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Links from MedGen

Items: 1 to 100 of 269

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr10:50701246
GRCh38:
Chr10:49493200
ERCC6Q580*Cerebrooculofacioskeletal syndrome 1Likely pathogenic
(Feb 24, 2023)		criteria provided, single submitter
2.
GRCh37:
Chr10:50740989
GRCh38:
Chr10:49532943
ERCC6-PGBD3, ERCC6H8fsDE SANCTIS-CACCHIONE SYNDROME, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
Pathogenic
(Feb 24, 2023)		criteria provided, single submitter
3.
GRCh37:
Chr10:50682148
GRCh38:
Chr10:49474102
ERCC6M841ICerebrooculofacioskeletal syndrome 1Uncertain significance
(Jun 30, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr10:50690865
GRCh38:
Chr10:49482819
ERCC6not provided, Lung cancer, UV-sensitive syndrome 1,
Premature ovarian failure 11, DE SANCTIS-CACCHIONE SYNDROME, Cerebrooculofacioskeletal syndrome 1,
Cockayne syndrome type 2, Age related macular degeneration 5		Conflicting interpretations of pathogenicity
(Sep 9, 2022)		criteria provided, conflicting interpretations
5.
GRCh37:
Chr10:50668466
GRCh38:
Chr10:49460420
ERCC6F1339LCerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME, Age related macular degeneration 5,
Cockayne syndrome type 2, UV-sensitive syndrome 1, Lung cancer,
Premature ovarian failure 11, not provided, not specified
Uncertain significance
(Dec 13, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr10:50681527
GRCh38:
Chr10:49473481
ERCC6N902Snot provided, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2,
UV-sensitive syndrome 1, Age related macular degeneration 5, Premature ovarian failure 11,
Lung cancer, DE SANCTIS-CACCHIONE SYNDROME		Uncertain significance
(Nov 23, 2021)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr10:50686474
GRCh38:
Chr10:49478428
ERCC6I738LCockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2,
Lung cancer, Premature ovarian failure 11, UV-sensitive syndrome 1,
Age related macular degeneration 5, DE SANCTIS-CACCHIONE SYNDROME, not provided
Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
8.
GRCh37:
Chr10:50732755
GRCh38:
Chr10:49524709
ERCC6-PGBD3, ERCC6R241Cnot provided, DE SANCTIS-CACCHIONE SYNDROME, Cerebrooculofacioskeletal syndrome 1,
Cockayne syndrome type 2, UV-sensitive syndrome 1, Age related macular degeneration 5,
Premature ovarian failure 11, Lung cancer		Uncertain significance
(Jun 20, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr10:50708585
GRCh38:
Chr10:49500539
ERCC6R562WCerebrooculofacioskeletal syndrome 1Likely pathogenic
(Oct 2, 2021)		criteria provided, single submitter
10.
GRCh37:
Chr10:50684228
GRCh38:
Chr10:49476182
ERCC6UV-sensitive syndrome 1, not provided, Cockayne syndrome type 2,
DE SANCTIS-CACCHIONE SYNDROME, Cerebrooculofacioskeletal syndrome 1		Benign
(Jul 30, 2021)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr10:50701164
GRCh38:
Chr10:49493118
ERCC6K607MCerebrooculofacioskeletal syndrome 1, Age related macular degeneration 5, Premature ovarian failure 11,
Cockayne syndrome type 2, UV-sensitive syndrome 1, DE SANCTIS-CACCHIONE SYNDROME,
Lung cancer, not provided		Uncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr10:50678227
GRCh38:
Chr10:49470181
ERCC6Cerebrooculofacioskeletal syndrome 1Likely pathogenic
(Jul 22, 2021)		criteria provided, single submitter
13.
GRCh37:
Chr10:50732672
GRCh38:
Chr10:49524626
ERCC6, ERCC6-PGBD3DE SANCTIS-CACCHIONE SYNDROME, Age related macular degeneration 5, UV-sensitive syndrome 1,
Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, Lung cancer,
Premature ovarian failure 11, not provided		Likely benign
(Apr 11, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr10:50678244
GRCh38:
Chr10:49470198
ERCC6K1254NCerebrooculofacioskeletal syndrome 1Uncertain significance
(Jan 30, 2018)		criteria provided, single submitter
15.
