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.4049T>C (p.Leu1350Pro) | ABCA4 | Likely pathogenic | 1 | 94497413 | 94497413 | A | G | criteria provided, single submitter | ClinGen:CA16617204 |
| single nucleotide variant | NM_000350.3(ABCA4):c.3389T>C (p.Ile1130Thr) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94506898 | 94506898 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617206 |
| single nucleotide variant | NM_000350.3(ABCA4):c.3051-16T>A | ABCA4 | Likely pathogenic | 1 | 94509047 | 94509047 | A | T | criteria provided, single submitter | ClinGen:CA16617208 |
| single nucleotide variant | NM_000350.3(ABCA4):c.2249T>C (p.Leu750Pro) | ABCA4 | Likely pathogenic | 1 | 94522290 | 94522290 | A | G | criteria provided, single submitter | ClinGen:CA16617209 |
| single nucleotide variant | NM_000350.3(ABCA4):c.2182A>G (p.Ser728Gly) | ABCA4 | Likely pathogenic | 1 | 94522357 | 94522357 | T | C | criteria provided, single submitter | ClinGen:CA16617210 |
| single nucleotide variant | NM_000350.3(ABCA4):c.1958G>A (p.Arg653His) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94526295 | 94526295 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA958377 |
| single nucleotide variant | NM_000350.3(ABCA4):c.478G>T (p.Glu160Ter) | ABCA4 | Pathogenic | 1 | 94568663 | 94568663 | C | A | criteria provided, single submitter | ClinGen:CA16617212 |
| single nucleotide variant | NM_000350.3(ABCA4):c.160+5G>C | ABCA4 | Likely pathogenic | 1 | 94578524 | 94578524 | C | G | criteria provided, single submitter | ClinGen:CA16617213 |
| Duplication | NM_015662.3(IFT172):c.4290dup (p.Ile1431fs) | IFT172 | Likely pathogenic | 2 | 27672181 | 27672182 | T | TG | criteria provided, single submitter | ClinGen:CA16617526 |
| Deletion | NM_000539.3(RHO):c.946del (p.Cys316fs) | RHO | Likely pathogenic | 3 | 129252460 | 129252460 | CT | C | criteria provided, single submitter | ClinGen:CA16617826 |
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