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) | ||||||||||
| single nucleotide variant | NM_001267550.2(TTN):c.74041C>T (p.Gln24681Ter) | TTN | Likely pathogenic | 2 | 179436818 | 179436818 | G | A | criteria provided, single submitter | - |
| Deletion | NM_001267550.2(TTN):c.72873del (p.His24291fs) | TTN | Likely pathogenic | 2 | 179437986 | 179437986 | CA | C | criteria provided, single submitter | - |
| single nucleotide variant | NM_001267550.2(TTN):c.70879C>T (p.Gln23627Ter) | TTN | Likely pathogenic | 2 | 179439980 | 179439980 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001267550.2(TTN):c.69558G>A (p.Trp23186Ter) | TTN | Likely pathogenic | 2 | 179441413 | 179441413 | C | T | criteria provided, single submitter | - |
| Deletion | NM_001267550.2(TTN):c.68941del (p.Trp22981fs) | TTN | Likely pathogenic | 2 | 179442121 | 179442121 | CA | C | criteria provided, single submitter | - |
| Deletion | NM_001267550.2(TTN):c.68876_68883del (p.Lys22959fs) | TTN | Likely pathogenic | 2 | 179442179 | 179442186 | CCCCTGCTT | C | criteria provided, single submitter | - |
| Duplication | NM_001267550.2(TTN):c.68325dup (p.Thr22776fs) | TTN | Likely pathogenic | 2 | 179443341 | 179443342 | T | TA | criteria provided, single submitter | - |
| single nucleotide variant | NM_001267550.2(TTN):c.64318A>T (p.Arg21440Ter) | TTN | Likely pathogenic | 2 | 179451310 | 179451310 | T | A | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_001267550.2(TTN):c.64297del (p.Glu21433fs) | TTN | Likely pathogenic | 2 | 179451331 | 179451331 | TC | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_001267550.2(TTN):c.64222G>T (p.Glu21408Ter) | TTN | Likely pathogenic | 2 | 179451406 | 179451406 | C | A | criteria provided, single submitter | - |
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