ClinVar for MedGen (Select 1710411) - ClinVar - NCBI

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Items: 9

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26271041.	NM_002861.5(PCYT2):c.969+5G>A GRCh37: Chr17:79863253 GRCh38: Chr17:81905377	PCYT2		Spastic paraplegia 82, autosomal recessive	Likely pathogenic	criteria provided, single submitter
Select item 25752422.	NM_002861.5(PCYT2):c.682G>A (p.Gly228Arg) GRCh37: Chr17:79864417 GRCh38: Chr17:81906541	PCYT2	G150R, G174R, G187R, G196R, G228R, G246R	Spastic paraplegia 82, autosomal recessive	Likely pathogenic (Aug 15, 2023)	no assertion criteria provided
Select item 25001963.	NM_002861.5(PCYT2):c.903G>C (p.Lys301Asn) GRCh37: Chr17:79863546 GRCh38: Chr17:81905670	PCYT2	K223N, K247N, K260N, K269N, K301N, K319N	Spastic paraplegia 82, autosomal recessive	Likely pathogenic (Apr 27, 2023)	criteria provided, single submitter
Select item 24346184.	NM_002861.5(PCYT2):c.175G>T (p.Asp59Tyr) GRCh37: Chr17:79867393 GRCh38: Chr17:81909517	PCYT2	D27Y, D59Y	Spastic paraplegia 82, autosomal recessive	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 13294855.	NM_002861.5(PCYT2):c.555C>A (p.Asn185Lys) GRCh37: Chr17:79864757 GRCh38: Chr17:81906881	PCYT2	N107K, N131K, N144K, N153K, N185K, N203K	not provided, Spastic paraplegia 82, autosomal recessive	Uncertain significance (Apr 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13294836.	NM_002861.5(PCYT2):c.1009G>A (p.Gly337Ser) GRCh37: Chr17:79862991 GRCh38: Chr17:81905115	PCYT2	G259S, G283S, G296S, G305S, G315S, G337S, G355S	Spastic paraplegia 82, autosomal recessive, not provided, Inborn genetic diseases	Uncertain significance (Apr 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 8125737.	NM_002861.5(PCYT2):c.1075C>T (p.Arg359Ter) GRCh37: Chr17:79862804 GRCh38: Chr17:81904928	PCYT2	R377, R281, R305, R318, R327, R337, R359*	Spastic paraplegia 82, autosomal recessive, Inborn genetic diseases	Pathogenic/Likely pathogenic (Sep 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 8125728.	NM_002861.5(PCYT2):c.676C>T (p.His226Tyr) GRCh37: Chr17:79864636 GRCh38: Chr17:81906760	PCYT2	H148Y, H172Y, H185Y, H194Y, H226Y, H244Y	Spastic paraplegia 82, autosomal recessive	Pathogenic (Feb 14, 2020)	no assertion criteria provided
Select item 8125719.	NM_002861.5(PCYT2):c.866C>T (p.Pro289Leu) GRCh37: Chr17:79863583 GRCh38: Chr17:81905707	PCYT2	P211L, P235L, P248L, P257L, P289L, P307L	not provided	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter