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Results: 11

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
ERCC8not providedGO-ESP:0.00008(C)not providednot classified by submitter560898322
2.
ERCC8not providednot providednot classified by submitter560902454
3.
ERCC8not providednot providednot classified by submitter560902477
4.
ERCC8not providednot providednot classified by submitter560904795
5.
ERCC8UV-sensitive syndrome 2, not providedPathogenic/Likely pathogenic
(Mar 14, 2013)
classified by single submitter560887479
6.
ERCC8Cockayne syndrome type APathogenic/Likely pathogenic
(Jun 20, 2013)
classified by single submitter560944972
7.
ERCC8Cockayne syndrome type APathogenic/Likely pathogenic
(Jun 20, 2013)
classified by single submitter
8.
ERCC8Cockayne syndrome type A, not providedPathogenic/Likely pathogenic
(Jun 20, 2013)
classified by single submitter560902446
9.
ERCC8Cockayne syndrome type A, not providedPathogenic/Likely pathogenic
(Jun 20, 2013)
classified by single submitter560904794
10.
ERCC8Cockayne syndrome type APathogenic/Likely pathogenic
(Jun 20, 2013)
classified by single submitter560890964
11.
See casesPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter550288355 - 63149770

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