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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAB34
(R209* +4 more)
Single nucleotide variant
(nonsense +2 more)
Jeune thoracic dystrophy
GLikely pathogenic
RAB34
(I142T +3 more)
Single nucleotide variant
(missense variant +1 more)
Jeune thoracic dystrophy
GLikely pathogenic