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Results: 2

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
MCOLN1Ganglioside sialidase deficiencyPathogenic/Likely pathogenic
(Jan 9, 2012)
classified by single submitter197521736 - 7528169
2.
MCOLN1Ganglioside sialidase deficiency, not providedPathogenic/Likely pathogenic
(Jan 9, 2012)
classified by single submitter197526759