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Results: 1 to 20 of 25

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
ABCC6Pseudoxanthoma elasticumPathogenic
(Feb 26, 2014)
classified by single submitter1616202058 - 16202090
2.
ABCC6Pseudoxanthoma elasticumPathogenic
(Jul 18, 2012)
classified by single submitter1616159505
3.
ABCC6Pseudoxanthoma elasticumPathogenic
(Jul 18, 2012)
classified by single submitter1616154899
4.
ABCC6Pseudoxanthoma elasticumPathogenic
(Feb 26, 2014)
classified by single submitter1616151251 - 16167673
5.
ABCC6Pseudoxanthoma elasticumGO-ESP:0.00008(A)Pathogenic
(Feb 26, 2014)
classified by single submitter1616163009
6.
ABCC6Pseudoxanthoma elasticumGO-ESP:0.00008(A)Pathogenic
(Oct 1, 2013)
classified by single submitter1616163110
7.
ABCC6Pseudoxanthoma elasticumPathogenic
(Jul 18, 2012)
classified by single submitter
8.
ABCC6Pseudoxanthoma elasticumPathogenic
(Jul 18, 2012)
classified by single submitter1616150737 - 16150738
9.
ABCC6Pseudoxanthoma elasticumPathogenic
(Jul 18, 2012)
classified by single submitter1616163158
10.
ABCC6Pseudoxanthoma elasticumPathogenic
(Jul 18, 2012)
classified by single submitter1616154953
11.
ABCC6Pseudoxanthoma elasticumPathogenic
(Jul 18, 2012)
classified by single submitter1616155010
12.
ABCC6Pseudoxanthoma elasticumGMAF:0.00040(T)Pathogenic
(Jul 18, 2012)
classified by single submitter1616155022
13.
ABCC6Pseudoxanthoma elasticumGMAF:0.00020(A)Pathogenic
(Jul 18, 2012)
classified by single submitter1616150606
14.
ABCC6Pseudoxanthoma elasticumGO-ESP:0.00015(A)Pathogenic
(Feb 26, 2014)
classified by single submitter1616163087
15.
ABCC6Pseudoxanthoma elasticumGO-ESP:0.00016(-)Pathogenic
(Jul 18, 2012)
classified by single submitter1616157770
16.
ABCC6Pseudoxanthoma elasticumPathogenic
(Jul 18, 2012)
classified by single submitter1616163086
17.
ABCC6Pseudoxanthoma elasticum, Generalized arterial calcification of infancy 2Pathogenic
(Jul 18, 2012)
classified by multiple submitters1616150765
18.
ABCC6, ABCC1, NDE1, FOPNLPseudoxanthoma elasticumPathogenic
(Jul 18, 2012)
classified by single submitter
19.
ABCC6Pseudoxanthoma elasticum, not providedGO-ESP:0.22395(T)
GMAF:0.18130(T)
Conflicting interpretations of pathogenicity
(Jul 18, 2012)
classified by multiple submitters1616157742
20.
ABCC6Pseudoxanthoma elasticum, Generalized arterial calcification of infancy 2Pathogenic
(Feb 26, 2014)
classified by multiple submitters1616157810

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