Duplication | NM_003373.4(VCL):c.670dup (p.Glu224fs) | VCL | Likely pathogenic | 10 | 75834547 | 75834548 | A | AG | criteria provided, single submitter | ClinGen:CA10576823 |
single nucleotide variant | NM_014000.3(VCL):c.1531G>T (p.Asp511Tyr) | VCL | Likely pathogenic | 10 | 75854207 | 75854207 | G | T | criteria provided, single submitter | ClinGen:CA279267 |
single nucleotide variant | NM_014000.3(VCL):c.1762C>T (p.Gln588Ter) | VCL | Likely pathogenic | 10 | 75856980 | 75856980 | C | T | criteria provided, single submitter | ClinGen:CA273521 |
single nucleotide variant | NM_014000.3(VCL):c.1544-2A>G | VCL | Likely pathogenic | 10 | 75855412 | 75855412 | A | G | criteria provided, single submitter | ClinGen:CA273292 |
single nucleotide variant | NM_001267550.2(TTN):c.80950G>T (p.Glu26984Ter) | TTN | Likely pathogenic | 2 | 179429909 | 179429909 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter) | TTN | Likely pathogenic | 2 | 179428334 | 179428334 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001267550.2(TTN):c.104947C>T (p.Gln34983Ter) | TTN | Likely pathogenic | 2 | 179396395 | 179396395 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001267550.2(TTN):c.56347+1G>A | TTN | Likely pathogenic | 2 | 179464280 | 179464280 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001267550.2(TTN):c.56648-1G>A | TTN | Likely pathogenic | 2 | 179463790 | 179463790 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001267550.2(TTN):c.55121-1G>A | TTN | Likely pathogenic | 2 | 179466878 | 179466878 | C | T | criteria provided, single submitter | - |