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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GEMIN5
(R1016C +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
GEMIN5
(W373* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance