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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063376, MCOLN1
Deletion
Mucolipidosis type IV
GPathogenic
LOC130063376, MCOLN1
Single nucleotide variant
(splice donor variant)
Mucolipidosis type IV
GLikely pathogenic