Knowledge base for genomic medicine in Japanese
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遺伝性混合ポリポーシス症候群
腫瘍性疾患
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) | ||||||||||
| single nucleotide variant | NM_004329.3(BMPR1A):c.262G>T (p.Glu88Ter) | BMPR1A | Pathogenic | 10 | 88651915 | 88651915 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA298508 |
| single nucleotide variant | NM_004329.3(BMPR1A):c.1A>G (p.Met1Val) | BMPR1A | Pathogenic/Likely pathogenic | 10 | 88635776 | 88635776 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA195612 |
| Deletion | NM_004329.3(BMPR1A):c.176del (p.Phe58_Leu59insTer) | BMPR1A | Pathogenic | 10 | 88649922 | 88649922 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA186193 |
| Duplication | NM_004329.3(BMPR1A):c.216dup (p.Asn73Ter) | BMPR1A | Pathogenic | 10 | 88649965 | 88649966 | A | AT | criteria provided, multiple submitters, no conflicts | ClinGen:CA189133 |
| Deletion | NM_004329.3(BMPR1A):c.420del (p.Val141fs) | BMPR1A | Pathogenic | 10 | 88659637 | 88659637 | CT | C | criteria provided, single submitter | ClinGen:CA190154 |
| single nucleotide variant | NM_004329.3(BMPR1A):c.1081C>T (p.Arg361Ter) | BMPR1A | Pathogenic | 10 | 88679141 | 88679141 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA186249 |
| single nucleotide variant | NM_004329.3(BMPR1A):c.1480C>T (p.Arg494Ter) | BMPR1A | Pathogenic/Likely pathogenic | 10 | 88683357 | 88683357 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA186232 |
| Deletion | NM_004329.3(BMPR1A):c.247_251del (p.Phe83fs) | BMPR1A | Pathogenic | 10 | 88651896 | 88651900 | ATTGCT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA334485 |
| single nucleotide variant | NM_004329.3(BMPR1A):c.3G>C (p.Met1Ile) | BMPR1A | Pathogenic/Likely pathogenic | 10 | 88635778 | 88635778 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA353511 |
| Duplication | NM_004329.3(BMPR1A):c.286_289dup (p.Ala97fs) | BMPR1A | Pathogenic | 10 | 88651938 | 88651939 | A | ATTAG | criteria provided, single submitter | ClinGen:CA353504 |
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