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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSTYK
(R462*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 23
+1 more
GPathogenic/Likely pathogenic
DSTYK
(H203Q)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 23
+1 more
GUncertain significance