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Items: 8

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr16:88876201
GRCh38:
Chr16:88809793
APRTAdenine phosphoribosyltransferase deficiencyPathogenic
(Jun 18, 2015)
no assertion criteria provided
2.
GRCh37:
Chr16:88876242
GRCh38:
Chr16:88809834
APRTAdenine phosphoribosyltransferase deficiency, APRT deficiency, Japanese typePathogenic
(Jun 18, 2015)
no assertion criteria provided
3.
GRCh37:
Chr16:88876476
GRCh38:
Chr16:88810068
APRTAdenine phosphoribosyltransferase deficiencyPathogenic
(Jun 18, 2015)
no assertion criteria provided
4.
GRCh37:
Chr16:88876829
GRCh38:
Chr16:88810421
APRTAdenine phosphoribosyltransferase deficiencyPathogenic
(Aug 30, 2012)
no assertion criteria provided
5.
GRCh37:
Chr16:88876855
GRCh38:
Chr16:88810447
APRTAdenine phosphoribosyltransferase deficiencyBenign
(Jun 18, 2015)
no assertion criteria provided
6.
GRCh37:
Chr16:88876858
GRCh38:
Chr16:88810450
APRTAdenine phosphoribosyltransferase deficiencyPathogenic
(Jun 18, 2015)
no assertion criteria provided
7.
GRCh37:
Chr16:88876891-88876894
GRCh38:
Chr16:88810483-88810486
APRTAdenine phosphoribosyltransferase deficiencyPathogenic
(Jun 18, 2015)
no assertion criteria provided
8.
GRCh37:
Chr16:88876958
GRCh38:
Chr16:88810550
APRTAdenine phosphoribosyltransferase deficiencyPathogenic
(Jun 18, 2015)
no assertion criteria provided
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