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Results: 1 to 20 of 24

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
PRXnot providedBenign/Likely benign
(Mar 20, 2014)
classified by single submitter1940397621
2.
PRXnot specifiedGO-ESP:0.95379(T)
GMAF:0.04130(C)
Benign/Likely benignclassified by single submitter1940394958
3.
PRXnot specified, not providedGO-ESP:0.13317(C)
GMAF:0.09140(C)
Benign/Likely benign
(Mar 20, 2014)
classified by multiple submitters1940395104
4.
PRXnot specified, not providedGO-ESP:0.13455(A)
GMAF:0.09230(A)
Benign/Likely benign
(Mar 20, 2014)
classified by multiple submitters1940398695
5.
PRXnot specifiedGO-ESP:0.36629(C)
GMAF:0.31310(C)
Benign/Likely benignclassified by single submitter1940395589
6.
PRXnot specifiedGO-ESP:0.60910(G)
GMAF:0.49540(G)
Benign/Likely benignclassified by single submitter1940395697
7.
PRXnot specifiedGO-ESP:0.60972(G)
GMAF:0.49540(G)
Benign/Likely benignclassified by single submitter1940395707
8.
PRXMalignant melanomanot providednot classified by submitter1940397292
9.
PRXMalignant melanomanot providednot classified by submitter1940396195
10.
PRX, HIPK4Malignant melanomanot providednot classified by submitter1940394104
11.
See casesPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter1937319377 - 42738688
12.
PRXCharcot-Marie-Tooth disease, type IVFPathogenic/Likely pathogenic
(Sep 13, 2012)
classified by single submitter1940398754
13.
PRXCharcot-Marie-Tooth disease, type IVFPathogenic/Likely pathogenic
(Sep 13, 2012)
classified by single submitter1940396254
14.
PRXCharcot-Marie-Tooth disease, type IVF, not providedGO-ESP:0.00008(T)
GMAF:0.00050(T)
Pathogenic/Likely pathogenic
(Oct 23, 2012)
classified by multiple submitters1940396401
15.
PRXDejerine-Sottas diseasePathogenic/Likely pathogenic
(Aug 30, 2013)
classified by single submitter
16.
PRXDejerine-Sottas diseasePathogenic/Likely pathogenic
(Oct 23, 2012)
classified by single submitter
17.
PRXDejerine-Sottas disease, Charcot-Marie-Tooth disease, type IVFPathogenic/Likely pathogenic
(Oct 23, 2012)
classified by multiple submitters1940395144
18.
PRXAutosomal recessive Dejerine-Sottas syndromePathogenic/Likely pathogenic
(Oct 23, 2012)
classified by single submitter
19.
PRXCharcot-Marie-Tooth disease, type IVFPathogenic/Likely pathogenic
(Oct 23, 2012)
classified by multiple submitters1940396207
20.
PRXDejerine-Sottas disease, Charcot-Marie-Tooth disease, type IVFPathogenic/Likely pathogenic
(Oct 23, 2012)
classified by multiple submitters1940397766

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