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) | ||||||||||
| single nucleotide variant | NM_001267550.2(TTN):c.75250C>T (p.Arg25084Ter) | TTN | Pathogenic/Likely pathogenic | 2 | 179435609 | 179435609 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA309315 |
| single nucleotide variant | NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter) | TTN | Pathogenic/Likely pathogenic | 2 | 179436521 | 179436521 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA309312 |
| single nucleotide variant | NM_001267550.2(TTN):c.73846C>T (p.Arg24616Ter) | TTN | Pathogenic/Likely pathogenic | 2 | 179437013 | 179437013 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA309309 |
| Deletion | NM_001267550.2(TTN):c.72848_72849del (p.Lys24283fs) | TTN | Pathogenic | 2 | 179438010 | 179438011 | CTT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA309430 |
| Indel | NM_001267550.2(TTN):c.71980_71986delinsTA (p.Ala23994_Glu23996delinsTer) | TTN | Pathogenic/Likely pathogenic | 2 | 179438873 | 179438879 | CATATGC | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA309429 |
| Deletion | NM_001267550.2(TTN):c.71639del (p.Ala23879_Leu23880insTer) | TTN | Pathogenic | 2 | 179439220 | 179439220 | TA | T | criteria provided, single submitter | ClinGen:CA309428 |
| single nucleotide variant | NM_001267550.2(TTN):c.71563G>T (p.Gly23855Ter) | TTN | Pathogenic/Likely pathogenic | 2 | 179439296 | 179439296 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA309495 |
| Deletion | NM_001267550.2(TTN):c.70832del (p.Ala23611fs) | TTN | Pathogenic | 2 | 179440027 | 179440027 | CG | C | criteria provided, single submitter | ClinGen:CA309424 |
| single nucleotide variant | NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter) | TTN | Pathogenic/Likely pathogenic | 2 | 179440697 | 179440697 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA309303 |
| single nucleotide variant | NM_001267550.2(TTN):c.69716-1G>T | TTN | Pathogenic | 2 | 179441144 | 179441144 | C | A | criteria provided, single submitter | ClinGen:CA309302 |
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