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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNPTG
(N116del)
Microsatellite
(inframe_deletion)
not provided
+2 more
GPathogenic/Likely pathogenic
GNPTG
(Q185*)
Single nucleotide variant
(nonsense)
GNPTG-mucolipidosis
GLikely pathogenic