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Items: 2

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr4:178361507-178361508
GRCh38:
Chr4:177440353-177440354
AGAAspartylglucosaminuriaPathogenic/Likely pathogenic
(Feb 20, 2015)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr4:178359918
GRCh38:
Chr4:177438764
AGAAspartylglucosaminuria, Aspartylglucosaminuria, finnish typePathogenic
(Feb 19, 2016)
criteria provided, single submitter
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