Deletion | NM_000080.4(CHRNE):c.1319_1326+15del | CHRNE | Pathogenic/Likely pathogenic | 17 | 4802281 | 4802303 | CTGGCTCCTGTCCCACCTCGCCGG | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000080.4(CHRNE):c.235-2A>G | CHRNE | Likely pathogenic | 17 | 4805623 | 4805623 | T | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000747.3(CHRNB1):c.354-1G>A | CHRNB1 | Likely pathogenic | 17 | 7350361 | 7350361 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_130811.4(SNAP25):c.142G>T (p.Val48Phe) | SNAP25 | Likely pathogenic | 20 | 10265399 | 10265399 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA204648 |
single nucleotide variant | NM_130811.4(SNAP25):c.200T>A (p.Ile67Asn) | SNAP25 | Pathogenic | 20 | 10273845 | 10273845 | T | A | criteria provided, single submitter | ClinGen:CA10586162,UniProtKB:P60880#VAR_073698,OMIM:600322.0001 |
single nucleotide variant | NM_005984.5(SLC25A1):c.844C>G (p.Arg282Gly) | SLC25A1 | Likely pathogenic | 22 | 19163735 | 19163735 | G | C | criteria provided, single submitter | ClinGen:CA130978,UniProtKB:P53007#VAR_069496,OMIM:190315.0001 |
single nucleotide variant | NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys) | SLC25A1 | Pathogenic/Likely pathogenic | 22 | 19163735 | 19163735 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA130979,UniProtKB:P53007#VAR_069495,OMIM:190315.0002 |
single nucleotide variant | NM_005984.5(SLC25A1):c.821C>T (p.Ala274Val) | SLC25A1 | Likely pathogenic | 22 | 19163934 | 19163934 | G | A | criteria provided, single submitter | ClinGen:CA130984,OMIM:190315.0005 |
Deletion | NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs) | SLC25A1 | Pathogenic/Likely pathogenic | 22 | 19164633 | 19164642 | CCTTGTTCCCG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA130986,OMIM:190315.0006 |
Indel | NM_005984.5(SLC25A1):c.657_665delinsGACCTC (p.Asn219_Ile222delinsLysThrSer) | SLC25A1 | Likely pathogenic | 22 | 19164173 | 19164181 | ATCAGAGGG | GAGGTC | criteria provided, single submitter | ClinGen:CA16621035 |