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Links from MedGen

Items: 1 to 100 of 118

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr5:60198294
GRCh38:
Chr5:60902467
ERCC8Y140fs, Y198fs, Y45fsCockayne syndrome type 1Likely pathogenic
(Jan 2, 2022)		criteria provided, single submitter
2.
GRCh37:
Chr5:60217881-60217882
GRCh38:
Chr5:60922054-60922055
ERCC8R34fs, R92fsCockayne syndrome type 1Likely pathogenic
(May 8, 2022)		criteria provided, single submitter
3.
GRCh37:
Chr5:60200639-60200640
GRCh38:
Chr5:60904812-60904813
ERCC8T154fs, T96fsCockayne syndrome type 1Likely pathogenic
(Dec 6, 2021)		criteria provided, single submitter
4.
GRCh37:
Chr5:60198327
GRCh38:
Chr5:60902500
ERCC8Q129*, Q187*, Q34*Cockayne syndrome type 1Likely pathogenic
(Feb 7, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr5:60198312-60198314
GRCh38:
Chr5:60902485-60902487
ERCC8A133del, A191del, A38delCockayne syndrome type 1Likely pathogeniccriteria provided, single submitter
6.
GRCh37:
Chr5:60199502
GRCh38:
Chr5:60903675
ERCC8S117P, S175P, S22PCockayne syndrome type 1Likely pathogeniccriteria provided, single submitter
7.
GRCh37:
Chr5:60214101
GRCh38:
Chr5:60918274
ERCC8, ERCC8-AS1Y5HCockayne syndrome type 1, UV-sensitive syndrome 2, not provided
Likely benign
(May 23, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr5:60224769
GRCh38:
Chr5:60928942
ERCC8L32*Cockayne syndrome type 1Likely pathogenic
(Dec 28, 2019)		criteria provided, single submitter
9.
GRCh37:
Chr5:60217974
GRCh38:
Chr5:60922147
ERCC8S3*, S61*Cockayne syndrome type 1, not providedPathogenic/Likely pathogenic
(May 22, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr5:60214191
GRCh38:
Chr5:60918364
ERCC8, ERCC8-AS1Y100*, Y42*Cockayne syndrome type 1Likely pathogenic
(May 19, 2019)		criteria provided, single submitter
11.
GRCh37:
Chr5:60214094
GRCh38:
Chr5:60918267
ERCC8, ERCC8-AS1Q133*, Q75*, T7ICockayne syndrome type 1Likely pathogenic
(Mar 11, 2020)		criteria provided, single submitter
12.
GRCh37:
Chr5:60195530
GRCh38:
Chr5:60899703
ERCC8W156*, W214*, W61*Cockayne syndrome type 1Likely pathogenic
(Dec 25, 2019)		criteria provided, single submitter
13.
GRCh37:
Chr5:60186854
GRCh38:
Chr5:60891027
ERCC8C148*, C243*, C301*Cockayne syndrome type 1Likely pathogenic
(Jan 31, 2020)		criteria provided, single submitter
14.
GRCh37:
Chr5:60186781
GRCh38:
Chr5:60890954
ERCC8Q173*, Q268*, Q326*Cockayne syndrome type 1Likely pathogenic
(Feb 3, 2020)		criteria provided, single submitter
15.
GRCh37:
Chr5:60217954
GRCh38:
Chr5:60922127
ERCC8I10F, I68FCockayne syndrome type 1Pathogenicno assertion criteria provided
16.
GRCh37:
Chr5:60194149
GRCh38:
Chr5:60898322
ERCC8D113A, D208A, D266ACockayne syndrome type 1Likely pathogeniccriteria provided, single submitter
17.
GRCh37:
Chr5:60240868
GRCh38:
Chr5:60945041
ERCC8Cockayne syndrome type 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
18.
GRCh37:
Chr5:60170474
GRCh38:
Chr5:60874647
ERCC8D329H, D387H, D234HCockayne syndrome type 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
19.
GRCh37:
Chr5:60170435
GRCh38:
Chr5:60874608
ERCC8Cockayne syndrome type 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
20.
