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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
ADCY10, ALDH9A1
+406 more
Copy number loss
See cases
GPathogenic
FAM163A, FAM20B
+482 more
Copy number gain
See cases
GPathogenic
ANKRD45, ATP1B1
+232 more
Copy number loss
See cases
GPathogenic
C1orf105, PIGC
(G96R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1orf105, PIGC
Single nucleotide variant
(synonymous variant +1 more)
Glycosylphosphatidylinositol biosynthesis defect 16
+2 more
GBenign
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