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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP4M1
(Q183* +1 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 50
GPathogenic
AP4M1
(R318* +1 more)
Single nucleotide variant
(nonsense)
AP4M1-related disorder
+1 more
GPathogenic