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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WASHC5
(L619F +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 8
+1 more
GPathogenic
WASHC5
(S591F +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 8
+2 more
GPathogenic/Likely pathogenic