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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PJVK
(R42* +2 more)
Single nucleotide variant
(nonsense +2 more)
not provided
GLikely pathogenic
PJVK
(R265H +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance