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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POMK
(R15Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
POMK
(I189V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
POMK
(R303*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
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