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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAJC30
(Y98S)
Single nucleotide variant
(missense variant)
Leber hereditary optic neuropathy, autosomal recessive
GLikely pathogenic
DNAJC30, LOC129998603
(Y51C)
Single nucleotide variant
(missense variant)
DNAJC30-associated disorder
+3 more
GPathogenic/Likely pathogenic