single nucleotide variant | NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) | TMEM43 | Pathogenic | 3 | 14183165 | 14183165 | C | T | criteria provided, multiple submitters, no conflicts | OMIM:612048.0001,ClinGen:CA024568,UniProtKB:Q9BTV4#VAR_044438 |
Deletion | NM_020451.2(SELENON):c.-64_36del | SELENON | Pathogenic | 1 | 26126650 | 26126749 | CGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCG | C | criteria provided, single submitter | - |
Deletion | NM_020451.2(SELENON):c.-55_183del | SELENON | Pathogenic | 1 | 26126666 | 26126903 | GGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCA | G | criteria provided, single submitter | - |
Deletion | NM_020451.3(SELENON):c.-11_81del (p.Met1fs) | SELENON | Pathogenic | 1 | 26126703 | 26126794 | AGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16042327,OMIM:606210.0009 |
single nucleotide variant | NM_020451.3(SELENON):c.1A>G (p.Met1Val) | SELENON | Pathogenic/Likely pathogenic | 1 | 26126722 | 26126722 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA253168,OMIM:606210.0003 |
single nucleotide variant | NM_020451.3(SELENON):c.2T>G (p.Met1Arg) | SELENON | Pathogenic | 1 | 26126723 | 26126723 | T | G | criteria provided, single submitter | ClinGen:CA339105612 |
single nucleotide variant | NM_020451.3(SELENON):c.2T>C (p.Met1Thr) | SELENON | Pathogenic | 1 | 26126723 | 26126723 | T | C | criteria provided, single submitter | ClinGen:CA339105610 |
Duplication | NM_020451.3(SELENON):c.13_22dup (p.Gln8fs) | SELENON | Pathogenic | 1 | 26126724 | 26126725 | G | GGGCCGGGCCC | criteria provided, multiple submitters, no conflicts | ClinGen:CA274921,OMIM:606210.0013 |
Deletion | NM_020451.3(SELENON):c.9_33del (p.Ala4fs) | SELENON | Pathogenic | 1 | 26126724 | 26126748 | TGGGCCGGGCCCGGCCGGGCCAACGC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10602785 |
Duplication | NM_020451.3(SELENON):c.44_72dup (p.Arg25fs) | SELENON | Pathogenic | 1 | 26126761 | 26126762 | C | CCCGGCCCCGCCGCGCAGCCTCCCGCGCCA | criteria provided, multiple submitters, no conflicts | ClinGen:CA274920 |