Knowledge base for genomic medicine in Japanese
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網膜色素変性症
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_000350.3(ABCA4):c.5584+6T>C | ABCA4 | Pathogenic | 1 | 94476812 | 94476812 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA227320 |
| single nucleotide variant | NM_000350.3(ABCA4):c.5657G>A (p.Gly1886Glu) | ABCA4 | Likely pathogenic | 1 | 94476413 | 94476413 | C | T | criteria provided, single submitter | ClinGen:CA227329,UniProtKB:P78363#VAR_008471 |
| single nucleotide variant | NM_000350.3(ABCA4):c.571-1G>T | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94564548 | 94564548 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA227335 |
| single nucleotide variant | NM_000350.3(ABCA4):c.5714+5G>A | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94476351 | 94476351 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA227338,OMIM:601691.0010,ClinVar:1048131 |
| single nucleotide variant | NM_000350.3(ABCA4):c.5761G>A (p.Val1921Met) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94474381 | 94474381 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA227341,UniProtKB:P78363#VAR_012601 |
| Deletion | NM_000350.3(ABCA4):c.5836-2del | ABCA4 | Pathogenic | 1 | 94473855 | 94473855 | CT | C | criteria provided, single submitter | ClinGen:CA227344 |
| single nucleotide variant | NM_000350.3(ABCA4):c.5914G>A (p.Gly1972Arg) | ABCA4 | Pathogenic | 1 | 94473281 | 94473281 | C | T | criteria provided, single submitter | ClinGen:CA227353 |
| Deletion | NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) | ABCA4 | Pathogenic | 1 | 94473278 | 94473278 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA227355 |
| single nucleotide variant | NM_000350.3(ABCA4):c.5923G>C (p.Gly1975Arg) | ABCA4 | Pathogenic | 1 | 94473272 | 94473272 | C | G | criteria provided, single submitter | ClinGen:CA227356,UniProtKB:P78363#VAR_012604 |
| single nucleotide variant | NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser) | ABCA4 | Pathogenic | 1 | 94473266 | 94473266 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA227357,UniProtKB:P78363#VAR_008477 |
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