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) | ||||||||||
| Deletion | NM_001943.5(DSG2):c.307_308del (p.Val103fs) | DSG2 | Likely pathogenic | 18 | 29100855 | 29100856 | TTG | T | criteria provided, single submitter | ClinGen:CA658658730 |
| single nucleotide variant | NM_001943.5(DSG2):c.1027G>T (p.Glu343Ter) | DSG2 | Pathogenic/Likely pathogenic | 18 | 29110962 | 29110962 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA402137937 |
| single nucleotide variant | NM_170707.4(LMNA):c.94A>G (p.Lys32Glu) | LMNA | Pathogenic/Likely pathogenic | 1 | 156084803 | 156084803 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA342807424 |
| single nucleotide variant | NM_170707.4(LMNA):c.592C>T (p.Gln198Ter) | LMNA | Pathogenic | 1 | 156104272 | 156104272 | C | T | criteria provided, single submitter | ClinGen:CA342816989 |
| single nucleotide variant | NM_170707.4(LMNA):c.1558T>C (p.Trp520Arg) | LMNA | Pathogenic | 1 | 156106973 | 156106973 | T | C | criteria provided, single submitter | ClinGen:CA342823343 |
| single nucleotide variant | NM_170707.4(LMNA):c.877C>T (p.Gln293Ter) | LMNA | Pathogenic | 1 | 156105044 | 156105044 | C | T | criteria provided, single submitter | ClinGen:CA342817717 |
| Deletion | NM_170707.4(LMNA):c.1436del (p.Leu479fs) | LMNA | Pathogenic/Likely pathogenic | 1 | 156106767 | 156106767 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656966 |
| single nucleotide variant | NM_170707.4(LMNA):c.936+1G>A | LMNA | Pathogenic | 1 | 156105104 | 156105104 | G | A | criteria provided, single submitter | ClinGen:CA342818117 |
| single nucleotide variant | NM_001035.3(RYR2):c.1198G>A (p.Asp400Asn) | RYR2 | Likely pathogenic | 1 | 237608728 | 237608728 | G | A | criteria provided, single submitter | ClinGen:CA345377490 |
| single nucleotide variant | NM_001035.3(RYR2):c.515G>A (p.Gly172Glu) | RYR2 | Likely pathogenic | 1 | 237540674 | 237540674 | G | A | criteria provided, single submitter | ClinGen:CA345375574 |
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