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) | ||||||||||
| single nucleotide variant | NM_001370658.1(BTD):c.805G>C (p.Ala269Pro) | BTD | Pathogenic | 3 | 15686228 | 15686228 | G | C | criteria provided, single submitter | - |
| single nucleotide variant | NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter) | BTD | Pathogenic/Likely pathogenic | 3 | 15686521 | 15686521 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA278383 |
| Deletion | NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) | BTD | Pathogenic/Likely pathogenic | 3 | 15686602 | 15686613 | GCTATCTCCACGT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA278384 |
| Duplication | NM_001370658.1(BTD):c.1334dup (p.Leu446fs) | BTD | Likely pathogenic | 3 | 15686752 | 15686753 | T | TG | criteria provided, single submitter | ClinGen:CA278397 |
| Deletion | NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs) | BTD | Pathogenic | 3 | 15686870 | 15686874 | AGGGAT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA220319 |
| single nucleotide variant | NM_001370658.1(BTD):c.566G>A (p.Arg189His) | BTD | Pathogenic | 3 | 15685989 | 15685989 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA220329 |
| 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.641C>T (p.Thr214Ile) | BTD | Pathogenic/Likely pathogenic | 3 | 15686064 | 15686064 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA278439 |
| 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 |
| Indel | NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs) | BTD | Pathogenic/Likely pathogenic | 3 | 15686590 | 15686604 | GGGAAAGGAAGGCTA | TTCCAATGGCC | criteria provided, multiple submitters, no conflicts | ClinGen:CA278470,OMIM:609019.0002 |
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