GRCh37:
Chr10:50690808-50690809
GRCh38:
Chr10:49482762-49482763
ERCC6T699fsCerebrooculofacioskeletal syndrome 1, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2,
Premature ovarian failure 11, DE SANCTIS-CACCHIONE SYNDROME, UV-sensitive syndrome 1,
Age related macular degeneration 5, Lung cancer, not provided
Pathogenic
(Sep 20, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr10:50740722
GRCh38:
Chr10:49532676
ERCC6, ERCC6-PGBD3V97MCerebrooculofacioskeletal syndrome 1Uncertain significance
(Mar 19, 2020)		criteria provided, single submitter
17.
GRCh37:
Chr10:50691468
GRCh38:
Chr10:49483422
ERCC6D639Gnot provided, Cerebrooculofacioskeletal syndrome 1Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr10:50691550
Chr10:50701257
GRCh38:
Chr10:49483504
Chr10:49493211
ERCC6, ERCC6R612*, T576RCerebrooculofacioskeletal syndrome 1Pathogenic
(May 31, 2019)		no assertion criteria provided
19.
GRCh37:
Chr10:50724869
GRCh38:
Chr10:49516823
ERCC6, ERCC6-PGBD3, PGBD3Q566*, Q98*Cerebrooculofacioskeletal syndrome 1Uncertain significance
(Jun 24, 2019)		criteria provided, single submitter
20.
GRCh37:
Chr10:50680506
GRCh38:
Chr10:49472460
ERCC6, LOC126860933R947QCerebrooculofacioskeletal syndrome 1, not providedUncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr10:50701310
GRCh38:
Chr10:49493264
ERCC6not provided, Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1,
Cockayne syndrome type 2		Conflicting interpretations of pathogenicity
(Sep 23, 2022)		criteria provided, conflicting interpretations
22.
GRCh37:
Chr10:50669480
GRCh38:
Chr10:49461434
ERCC6R1301CAge related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, not provided,
Cockayne syndrome type 2		Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr10:50666615
GRCh38:
Chr10:49458569
ERCC6Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
24.
GRCh37:
Chr10:50664321
GRCh38:
Chr10:49456275
ERCC6Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
Uncertain significance
(Mar 30, 2018)		criteria provided, single submitter
25.
GRCh37:
Chr10:50664259
GRCh38:
Chr10:49456213
ERCC6Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
26.
GRCh37:
Chr10:50663505
GRCh38:
Chr10:49455459
ERCC6Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
27.
GRCh37:
Chr10:50663495
GRCh38:
Chr10:49455449
ERCC6Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
28.
GRCh37:
Chr10:50732518
GRCh38:
Chr10:49524472
ERCC6, ERCC6-PGBD3V320LAge related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
29.
GRCh37:
Chr10:50662653
GRCh38:
Chr10:49454607
ERCC6Cockayne syndrome type 2, Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1
Likely benign
(Jan 13, 2018)		criteria provided, single submitter
30.
GRCh37:
Chr10:50732239
GRCh38:
Chr10:49524193
PGBD3, ERCC6-PGBD3, ERCC6R413Wnot specified, not provided, Cerebrooculofacioskeletal syndrome 1,
Age related macular degeneration 5, Cockayne syndrome type 2		Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr10:50666048
GRCh38:
Chr10:49458002
ERCC6Cerebrooculofacioskeletal syndrome 1, Age related macular degeneration 5, Cockayne syndrome type 2
Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
32.
GRCh37:
Chr10:50664830
GRCh38:
Chr10:49456784
ERCC6Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
33.
GRCh37:
Chr10:50664199
GRCh38:
Chr10:49456153
ERCC6Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
34.
GRCh37:
Chr10:50664181
GRCh38:
Chr10:49456135
ERCC6Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
35.
GRCh37:
Chr10:50738895
GRCh38:
Chr10:49530849
ERCC6, ERCC6-PGBD3not provided, Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1,
Cockayne syndrome type 2		Conflicting interpretations of pathogenicity
(Sep 24, 2022)		criteria provided, conflicting interpretations
36.
GRCh37:
Chr10:50738893
GRCh38:
Chr10:49530847
ERCC6-PGBD3, ERCC6not provided, Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1,
Cockayne syndrome type 2		Conflicting interpretations of pathogenicity
(Sep 10, 2020)		criteria provided, conflicting interpretations
37.
GRCh37:
Chr10:50738878
GRCh38:
Chr10:49530832
ERCC6-PGBD3, ERCC6T144Mnot provided, Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1,
Cockayne syndrome type 2		Conflicting interpretations of pathogenicity
(Oct 27, 2022)		criteria provided, conflicting interpretations
38.
