Knowledge base for genomic medicine in Japanese
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筋原線維性ミオパチー
小児・神経疾患
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) | ||||||||||
| Deletion | NM_001267550.2(TTN):c.60902del (p.Ser20301fs) | TTN | Likely pathogenic | 2 | 179455550 | 179455550 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658657141 |
| Deletion | NM_001267550.2(TTN):c.57849del (p.Val19284fs) | TTN | Likely pathogenic | 2 | 179459372 | 179459372 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA1992974 |
| Deletion | NM_001267550.2(TTN):c.99588_99595del (p.Phe33196fs) | TTN | Likely pathogenic | 2 | 179402339 | 179402346 | CCAGGATGG | C | criteria provided, single submitter | ClinGen:CA658657126 |
| Deletion | NM_001267550.2(TTN):c.97395del (p.Glu32466fs) | TTN | Likely pathogenic | 2 | 179407088 | 179407088 | CG | C | criteria provided, single submitter | ClinGen:CA658657128 |
| single nucleotide variant | NM_001267550.2(TTN):c.86016G>A (p.Trp28672Ter) | TTN | Likely pathogenic | 2 | 179424843 | 179424843 | C | T | criteria provided, single submitter | ClinGen:CA349547000 |
| Indel | NM_001267550.2(TTN):c.96233_96236delinsCCT (p.Tyr32078fs) | TTN | Likely pathogenic | 2 | 179408635 | 179408638 | TCGT | AGG | criteria provided, multiple submitters, no conflicts | ClinGen:CA658657129 |
| Deletion | NM_001267550.2(TTN):c.95735del (p.Pro31912fs) | TTN | Likely pathogenic | 2 | 179409221 | 179409221 | TG | T | criteria provided, single submitter | ClinGen:CA658657133 |
| single nucleotide variant | NM_001267550.2(TTN):c.93541G>T (p.Glu31181Ter) | TTN | Likely pathogenic | 2 | 179412812 | 179412812 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA349482402 |
| single nucleotide variant | NM_001267550.2(TTN):c.77326G>T (p.Glu25776Ter) | TTN | Likely pathogenic | 2 | 179433533 | 179433533 | C | A | criteria provided, single submitter | ClinGen:CA349611184 |
| single nucleotide variant | NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter) | TTN | Pathogenic/Likely pathogenic | 2 | 179398819 | 179398819 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA1985742 |
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