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Items: 2

  • The following term was not found in ClinVar: Brasiliorchis.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLP1, RAB9B
(I152T +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 2
+1 more
GPathogenic/Likely pathogenic
EMD
Deletion
X-linked Emery-Dreifuss muscular dystrophy
GPathogenic