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) | ||||||||||
| Indel | NM_001005242.3(PKP2):c.951_983delinsAC (p.His318fs) | PKP2 | Likely pathogenic | 12 | 33030831 | 33030863 | CCCCCTGCGGCCGCCTGGCCGACAGTCAAGTGC | GT | criteria provided, single submitter | ClinGen:CA012570 |
| single nucleotide variant | NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter) | DSC2 | Pathogenic/Likely pathogenic | 18 | 28666635 | 28666635 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA022947 |
| Deletion | NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer) | DSC2 | Pathogenic/Likely pathogenic | 18 | 28673580 | 28673580 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA022981 |
| Duplication | NM_170707.4(LMNA):c.1112_1115dup (p.Glu372fs) | LMNA | Pathogenic/Likely pathogenic | 1 | 156105865 | 156105866 | C | CATGG | criteria provided, multiple submitters, no conflicts | ClinGen:CA261950 |
| single nucleotide variant | NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) | LMNA | Pathogenic/Likely pathogenic | 1 | 156105884 | 156105884 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA016641 |
| single nucleotide variant | NM_170707.4(LMNA):c.1146C>T (p.Gly382=) | LMNA | Pathogenic/Likely pathogenic | 1 | 156105901 | 156105901 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA016690 |
| Duplication | NM_170707.4(LMNA):c.1526dup (p.Thr510fs) | LMNA | Pathogenic | 1 | 156106935 | 156106936 | G | GC | criteria provided, multiple submitters, no conflicts | ClinGen:CA017401 |
| single nucleotide variant | NM_170707.4(LMNA):c.154C>G (p.Leu52Val) | LMNA | Likely pathogenic | 1 | 156084863 | 156084863 | C | G | criteria provided, single submitter | ClinGen:CA017415 |
| single nucleotide variant | NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) | LMNA | Pathogenic/Likely pathogenic | 1 | 156107457 | 156107457 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA017615,UniProtKB:P02545#VAR_039786 |
| Duplication | NM_170707.4(LMNA):c.348dup (p.Lys117fs) | LMNA | Pathogenic | 1 | 156085056 | 156085057 | T | TG | criteria provided, multiple submitters, no conflicts | ClinGen:CA017938 |
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