GRCh37:
Chr5:60170329
GRCh38:
Chr5:60874502
ERCC8Cockayne syndrome type 1Uncertain significance
(Jan 15, 2018)		criteria provided, single submitter
21.
GRCh37:
Chr5:60170326
GRCh38:
Chr5:60874499
ERCC8Cockayne syndrome type 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
22.
GRCh37:
Chr5:60214189
GRCh38:
Chr5:60918362
ERCC8, ERCC8-AS1S101T, S43TCockayne syndrome type 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
23.
GRCh37:
Chr5:60214109
GRCh38:
Chr5:60918282
ERCC8, ERCC8-AS1D70N, D128N, G2ECockayne syndrome type 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
24.
GRCh37:
Chr5:60214089
GRCh38:
Chr5:60918262
ERCC8, ERCC8-AS1Cockayne syndrome type 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
25.
GRCh37:
Chr5:60200681
GRCh38:
Chr5:60904854
ERCC8F82C, F140CCockayne syndrome type 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
26.
GRCh37:
Chr5:60170065
GRCh38:
Chr5:60874238
ERCC8Cockayne syndrome type 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
27.
GRCh37:
Chr5:60169984
GRCh38:
Chr5:60874157
ERCC8Cockayne syndrome type 1Benign
(Jan 13, 2018)		criteria provided, single submitter
28.
GRCh37:
Chr5:60169859
GRCh38:
Chr5:60874032
ERCC8Cockayne syndrome type 1Benign
(Jan 13, 2018)		criteria provided, single submitter
29.
GRCh37:
Chr5:60169840
GRCh38:
Chr5:60874013
ERCC8Cockayne syndrome type 1Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
30.
GRCh37:
Chr5:60169798
GRCh38:
Chr5:60873971
ERCC8Cockayne syndrome type 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
31.
GRCh37:
Chr5:60199540
GRCh38:
Chr5:60903713
ERCC8G162D, G104D, G9DCockayne syndrome type 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
32.
GRCh37:
Chr5:60198296
GRCh38:
Chr5:60902469
ERCC8R44H, R197H, R139HCockayne syndrome type 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
33.
GRCh37:
Chr5:60186885
GRCh38:
Chr5:60891058
ERCC8S138N, S233N, S291NCockayne syndrome type 1, Inborn genetic diseasesUncertain significance
(Jan 18, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr5:60186846
GRCh38:
Chr5:60891019
ERCC8S151N, S246N, S304NCockayne syndrome type 1, not providedUncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr5:60186812
GRCh38:
Chr5:60890985
ERCC8Cockayne syndrome type 1, not providedConflicting interpretations of pathogenicity
(May 6, 2022)		criteria provided, conflicting interpretations
36.
GRCh37:
Chr5:60217971
GRCh38:
Chr5:60922144
ERCC8G62D, G4DCockayne syndrome type 1Uncertain significanceno assertion criteria provided
37.
GRCh37:
Chr5:60194144
GRCh38:
Chr5:60898317
ERCC8R115*, R210*, R268*Cockayne syndrome, UV-sensitive syndrome 2, Cockayne syndrome type 1,
not provided		Pathogenic/Likely pathogenic
(Mar 30, 2023)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr5:60200618
GRCh38:
Chr5:60904791
ERCC8Cockayne syndrome type 1Pathogenic
(Jun 11, 2019)		criteria provided, single submitter
39.
GRCh37:
Chr5:60186734
GRCh38:
Chr5:60890907
ERCC8Cockayne syndrome type 1, not providedConflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
40.
GRCh37:
Chr5:60195517
GRCh38:
Chr5:60899690
ERCC8A161P, A66P, A219PCockayne syndrome type 1, not providedConflicting interpretations of pathogenicity
(Oct 11, 2022)		criteria provided, conflicting interpretations
41.
GRCh37:
Chr5:60199521
GRCh38:
Chr5:60903694
ERCC8not provided, Cockayne syndrome type 1Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr5:60200619
GRCh38:
Chr5:60904792
ERCC8V103I, V161ICockayne syndrome, not provided, Cockayne syndrome type 1
Conflicting interpretations of pathogenicity
(May 31, 2023)		criteria provided, conflicting interpretations
43.
