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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTPRQ
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic/Likely pathogenic
PTPRQ
Deletion
(nonsense)
not provided
GPathogenic
PTPRQ
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
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