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Items: 1 to 100 of 163

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
ERCC5Xeroderma pigmentosum group g/Cockayne syndromePathogenic
(Apr 1, 1997)
no assertion criteria provided
2.
ERCC5Cerebrooculofacioskeletal syndrome 3Pathogenic
(Apr 27, 2007)
no assertion criteria provided
3.
GRCh37:
Chr13:103498177
GRCh38:
Chr13:102845827
ERCC5, BIVM-ERCC5Xeroderma pigmentosumLikely benign
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr13:103498180
GRCh38:
Chr13:102845830
ERCC5, BIVM-ERCC5Xeroderma pigmentosumLikely benign
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr13:103498198
GRCh38:
Chr13:102845848
ERCC5, BIVM-ERCC5Xeroderma pigmentosumBenign
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr13:103498375
GRCh38:
Chr13:102846025
ERCC5, BIVM-ERCC5Xeroderma pigmentosumBenign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr13:103498376
GRCh38:
Chr13:102846026
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr13:103498417
GRCh38:
Chr13:102846067
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr13:103498461
GRCh38:
Chr13:102846111
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr13:103498491
GRCh38:
Chr13:102846141
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr13:103498543
GRCh38:
Chr13:102846193
ERCC5, BIVM-ERCC5Xeroderma pigmentosumLikely benign
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr13:103498545
GRCh38:
Chr13:102846195
ERCC5, BIVM-ERCC5Xeroderma pigmentosumLikely benign
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr13:103498616
GRCh38:
Chr13:102846266
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
14.
GRCh37:
Chr13:103498616
GRCh38:
Chr13:102846266
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
15.
GRCh37:
Chr13:103498672
GRCh38:
Chr13:102846322
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
16.
GRCh37:
Chr13:103498699
GRCh38:
Chr13:102846349
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, group GPathogenic
(Mar 1, 2013)
no assertion criteria provided
17.
GRCh37:
Chr13:103504506
GRCh38:
Chr13:102852156
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr13:103504517
GRCh38:
Chr13:102852167
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr13:103504591
GRCh38:
Chr13:102852241
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
20.
GRCh37:
Chr13:103504594
GRCh38:
Chr13:102852244
ERCC5, BIVM-ERCC5Xeroderma pigmentosum group g/Cockayne syndromePathogenic
(Mar 1, 2001)
no assertion criteria provided
21.
GRCh37:
Chr13:103504650
GRCh38:
Chr13:102852300
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr13:103506204
GRCh38:
Chr13:102853854
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
23.
GRCh37:
Chr13:103506663
GRCh38:
Chr13:102854313
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, group GPathogenic
(Jun 1, 2002)
no assertion criteria provided
24.
GRCh37:
Chr13:103506686
GRCh38:
Chr13:102854336
ERCC5, BIVM-ERCC5Xeroderma pigmentosumLikely benign
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr13:103506690
GRCh38:
Chr13:102854340
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
26.
GRCh37:
Chr13:103506699
GRCh38:
Chr13:102854349
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr13:103508460
GRCh38:
Chr13:102856110
ERCC5, BIVM-ERCC5Xeroderma pigmentosum group g/Cockayne syndromePathogenic
(Mar 1, 2001)
no assertion criteria provided
28.
GRCh37:
Chr13:103510638
GRCh38:
Chr13:102858288
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr13:103510688
GRCh38:
Chr13:102858338
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
30.
GRCh37:
Chr13:103510736
GRCh38:
Chr13:102858386
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
31.
GRCh37:
Chr13:103510737
GRCh38:
Chr13:102858387
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, not specifiedUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr13:103510765
GRCh38:
Chr13:102858415
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr13:103510766
GRCh38:
Chr13:102858416
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr13:103513923
GRCh38:
Chr13:102861573
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr13:103513944
GRCh38:
Chr13:102861594
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr13:103513951
GRCh38:
Chr13:102861601
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, not specifiedLikely benign
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr13:103513971
GRCh38:
Chr13:102861621
ERCC5, BIVM-ERCC5Xeroderma pigmentosum group g/Cockayne syndromePathogenic
(Apr 1, 1997)
no assertion criteria provided
38.
GRCh37:
Chr13:103513972
GRCh38:
Chr13:102861622
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
39.
GRCh37:
Chr13:103514032
GRCh38:
Chr13:102861682
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
40.
GRCh37:
Chr13:103514060
GRCh38:
Chr13:102861710
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, not specifiedUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr13:103514444
GRCh38:
Chr13:102862094
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
42.
GRCh37:
Chr13:103514609
GRCh38:
Chr13:102862259
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr13:103514614-103514617
GRCh38:
Chr13:102862264-102862267
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, group GPathogenic
(Feb 1, 2002)
no assertion criteria provided
44.
GRCh37:
Chr13:103514626
GRCh38:
Chr13:102862276
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
45.
GRCh37:
Chr13:103514630
GRCh38:
Chr13:102862280
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr13:103514731
GRCh38:
Chr13:102862381
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr13:103514758
GRCh38:
Chr13:102862408
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
48.
GRCh37:
Chr13:103514786
GRCh38:
Chr13:102862436
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr13:103514839
GRCh38:
Chr13:102862489
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
50.
GRCh37:
Chr13:103514939
GRCh38:
Chr13:102862589
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr13:103514959
GRCh38:
Chr13:102862609
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr13:103514993
GRCh38:
Chr13:102862643
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, group GPathogenic
(Feb 1, 2002)
no assertion criteria provided
53.
