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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860819, LOC126860820
+680 more
Copy number gain
See cases
GPathogenic
LOC130003217, LOC130003218
+482 more
Copy number loss
See cases
GPathogenic
BEND7, BEND7-DT
+69 more
Copy number loss
See cases
GLikely pathogenic
LOC108903149, OPTN
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC108903149, OPTN
Duplication
(intron variant)
not provided
GBenign
OPTN, LOC108903149
Deletion
(intron variant)
not provided
GLikely benign
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