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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD10, ABI3BP
+431 more
Copy number loss
See cases
GPathogenic
TRAT1, TRMT10C
+638 more
Copy number loss
See cases
GPathogenic
LOC132088858, LOC132088860
+248 more
Copy number gain
See cases
GPathogenic
ABHD10, ATG3
+186 more
Copy number loss
See cases
GPathogenic
ATG3, ATP6V1A
+105 more
Copy number loss
See cases
GPathogenic
USF3
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
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