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_001035.3(RYR2):c.7385C>T (p.Pro2462Leu) | RYR2 | Likely pathogenic | 1 | 237811786 | 237811786 | C | T | criteria provided, single submitter | ClinGen:CA010694 |
| single nucleotide variant | NM_001035.3(RYR2):c.11836G>A (p.Gly3946Ser) | RYR2 | Pathogenic | 1 | 237942026 | 237942026 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA007186,UniProtKB:Q92736#VAR_044098 |
| single nucleotide variant | NM_001035.3(RYR2):c.11934G>A (p.Met3978Ile) | RYR2 | Pathogenic/Likely pathogenic | 1 | 237944918 | 237944918 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA007229 |
| single nucleotide variant | NM_001035.3(RYR2):c.11959G>A (p.Glu3987Lys) | RYR2 | Likely pathogenic | 1 | 237944943 | 237944943 | G | A | criteria provided, single submitter | ClinGen:CA007253 |
| single nucleotide variant | NM_001035.3(RYR2):c.11965A>G (p.Asn3989Asp) | RYR2 | Pathogenic/Likely pathogenic | 1 | 237946977 | 237946977 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA007278 |
| single nucleotide variant | NM_001035.3(RYR2):c.11995A>G (p.Met3999Val) | RYR2 | Likely pathogenic | 1 | 237947007 | 237947007 | A | G | criteria provided, single submitter | ClinGen:CA007307 |
| single nucleotide variant | NM_001035.3(RYR2):c.11995A>T (p.Met3999Leu) | RYR2 | Pathogenic | 1 | 237947007 | 237947007 | A | T | criteria provided, single submitter | ClinGen:CA007316 |
| single nucleotide variant | NM_001035.3(RYR2):c.12268C>T (p.Pro4090Ser) | RYR2 | Likely pathogenic | 1 | 237947280 | 237947280 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA007392 |
| single nucleotide variant | NM_001035.3(RYR2):c.12272C>T (p.Ala4091Val) | RYR2 | Pathogenic | 1 | 237947284 | 237947284 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA007418 |
| single nucleotide variant | NM_001035.3(RYR2):c.12301C>T (p.Leu4101Phe) | RYR2 | Likely pathogenic | 1 | 237947313 | 237947313 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA007454 |
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