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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIF5A
(Y140* +1 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 10
GLikely pathogenic
KIF5A
(R775* +1 more)
Single nucleotide variant
(nonsense)
Myoclonus, intractable, neonatal
+1 more
GConflicting classifications of pathogenicity