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Links from MedGen

Items: 39

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:29643148
GRCh38:
Chr6:29675371
ZFP57Diabetes mellitus, transient neonatal, 1Likely benign
(Mar 23, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr6:29641176-29641177
GRCh38:
Chr6:29673399-29673400
ZFP57K166fs, K238fsDiabetes mellitus, transient neonatal, 1Likely pathogenic
(Aug 17, 2021)
criteria provided, single submitter
3.
GRCh37:
Chr6:29643827
GRCh38:
Chr6:29676050
ZFP57T45fsDiabetes mellitus, transient neonatal, 1Pathogenic
(Jun 11, 2020)
criteria provided, single submitter
4.
GRCh37:
Chr6:29644633
GRCh38:
Chr6:29676856
ZFP57Diabetes mellitus, transient neonatal, 1, not providedBenign
(Dec 5, 2021)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr6:29640658
GRCh38:
Chr6:29672881
ZFP57Diabetes mellitus, transient neonatal, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr6:29641356
GRCh38:
Chr6:29673579
ZFP57Y106H, Y178Hnot provided, Monogenic diabetes, Diabetes mellitus, transient neonatal, 1
Conflicting interpretations of pathogenicity
(Sep 1, 2023)
criteria provided, conflicting interpretations
7.
GRCh37:
Chr6:29641156
GRCh38:
Chr6:29673379
ZFP57not specified, not provided, Diabetes mellitus, transient neonatal, 1
Benign/Likely benign
(Sep 13, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr6:29641062
GRCh38:
Chr6:29673285
ZFP57R276C, R204Cnot provided, Diabetes mellitus, transient neonatal, 1Uncertain significance
(Jul 8, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr6:29641045
GRCh38:
Chr6:29673268
ZFP57not provided, Diabetes mellitus, transient neonatal, 1Benign/Likely benign
(Sep 1, 2023)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr6:29640951
GRCh38:
Chr6:29673174
ZFP57R313G, R241Gnot provided, Monogenic diabetes, Diabetes mellitus, transient neonatal, 1
Benign
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr6:29640855
GRCh38:
Chr6:29673078
ZFP57A273P, A345Pnot provided, Monogenic diabetes, Diabetes mellitus, transient neonatal, 1
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
12.
GRCh37:
Chr6:29641164
GRCh38:
Chr6:29673387
ZFP57D242Y, D170YDiabetes mellitus, transient neonatal, 1Uncertain significance
(Nov 28, 2017)
no assertion criteria provided
13.
GRCh37:
Chr6:29644669
GRCh38:
Chr6:29676892
ZFP57R38WDiabetes mellitus, transient neonatal, 1, not provided, Monogenic diabetes
Benign
(Jul 22, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr6:29643238
GRCh38:
Chr6:29675461
ZFP57L93V, L21VDiabetes mellitus, transient neonatal, 1, not providedUncertain significance
(Aug 30, 2021)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr6:29643230
GRCh38:
Chr6:29675453
ZFP57Diabetes mellitus, transient neonatal, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr6:29641413
GRCh38:
Chr6:29673636
ZFP57T159S, T87SDiabetes mellitus, transient neonatal, 1, not provided, Monogenic diabetes
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr6:29641397
GRCh38:
Chr6:29673620
ZFP57R164Q, R92QTransitory neonatal diabetes mellitus, Diabetes mellitus, transient neonatal, 1, not provided,
Monogenic diabetes
Benign/Likely benign
(Oct 29, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr6:29641393
GRCh38:
Chr6:29673616
ZFP57Diabetes mellitus, transient neonatal, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr6:29641335
GRCh38:
Chr6:29673558
ZFP57S185G, S113GDiabetes mellitus, transient neonatal, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr6:29641139
GRCh38:
Chr6:29673362
ZFP57R250H, R178HInborn genetic diseases, Diabetes mellitus, transient neonatal, 1Uncertain significance
(Jul 5, 2023)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr6:29641136
GRCh38:
Chr6:29673359
ZFP57R251H, R179HDiabetes mellitus, transient neonatal, 1, Inborn genetic diseasesUncertain significance
(Oct 29, 2021)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr6:29641090
GRCh38:
Chr6:29673313
ZFP57Diabetes mellitus, transient neonatal, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr6:29641031
GRCh38:
Chr6:29673254
ZFP57P286L, P214LDiabetes mellitus, transient neonatal, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr6:29640416
GRCh38:
Chr6:29672639
ZFP57T491S, T419SMonogenic diabetes, Inborn genetic diseases, Diabetes mellitus, transient neonatal, 1,
not provided
Conflicting interpretations of pathogenicity
(Sep 1, 2023)
criteria provided, conflicting interpretations
25.
