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Items: 3

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)
Leber hereditary optic neuropathy, autosomal recessive
+3 more
GPathogenic/Likely pathogenic
BAZ1B, CLDN4
+25 more
Copy number loss
Williams syndrome
GPathogenic
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