, ABCC8-related condition
Uncertain significance
(Dec 20, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr11:17496468
GRCh38:
Chr11:17474921
ABCC8Diabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Type II diabetes mellitus, not provided,
Maturity onset diabetes mellitus in young, Transitory neonatal diabetes mellitus		Conflicting interpretations of pathogenicity
(Oct 11, 2022)		criteria provided, conflicting interpretations
66.
GRCh37:
Chr11:17483260
GRCh38:
Chr11:17461713
ABCC8W231SDiabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Type II diabetes mellitus		Uncertain significance
(May 25, 2022)		criteria provided, single submitter
67.
GRCh37:
Chr11:17483127
GRCh38:
Chr11:17461580
ABCC8Diabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Type II diabetes mellitus, Maturity onset diabetes mellitus in young,
Transitory neonatal diabetes mellitus		Uncertain significance
(Aug 23, 2021)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr11:17474818
GRCh38:
Chr11:17453271
ABCC8G341R, G342RDiabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Type II diabetes mellitus		Uncertain significance
(Jan 6, 2022)		criteria provided, single submitter
69.
GRCh37:
Chr11:17464780
GRCh38:
Chr11:17443233
ABCC8A470V, A471VDiabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, familial, 1
Uncertain significance
(Aug 16, 2023)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr11:17464735
GRCh38:
Chr11:17443188
ABCC8R485Q, R486QDiabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Type II diabetes mellitus, not provided,
Type II diabetes mellitus		Uncertain significance
(Feb 22, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr11:17453756
GRCh38:
Chr11:17432209
ABCC8L555F, L556FDiabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Type II diabetes mellitus, Maturity onset diabetes mellitus in young,
Transitory neonatal diabetes mellitus		Uncertain significance
(Oct 28, 2021)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr11:17450109
GRCh38:
Chr11:17428562
ABCC8Inborn genetic diseases, Diabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3,
Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia, Type II diabetes mellitus,
Maturity onset diabetes mellitus in young, Transitory neonatal diabetes mellitus		Uncertain significance
(Nov 15, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr11:17430006
GRCh38:
Chr11:17408459
ABCC8R917K, R918K, R919K, R940KDiabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Type II diabetes mellitus, Maturity onset diabetes mellitus in young,
Transitory neonatal diabetes mellitus		Uncertain significance
(Nov 29, 2021)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr11:17428952
GRCh38:
Chr11:17407405
ABCC8R956G, R957G, R958G, R979GDiabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Type II diabetes mellitus, Maturity onset diabetes mellitus in young,
Transitory neonatal diabetes mellitus		Uncertain significance
(Mar 3, 2022)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr11:17428659
GRCh38:
Chr11:17407112
ABCC8E1002K, E979K, E980K, E981KInborn genetic diseases, Diabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3,
Hyperinsulinemic hypoglycemia, familial, 1, Leucine-induced hypoglycemia, Type II diabetes mellitus,
Maturity onset diabetes mellitus in young, Transitory neonatal diabetes mellitus		Uncertain significance
(Apr 1, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr11:17426123
GRCh38:
Chr11:17404576
ABCC8V1164M, V1165M, V1166M, V1187MDiabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Type II diabetes mellitus		Uncertain significance
(May 27, 2022)		criteria provided, single submitter
77.
GRCh37:
Chr11:17424209
GRCh38:
Chr11:17402662
ABCC8R1216G, R1217G, R1218G, R1239GDiabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Type II diabetes mellitus, Maturity onset diabetes mellitus in young,
Transitory neonatal diabetes mellitus		Uncertain significance
(Mar 28, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr11:17418721
GRCh38:
Chr11:17397174
ABCC8Diabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Type II diabetes mellitus, Maturity onset diabetes mellitus in young,
Transitory neonatal diabetes mellitus		Uncertain significance
(Nov 3, 2021)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr11:17417179
GRCh38:
Chr11:17395632
ABCC8V1428I, V1429I, V1430I, V1451IDiabetes mellitus, transient neonatal, 2, Diabetes mellitus, permanent neonatal 3, Hyperinsulinemic hypoglycemia, familial, 1,
Leucine-induced hypoglycemia, Type II diabetes mellitus, Maturity onset diabetes mellitus in young,
Transitory neonatal diabetes mellitus		Uncertain significance
(May 17, 2022)		criteria provided, multiple submitters, no conflicts
80.
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
81.
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
82.
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
83.
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
84.
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
85.
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
86.
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
87.
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
88.
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
89.
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
90.
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
91.
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
92.
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
93.
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
94.
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
95.
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
96.
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
97.
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
98.
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
99.
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
100.
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
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