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) | ||||||||||
| single nucleotide variant | NM_001267550.2(TTN):c.94220-1G>A | TTN | Likely pathogenic | 2 | 179412033 | 179412033 | C | T | criteria provided, single submitter | ClinGen:CA349476428 |
| Deletion | NM_001267550.2(TTN):c.103518del (p.Ala34507fs) | TTN | Likely pathogenic | 2 | 179397824 | 179397824 | CA | C | criteria provided, single submitter | ClinGen:CA658795984 |
| Duplication | NM_001267550.2(TTN):c.90623dup (p.Asn30208fs) | TTN | Likely pathogenic | 2 | 179417003 | 179417004 | A | AT | criteria provided, single submitter | ClinGen:CA658795969 |
| Duplication | NM_001267550.2(TTN):c.87733dup (p.Trp29245fs) | TTN | Likely pathogenic | 2 | 179422255 | 179422256 | C | CA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658795978 |
| single nucleotide variant | NM_001267550.2(TTN):c.78075C>A (p.Tyr26025Ter) | TTN | Likely pathogenic | 2 | 179432784 | 179432784 | G | T | criteria provided, single submitter | ClinGen:CA349603821 |
| single nucleotide variant | NM_001267550.2(TTN):c.82879C>T (p.Gln27627Ter) | TTN | Likely pathogenic | 2 | 179427980 | 179427980 | G | A | criteria provided, single submitter | ClinGen:CA349570886 |
| single nucleotide variant | NM_001267550.2(TTN):c.85755T>A (p.Tyr28585Ter) | TTN | Likely pathogenic | 2 | 179425104 | 179425104 | A | T | criteria provided, single submitter | ClinGen:CA349548137 |
| Deletion | NM_001267550.2(TTN):c.74536del (p.Val24846fs) | TTN | Likely pathogenic | 2 | 179436323 | 179436323 | AC | A | criteria provided, single submitter | ClinGen:CA658796033 |
| Duplication | NM_001267550.2(TTN):c.96909dup (p.Pro32304fs) | TTN | Likely pathogenic | 2 | 179407671 | 179407672 | G | GC | criteria provided, single submitter | ClinGen:CA658795967 |
| single nucleotide variant | NM_001267550.2(TTN):c.74638C>T (p.Gln24880Ter) | TTN | Likely pathogenic | 2 | 179436221 | 179436221 | G | A | criteria provided, single submitter | ClinGen:CA349632580 |
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