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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC110120623, LOC110120648
+361 more
Duplication
not specified
GLikely pathogenic
PRDM2
(L1227fs +1 more)
Deletion
(frameshift variant +1 more)
Flexion contracture
GLikely pathogenic