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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP13A2
(V712fs +1 more)
Microsatellite
(frameshift variant)
Kufor-Rakeb syndrome
+1 more
GLikely pathogenic
ATP13A2
Single nucleotide variant
(splice acceptor variant)
Kufor-Rakeb syndrome
+1 more
GLikely pathogenic