Indel | NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) | BTD | Pathogenic | 3 | 15676984 | 15676990 | GCGGCTG | TCC | criteria provided, multiple submitters, no conflicts | ClinGen:CA285306,OMIM:609019.0001 |
single nucleotide variant | NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) | BTD | Pathogenic | 3 | 15686958 | 15686958 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA278009,UniProtKB:P43251#VAR_005120,OMIM:609019.0011 |
single nucleotide variant | NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) | BTD | Pathogenic/Likely pathogenic | 3 | 15686975 | 15686975 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA220320,UniProtKB:P43251#VAR_005121,OMIM:609019.0003 |
single nucleotide variant | NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) | BTD | Pathogenic | 3 | 15686118 | 15686118 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA278012,OMIM:609019.0006 |
single nucleotide variant | NM_001370658.1(BTD):c.1308A>C (p.Gln436His) | BTD | Pathogenic/Likely pathogenic | 3 | 15686731 | 15686731 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA285304,UniProtKB:P43251#VAR_005119,OMIM:609019.0007 |
single nucleotide variant | NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) | BTD | Pathogenic/Likely pathogenic | 3 | 15677121 | 15677121 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA278016,OMIM:609019.0010 |
single nucleotide variant | NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser) | BTD | Pathogenic | 3 | 15686634 | 15686634 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys) | BTD | Pathogenic/Likely pathogenic | 3 | 15677164 | 15677164 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA278179 |
single nucleotide variant | NM_001370658.1(BTD):c.238G>A (p.Ala80Thr) | BTD | Likely pathogenic | 3 | 15677184 | 15677184 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001370658.1(BTD):c.274G>C (p.Glu92Gln) | BTD | Likely pathogenic | 3 | 15683439 | 15683439 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA278187 |