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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130059197, LOC130059198
+575 more
Copy number gain
See cases
GPathogenic
AARS1, AP1G1
+263 more
Copy number loss
See cases
GPathogenic
LOC130059307, NIP7
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
COG8, NIP7
Single nucleotide variant
(intron variant)
not provided
GBenign
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