Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_001267550.2(TTN):c.66464-2A>G | TTN | Likely pathogenic | 2 | 179446533 | 179446533 | T | C | 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 | - |
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.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.104947C>T (p.Gln34983Ter) | TTN | Likely pathogenic | 2 | 179396395 | 179396395 | G | A | criteria provided, single submitter | - |
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.80950G>T (p.Glu26984Ter) | TTN | Likely pathogenic | 2 | 179429909 | 179429909 | C | A | criteria provided, multiple submitters, no conflicts | - |