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_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter) | TTN | Likely pathogenic | 2 | 179435313 | 179435313 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA349622093 |
| single nucleotide variant | NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter) | TTN | Pathogenic/Likely pathogenic | 2 | 179451927 | 179451927 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA349446699 |
| Duplication | NM_001267550.2(TTN):c.40626dup (p.Pro13543fs) | TTN | Likely pathogenic | 2 | 179505974 | 179505975 | G | GT | criteria provided, single submitter | ClinGen:CA658657167 |
| single nucleotide variant | NM_000335.5(SCN5A):c.1120T>G (p.Trp374Gly) | SCN5A | Likely pathogenic | 3 | 38648180 | 38648180 | A | C | criteria provided, single submitter | ClinGen:CA014359,UniProtKB:Q14524#VAR_074347 |
| single nucleotide variant | NM_000335.5(SCN5A):c.1127G>A (p.Arg376His) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38648173 | 38648173 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA014389,UniProtKB:Q14524#VAR_055169 |
| single nucleotide variant | NM_001267550.2(TTN):c.106375-2A>G | TTN | Pathogenic/Likely pathogenic | 2 | 179394845 | 179394845 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA349405662 |
| single nucleotide variant | NM_001267550.2(TTN):c.634C>T (p.Gln212Ter) | TTN | Likely pathogenic | 2 | 179664587 | 179664587 | G | A | criteria provided, single submitter | ClinGen:CA349524918 |
| single nucleotide variant | NM_000021.4(PSEN1):c.403A>T (p.Asn135Tyr) | PSEN1 | Likely pathogenic | 14 | 73640338 | 73640338 | A | T | criteria provided, single submitter | ClinGen:CA390304891 |
| single nucleotide variant | NM_000021.4(PSEN1):c.714C>G (p.Ile238Met) | PSEN1 | Likely pathogenic | 14 | 73659517 | 73659517 | C | G | criteria provided, single submitter | ClinGen:CA390299722 |
| Deletion | NM_004006.3(DMD):c.10121del (p.Lys3374fs) | DMD | Pathogenic | X | 31196888 | 31196888 | CT | C | criteria provided, single submitter | ClinGen:CA658658952 |
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