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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860792, PMPCA
(R104Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PMPCA
(A362T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance