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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAG
(L431Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
MAG
(R483* +1 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 75
GPathogenic/Likely pathogenic