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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALAS2
(Y586F +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALAS2
(E532fs +2 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ALAS2
(M530fs +2 more)
Deletion
(frameshift variant)
X-linked erythropoietic protoporphyria
GPathogenic
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