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Items: 2

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:88459314
GRCh38:
Chr14:87992970
GALCGalactosylceramide beta-galactosidase deficiencyLikely pathogenic
(Feb 16, 2016)
criteria provided, single submitter
2.
GALCGalactosylceramide beta-galactosidase deficiencyPathogenic
(Dec 1, 2010)
no assertion criteria provided
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