ClinVar for MedGen (Select 1684253) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 11

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 22286341.	NM_152268.4(PARS2):c.294G>A (p.Met98Ile) GRCh37: Chr1:55224541 GRCh38: Chr1:54758868	PARS2	M98I	Developmental and epileptic encephalopathy, 75, Inborn genetic diseases	Uncertain significance (Feb 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 16989842.	NM_152268.4(PARS2):c.874T>C (p.Cys292Arg) GRCh37: Chr1:55223961 GRCh38: Chr1:54758288	PARS2	C292R	not provided, Developmental and epileptic encephalopathy, 75	Uncertain significance (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9831483.	NM_152268.4(PARS2):c.340G>A (p.Gly114Ser) GRCh37: Chr1:55224495 GRCh38: Chr1:54758822	PARS2	G114S	Developmental and epileptic encephalopathy, 75	Uncertain significance (May 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9829764.	NM_152268.4(PARS2):c.1129C>T (p.Pro377Ser) GRCh37: Chr1:55223706 GRCh38: Chr1:54758033	PARS2	P377S	Developmental and epileptic encephalopathy, 75	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 6325705.	NM_152268.4(PARS2):c.604C>G (p.Arg202Gly) GRCh37: Chr1:55224231 GRCh38: Chr1:54758558	PARS2	R202G	Developmental and epileptic encephalopathy, 75	Uncertain significance (Oct 1, 2019)	criteria provided, single submitter
Select item 6325686.	NM_152268.4(PARS2):c.607G>A (p.Glu203Lys) GRCh37: Chr1:55224228 GRCh38: Chr1:54758555	PARS2	E203K	Developmental and epileptic encephalopathy, 75	Uncertain significance (Oct 1, 2019)	criteria provided, single submitter
Select item 6325677.	NM_152268.4(PARS2):c.239T>C (p.Ile80Thr) GRCh37: Chr1:55224596 GRCh38: Chr1:54758923	PARS2	I80T	Developmental and epileptic encephalopathy, 75	Uncertain significance (Oct 1, 2019)	criteria provided, single submitter
Select item 6325668.	NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg) GRCh37: Chr1:55223744 GRCh38: Chr1:54758071	PARS2	P364R	Inborn genetic diseases, Developmental and epileptic encephalopathy, 75, not provided, not specified	Conflicting interpretations of pathogenicity (May 8, 2023)	criteria provided, conflicting interpretations
Select item 4321219.	NM_152268.4(PARS2):c.283G>A (p.Val95Ile) GRCh37: Chr1:55224552 GRCh38: Chr1:54758879	PARS2	V95I	Developmental and epileptic encephalopathy, 75, not provided	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 18314910.	NM_152268.4(PARS2):c.836C>T (p.Ser279Leu) GRCh37: Chr1:55223999 GRCh38: Chr1:54758326	PARS2	S279L	Developmental and epileptic encephalopathy, 75, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Oct 1, 2019)	criteria provided, conflicting interpretations
Select item 18314811.	NM_152268.4(PARS2):c.1130dup (p.Pro377_Lys378insTer) GRCh37: Chr1:55223704-55223705 GRCh38: Chr1:54758031-54758032	PARS2		Developmental and epileptic encephalopathy, 75	Pathogenic (Jan 1, 2015)	no assertion criteria provided