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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLA2G6
(R741W +4 more)
Single nucleotide variant
(missense variant)
PLA2G6-associated neurodegeneration
+5 more
GPathogenic/Likely pathogenic
PLA2G6
Single nucleotide variant
(splice acceptor variant)
Infantile neuroaxonal dystrophy
GPathogenic/Likely pathogenic