single nucleotide variant | NM_020451.3(SELENON):c.1358G>C (p.Trp453Ser) | SELENON | Likely pathogenic | 1 | 26139254 | 26139254 | G | C | criteria provided, single submitter | ClinGen:CA253171,UniProtKB:Q9NZV5#VAR_019639,OMIM:606210.0005 |
Duplication | NM_020451.3(SELENON):c.713dup (p.Asn238fs) | SELENON | Pathogenic | 1 | 26135244 | 26135245 | C | CA | criteria provided, multiple submitters, no conflicts | ClinGen:CA253172,OMIM:606210.0006 |
single nucleotide variant | NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) | SELENON | Pathogenic/Likely pathogenic | 1 | 26136244 | 26136244 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA223589,UniProtKB:Q9NZV5#VAR_019637,OMIM:606210.0008 |
single nucleotide variant | NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) | LMNA | Pathogenic | 1 | 156084725 | 156084725 | C | T | criteria provided, single submitter | ClinGen:CA017675,OMIM:150330.0001 |
single nucleotide variant | NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) | LMNA | Pathogenic/Likely pathogenic | 1 | 156106204 | 156106204 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA017033,UniProtKB:P02545#VAR_009988,OMIM:150330.0002 |
single nucleotide variant | NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) | LMNA | Pathogenic | 1 | 156106995 | 156106995 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA017498,UniProtKB:P02545#VAR_009995,OMIM:150330.0003 |
single nucleotide variant | NM_170707.4(LMNA):c.585C>G (p.Asn195Lys) | LMNA | Pathogenic | 1 | 156104265 | 156104265 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA018275,UniProtKB:P02545#VAR_009977,OMIM:150330.0007 |
single nucleotide variant | NM_170707.4(LMNA):c.608A>G (p.Glu203Gly) | LMNA | Pathogenic | 1 | 156104288 | 156104288 | A | G | criteria provided, single submitter | ClinGen:CA018298,UniProtKB:P02545#VAR_009978,OMIM:150330.0008 |
single nucleotide variant | NM_170707.4(LMNA):c.398G>T (p.Arg133Leu) | LMNA | Pathogenic | 1 | 156100449 | 156100449 | G | T | criteria provided, single submitter | ClinGen:CA018044,UniProtKB:P02545#VAR_016913,OMIM:150330.0027 |
single nucleotide variant | NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) | LMNA | Pathogenic | 1 | 156106775 | 156106775 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA017258,UniProtKB:P02545#VAR_009993,OMIM:150330.0011 |