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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTS16, ADAMTS16-DT
+226 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+91 more
Copy number gain
See cases
GPathogenic
ICE1
(V901I)
Single nucleotide variant
(missense variant)
not provided
GBenign
ADAMTS16, ADCY2
+49 more
Copy number loss
See cases
GPathogenic
AHRR, ADAMTS12
+82 more
Copy number gain
See cases
GPathogenic
ADAMTS16, ADCY2
+56 more
Copy number loss
See cases
GPathogenic
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