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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065345, PANK2
(R94G)
Single nucleotide variant
(missense variant +1 more)
PANK2-related disorder
+2 more
GConflicting classifications of pathogenicity
LOC130065345, PANK2
(R128Q +1 more)
Single nucleotide variant
(5 prime UTR variant +3 more)
not specified
+1 more
GConflicting classifications of pathogenicity