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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP7B1
(R388*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 5A
+1 more
GPathogenic
C19orf12
(K142E +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity