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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PANK2
(M298I +2 more)
Single nucleotide variant
(missense variant +1 more)
Neurodegeneration
+1 more
GPathogenic
PANK2
(R357W +2 more)
Single nucleotide variant
(missense variant +2 more)
Pigmentary pallidal degeneration
+2 more
GPathogenic
MIR103A2, MIR103B2
+1 more
(T237M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic
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