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複合カルボキシラーゼ欠損症
小児・神経疾患
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| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| single nucleotide variant | NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) | BTD | Pathogenic/Likely pathogenic | 3 | 15686992 | 15686992 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA220321 |
| single nucleotide variant | NM_001370658.1(BTD):c.1553G>A (p.Arg518His) | BTD | Pathogenic/Likely pathogenic | 3 | 15686976 | 15686976 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA278356 |
| Deletion | NM_001370658.1(BTD):c.1399del (p.Trp467fs) | BTD | Pathogenic/Likely pathogenic | 3 | 15686822 | 15686822 | GT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA278346 |
| single nucleotide variant | NM_001370658.1(BTD):c.1279C>T (p.His427Tyr) | BTD | Pathogenic/Likely pathogenic | 3 | 15686702 | 15686702 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA278332 |
| single nucleotide variant | NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter) | BTD | Pathogenic/Likely pathogenic | 3 | 15686677 | 15686677 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA278326 |
| single nucleotide variant | NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr) | BTD | Pathogenic/Likely pathogenic | 3 | 15686634 | 15686634 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA278316 |
| single nucleotide variant | NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser) | BTD | Pathogenic/Likely pathogenic | 3 | 15686616 | 15686616 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA278309 |
| Deletion | NM_001370658.1(BTD):c.873del (p.Ser291fs) | BTD | Pathogenic/Likely pathogenic | 3 | 15686296 | 15686296 | GT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA278280 |
| single nucleotide variant | NM_001370658.1(BTD):c.535G>A (p.Val179Met) | BTD | Pathogenic/Likely pathogenic | 3 | 15685958 | 15685958 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA278235 |
| single nucleotide variant | NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) | BTD | Pathogenic/Likely pathogenic | 3 | 15685920 | 15685920 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA220327 |
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