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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MCOLN1
Insertion
Mucolipidosis type IV
GPathogenic
MCOLN1
Single nucleotide variant
(splice acceptor variant)
Mucolipidosis
+2 more
GPathogenic
MCOLN1
(T232P)
Single nucleotide variant
(missense variant)
Mucolipidosis type IV
GPathogenic/Likely pathogenic
MCOLN1
(D362Y)
Single nucleotide variant
(missense variant)
MCOLN1-related condition
+2 more
GPathogenic/Likely pathogenic
MCOLN1
(F408del)
Microsatellite
(inframe_deletion)
not provided
+1 more
GLikely pathogenic
MCOLN1
(N469S)
Single nucleotide variant
(missense variant)
Mucolipidosis type IV
GLikely pathogenic
MCOLN1
(S488fs)
Duplication
(frameshift variant)
Mucolipidosis type IV
GPathogenic
MCOLN1
(A539fs)
Deletion
(frameshift variant)
Mucolipidosis type IV
GPathogenic
MCOLN1
Single nucleotide variant
(synonymous variant)
not specified
GUncertain significance
MCOLN1
Deletion
Mucolipidosis type IV
GPathogenic
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