Knowledge base for genomic medicine in Japanese
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不整脈原性右室心筋症
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_004415.4(DSP):c.3961C>T (p.Gln1321Ter) | DSP | Pathogenic | 6 | 7580384 | 7580384 | C | T | criteria provided, single submitter | ClinGen:CA004306 |
| single nucleotide variant | NM_004415.4(DSP):c.4054A>T (p.Arg1352Ter) | DSP | Pathogenic | 6 | 7580477 | 7580477 | A | T | criteria provided, single submitter | ClinGen:CA004352 |
| single nucleotide variant | NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) | DSP | Pathogenic/Likely pathogenic | 6 | 7580621 | 7580621 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA004412 |
| single nucleotide variant | NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) | DSP | Pathogenic | 6 | 7581635 | 7581635 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA004601 |
| Indel | NM_004415.4(DSP):c.5550_5557delinsGTG (p.Gln1851fs) | DSP | Pathogenic | 6 | 7583045 | 7583052 | ACAGCGCC | GTG | criteria provided, single submitter | - |
| Deletion | NM_004415.4(DSP):c.6273del (p.Ala2092fs) | DSP | Pathogenic/Likely pathogenic | 6 | 7583764 | 7583764 | GA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA006802 |
| Duplication | NM_004415.4(DSP):c.6398dup (p.Val2134fs) | DSP | Pathogenic | 6 | 7583888 | 7583889 | A | AG | criteria provided, multiple submitters, no conflicts | ClinGen:CA303945 |
| single nucleotide variant | NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter) | DSP | Pathogenic/Likely pathogenic | 6 | 7583973 | 7583973 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) | DSP | Pathogenic/Likely pathogenic | 6 | 7583991 | 7583991 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA006958 |
| Insertion | NM_004415.4(DSP):c.6510_6511insCT (p.Asn2171fs) | DSP | Pathogenic | 6 | 7584005 | 7584006 | A | ACT | criteria provided, multiple submitters, no conflicts | ClinGen:CA006967 |
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