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 |
single nucleotide variant | NM_001370658.1(BTD):c.385T>C (p.Phe129Leu) | BTD | Likely pathogenic | 3 | 15683550 | 15683550 | T | C | criteria provided, single submitter | ClinGen:CA278206 |
single nucleotide variant | NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys) | BTD | Likely pathogenic | 3 | 15686676 | 15686676 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys) | BTD | Likely pathogenic | 3 | 15686982 | 15686982 | A | G | criteria provided, single submitter | ClinGen:CA278359 |
Duplication | NM_001370658.1(BTD):c.1334dup (p.Leu446fs) | BTD | Likely pathogenic | 3 | 15686752 | 15686753 | T | TG | criteria provided, single submitter | ClinGen:CA278397 |
single nucleotide variant | NM_001370658.1(BTD):c.395C>G (p.Thr132Arg) | BTD | Likely pathogenic | 3 | 15683560 | 15683560 | C | G | criteria provided, single submitter | ClinGen:CA278435 |
single nucleotide variant | NM_001370658.1(BTD):c.838A>C (p.Asn280His) | BTD | Likely pathogenic | 3 | 15686261 | 15686261 | A | C | criteria provided, single submitter | ClinGen:CA278441 |
single nucleotide variant | NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala) | HLCS | Likely pathogenic | 21 | 38309023 | 38309023 | C | G | criteria provided, single submitter | ClinGen:CA10654770 |
single nucleotide variant | NM_001370658.1(BTD):c.-18A>T | BTD | Likely pathogenic | 3 | 15643400 | 15643400 | A | T | criteria provided, single submitter | ClinGen:CA16040904 |