Knowledge base for genomic medicine in Japanese
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複合カルボキシラーゼ欠損症
小児・神経疾患
Excelでダウンロード最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。
https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| 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 |
| Deletion | NM_001370658.1(BTD):c.992del (p.Thr331fs) | BTD | Pathogenic | 3 | 15686415 | 15686415 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA278288 |
| single nucleotide variant | NM_001370658.1(BTD):c.1274G>T (p.Gly425Val) | BTD | Pathogenic | 3 | 15686697 | 15686697 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA278330 |
| 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 |
| 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.1253A>G (p.Tyr418Cys) | BTD | Likely pathogenic | 3 | 15686676 | 15686676 | A | G | criteria provided, single submitter | - |
| 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.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.1309G>A (p.Val437Met) | BTD | Pathogenic | 3 | 15686732 | 15686732 | G | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_001370658.1(BTD):c.1399T>C (p.Trp467Arg) | BTD | Pathogenic | 3 | 15686822 | 15686822 | T | C | criteria provided, single submitter | ClinGen:CA278344 |
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