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Results: 7

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
APRTAdenine phosphoribosyltransferase deficiencyPathogenic
(Aug 30, 2012)
classified by single submitter1688809793
2.
APRTAdenine phosphoribosyltransferase deficiencyBenign
(Aug 30, 2012)
classified by single submitter1688810447
3.
APRTAdenine phosphoribosyltransferase deficiencyPathogenic
(Sep 18, 2013)
classified by multiple submitters1688810550
4.
APRTAdenine phosphoribosyltransferase deficiencyPathogenic
(Sep 18, 2013)
classified by multiple submitters1688810483 - 88810486
5.
APRTAdenine phosphoribosyltransferase deficiencyPathogenic
(Sep 18, 2013)
classified by multiple submitters1688810450
6.
APRTAdenine phosphoribosyltransferase deficiencyPathogenic
(Sep 18, 2013)
classified by multiple submitters1688810421
7.
APRTAdenine phosphoribosyltransferase deficiency, APRT deficiency, Japanese typePathogenic
(Sep 18, 2013)
classified by multiple submitters1688809834

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