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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM30, ATP1A1
+140 more
Copy number gain
See cases
GPathogenic
ADAM30, HAO2
+42 more
Copy number gain
See cases
GLikely benign
LOC129931299, WARS2
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GBenign
WARS2-AS1, LOC129931299
+1 more
(W13G)
Single nucleotide variant
(missense variant +2 more)
not provided
+5 more
GConflicting classifications of pathogenicity
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