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) | ||||||||||
| Duplication | NM_001267550.2(TTN):c.98265_98268dup (p.His32757fs) | TTN | Likely pathogenic | 2 | 179404523 | 179404524 | G | GTGTT | criteria provided, single submitter | ClinGen:CA353333 |
| single nucleotide variant | NM_001267550.2(TTN):c.101996G>A (p.Trp33999Ter) | TTN | Likely pathogenic | 2 | 179399346 | 179399346 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA353051 |
| Deletion | NM_001267550.2(TTN):c.106629del (p.Ala35544fs) | TTN | Pathogenic/Likely pathogenic | 2 | 179393849 | 179393849 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA353205 |
| single nucleotide variant | NM_001267550.2(TTN):c.49346-1G>A | TTN | Pathogenic/Likely pathogenic | 2 | 179478665 | 179478665 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA353085 |
| Deletion | NM_001267550.2(TTN):c.50247del (p.Phe16749fs) | TTN | Likely pathogenic | 2 | 179477005 | 179477005 | TA | T | criteria provided, single submitter | ClinGen:CA353291 |
| single nucleotide variant | NM_001267550.2(TTN):c.53488G>T (p.Gly17830Ter) | TTN | Likely pathogenic | 2 | 179471841 | 179471841 | C | A | criteria provided, single submitter | ClinGen:CA123879 |
| Deletion | NM_001267550.2(TTN):c.58172del (p.Asp19391fs) | TTN | Likely pathogenic | 2 | 179458948 | 179458948 | GT | G | criteria provided, single submitter | ClinGen:CA353094 |
| single nucleotide variant | NM_001267550.2(TTN):c.59627-1G>A | TTN | Likely pathogenic | 2 | 179457005 | 179457005 | C | T | criteria provided, single submitter | ClinGen:CA353250 |
| single nucleotide variant | NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) | TTN | Pathogenic/Likely pathogenic | 2 | 179452435 | 179452435 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA130338 |
| single nucleotide variant | NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter) | TTN | Pathogenic/Likely pathogenic | 2 | 179450018 | 179450018 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA090110 |
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