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。
特発性拡張型心筋症
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_001018005.2(TPM1):c.163G>A (p.Asp55Asn) | TPM1 | Likely pathogenic | 15 | 63336274 | 63336274 | G | A | criteria provided, single submitter | ClinGen:CA017879 |
| single nucleotide variant | NM_001018005.2(TPM1):c.341A>G (p.Glu114Gly) | TPM1 | Likely pathogenic | 15 | 63349284 | 63349284 | A | G | criteria provided, single submitter | ClinGen:CA017987 |
| single nucleotide variant | NM_001018005.2(TPM1):c.423G>C (p.Met141Ile) | TPM1 | Likely pathogenic | 15 | 63351810 | 63351810 | G | C | criteria provided, single submitter | ClinGen:CA018027 |
| single nucleotide variant | NM_001018005.2(TPM1):c.712C>T (p.Arg238Trp) | TPM1 | Likely pathogenic | 15 | 63354784 | 63354784 | C | T | criteria provided, single submitter | ClinGen:CA018292 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.294T>G (p.Asp98Glu) | TNNT2 | Likely pathogenic | 1 | 201334738 | 201334738 | A | C | criteria provided, single submitter | ClinGen:CA004247 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201334745 | 201334745 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA004228 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) | TNNT2 | Pathogenic | 1 | 201334426 | 201334426 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA004266,UniProtKB:P45379#VAR_016196 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.311G>A (p.Arg104His) | TNNT2 | Pathogenic | 1 | 201334419 | 201334419 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA004294 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201334419 | 201334419 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA004302 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn) | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201334409 | 201334409 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA004322 |
Copyright © Japan Institute for Health Security. All rights reserved.