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_000256.3(MYBPC3):c.2994+2T>C | MYBPC3 | Pathogenic/Likely pathogenic | 11 | 47355471 | 47355471 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA013280 |
| single nucleotide variant | NM_000256.3(MYBPC3):c.2953A>T (p.Lys985Ter) | MYBPC3 | Pathogenic | 11 | 47355514 | 47355514 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA013224 |
| single nucleotide variant | NM_000256.3(MYBPC3):c.2920C>T (p.Gln974Ter) | MYBPC3 | Pathogenic | 11 | 47355547 | 47355547 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA013195 |
| single nucleotide variant | NM_000256.3(MYBPC3):c.2906-2A>G | MYBPC3 | Pathogenic/Likely pathogenic | 11 | 47355563 | 47355563 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA013161 |
| Deletion | NM_000256.3(MYBPC3):c.2875_2876del (p.Thr959fs) | MYBPC3 | Pathogenic | 11 | 47356622 | 47356623 | CGT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA013096 |
| single nucleotide variant | NM_000256.3(MYBPC3):c.2737+2T>A | MYBPC3 | Pathogenic | 11 | 47357426 | 47357426 | A | T | criteria provided, single submitter | ClinGen:CA012903 |
| Deletion | NM_000256.3(MYBPC3):c.2556del (p.Ile852fs) | MYBPC3 | Pathogenic | 11 | 47358988 | 47358988 | CG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA012627 |
| Deletion | NM_000256.3(MYBPC3):c.2517_2538del (p.Val840fs) | MYBPC3 | Pathogenic | 11 | 47359006 | 47359027 | AGACGCGCATCTCGTACACCACG | A | criteria provided, single submitter | ClinGen:CA012435 |
| single nucleotide variant | NM_000256.3(MYBPC3):c.2391C>A (p.Tyr797Ter) | MYBPC3 | Pathogenic | 11 | 47359263 | 47359263 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA012195 |
| single nucleotide variant | NM_000256.3(MYBPC3):c.2149-1G>A | MYBPC3 | Pathogenic | 11 | 47360231 | 47360231 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA011768 |
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