GRCh37:
Chr10:50663466
GRCh38:
Chr10:49455420
ERCC6Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
Benign
(Jan 12, 2018)		criteria provided, single submitter
39.
GRCh37:
Chr10:50663177
GRCh38:
Chr10:49455131
ERCC6Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
40.
GRCh37:
Chr10:50663157
GRCh38:
Chr10:49455111
ERCC6Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
Uncertain significance
(Jan 15, 2018)		criteria provided, single submitter
41.
GRCh37:
Chr10:50690821
GRCh38:
Chr10:49482775
ERCC6P694Lnot provided, Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1,
Age related macular degeneration 5		Uncertain significance
(Aug 21, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr10:50681008
GRCh38:
Chr10:49472962
ERCC6, LOC126860933A926PCerebrooculofacioskeletal syndrome 1, Age related macular degeneration 5, Cockayne syndrome type 2
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
43.
GRCh37:
Chr10:50669419
GRCh38:
Chr10:49461373
ERCC6S1321Cnot provided, Cerebrooculofacioskeletal syndrome 1Conflicting interpretations of pathogenicity
(Oct 18, 2022)		criteria provided, conflicting interpretations
44.
GRCh37:
Chr10:50667048
GRCh38:
Chr10:49459002
ERCC6R1432KAge related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
45.
GRCh37:
Chr10:50667037
GRCh38:
Chr10:49458991
ERCC6A1436TAge related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2,
not provided		Uncertain significance
(Sep 24, 2022)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr10:50732097
GRCh38:
Chr10:49524051
PGBD3, ERCC6-PGBD3, ERCC6Y460SAge related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2,
not provided		Uncertain significance
(Jul 25, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr10:50686482
GRCh38:
Chr10:49478436
ERCC6R735LAge related macular degeneration 5, Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1,
not provided		Conflicting interpretations of pathogenicity
(Nov 3, 2022)		criteria provided, conflicting interpretations
48.
GRCh37:
Chr10:50678242
GRCh38:
Chr10:49470196
ERCC6L1255PAge related macular degeneration 5, Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
49.
GRCh37:
Chr10:50669394
GRCh38:
Chr10:49461348
ERCC6DE SANCTIS-CACCHIONE SYNDROME, Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1,
Cockayne syndrome type 2, Premature ovarian failure 11, Lung cancer,
UV-sensitive syndrome 1, Age related macular degeneration 5, Cockayne syndrome type 2,
Cerebrooculofacioskeletal syndrome 1		Uncertain significance
(Aug 12, 2021)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr10:50668440
GRCh38:
Chr10:49460394
ERCC6Age related macular degeneration 5, Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
51.
GRCh37:
Chr10:50667276
GRCh38:
Chr10:49459230
ERCC6G1356Dnot provided, Age related macular degeneration 5, Cockayne syndrome type 2,
Cerebrooculofacioskeletal syndrome 1		Uncertain significance
(Jun 13, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr10:50666913
GRCh38:
Chr10:49458867
ERCC6H1477Rnot provided, Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1,
Cockayne syndrome type 2		Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
53.
GRCh37:
Chr10:50665939
GRCh38:
Chr10:49457893
ERCC6Cockayne syndrome type 2, Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
54.
GRCh37:
Chr10:50747058
GRCh38:
Chr10:49539012
ERCC6-PGBD3, ERCC6Age related macular degeneration 5, Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1
Uncertain significance
(Jan 15, 2018)		criteria provided, single submitter
55.
GRCh37:
Chr10:50664132
GRCh38:
Chr10:49456086
ERCC6Cockayne syndrome type 2, Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1
Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
56.
GRCh37:
Chr10:50664095
GRCh38:
Chr10:49456049
ERCC6Cockayne syndrome type 2, Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1
Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
57.
GRCh37:
Chr10:50663915
GRCh38:
Chr10:49455869
ERCC6Cockayne syndrome type 2, Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1
Benign
(Jan 13, 2018)		criteria provided, single submitter
58.
GRCh37:
Chr10:50663141
GRCh38:
Chr10:49455095
ERCC6Age related macular degeneration 5, Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
59.
GRCh37:
Chr10:50663038
GRCh38:
Chr10:49454992
ERCC6Age related macular degeneration 5, Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1
Benign
(Jan 12, 2018)		criteria provided, single submitter
60.
GRCh37:
Chr10:50662940
GRCh38:
Chr10:49454894
ERCC6Cockayne syndrome type 2, Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1
Likely benign
(Jan 12, 2018)		criteria provided, single submitter
61.
