Knowledge base for genomic medicine in Japanese
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肥大型心筋症
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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.70794del (p.Glu23599fs) | TTN | Likely pathogenic | 2 | 179440065 | 179440065 | CT | C | criteria provided, single submitter | ClinGen:CA658796004 |
| Indel | NM_001267550.2(TTN):c.70210_70223delinsTTTACTCTTC (p.Glu23404fs) | TTN | Likely pathogenic | 2 | 179440636 | 179440649 | TATCTGTTACATTC | GAAGAGTAAA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658796005 |
| Deletion | NM_001267550.2(TTN):c.62627del (p.Val20876fs) | TTN | Likely pathogenic | 2 | 179453825 | 179453825 | CA | C | criteria provided, single submitter | ClinGen:CA658796040 |
| single nucleotide variant | NM_001267550.2(TTN):c.59460G>A (p.Trp19820Ter) | TTN | Likely pathogenic | 2 | 179457272 | 179457272 | C | T | criteria provided, single submitter | ClinGen:CA349493406 |
| single nucleotide variant | NM_001267550.2(TTN):c.53288-1G>C | TTN | Likely pathogenic | 2 | 179472042 | 179472042 | C | G | criteria provided, single submitter | ClinGen:CA349565409 |
| single nucleotide variant | NM_001267550.2(TTN):c.50661C>A (p.Tyr16887Ter) | TTN | Likely pathogenic | 2 | 179476295 | 179476295 | G | T | criteria provided, single submitter | ClinGen:CA349593760 |
| Duplication | NM_001267550.2(TTN):c.50487_50490dup (p.Glu16831delinsLysTer) | TTN | Likely pathogenic | 2 | 179476545 | 179476546 | C | CATTT | criteria provided, single submitter | ClinGen:CA658795996 |
| single nucleotide variant | NM_001267550.2(TTN):c.49870C>T (p.Arg16624Ter) | TTN | Likely pathogenic | 2 | 179477578 | 179477578 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA349600656 |
| single nucleotide variant | NM_001267550.2(TTN):c.49858G>T (p.Glu16620Ter) | TTN | Likely pathogenic | 2 | 179477590 | 179477590 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA349600711 |
| single nucleotide variant | NM_001267550.2(TTN):c.45616G>T (p.Glu15206Ter) | TTN | Likely pathogenic | 2 | 179485829 | 179485829 | C | A | criteria provided, single submitter | ClinGen:CA60993942 |
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