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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
XPA
(E101fs +1 more)
Microsatellite
(frameshift variant +1 more)
Xeroderma pigmentosum
+2 more
GPathogenic/Likely pathogenic
XPA
(E111* +1 more)
Single nucleotide variant
(nonsense +1 more)
Xeroderma pigmentosum group A
+2 more
GPathogenic