GRCh37:
Chr13:103515055
GRCh38:
Chr13:102862705
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
54.
GRCh37:
Chr13:103515062
GRCh38:
Chr13:102862712
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr13:103515070
GRCh38:
Chr13:102862720
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
56.
GRCh37:
Chr13:103515085
GRCh38:
Chr13:102862735
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr13:103515140
GRCh38:
Chr13:102862790
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr13:103515210
GRCh38:
Chr13:102862860
ERCC5, BIVM-ERCC5not specifiedUncertain significance
(Mar 31, 2015)
criteria provided, single submitter
59.
GRCh37:
Chr13:103515237
GRCh38:
Chr13:102862887
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
60.
GRCh37:
Chr13:103515288
GRCh38:
Chr13:102862938
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
61.
GRCh37:
Chr13:103515301
GRCh38:
Chr13:102862951
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
62.
GRCh37:
Chr13:103515379
GRCh38:
Chr13:102863029
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, not specifiedLikely benign
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr13:103515416
GRCh38:
Chr13:102863066
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr13:103515425
GRCh38:
Chr13:102863075
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr13:103518133
GRCh38:
Chr13:102865783
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
66.
GRCh37:
Chr13:103518162
GRCh38:
Chr13:102865812
ERCC5, BIVM-ERCC5Xeroderma pigmentosumLikely benign
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr13:103518252
GRCh38:
Chr13:102865902
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr13:103518620
GRCh38:
Chr13:102866270
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr13:103518680
GRCh38:
Chr13:102866330
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr13:103518693
GRCh38:
Chr13:102866343
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, not specifiedUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr13:103518707
GRCh38:
Chr13:102866357
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr13:103518967
GRCh38:
Chr13:102866617
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr13:103519037
GRCh38:
Chr13:102866687
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, group GPathogenic
(Apr 27, 2007)
no assertion criteria provided
74.
GRCh37:
Chr13:103519120
GRCh38:
Chr13:102866770
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
75.
GRCh37:
Chr13:103520453
GRCh38:
Chr13:102868103
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr13:103520471
GRCh38:
Chr13:102868121
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
77.
GRCh37:
Chr13:103520502
GRCh38:
Chr13:102868152
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, group GPathogenic
(Feb 1, 2002)
no assertion criteria provided
78.
GRCh37:
Chr13:103520529
GRCh38:
Chr13:102868179
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr13:103520549
GRCh38:
Chr13:102868199
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, group G, Xeroderma pigmentosumConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
80.
GRCh37:
Chr13:103520565
GRCh38:
Chr13:102868215
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
81.
GRCh37:
Chr13:103520608
GRCh38:
Chr13:102868258
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, group GLikely pathogenic
(Aug 2, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr13:103524620
GRCh38:
Chr13:102872270
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, group GPathogenic
(Feb 1, 2002)
no assertion criteria provided
83.
GRCh37:
Chr13:103524635
GRCh38:
Chr13:102872285
ERCC5, BIVM-ERCC5Cerebrooculofacioskeletal syndrome 3Pathogenic
(Jul 1, 2014)
no assertion criteria provided
84.
GRCh37:
Chr13:103524647
GRCh38:
Chr13:102872297
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr13:103524687
GRCh38:
Chr13:102872337
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr13:103524711
GRCh38:
Chr13:102872361
ERCC5, BIVM-ERCC5not specifiedUncertain significance
(Mar 31, 2015)
criteria provided, single submitter
87.
GRCh37:
Chr13:103524713
GRCh38:
Chr13:102872363
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr13:103524746
GRCh38:
Chr13:102872396
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
89.
GRCh37:
Chr13:103524747
GRCh38:
Chr13:102872397
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, group GPathogenic
(Jun 1, 1994)
no assertion criteria provided
90.
GRCh37:
Chr13:103524762
GRCh38:
Chr13:102872412
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr13:103525619
GRCh38:
Chr13:102873269
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, not specifiedUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr13:103525633
GRCh38:
Chr13:102873283
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, group GPathogenic
(Mar 1, 2013)
no assertion criteria provided
93.
GRCh37:
Chr13:103525658-103525659
GRCh38:
Chr13:102873308-102873309
ERCC5, BIVM-ERCC5Abnormality of the corpus callosum, Dysarthria, Pectus excavatum,
Spastic paraplegia, Polyneuropathy, Cerebellar atrophy,
Pes cavus, Cognitive impairment
Likely pathogenic
(Jun 15, 2015)
criteria provided, single submitter
94.
GRCh37:
Chr13:103527643
GRCh38:
Chr13:102875293
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr13:103527687
GRCh38:
Chr13:102875337
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, not specifiedUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr13:103527695
GRCh38:
Chr13:102875345
ERCC5, BIVM-ERCC5Xeroderma pigmentosumUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr13:103527718
GRCh38:
Chr13:102875368
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
98.
GRCh37:
Chr13:103527730
GRCh38:
Chr13:102875380
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
99.
GRCh37:
Chr13:103527798
GRCh38:
Chr13:102875448
ERCC5, BIVM-ERCC5Xeroderma pigmentosum, not specifiedUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr13:103527849
GRCh38:
Chr13:102875499
ERCC5, BIVM-ERCC5not specifiednot provided
(Sep 19, 2013)
no assertion provided
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