Knowledge base for genomic medicine in Japanese
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家族性大腸腺腫症
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_000038.6(APC):c.7511G>A (p.Trp2504Ter) | APC | Pathogenic | 5 | 112178802 | 112178802 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA248496 |
| single nucleotide variant | NM_002528.7(NTHL1):c.685+1G>A | NTHL1 | Pathogenic/Likely pathogenic | 16 | 2093567 | 2093567 | C | T | criteria provided, multiple submitters, no conflicts | OMIM:602656.0002,ClinGen:CA210446 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45796229 | 45796229 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA056613 |
| Deletion | NM_000038.6(APC):c.3404_3405del (p.Asp1134_Tyr1135insTer) | APC | Pathogenic | 5 | 112174694 | 112174695 | CTA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA350349 |
| Deletion | NM_000038.6(APC):c.3595_3596del (p.Lys1199fs) | APC | Pathogenic | 5 | 112174885 | 112174886 | CAA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA348347 |
| Deletion | NM_001048174.2(MUTYH):c.1017_1035del (p.Arg340fs) | MUTYH | Pathogenic | 1 | 45797400 | 45797418 | TGGCAGAGCTCTCCTCCCTG | T | criteria provided, single submitter | ClinGen:CA353501 |
| single nucleotide variant | NM_000038.6(APC):c.562C>T (p.Gln188Ter) | APC | Pathogenic | 5 | 112116517 | 112116517 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA353493 |
| Complex | chr5:112154359-112155228 complex variant | APC | Pathogenic | 5 | 112154359 | 112155228 | na | na | criteria provided, single submitter | - |
| single nucleotide variant | NM_001048174.2(MUTYH):c.1434+1G>T | MUTYH | Likely pathogenic | 1 | 45796187 | 45796187 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10577697 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.1387A>T (p.Lys463Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45796859 | 45796859 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10577699 |
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