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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIDINS220
(L1417fs +6 more)
Duplication
(frameshift variant +1 more)
Spastic paraplegia, intellectual disability, nystagmus, and obesity
+1 more
GPathogenic/Likely pathogenic
KIDINS220
Single nucleotide variant
(intron variant)
Spastic paraplegia, intellectual disability, nystagmus, and obesity
GUncertain significance