ClinVar for MedGen (Select 934729) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 13

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24392131.	NM_022786.3(ARV1):c.691C>T (p.Arg231Cys) GRCh37: Chr1:231132884 GRCh38: Chr1:230997138	ARV1	R231C, R264C	Developmental and epileptic encephalopathy, 38	Uncertain significance (Aug 16, 2019)	criteria provided, single submitter
Select item 18785782.	NM_022786.3(ARV1):c.573_574del (p.Leu192fs) GRCh37: Chr1:231131628-231131629 GRCh38: Chr1:230995882-230995883	ARV1	L192fs, L225fs	Developmental and epileptic encephalopathy, 38	Likely pathogenic	criteria provided, single submitter
Select item 13431483.	NM_022786.3(ARV1):c.175-3_175-2inv GRCh37: Chr1:231124063-231124064 GRCh38: Chr1:230988317-230988318	ARV1		Developmental and epileptic encephalopathy, 38	Pathogenic (Dec 16, 2020)	criteria provided, single submitter
Select item 11924794.	NM_022786.3(ARV1):c.175-11T>C GRCh37: Chr1:231124055 GRCh38: Chr1:230988309	ARV1		Developmental and epileptic encephalopathy, 38	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 10340105.	NM_022786.3(ARV1):c.29A>G (p.Gln10Arg) GRCh37: Chr1:231114880 GRCh38: Chr1:230979134	ARV1, LOC129932761	Q10R	Developmental and epileptic encephalopathy, 38	Uncertain significance (Oct 15, 2018)	criteria provided, single submitter
Select item 10287806.	NM_022786.3(ARV1):c.175-2A>G GRCh37: Chr1:231124064 GRCh38: Chr1:230988318	ARV1		Developmental and epileptic encephalopathy, 38	Likely pathogenic (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9828917.	NM_022786.3(ARV1):c.292_294+1del GRCh37: Chr1:231124183-231124186 GRCh38: Chr1:230988437-230988440	ARV1		Developmental and epileptic encephalopathy, 38	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 9826048.	NM_022786.3(ARV1):c.363_364del (p.Ser122fs) GRCh37: Chr1:231125924-231125925 GRCh38: Chr1:230990178-230990179	ARV1	S122fs	Developmental and epileptic encephalopathy, 38	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 8436599.	NM_022786.3(ARV1):c.101G>A (p.Cys34Tyr) GRCh37: Chr1:231114952 GRCh38: Chr1:230979206	ARV1, LOC129932761	C34Y	not provided, Developmental and epileptic encephalopathy, 38	Uncertain significance (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 83915110.	NM_022786.3(ARV1):c.518dup (p.Pro174fs) GRCh37: Chr1:231131566-231131567 GRCh38: Chr1:230995820-230995821	ARV1	P207fs, P174fs	Developmental and epileptic encephalopathy, 38, not provided	Pathogenic/Likely pathogenic (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52080411.	NM_022786.3(ARV1):c.674-2A>T GRCh37: Chr1:231132865 GRCh38: Chr1:230997119	ARV1		Developmental and epileptic encephalopathy, 38, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Mar 7, 2018)	criteria provided, conflicting interpretations
Select item 22449612.	NM_022786.3(ARV1):c.294+1G>A GRCh37: Chr1:231124186 GRCh38: Chr1:230988440	ARV1		ARV1-related condition	Pathogenic (Feb 13, 2015)	criteria provided, single submitter
Select item 18334113.	NM_022786.3(ARV1):c.565G>A (p.Gly189Arg) GRCh37: Chr1:231131622 GRCh38: Chr1:230995876	ARV1	G189R, G222R	Abnormality of the nervous system	Likely pathogenic (Jul 10, 2021)	criteria provided, single submitter