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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GTPBP2
(E421fs +1 more)
Microsatellite
(frameshift variant)
Jaberi-Elahi syndrome
GLikely pathogenic
GTPBP2
Single nucleotide variant
(splice donor variant)
Jaberi-Elahi syndrome
GLikely pathogenic