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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DIS3L2
(Q604*)
Single nucleotide variant
(nonsense +2 more)
Perlman syndrome
GPathogenic
DIS3L2
(E874del)
Microsatellite
(inframe_deletion +2 more)
Perlman syndrome
GUncertain significance