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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP4F22
(W99*)
Single nucleotide variant
(nonsense)
Autosomal recessive congenital ichthyosis 5
GPathogenic
CYP4F22
(H435Y)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic