ClinVar for MedGen (Select 1616061) - ClinVar - NCBI

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Items: 8

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16836361.	NM_006164.5(NFE2L2):c.868A>G (p.Ile290Val) GRCh37: Chr2:178096463 GRCh38: Chr2:177231735	NFE2L2	I190V, I217V, I260V, I267V, I274V, I290V	Immunodeficiency, developmental delay, and hypohomocysteinemia	Uncertain significance (Jan 29, 2022)	criteria provided, single submitter
Select item 14289342.	NM_006164.5(NFE2L2):c.89T>C (p.Leu30Pro) GRCh37: Chr2:178098956 GRCh38: Chr2:177234228	NFE2L2	L14P, L30P	Immunodeficiency, developmental delay, and hypohomocysteinemia, not provided	Conflicting interpretations of pathogenicity (Feb 2, 2022)	criteria provided, conflicting interpretations
Select item 14092013.	NM_006164.5(NFE2L2):c.1345C>T (p.Arg449Cys) GRCh37: Chr2:178095986 GRCh38: Chr2:177231258	NFE2L2	R376C, R449C, R419C, R349C, R433C, R426C	not provided, Immunodeficiency, developmental delay, and hypohomocysteinemia	Uncertain significance (May 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10330754.	NM_006164.5(NFE2L2):c.1624G>A (p.Glu542Lys) GRCh37: Chr2:178095707 GRCh38: Chr2:177230979	NFE2L2	E469K, E512K, E526K, E542K, E519K, E442K	Immunodeficiency, developmental delay, and hypohomocysteinemia	Uncertain significance (Apr 19, 2018)	criteria provided, single submitter
Select item 4451505.	NM_006164.5(NFE2L2):c.91G>A (p.Gly31Arg) GRCh37: Chr2:178098954 GRCh38: Chr2:177234226	NFE2L2	G31R, G15R	Immunodeficiency, developmental delay, and hypohomocysteinemia, Colorectal cancer	Pathogenic/Likely pathogenic (Aug 28, 2018)	no assertion criteria provided
Select item 4451496.	NM_006164.5(NFE2L2):c.241G>A (p.Gly81Ser) GRCh37: Chr2:178098804 GRCh38: Chr2:177234076	NFE2L2	G81S, G65S	Immunodeficiency, developmental delay, and hypohomocysteinemia	Pathogenic (Oct 30, 2017)	no assertion criteria provided
Select item 4451487.	NM_006164.5(NFE2L2):c.239C>A (p.Thr80Lys) GRCh37: Chr2:178098806 GRCh38: Chr2:177234078	NFE2L2	T80K, Q4K, T64K	not provided	Pathogenic (Apr 21, 2022)	criteria provided, single submitter
Select item 3764668.	NM_006164.5(NFE2L2):c.235G>A (p.Glu79Lys) GRCh37: Chr2:178098810 GRCh38: Chr2:177234082	NFE2L2	E63K, E79K	Neoplasm of uterine cervix, Immunodeficiency, developmental delay, and hypohomocysteinemia, Hepatocellular carcinoma, Squamous cell lung carcinoma, Lung adenocarcinoma, Squamous cell carcinoma of the head and neck, Transitional cell carcinoma of the bladder	Pathogenic/Likely pathogenic (Aug 28, 2018)	no assertion criteria provided