single nucleotide variant | NM_000751.3(CHRND):c.1385G>T (p.Trp462Leu) | CHRND | Likely pathogenic | 2 | 233399853 | 233399853 | G | T | criteria provided, single submitter | ClinGen:CA16043388 |
single nucleotide variant | NM_000751.3(CHRND):c.933-2A>G | CHRND | Likely pathogenic | 2 | 233396250 | 233396250 | A | G | criteria provided, single submitter | ClinGen:CA16617496 |
single nucleotide variant | NM_000751.3(CHRND):c.866C>T (p.Ser289Phe) | CHRND | Likely pathogenic | 2 | 233396107 | 233396107 | C | T | criteria provided, single submitter | ClinGen:CA128062,UniProtKB:Q07001#VAR_019566,OMIM:100720.0001 |
Deletion | NM_000751.3(CHRND):c.822del (p.Ser274fs) | CHRND | Likely pathogenic | 2 | 233396063 | 233396063 | GT | G | criteria provided, single submitter | ClinGen:CA16043387 |
single nucleotide variant | NM_000751.3(CHRND):c.821-2A>C | CHRND | Pathogenic/Likely pathogenic | 2 | 233396060 | 233396060 | A | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000751.3(CHRND):c.820_820+1del | CHRND | Pathogenic | 2 | 233394849 | 233394850 | CAG | C | criteria provided, single submitter | ClinGen:CA10575541,Leiden Muscular Dystrophy (CHRND):CHRND_00013,OMIM:100720.0004 |
single nucleotide variant | NM_000751.3(CHRND):c.769T>C (p.Cys257Arg) | CHRND | Pathogenic | 2 | 233394798 | 233394798 | T | C | criteria provided, single submitter | ClinGen:CA66952998 |
Duplication | NM_000751.3(CHRND):c.521_524dup (p.Ala176fs) | CHRND | Pathogenic | 2 | 233393582 | 233393583 | T | TATAC | criteria provided, single submitter | - |
single nucleotide variant | NM_000751.3(CHRND):c.234G>A (p.Trp78Ter) | CHRND | Pathogenic | 2 | 233392146 | 233392146 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA128067,OMIM:100720.0005 |
single nucleotide variant | NM_000079.4(CHRNA1):c.175C>T (p.Gln59Ter) | CHRNA1 | Pathogenic | 2 | 175624230 | 175624230 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA1974690 |