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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASPA, SPATA22
(N54K)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GPathogenic/Likely pathogenic
ASPA, SPATA22
(Y231C)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GPathogenic