List of variants in gene PCYT2 reported as pathogenic for spastic paraplegia 82, autosomal recessive

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_002861.5(PCYT2):c.1075C>T (p.Arg359Ter)	rs377278120	0.00005
NM_002861.5(PCYT2):c.676C>T (p.His226Tyr)	rs778113360	0.00002
NM_002861.5(PCYT2):c.866C>T (p.Pro289Leu)	rs1204173741	0.00002
NM_002861.5(PCYT2):c.1058+1G>A
NM_002861.5(PCYT2):c.689T>A (p.Val230Glu)

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