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) | ||||||||||
| Deletion | NM_001267550.2(TTN):c.51916_51922del (p.Gly17306fs) | TTN | Likely pathogenic | 2 | 179474115 | 179474121 | ACTTCACC | A | criteria provided, single submitter | ClinGen:CA658795989 |
| single nucleotide variant | NM_001267550.2(TTN):c.9654C>G (p.Tyr3218Ter) | TTN | Likely pathogenic | 2 | 179631157 | 179631157 | G | C | criteria provided, single submitter | ClinGen:CA349674681 |
| Deletion | NM_001267550.2(TTN):c.70128del (p.Thr23377fs) | TTN | Likely pathogenic | 2 | 179440731 | 179440731 | TC | T | criteria provided, single submitter | ClinGen:CA658796006 |
| single nucleotide variant | NM_001458.5(FLNC):c.5754T>A (p.Tyr1918Ter) | FLNC | Pathogenic/Likely pathogenic | 7 | 128491594 | 128491594 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA369208313 |
| Deletion | NM_000256.3(MYBPC3):c.1504del (p.Arg502fs) | MYBPC3 | Pathogenic/Likely pathogenic | 11 | 47364249 | 47364249 | CG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658797634 |
| Duplication | NM_001267550.2(TTN):c.100127_100151dup (p.Ile33385fs) | TTN | Likely pathogenic | 2 | 179401684 | 179401685 | C | CACAACTGAGGACACTTCTAGAGGGT | criteria provided, multiple submitters, no conflicts | ClinGen:CA658795991 |
| Duplication | NM_001267550.2(TTN):c.75665dup (p.Cys25222fs) | TTN | Likely pathogenic | 2 | 179435193 | 179435194 | G | GC | criteria provided, single submitter | ClinGen:CA658796029 |
| Duplication | NM_001267550.2(TTN):c.72826_72829dup (p.Leu24277fs) | TTN | Pathogenic | 2 | 179438029 | 179438030 | A | AGAGT | criteria provided, single submitter | ClinGen:CA658796036 |
| Deletion | NM_001267550.2(TTN):c.43370del (p.Lys14457fs) | TTN | Likely pathogenic | 2 | 179497363 | 179497363 | CT | C | criteria provided, single submitter | ClinGen:CA658796016 |
| Indel | NM_000256.3(MYBPC3):c.2414-2_2414-1delinsTCCA | MYBPC3 | Likely pathogenic | 11 | 47359131 | 47359132 | CT | TGGA | criteria provided, single submitter | ClinGen:CA658797625 |
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