GRCh37:
Chr6:29641329
GRCh38:
Chr6:29673552
ZFP57R187C, R115Cnot provided, Diabetes mellitus, transient neonatal, 1Benign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr6:29641514
GRCh38:
Chr6:29673737
ZFP57R125Q, R53QMonogenic diabetes, Transitory neonatal diabetes mellitus, not specified,
not provided, Diabetes mellitus, transient neonatal, 1
Conflicting interpretations of pathogenicity
(Oct 25, 2022)
criteria provided, conflicting interpretations
27.
GRCh37:
Chr6:29640785
GRCh38:
Chr6:29673008
ZFP57D368V, D296Vnot provided, Diabetes mellitus, transient neonatal, 1Benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr6:29641105
GRCh38:
Chr6:29673328
ZFP57not specified, not provided, Diabetes mellitus, transient neonatal, 1
Benign/Likely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr6:29641295
GRCh38:
Chr6:29673518
ZFP57N198S, N126SMonogenic diabetes, not specified, not provided,
Diabetes mellitus, transient neonatal, 1
Benign
(Sep 30, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr6:29644668
GRCh38:
Chr6:29676891
ZFP57R38Qnot provided, Diabetes mellitus, transient neonatal, 1Conflicting interpretations of pathogenicity
(Oct 25, 2022)
criteria provided, conflicting interpretations
31.
GRCh37:
Chr6:29640770
GRCh38:
Chr6:29672993
ZFP57S373C, S301Cnot provided, Diabetes mellitus, transient neonatal, 1Conflicting interpretations of pathogenicity
(Aug 9, 2022)
criteria provided, conflicting interpretations
32.
GRCh37:
Chr6:29640802
GRCh38:
Chr6:29673025
ZFP57not specified, not provided, Diabetes mellitus, transient neonatal, 1
Benign/Likely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr6:29640983-29640990
GRCh38:
Chr6:29673206-29673213
ZFP57Diabetes mellitus, transient neonatal, 1Pathogenic
(Aug 1, 2008)
no assertion criteria provided
34.
GRCh37:
Chr6:29641059
GRCh38:
Chr6:29673282
ZFP57H277N, H205NDiabetes mellitus, transient neonatal, 1Pathogenic
(Aug 1, 2008)
no assertion criteria provided
35.
GRCh37:
Chr6:29641145
GRCh38:
Chr6:29673368
ZFP57R248H, R176HDiabetes mellitus, transient neonatal, 1Pathogenic
(Aug 1, 2008)
no assertion criteria provided
36.
GRCh37:
Chr6:29640516
GRCh38:
Chr6:29672739
ZFP57H458D, H386DDiabetes mellitus, transient neonatal, 1Pathogenic
(Aug 1, 2008)
no assertion criteria provided
37.
GRCh37:
Chr6:29640505
GRCh38:
Chr6:29672728
ZFP57Y390fs, Y462fsDiabetes mellitus, transient neonatal, 1Pathogenic
(Aug 1, 2008)
no assertion criteria provided
38.
GRCh37:
Chr6:29643197-29643198
GRCh38:
Chr6:29675420-29675421
ZFP57E34fs, E106fsDiabetes mellitus, transient neonatal, 1Pathogenic
(Aug 1, 2008)
no assertion criteria provided
39.
GRCh37:
Chr6:29641105
GRCh38:
Chr6:29673328
ZFP57C261*, C189*Diabetes mellitus, transient neonatal, 1Pathogenic
(Aug 1, 2008)
no assertion criteria provided
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