GRCh37:
Chr10:50747025
GRCh38:
Chr10:49538979
ERCC6, ERCC6-PGBD3Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
62.
GRCh37:
Chr10:50664401
GRCh38:
Chr10:49456355
ERCC6Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
63.
GRCh37:
Chr10:50663888
GRCh38:
Chr10:49455842
ERCC6Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
64.
GRCh37:
Chr10:50663644
GRCh38:
Chr10:49455598
ERCC6Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
65.
GRCh37:
Chr10:50663581
GRCh38:
Chr10:49455535
ERCC6Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
66.
GRCh37:
Chr10:50732662
GRCh38:
Chr10:49524616
ERCC6, ERCC6-PGBD3E272KCockayne syndrome type 2, Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1,
not provided		Uncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr10:50662936
GRCh38:
Chr10:49454890
ERCC6Cockayne syndrome type 2, Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
68.
GRCh37:
Chr10:50662842
GRCh38:
Chr10:49454796
ERCC6Cockayne syndrome type 2, Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1
Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
69.
GRCh37:
Chr10:50662771
GRCh38:
Chr10:49454725
ERCC6Cockayne syndrome type 2, Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1
Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
70.
GRCh37:
Chr10:50690921
GRCh38:
Chr10:49482875
ERCC6not provided, Age related macular degeneration 5, Cockayne syndrome type 2,
Cerebrooculofacioskeletal syndrome 1		Conflicting interpretations of pathogenicity
(Feb 12, 2022)		criteria provided, conflicting interpretations
71.
GRCh37:
Chr10:50678883
GRCh38:
Chr10:49470837
ERCC6not provided, Age related macular degeneration 5, Cockayne syndrome type 2,
Cerebrooculofacioskeletal syndrome 1		Conflicting interpretations of pathogenicity
(Sep 24, 2022)		criteria provided, conflicting interpretations
72.
GRCh37:
Chr10:50669489
GRCh38:
Chr10:49461443
ERCC6R1298Gnot provided, Age related macular degeneration 5, Cockayne syndrome type 2,
Cerebrooculofacioskeletal syndrome 1		Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
73.
GRCh37:
Chr10:50667127
GRCh38:
Chr10:49459081
ERCC6E1406Knot provided, Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1,
Age related macular degeneration 5		Uncertain significance
(Oct 4, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr10:50666272
GRCh38:
Chr10:49458226
ERCC6Cerebrooculofacioskeletal syndrome 1, Age related macular degeneration 5, Cockayne syndrome type 2
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
75.
GRCh37:
Chr10:50665056
GRCh38:
Chr10:49457010
ERCC6Cerebrooculofacioskeletal syndrome 1, Age related macular degeneration 5, Cockayne syndrome type 2
Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
76.
GRCh37:
Chr10:50678892-50678893
GRCh38:
Chr10:49470846-49470847
ERCC6R1038fsDE SANCTIS-CACCHIONE SYNDROME, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
Likely pathogenic
(Feb 26, 2020)		criteria provided, single submitter
77.
GRCh37:
Chr10:50724013
GRCh38:
Chr10:49515967
ERCC6-PGBD3, PGBD3, ERCC6V851A, V383ACerebrooculofacioskeletal syndrome 1, UV-sensitive syndrome 1, Cockayne syndrome type 2,
Age related macular degeneration 5, Lung cancer, DE SANCTIS-CACCHIONE SYNDROME,
Premature ovarian failure 11, Inborn genetic diseases, not provided
Uncertain significance
(Aug 30, 2021)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr10:50679174
GRCh38:
Chr10:49471128
ERCC6Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1, Age related macular degeneration 5,
not provided		Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
79.
GRCh37:
Chr10:50732086
GRCh38:
Chr10:49524040
ERCC6-PGBD3, PGBD3, ERCC6R464WInborn genetic diseases, not provided, Cockayne syndrome type 2,
Cerebrooculofacioskeletal syndrome 1, Age related macular degeneration 5		Uncertain significance
(Jun 19, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr10:50708588
GRCh38:
Chr10:49500542
ERCC6Y561DCockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1Uncertain significance
(Aug 7, 2018)		criteria provided, single submitter
81.
GRCh37:
Chr10:50678392
GRCh38:
Chr10:49470346
ERCC6K1205fsCerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME
Likely pathogenic
(Jun 5, 2018)		criteria provided, single submitter
82.
