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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MCOLN1
(Y126*)
Single nucleotide variant
(nonsense)
Intellectual disability
+6 more
GLikely pathogenic
MCOLN1
Single nucleotide variant
(splice donor variant)
Mucolipidosis type IV
GPathogenic