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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAPN1
(G74D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CAPN1
Single nucleotide variant
(splice donor variant)
Autosomal recessive spastic paraplegia type 76
GLikely pathogenic