Knowledge base for genomic medicine in Japanese
キーワードを入力してMGenReviewsサイト内を検索できます。
リンチ症候群
腫瘍性疾患
Excelでダウンロード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_000249.4(MLH1):c.1918C>T (p.Pro640Ser) | MLH1 | Likely pathogenic | 3 | 37090029 | 37090029 | C | T | reviewed by expert panel | ClinGen:CA007602,UniProtKB:P40692#VAR_043429 |
| single nucleotide variant | NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu) | MLH1 | Likely pathogenic | 3 | 37090030 | 37090030 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA007611,UniProtKB:P40692#VAR_054536 |
| Duplication | NM_000249.4(MLH1):c.191dup (p.Asn64fs) | MLH1 | Pathogenic | 3 | 37038182 | 37038183 | C | CA | reviewed by expert panel | ClinGen:CA007569 |
| Insertion | NM_000249.4(MLH1):c.1920_1921insT (p.Leu641fs) | MLH1 | Pathogenic | 3 | 37090031 | 37090032 | C | CT | reviewed by expert panel | ClinGen:CA007631 |
| Deletion | NM_000249.4(MLH1):c.1930del (p.Asp644fs) | MLH1 | Pathogenic | 3 | 37090041 | 37090041 | TG | T | reviewed by expert panel | ClinGen:CA007645 |
| single nucleotide variant | NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu) | MLH1 | Likely pathogenic | 3 | 37090054 | 37090054 | C | T | reviewed by expert panel | ClinGen:CA007716,UniProtKB:P40692#VAR_012928 |
| Deletion | NM_000249.4(MLH1):c.1946del (p.Pro649fs) | MLH1 | Pathogenic | 3 | 37090053 | 37090053 | GC | G | reviewed by expert panel | ClinGen:CA007726 |
| single nucleotide variant | NM_000249.4(MLH1):c.194G>A (p.Gly65Asp) | MLH1 | Likely pathogenic | 3 | 37038187 | 37038187 | G | A | reviewed by expert panel | ClinGen:CA007735 |
| Deletion | NM_000249.4(MLH1):c.1953_1956del (p.Glu651fs) | MLH1 | Pathogenic | 3 | 37090061 | 37090064 | TGGAG | T | reviewed by expert panel | ClinGen:CA007743 |
| single nucleotide variant | NM_000249.4(MLH1):c.1958T>G (p.Leu653Arg) | MLH1 | Likely pathogenic | 3 | 37090069 | 37090069 | T | G | reviewed by expert panel | ClinGen:CA007760 |
Copyright © National Center for Global Health and Medicine. All rights reserved.