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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_001005242.3(PKP2):c.2377del (p.Ser793fs) | PKP2 | Pathogenic/Likely pathogenic | 12 | 32945646 | 32945646 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA012110 |
| Deletion | NM_004415.4(DSP):c.7248del (p.Phe2416fs) | DSP | Pathogenic | 6 | 7584738 | 7584738 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA007160,OMIM:125647.0019 |
| single nucleotide variant | NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu) | RYR2 | Likely pathogenic | 1 | 237656273 | 237656273 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA008618 |
| single nucleotide variant | NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg) | RYR2 | Pathogenic | 1 | 237863752 | 237863752 | G | A | criteria provided, single submitter | ClinGen:CA011170 |
| single nucleotide variant | NM_001035.3(RYR2):c.12325A>G (p.Met4109Val) | RYR2 | Likely pathogenic | 1 | 237947337 | 237947337 | A | G | criteria provided, single submitter | ClinGen:CA007471 |
| single nucleotide variant | NM_001035.3(RYR2):c.14565T>G (p.Ile4855Met) | RYR2 | Likely pathogenic | 1 | 237982467 | 237982467 | T | G | criteria provided, single submitter | ClinGen:CA008301 |
| single nucleotide variant | NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) | DSP | Pathogenic/Likely pathogenic | 6 | 7577219 | 7577219 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA005630 |
| Deletion | NM_004415.4(DSP):c.6310del (p.Thr2104fs) | DSP | Likely pathogenic | 6 | 7583805 | 7583805 | GA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA006845,OMIM:125647.0027 |
| Deletion | NM_004415.4(DSP):c.6393del (p.Gly2133fs) | DSP | Likely pathogenic | 6 | 7583888 | 7583888 | CA | C | criteria provided, single submitter | ClinGen:CA006906 |
| Indel | NM_001005242.3(PKP2):c.2311_2316delinsGAAA (p.Asn771fs) | PKP2 | Likely pathogenic | 12 | 32949084 | 32949089 | GGTGTT | TTTC | criteria provided, single submitter | ClinGen:CA012023 |
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