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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP4B1, DCLRE1B
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 47
+2 more
GBenign
AP4B1, DCLRE1B
+1 more
(M1fs)
Indel
(frameshift variant +3 more)
Inborn genetic diseases
+2 more
GUncertain significance