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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C19orf12
(G58fs +1 more)
Deletion
(frameshift variant +1 more)
C19orf12-related condition
+3 more
GPathogenic/Likely pathogenic
C19orf12
(A63P +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary spastic paraplegia 43
+2 more
GConflicting classifications of pathogenicity
C19orf12
(T11M)
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary spastic paraplegia 43
+2 more
GPathogenic/Likely pathogenic
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