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_001048174.2(MUTYH):c.856C>T (p.Gln286Ter) | MUTYH | Pathogenic | 1 | 45797752 | 45797752 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA014709 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798117 | 45798117 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA014226 |
| single nucleotide variant | NM_000038.6(APC):c.637C>T (p.Arg213Ter) | APC | Pathogenic | 5 | 112116592 | 112116592 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA011131 |
| Duplication | NM_000038.6(APC):c.935dup (p.Glu313fs) | APC | Pathogenic/Likely pathogenic | 5 | 112154663 | 112154664 | G | GT | criteria provided, multiple submitters, no conflicts | ClinGen:CA164300 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.1103-2A>G | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797230 | 45797230 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA012245 |
| Deletion | NM_000038.6(APC):c.147_150del (p.Lys49fs) | APC | Pathogenic | 5 | 112102032 | 112102035 | TAAAC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA005200 |
| Deletion | NM_001048174.2(MUTYH):c.49del (p.Ala17fs) | MUTYH | Pathogenic | 1 | 45800129 | 45800129 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA014621 |
| single nucleotide variant | NM_000038.6(APC):c.220+2T>A | APC | Pathogenic/Likely pathogenic | 5 | 112102109 | 112102109 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA007244 |
| Duplication | NM_000038.6(APC):c.2680_2686dup (p.Ala896fs) | APC | Pathogenic | 5 | 112173970 | 112173971 | A | AGTGTCAG | criteria provided, multiple submitters, no conflicts | ClinGen:CA166045 |
| Deletion | NM_000038.6(APC):c.2004del (p.His668_Leu669insTer) | APC | Pathogenic | 5 | 112173295 | 112173295 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA007161 |
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