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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LARS2
(W691*)
Single nucleotide variant
(nonsense)
Perrault syndrome 4
GLikely pathogenic
LARS2
(V870F)
Single nucleotide variant
(missense variant)
Perrault syndrome 4
GUncertain significance