Knowledge base for genomic medicine in Japanese
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肥大型心筋症
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.88184del (p.Phe29395fs) | TTN | Likely pathogenic | 2 | 179421697 | 179421697 | GA | G | criteria provided, single submitter | ClinGen:CA658795977 |
| single nucleotide variant | NM_001267550.2(TTN):c.86620G>T (p.Gly28874Ter) | TTN | Likely pathogenic | 2 | 179424239 | 179424239 | C | A | criteria provided, single submitter | ClinGen:CA349542598 |
| Duplication | NM_001267550.2(TTN):c.86076dup (p.Ser28693fs) | TTN | Pathogenic | 2 | 179424782 | 179424783 | A | AT | criteria provided, multiple submitters, no conflicts | ClinGen:CA538435303 |
| Duplication | NM_001267550.2(TTN):c.84557dup (p.Ile28187fs) | TTN | Likely pathogenic | 2 | 179426301 | 179426302 | T | TA | criteria provided, single submitter | ClinGen:CA658795999 |
| Deletion | NM_001267550.2(TTN):c.84476del (p.Gly28159fs) | TTN | Likely pathogenic | 2 | 179426383 | 179426383 | AC | A | criteria provided, single submitter | ClinGen:CA658796000 |
| Deletion | NM_001267550.2(TTN):c.81126del (p.Glu27042fs) | TTN | Likely pathogenic | 2 | 179429733 | 179429733 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658796021 |
| single nucleotide variant | NM_001267550.2(TTN):c.77227G>T (p.Glu25743Ter) | TTN | Likely pathogenic | 2 | 179433632 | 179433632 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA349611790 |
| single nucleotide variant | NM_001267550.2(TTN):c.75974G>A (p.Trp25325Ter) | TTN | Likely pathogenic | 2 | 179434885 | 179434885 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA349618632 |
| Deletion | NM_001267550.2(TTN):c.75479_75482del (p.Ile25160fs) | TTN | Likely pathogenic | 2 | 179435377 | 179435380 | CTTTA | C | criteria provided, single submitter | ClinGen:CA658796031 |
| Indel | NM_001267550.2(TTN):c.72645delinsCTGCAA (p.Ala24216fs) | TTN | Likely pathogenic | 2 | 179438214 | 179438214 | A | TTGCAG | criteria provided, single submitter | ClinGen:CA658796038 |
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