Knowledge base for genomic medicine in Japanese
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筋原線維性ミオパチー
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_001267550.2(TTN):c.90653_90654del (p.Thr30218fs) | TTN | Likely pathogenic | 2 | 179416973 | 179416974 | CTG | C | criteria provided, single submitter | ClinGen:CA309454 |
| single nucleotide variant | NM_001267550.2(TTN):c.89280T>A (p.Tyr29760Ter) | TTN | Pathogenic/Likely pathogenic | 2 | 179418452 | 179418452 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA309511 |
| Deletion | NM_001267550.2(TTN):c.89270del (p.Lys29757fs) | TTN | Pathogenic | 2 | 179418462 | 179418462 | CT | C | criteria provided, single submitter | ClinGen:CA309453 |
| Duplication | NM_001267550.2(TTN):c.89006dup (p.Leu29670fs) | TTN | Pathogenic/Likely pathogenic | 2 | 179418831 | 179418832 | G | GA | criteria provided, multiple submitters, no conflicts | ClinGen:CA309452 |
| single nucleotide variant | NM_001267550.2(TTN):c.88837A>T (p.Lys29613Ter) | TTN | Pathogenic/Likely pathogenic | 2 | 179419237 | 179419237 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA309364 |
| Deletion | NM_001267550.2(TTN):c.88703_88704del (p.His29568fs) | TTN | Pathogenic/Likely pathogenic | 2 | 179419370 | 179419371 | AGT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA309451 |
| Deletion | NM_001267550.2(TTN):c.87848del (p.Leu29283fs) | TTN | Likely pathogenic | 2 | 179422141 | 179422141 | TA | T | criteria provided, single submitter | ClinGen:CA309450 |
| Deletion | NM_001267550.2(TTN):c.87820del (p.Leu29274fs) | TTN | Pathogenic | 2 | 179422169 | 179422169 | AG | A | criteria provided, single submitter | ClinGen:CA309449 |
| single nucleotide variant | NM_001267550.2(TTN):c.87751C>T (p.Arg29251Ter) | TTN | Pathogenic/Likely pathogenic | 2 | 179422238 | 179422238 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA309361 |
| Indel | NM_001267550.2(TTN):c.87418_87419delinsTGTTATTAGTGATATATCTAA (p.Pro29140delinsCysTyrTer) | TTN | Pathogenic | 2 | 179422662 | 179422663 | GG | TTAGATATATCACTAATAACA | criteria provided, single submitter | ClinGen:CA309448 |
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