Knowledge base for genomic medicine in Japanese
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特発性拡張型心筋症
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.74608del (p.Ala24870fs) | TTN | Pathogenic/Likely pathogenic | 2 | 179436251 | 179436251 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10581845 |
| single nucleotide variant | NM_001267550.2(TTN):c.69553C>T (p.Arg23185Ter) | TTN | Likely pathogenic | 2 | 179441418 | 179441418 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10581850 |
| single nucleotide variant | NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter) | TTN | Pathogenic/Likely pathogenic | 2 | 179454531 | 179454531 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10581854 |
| single nucleotide variant | NM_001267550.2(TTN):c.57008C>A (p.Ser19003Ter) | TTN | Likely pathogenic | 2 | 179463336 | 179463336 | G | T | criteria provided, single submitter | ClinGen:CA10581861 |
| single nucleotide variant | NM_001927.4(DES):c.1013T>C (p.Leu338Pro) | DES | Likely pathogenic | 2 | 220285665 | 220285665 | T | C | criteria provided, single submitter | ClinGen:CA10581950 |
| single nucleotide variant | NM_004168.4(SDHA):c.1A>G (p.Met1Val) | SDHA | Pathogenic/Likely pathogenic | 5 | 218471 | 218471 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA3172674 |
| Deletion | NM_004168.4(SDHA):c.457-2_457del | SDHA | Pathogenic | 5 | 225995 | 225997 | ACAG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10582418 |
| single nucleotide variant | NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter) | SDHA | Pathogenic | 5 | 233750 | 233750 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10582426 |
| Deletion | NM_004168.4(SDHA):c.1432_1432+1del | SDHA | Pathogenic/Likely pathogenic | 5 | 236714 | 236715 | TGG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10582429 |
| single nucleotide variant | NM_004168.4(SDHA):c.1432+1G>C | SDHA | Likely pathogenic | 5 | 236715 | 236715 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10582430 |
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