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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HARS2
(R281W +4 more)
Single nucleotide variant
(missense variant)
Perrault syndrome 2
GLikely pathogenic
HARS2
(G324A +4 more)
Single nucleotide variant
(missense variant)
Perrault syndrome 2
GLikely pathogenic