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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006424, LOC130006425
+305 more
Copy number loss
See cases
GPathogenic
AAMDC, ACER3
+355 more
Copy number loss
See cases
GPathogenic
C2CD3, LOC126861262
Single nucleotide variant
(intron variant)
not provided
GBenign
C2CD3, LOC126861262
Single nucleotide variant
(intron variant)
not provided
GBenign
C2CD3, LOC126861262
Duplication
(intron variant)
not provided
GBenign
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