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Items: 25

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
HNF4AMaturity-onset diabetes of the young, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
2.
GRCh37:
Chr20:43034732
GRCh38:
Chr20:44406092
HNF4AMaturity-onset diabetes of the young, type 1, not specified, Maturity-onset diabetes of the young,
Hyperinsulinism, Dominant
GO-ESP:0.00108(A)
GO-ESP:0.00106(A)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
3.
GRCh37:
Chr20:43036077-43036078
GRCh38:
Chr20:44407437-44407438
HNF4AMaturity-onset diabetes of the young, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr20:43042375
GRCh38:
Chr20:44413735
HNF4AMaturity-onset diabetes of the young, type 1GO-ESP:0.00006(G)Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr20:43042395
GRCh38:
Chr20:44413755
HNF4AMaturity-onset diabetes of the young, type 1GO-ESP:0.00015(A)Likely benign
(Aug 18, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr20:43042407
GRCh38:
Chr20:44413767
HNF4AMaturity-onset diabetes of the young, type 1, not specified, Maturity-onset diabetes of the young,
Hyperinsulinism, Dominant
GO-ESP:0.00661(C)
GMAF:0.01220(C)
GO-ESP:0.00424(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr20:43042446
GRCh38:
Chr20:44413806
HNF4AMaturity-onset diabetes of the young, type 1, not specifiedGMAF:0.00080(A)
GO-ESP:0.00106(A)
Conflicting interpretations of pathogenicity
(Aug 27, 2015)
criteria provided, conflicting interpretations
8.
GRCh37:
Chr20:43043159
GRCh38:
Chr20:44414519
HNF4AMaturity-onset diabetes of the young, type 1, not provided, Maturity-onset diabetes of the young,
Hyperinsulinism, Dominant
GO-ESP:0.00015(A)
GMAF:0.00600(A)
GO-ESP:0.00234(A)
Conflicting interpretations of pathogenicity, not provided
(Jun 14, 2016)
criteria provided, conflicting interpretations
9.
GRCh37:
Chr20:43043273
GRCh38:
Chr20:44414633
HNF4AMaturity-onset diabetes of the young, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
10.
GRCh37:
Chr20:43043295-43043312
GRCh38:
Chr20:44414655-44414672
HNF4AMaturity-onset diabetes of the young, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
11.
GRCh37:
Chr20:43047142-43047144
GRCh38:
Chr20:44418502-44418504
HNF4AMaturity-onset diabetes of the young, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
12.
GRCh37:
Chr20:43047151
GRCh38:
Chr20:44418511
HNF4AMaturity-onset diabetes of the young, type 1, not specifiedGO-ESP:0.00492(G)
GMAF:0.00320(G)
GO-ESP:0.00118(G)
Benign/Likely benign, not provided
(May 22, 2015)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr20:43048386
GRCh38:
Chr20:44419746
HNF4AMaturity-onset diabetes of the young, type 1GO-ESP:0.00469(T)
GMAF:0.00400(T)
GO-ESP:0.00127(T)
Likely benign
(Aug 18, 2011)
criteria provided, single submitter
14.
GRCh37:
Chr20:43048434
GRCh38:
Chr20:44419794
HNF4AMaturity-onset diabetes of the young, type 1, not specifiedGO-ESP:0.00208(T)
GMAF:0.00380(T)
GO-ESP:0.00071(T)
Benign/Likely benign
(Aug 18, 2011)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr20:43048458
GRCh38:
Chr20:44419818
HNF4AMaturity-onset diabetes of the young, type 1GO-ESP:0.00001(C)Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
16.
GRCh37:
Chr20:43048546
GRCh38:
Chr20:44419906
HNF4AMaturity-onset diabetes of the young, type 1Uncertain significance
(Aug 18, 2011)
criteria provided, single submitter
17.
GRCh37:
Chr20:43052671
GRCh38:
Chr20:44424031
HNF4AMaturity-onset diabetes of the young, type 1GMAF:0.00020(A)
GO-ESP:0.00001(A)
Likely benign
(Aug 18, 2011)
criteria provided, single submitter
18.
GRCh37:
Chr20:43052755
GRCh38:
Chr20:44424115
HNF4AMaturity-onset diabetes of the young, type 1GO-ESP:0.00011(T)Likely benign
(Aug 18, 2011)
criteria provided, single submitter
19.
GRCh37:
Chr20:43052756
GRCh38:
Chr20:44424116
HNF4AMaturity-onset diabetes of the young, type 1, HyperinsulinemiaGO-ESP:0.00001(T)Likely pathogenic
(Jun 1, 2015)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr20:43052762
GRCh38:
Chr20:44424122
HNF4AMaturity-onset diabetes of the young, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
21.
GRCh37:
Chr20:43057008
GRCh38:
Chr20:44428368
HNF4AMaturity-onset diabetes of the young, type 1GO-ESP:0.00001(G)Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
22.
GRCh37:
Chr20:43057048
GRCh38:
Chr20:44428408
HNF4AMaturity-onset diabetes of the young, type 1, not specifiedGO-ESP:0.00500(T)
GMAF:0.00200(T)
GO-ESP:0.00383(T)
Benign/Likely benign
(Oct 21, 2016)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr20:43057098
GRCh38:
Chr20:44428458
HNF4AMaturity-onset diabetes of the young, type 1Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
24.
GRCh37:
Chr20:43058267
GRCh38:
Chr20:44429627
HNF4AMaturity-onset diabetes of the young, type 1, not specifiedGO-ESP:0.00031(G)
GO-ESP:0.00033(G)
Uncertain significance
(Nov 16, 2015)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr20:43058309
GRCh38:
Chr20:44429669
HNF4AMaturity-onset diabetes of the young, type 1GO-ESP:0.00006(A)Uncertain significance
(Aug 18, 2011)
criteria provided, single submitter
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