single nucleotide variant | NM_020451.3(SELENON):c.921G>A (p.Trp307Ter) | SELENON | Pathogenic | 1 | 26136222 | 26136222 | G | A | criteria provided, single submitter | ClinGen:CA339114664 |
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 |
Deletion | NM_020451.3(SELENON):c.997_1000del (p.Val333fs) | SELENON | Pathogenic | 1 | 26136297 | 26136300 | TCGTG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10602766 |
single nucleotide variant | NM_020451.3(SELENON):c.1090C>T (p.Gln364Ter) | SELENON | Pathogenic | 1 | 26138024 | 26138024 | C | T | criteria provided, single submitter | ClinGen:CA10602788 |
single nucleotide variant | NM_020451.3(SELENON):c.1096G>T (p.Glu366Ter) | SELENON | Pathogenic/Likely pathogenic | 1 | 26138185 | 26138185 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA275449 |
single nucleotide variant | NM_020451.3(SELENON):c.1180G>T (p.Glu394Ter) | SELENON | Pathogenic | 1 | 26138269 | 26138269 | G | T | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_020451.3(SELENON):c.1289dup (p.Tyr430Ter) | SELENON | Pathogenic | 1 | 26139184 | 26139185 | T | TA | criteria provided, single submitter | ClinGen:CA645372407 |
single nucleotide variant | NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter) | SELENON | Pathogenic | 1 | 26139211 | 26139211 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA223582 |
Deletion | NM_020451.3(SELENON):c.1332_1334del (p.Asn444del) | SELENON | Pathogenic/Likely pathogenic | 1 | 26139226 | 26139228 | GAAC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA645372408 |
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 |