Knowledge base for genomic medicine in Japanese
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特発性拡張型心筋症
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_000256.3(MYBPC3):c.3294G>A (p.Trp1098Ter) | MYBPC3 | Pathogenic | 11 | 47354781 | 47354781 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA053346 |
| Insertion | NM_000256.3(MYBPC3):c.3228_3229insT (p.Ala1077fs) | MYBPC3 | Pathogenic | 11 | 47354846 | 47354847 | C | CA | criteria provided, single submitter | ClinGen:CA658797620 |
| Insertion | NM_000256.3(MYBPC3):c.2604_2605insA (p.Pro869fs) | MYBPC3 | Pathogenic | 11 | 47357560 | 47357561 | G | GT | criteria provided, single submitter | ClinGen:CA658797622 |
| Deletion | NM_000256.3(MYBPC3):c.2451del (p.Trp818fs) | MYBPC3 | Pathogenic | 11 | 47359093 | 47359093 | AC | A | criteria provided, single submitter | ClinGen:CA658797624 |
| Deletion | NM_000256.3(MYBPC3):c.2310del (p.Asp770fs) | MYBPC3 | Pathogenic | 11 | 47359344 | 47359344 | CG | C | criteria provided, single submitter | ClinGen:CA658797627 |
| Duplication | NM_000256.3(MYBPC3):c.2258dup (p.Lys754fs) | MYBPC3 | Pathogenic | 11 | 47360120 | 47360121 | C | CA | criteria provided, multiple submitters, no conflicts | ClinGen:CA5975367 |
| single nucleotide variant | NM_000256.3(MYBPC3):c.1927G>T (p.Glu643Ter) | MYBPC3 | Pathogenic | 11 | 47362554 | 47362554 | C | A | criteria provided, single submitter | ClinGen:CA380323208 |
| Indel | NM_000256.3(MYBPC3):c.1827_1846delinsTACAGC (p.Asp610fs) | MYBPC3 | Pathogenic | 11 | 47362740 | 47362759 | AGCTGTAGTCAGCCTCGTCG | GCTGTA | criteria provided, single submitter | ClinGen:CA658797629 |
| Deletion | NM_000256.3(MYBPC3):c.1570_1594del (p.His524fs) | MYBPC3 | Pathogenic | 11 | 47364159 | 47364183 | CCCCCGCTAGTGCACAGTGCATAGTG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658797633 |
| Deletion | NM_000256.3(MYBPC3):c.1483del (p.Arg495fs) | MYBPC3 | Pathogenic | 11 | 47364270 | 47364270 | CG | C | criteria provided, single submitter | ClinGen:CA658797635 |
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