GRCh37:
Chr10:50708744
GRCh38:
Chr10:49500698
ERCC6Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME
Likely pathogenic
(Jun 3, 2018)		criteria provided, single submitter
83.
GRCh37:
Chr10:50669456-50669467
GRCh38:
Chr10:49461410-49461421
ERCC6Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME
Uncertain significance
(May 30, 2018)		criteria provided, single submitter
84.
GRCh37:
Chr10:50678413-50678414
GRCh38:
Chr10:49470367-49470368
ERCC6K1198fsCerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME,
not provided		Pathogenic/Likely pathogenic
(Aug 27, 2021)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr10:50682289
GRCh38:
Chr10:49474243
ERCC6Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME
Likely pathogenic
(Apr 26, 2018)		criteria provided, single submitter
86.
GRCh37:
Chr10:50732264-50732265
GRCh38:
Chr10:49524218-49524219
ERCC6, ERCC6-PGBD3, PGBD3Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME, Cerebrooculofacioskeletal syndrome 1
Uncertain significance
(Apr 24, 2018)		criteria provided, single submitter
87.
GRCh37:
Chr10:50669424
GRCh38:
Chr10:49461378
ERCC6I1320fsCerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME,
not provided		Pathogenic/Likely pathogenic
(Apr 27, 2022)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr10:50690828-50690829
GRCh38:
Chr10:49482782-49482783
ERCC6DE SANCTIS-CACCHIONE SYNDROME, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
Uncertain significance
(Apr 13, 2018)		criteria provided, single submitter
89.
GRCh37:
Chr10:50701163
GRCh38:
Chr10:49493117
ERCC6E608fsCerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME
Likely pathogenic
(Apr 6, 2018)		criteria provided, single submitter
90.
GRCh37:
Chr10:50682111
GRCh38:
Chr10:49474065
ERCC6Q854*Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME
Pathogenic
(Apr 6, 2018)		criteria provided, single submitter
91.
GRCh37:
Chr10:50740803-50740804
GRCh38:
Chr10:49532757-49532758
ERCC6, ERCC6-PGBD3P70fsnot provided, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2,
DE SANCTIS-CACCHIONE SYNDROME		Pathogenic/Likely pathogenic
(Jul 20, 2021)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr10:50738870
GRCh38:
Chr10:49530824
ERCC6, ERCC6-PGBD3Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME, Cerebrooculofacioskeletal syndrome 1
Likely pathogenic
(Mar 6, 2018)		criteria provided, single submitter
93.
GRCh37:
Chr10:50732152-50732154
GRCh38:
Chr10:49524106-49524108
ERCC6, ERCC6-PGBD3, PGBD3E441delCockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME, Cerebrooculofacioskeletal syndrome 1
Uncertain significance
(Feb 20, 2018)		criteria provided, single submitter
94.
GRCh37:
Chr10:50668417
GRCh38:
Chr10:49460371
ERCC6Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME
Likely pathogenic
(Feb 15, 2018)		criteria provided, single submitter
95.
GRCh37:
Chr10:50678890-50678892
GRCh38:
Chr10:49470844-49470846
ERCC6R1039delDE SANCTIS-CACCHIONE SYNDROME, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2,
not provided		Uncertain significance
(Oct 19, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr10:50732155-50732157
GRCh38:
Chr10:49524109-49524111
ERCC6, ERCC6-PGBD3, PGBD3G440delCockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME, Cerebrooculofacioskeletal syndrome 1
Uncertain significance
(Feb 16, 2018)		criteria provided, single submitter
97.
GRCh37:
Chr10:50740882-50740884
GRCh38:
Chr10:49532836-49532838
ERCC6, ERCC6-PGBD3E43delDE SANCTIS-CACCHIONE SYNDROME, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2,
not provided		Uncertain significance
(Jul 31, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr10:50740588
GRCh38:
Chr10:49532542
ERCC6, ERCC6-PGBD3DE SANCTIS-CACCHIONE SYNDROME, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2,
not provided		Likely pathogenic
(Oct 21, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr10:50678227
GRCh38:
Chr10:49470181
ERCC6Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME
Likely pathogenic
(Dec 27, 2017)		criteria provided, single submitter
100.
GRCh37:
Chr10:50701162
GRCh38:
Chr10:49493116
ERCC6DE SANCTIS-CACCHIONE SYNDROME, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2,
not provided		Likely pathogenic
(Nov 15, 2021)		criteria provided, multiple submitters, no conflicts
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