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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACE2, ACOT9
+94 more
Copy number gain
not provided
GPathogenic
PNPLA4, PUDP
+2 more
Copy number loss
X-linked ichthyosis with steryl-sulfatase deficiency
GPathogenic
PNPLA4, PUDP
+2 more
Copy number loss
X-linked ichthyosis with steryl-sulfatase deficiency
GPathogenic
PUDP, STS
Copy number loss
X-linked ichthyosis with steryl-sulfatase deficiency
GPathogenic
ANOS1, ARSD
+18 more
Copy number loss
not provided
GPathogenic
PUDP, PNPLA4
+2 more
Copy number loss
Ichthyosis
GPathogenic
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