GRCh37:
Chr5:60195522
GRCh38:
Chr5:60899695
ERCC8R159fs, R64fs, R217fsCockayne syndrome type 1, not providedPathogenic
(Aug 20, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr5:60214170-60214171
GRCh38:
Chr5:60918343-60918344
ERCC8, ERCC8-AS1W49*, W107*Cockayne syndrome type 1, not providedPathogenic/Likely pathogenic
(Aug 28, 2021)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr5:60164820-60244992
ERCC8, NDUFAF2Cockayne syndrome type 1Pathogenic
(Jan 17, 2018)		criteria provided, single submitter
46.
GRCh37:
Chr5:60194177
GRCh38:
Chr5:60898350
ERCC8G257R, G104R, G199Rnot provided, Cockayne syndrome, Cockayne syndrome type 1,
UV-sensitive syndrome 2, Cockayne syndrome type 1		Pathogenic/Likely pathogenic
(Nov 2, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr5:60224788
GRCh38:
Chr5:60928961
ERCC8Cockayne syndrome type 1Pathogenic
(Sep 1, 2018)		no assertion criteria provided
48.
GRCh37:
Chr5:60214177-60214178
GRCh38:
Chr5:60918350-60918351
ERCC8, ERCC8-AS1V105fs, V47fsnot provided, Cockayne syndrome type 1Pathogenic
(Apr 6, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr5:60186829
GRCh38:
Chr5:60891002
ERCC8V310fs, V157fs, V252fsCockayne syndrome type 1Likely pathogenic
(Jun 4, 2018)		criteria provided, single submitter
50.
GRCh37:
Chr5:60198336
GRCh38:
Chr5:60902509
ERCC8Cockayne syndrome type 1Pathogenic
(May 29, 2018)		criteria provided, single submitter
51.
GRCh37:
Chr5:60183266
GRCh38:
Chr5:60887439
ERCC8Cockayne syndrome type 1Likely pathogenic
(May 21, 2018)		criteria provided, single submitter
52.
GRCh37:
Chr5:60194102
GRCh38:
Chr5:60898275
ERCC8not provided, Cockayne syndrome type 1Pathogenic/Likely pathogenic
(Jul 27, 2021)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr5:60241095
GRCh38:
Chr5:60945268
ERCC8, NDUFAF2Q5*Cockayne syndrome type 1Uncertain significance
(May 10, 2018)		criteria provided, single submitter
54.
GRCh37:
Chr5:60241191
GRCh38:
Chr5:60945364
ERCC8, NDUFAF2Q37*Cockayne syndrome type 1Uncertain significance
(Apr 18, 2018)		criteria provided, single submitter
55.
GRCh37:
Chr5:60183348
GRCh38:
Chr5:60887521
ERCC8Cockayne syndrome type 1Likely pathogenic
(Apr 18, 2018)		criteria provided, single submitter
56.
GRCh37:
Chr5:60170441-60170447
GRCh38:
Chr5:60874614-60874620
ERCC8G396fs, G243fs, G338fsCockayne syndrome type 1Uncertain significance
(Mar 5, 2018)		criteria provided, single submitter
57.
GRCh37:
Chr5:60186751
GRCh38:
Chr5:60890924
ERCC8T278fs, T336fs, T183fsCockayne syndrome type 1Uncertain significance
(Mar 1, 2018)		criteria provided, single submitter
58.
GRCh37:
Chr5:60170447-60170449
GRCh38:
Chr5:60874620-60874622
ERCC8E395del, E242del, E337delCockayne syndrome type 1Uncertain significance
(Feb 15, 2018)		criteria provided, single submitter
59.
GRCh37:
Chr5:60198322-60198324
GRCh38:
Chr5:60902495-60902497
ERCC8E188del, E130del, E35delnot provided, Cockayne syndrome type 1Uncertain significance
(Jun 27, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr5:60170496
GRCh38:
Chr5:60874669
ERCC8Q322fs, Q380fs, Q227fsCockayne syndrome type 1Uncertain significance
(Dec 22, 2017)		criteria provided, single submitter
61.
