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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD2, ACAN
+611 more
Copy number gain
See cases
GPathogenic
AGBL1
Single nucleotide variant
(intron variant)
not provided
GBenign
AGBL1
(Q1035R +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
AAGAB, ABHD17C
+278 more
Copy number gain
See cases
GPathogenic
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