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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NIPAL4
(A176D +3 more)
Single nucleotide variant
(missense variant)
Lamellar ichthyosis
+2 more
GPathogenic
NIPAL4
(G230R +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
PNPLA1
(D34E +1 more)
Single nucleotide variant
(missense variant)
Ichthyosis
+1 more
GPathogenic
SLC27A4
(C168*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TGM1
Single nucleotide variant
(splice acceptor variant)
not provided
+2 more
GPathogenic
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