GRCh37:
Chr5:60214093-60214097
GRCh38:
Chr5:60918266-60918270
ERCC8, ERCC8-AS1I6fs, L132fs, L74fsCockayne syndrome type 1, not providedPathogenic
(Jul 23, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr5:60195493
GRCh38:
Chr5:60899666
ERCC8D227fs, D74fs, D169fsCockayne syndrome type 1, not providedPathogenic/Likely pathogenic
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr5:60224690
GRCh38:
Chr5:60928863
ERCC8not provided, Cockayne syndrome type 1Pathogenic/Likely pathogenic
(Sep 11, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr5:60214217
GRCh38:
Chr5:60918390
ERCC8, ERCC8-AS1not provided, Cockayne syndrome type 1Likely pathogenic
(Aug 12, 2021)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr5:60170508
GRCh38:
Chr5:60874681
ERCC8T376fs, T223fs, T318fsCockayne syndrome type 1Uncertain significance
(Sep 21, 2017)		criteria provided, single submitter
66.
GRCh37:
Chr5:60198285-60198286
GRCh38:
Chr5:60902458-60902459
ERCC8I48fs, I201fs, I143fsnot provided, Cockayne syndrome type 1Pathogenic/Likely pathogenic
(Feb 7, 2023)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr5:60240757
GRCh38:
Chr5:60944930
ERCC8not provided, Cockayne syndrome type 1Likely pathogenic
(Mar 26, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr5:60199545
GRCh38:
Chr5:60903718
ERCC8not provided, Cockayne syndrome type 1Likely pathogenic
(Mar 19, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr5:60194229
GRCh38:
Chr5:60898402
ERCC8Cockayne syndrome type 1Likely pathogenic
(Jun 21, 2017)		criteria provided, single submitter
70.
GRCh37:
Chr5:60200656-60200658
GRCh38:
Chr5:60904829-60904831
ERCC8H148del, H90delCockayne syndrome type 1Uncertain significance
(May 17, 2017)		criteria provided, single submitter
71.
GRCh37:
Chr5:60183349
GRCh38:
Chr5:60887522
ERCC8not provided, UV-sensitive syndrome 2, Cockayne syndrome type 1,
Cockayne syndrome type 1		Pathogenic/Likely pathogenic
(Sep 26, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr5:60183348
GRCh38:
Chr5:60887521
ERCC8Cockayne syndrome type 1Likely pathogenic
(Apr 18, 2017)		criteria provided, single submitter
73.
GRCh37:
Chr5:60195555
GRCh38:
Chr5:60899728
ERCC8not provided, Cockayne syndrome type 1Pathogenic
(Jun 8, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr5:60194229
GRCh38:
Chr5:60898402
ERCC8Cockayne syndrome type 1Likely pathogenic
(Jan 11, 2017)		criteria provided, single submitter
75.
GRCh37:
Chr5:60183293-60183294
GRCh38:
Chr5:60887466-60887467
ERCC8Y308fs, Y366fs, Y213fsCockayne syndrome type 1Uncertain significance
(Nov 21, 2017)		criteria provided, single submitter
76.
GRCh37:
Chr5:60214091
GRCh38:
Chr5:60918264
ERCC8, ERCC8-AS1not provided, Cockayne syndrome type 1Likely pathogenic
(Nov 26, 2021)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr5:60186745
GRCh38:
Chr5:60890918
ERCC8D338N, D185N, D280Nnot provided, UV-sensitive syndrome 2, Cockayne syndrome type 1,
Cockayne syndrome type 1		Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr5:60223533
GRCh38:
Chr5:60927706
ERCC8Cockayne syndrome type 1Benign
(Jun 15, 2017)		no assertion criteria provided
79.
GRCh37:
Chr5:60214194-60214196
GRCh38:
Chr5:60918367-60918369
ERCC8, ERCC8-AS1R41fs, R99fsnot provided, Cockayne syndrome type 1Pathogenic
(Oct 24, 2021)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr5:60195520-60195521
GRCh38:
Chr5:60899693-60899694
ERCC8R218*, R160*, R65*not provided, Cockayne syndrome type 1Pathogenic/Likely pathogenic
(Jun 26, 2017)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr5:60241196
GRCh38:
Chr5:60945369
ERCC8, NDUFAF2Y38*Mitochondrial complex 1 deficiency, nuclear type 10, Mitochondrial complex I deficiency, nuclear type 1, Cockayne syndrome type 1,
not specified, not provided		Conflicting interpretations of pathogenicity
(May 26, 2023)		criteria provided, conflicting interpretations
82.
GRCh37:
Chr5:60223572
GRCh38:
Chr5:60927745
ERCC8Cockayne syndrome type 1, not providedPathogenic/Likely pathogenic
(Jun 23, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr5:60214191
GRCh38:
Chr5:60918364
ERCC8, ERCC8-AS1Y100*, Y42*Cockayne syndrome, UV-sensitive syndrome 2, Cockayne syndrome type 1,
not provided		Pathogenic
(Dec 8, 2022)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr5:60241100
GRCh38:
Chr5:60945273
ERCC8, NDUFAF2D6ELeigh syndrome, Cockayne syndrome type 1, Mitochondrial complex I deficiency
Uncertain significance
(Aug 1, 2017)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr5:60240860
GRCh38:
Chr5:60945033
ERCC8Cockayne syndrome type 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
86.
GRCh37:
Chr5:60240858
GRCh38:
Chr5:60945031
ERCC8Cockayne syndrome, not provided, Cockayne syndrome type 1
Benign/Likely benign
(Jul 10, 2018)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr5:60240770
GRCh38:
Chr5:60944943
ERCC8not provided, Cockayne syndrome type 1Conflicting interpretations of pathogenicity
(Oct 18, 2022)		criteria provided, conflicting interpretations
88.
GRCh37:
Chr5:60224715
GRCh38:
Chr5:60928888
ERCC8D50Gnot provided, Cockayne syndrome type 1Conflicting interpretations of pathogenicity
(Oct 5, 2022)		criteria provided, conflicting interpretations
89.
GRCh37:
Chr5:60224682
GRCh38:
Chr5:60928855
ERCC8not provided, Cockayne syndrome type 1Conflicting interpretations of pathogenicity
(Oct 26, 2022)		criteria provided, conflicting interpretations
90.
GRCh37:
Chr5:60214180
GRCh38:
Chr5:60918353
ERCC8, ERCC8-AS1T104S, T46SCockayne syndrome type 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
91.
GRCh37:
Chr5:60200691
GRCh38:
Chr5:60904864
ERCC8V137I, V79Inot provided, Cockayne syndrome type 1Uncertain significance
(Jun 14, 2022)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr5:60200670
GRCh38:
Chr5:60904843
ERCC8V144I, V86Inot provided, Cockayne syndrome type 1Uncertain significance
(Aug 19, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr5:60200628
GRCh38:
Chr5:60904801
ERCC8not provided, Cockayne syndrome type 1Conflicting interpretations of pathogenicity
(Oct 3, 2022)		criteria provided, conflicting interpretations
94.
GRCh37:
Chr5:60198345
GRCh38:
Chr5:60902518
ERCC8not provided, Cockayne syndrome type 1Conflicting interpretations of pathogenicity
(May 14, 2022)		criteria provided, conflicting interpretations
95.
GRCh37:
Chr5:60194134
GRCh38:
Chr5:60898307
ERCC8L271P, L118P, L213PCockayne syndrome type 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
96.
GRCh37:
Chr5:60183319
GRCh38:
Chr5:60887492
ERCC8N357S, N204S, N299Snot provided, Cockayne syndrome type 1Uncertain significance
(Sep 12, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr5:60183284
GRCh38:
Chr5:60887457
ERCC8V369L, V311L, V216Lnot provided, Cockayne syndrome type 1Likely benign
(Oct 29, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr5:60170406
GRCh38:
Chr5:60874579
ERCC8not provided, Cockayne syndrome type 1Benign
(Jul 10, 2018)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr5:60170337
GRCh38:
Chr5:60874510
ERCC8not provided, Cockayne syndrome type 1Benign
(Jul 9, 2018)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr5:60170205
GRCh38:
Chr5:60874378
ERCC8not provided, Cockayne syndrome type 1Benign/Likely benign
(Jul 6, 2018)		criteria provided, multiple submitters, no conflicts
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