C3151056[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579247	GRCh38/hg38 15q21.2(chr15:50923067-50925830)x0	AP4E1	Copy number loss	Hereditary spastic paraplegia 51	GPathogenic
Select item 635026	NM_007347.5(AP4E1):c.1317-2A>C	AP4E1	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 51	GLikely pathogenic
Select item 2500948	NM_007347.5(AP4E1):c.1429+1G>T	AP4E1	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 51	GUncertain significance

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