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_170707.4(LMNA):c.618C>A (p.Phe206Leu) | LMNA | Likely pathogenic | 1 | 156104298 | 156104298 | C | A | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_170707.4(LMNA):c.1262_1263del (p.Leu421fs) | LMNA | Likely pathogenic | 1 | 156106109 | 156106110 | CTG | C | criteria provided, single submitter | - |
| Deletion | NM_170707.4(LMNA):c.1579del (p.Arg527fs) | LMNA | Likely pathogenic | 1 | 156106994 | 156106994 | GC | G | criteria provided, single submitter | - |
| Duplication | NM_001267550.2(TTN):c.105186dup (p.Ala35063fs) | TTN | Likely pathogenic | 2 | 179396155 | 179396156 | C | CA | criteria provided, single submitter | - |
| single nucleotide variant | NM_001267550.2(TTN):c.101943C>G (p.Tyr33981Ter) | TTN | Likely pathogenic | 2 | 179399399 | 179399399 | G | C | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_001267550.2(TTN):c.100411_100412del (p.Asn33471fs) | TTN | Likely pathogenic | 2 | 179401062 | 179401063 | ATT | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_001267550.2(TTN):c.94667G>A (p.Trp31556Ter) | TTN | Likely pathogenic | 2 | 179411488 | 179411488 | C | T | criteria provided, single submitter | - |
| Deletion | NM_001267550.2(TTN):c.90562_90566del (p.Thr30188fs) | TTN | Likely pathogenic | 2 | 179417061 | 179417065 | CAAAGT | C | criteria provided, single submitter | - |
| single nucleotide variant | NM_001267550.2(TTN):c.90544A>T (p.Lys30182Ter) | TTN | Likely pathogenic | 2 | 179417083 | 179417083 | T | A | criteria provided, single submitter | - |
| Deletion | NM_001267550.2(TTN):c.89553del (p.Ala29853fs) | TTN | Likely pathogenic | 2 | 179418074 | 179418074 | TG | T | criteria provided, multiple submitters, no conflicts | - |
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