Knowledge base for genomic medicine in Japanese
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肥大型心筋症
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_001276345.2(TNNT2):c.321G>T (p.Lys107Asn) | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201334409 | 201334409 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA004322 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.382G>A (p.Glu128Lys) | TNNT2 | Likely pathogenic | 1 | 201334348 | 201334348 | C | T | criteria provided, single submitter | ClinGen:CA004396 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201333497 | 201333497 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA004443 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) | TNNT2 | Pathogenic | 1 | 201333493 | 201333493 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA004465 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro) | TNNT2 | Likely pathogenic | 1 | 201333493 | 201333493 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA004472 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.430C>G (p.Arg144Gly) | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201333485 | 201333485 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA004479 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201332476 | 201332476 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA004727 |
| single nucleotide variant | NM_001276345.2(TNNT2):c.851+1G>A | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201328750 | 201328750 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA005196,OMIM:191045.0003 |
| single nucleotide variant | NM_005159.5(ACTC1):c.553C>T (p.Arg185Trp) | ACTC1 | Likely pathogenic | 15 | 35084672 | 35084672 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA019824 |
| single nucleotide variant | NM_001267550.2(TTN):c.15496+1G>A | TTN | Pathogenic/Likely pathogenic | 2 | 179599054 | 179599054 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA138728 |
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