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_170707.4(LMNA):c.91_93del (p.Glu31del) | LMNA | Pathogenic | 1 | 156084798 | 156084800 | CAGG | C | criteria provided, single submitter | ClinGen:CA277863 |
| single nucleotide variant | NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter) | LMNA | Pathogenic/Likely pathogenic | 1 | 156106075 | 156106075 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10602394 |
| Indel | NM_170707.4(LMNA):c.354_355delinsAG (p.Arg119Gly) | LMNA | Likely pathogenic | 1 | 156085063 | 156085064 | GC | AG | criteria provided, single submitter | ClinGen:CA351885 |
| single nucleotide variant | NM_004415.4(DSP):c.1140+2T>G | DSP | Likely pathogenic | 6 | 7567684 | 7567684 | T | G | criteria provided, single submitter | ClinGen:CA351818 |
| single nucleotide variant | NM_004415.4(DSP):c.4803G>A (p.Met1601Ile) | DSP | Likely pathogenic | 6 | 7581226 | 7581226 | G | A | criteria provided, single submitter | ClinGen:CA354006 |
| Deletion | NM_004415.4(DSP):c.5725del (p.Ile1909fs) | DSP | Likely pathogenic | 6 | 7583219 | 7583219 | GA | G | criteria provided, single submitter | ClinGen:CA351719 |
| single nucleotide variant | NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter) | DSP | Pathogenic/Likely pathogenic | 6 | 7583346 | 7583346 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA353961 |
| single nucleotide variant | NM_001005242.3(PKP2):c.1034+1G>A | PKP2 | Likely pathogenic | 12 | 33030779 | 33030779 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA354045 |
| single nucleotide variant | NM_170707.4(LMNA):c.82C>G (p.Arg28Gly) | LMNA | Likely pathogenic | 1 | 156084791 | 156084791 | C | G | criteria provided, single submitter | ClinGen:CA358140 |
| Deletion | NM_001035.2(RYR2):c.(?_169)_(273_?)del | RYR2 | Likely pathogenic | 1 | 237494178 | 237494282 | na | na | criteria provided, single submitter | - |
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