Knowledge base for genomic medicine in Japanese
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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_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) | TTN | Pathogenic/Likely pathogenic | 2 | 179444429 | 179444429 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA346762 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter) | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201328344 | 201328344 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA005319 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.851+1G>C | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201328750 | 201328750 | C | G | criteria provided, single submitter | ClinGen:CA005203 |
| Duplication | NM_001276345.2(TNNT2):c.844dup (p.Gln282fs) | TNNT2 | Pathogenic | 1 | 201328757 | 201328758 | T | TG | criteria provided, single submitter | ClinGen:CA297460 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.526A>G (p.Arg176Gly) | TNNT2 | Likely pathogenic | 1 | 201332498 | 201332498 | T | C | criteria provided, single submitter | ClinGen:CA004675 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.307A>C (p.Lys103Gln) | TNNT2 | Likely pathogenic | 1 | 201334423 | 201334423 | T | G | criteria provided, single submitter | - |
| single nucleotide variant | NM_001276345.2(TNNT2):c.269C>T (p.Pro90Leu) | TNNT2 | Pathogenic | 1 | 201334763 | 201334763 | G | A | criteria provided, single submitter | ClinGen:CA004176 |
| single nucleotide variant | NM_002880.4(RAF1):c.785A>T (p.Asn262Ile) | RAF1 | Likely pathogenic | 3 | 12645684 | 12645684 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA297151 |
| single nucleotide variant | NM_003280.3(TNNC1):c.290T>A (p.Leu97Gln) | TNNC1 | Likely pathogenic | 3 | 52485787 | 52485787 | A | T | criteria provided, single submitter | ClinGen:CA297319 |
| single nucleotide variant | NM_003280.3(TNNC1):c.8A>T (p.Asp3Val) | TNNC1 | Likely pathogenic | 3 | 52488024 | 52488024 | T | A | criteria provided, single submitter | ClinGen:CA297337 |
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