single nucleotide variant | NM_004369.4(COL6A3):c.6193G>C (p.Gly2065Arg) | COL6A3 | Pathogenic/Likely pathogenic | 2 | 238269781 | 238269781 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10604911 |
single nucleotide variant | NM_004369.4(COL6A3):c.6193G>A (p.Gly2065Ser) | COL6A3 | Likely pathogenic | 2 | 238269781 | 238269781 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA215987 |
single nucleotide variant | NM_004369.4(COL6A3):c.6210+1G>A | COL6A3 | Pathogenic | 2 | 238269763 | 238269763 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA222636,OMIM:120250.0004 |
Deletion | NM_004369.4(COL6A3):c.6212_6309+28del | COL6A3 | Pathogenic | 2 | 238267977 | 238268801 | ATTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCAC | A | criteria provided, single submitter | ClinGen:CA658796209 |
single nucleotide variant | NM_004369.4(COL6A3):c.6212G>A (p.Gly2071Asp) | COL6A3 | Likely pathogenic | 2 | 238268801 | 238268801 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10605883 |
single nucleotide variant | NM_004369.4(COL6A3):c.6220G>A (p.Gly2074Ser) | COL6A3 | Pathogenic | 2 | 238268793 | 238268793 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10606535 |
single nucleotide variant | NM_004369.4(COL6A3):c.6230G>A (p.Gly2077Asp) | COL6A3 | Pathogenic/Likely pathogenic | 2 | 238268783 | 238268783 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA351216671 |
single nucleotide variant | NM_004369.4(COL6A3):c.6230G>T (p.Gly2077Val) | COL6A3 | Pathogenic | 2 | 238268783 | 238268783 | C | A | criteria provided, single submitter | ClinGen:CA351216678 |
single nucleotide variant | NM_004369.4(COL6A3):c.6238G>C (p.Gly2080Arg) | COL6A3 | Pathogenic/Likely pathogenic | 2 | 238268775 | 238268775 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA351216634 |
single nucleotide variant | NM_004369.4(COL6A3):c.6238G>A (p.Gly2080Ser) | COL6A3 | Likely pathogenic | 2 | 238268775 | 238268775 | C | T | criteria provided, single submitter | ClinGen:CA351216635 |