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_000440.3(PDE6A):c.2183G>A (p.Trp728Ter) | PDE6A | Pathogenic | 5 | 149247674 | 149247674 | C | T | criteria provided, single submitter | - |
| Deletion | NM_001142800.2(EYS):c.8314del (p.Thr2772fs) | EYS | Pathogenic | 6 | 64431613 | 64431613 | GT | G | criteria provided, single submitter | - |
| Indel | NM_206933.4(USH2A):c.4902_4908delinsTC (p.Asn1635fs) | USH2A | Pathogenic/Likely pathogenic | 1 | 216260140 | 216260146 | ACCATTC | GA | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_201548.5(CERKL):c.239-1G>A | CERKL | Pathogenic/Likely pathogenic | 2 | 182468807 | 182468807 | C | T | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_006269.2(RP1):c.3734del (p.Cys1245fs) | RP1 | Pathogenic | 8 | 55540176 | 55540176 | TG | T | criteria provided, single submitter | - |
| Duplication | NM_000329.3(RPE65):c.1067dup (p.Asn356fs) | RPE65 | Pathogenic | 1 | 68903930 | 68903931 | A | AT | criteria provided, multiple submitters, no conflicts | ClinVar:982544 |
| single nucleotide variant | NM_001379270.1(CNGA1):c.1617C>G (p.Tyr539Ter) | CNGA1 | Likely pathogenic | 4 | 47938882 | 47938882 | G | C | criteria provided, single submitter | - |
| single nucleotide variant | NM_006017.3(PROM1):c.1077+1G>C | PROM1 | Likely pathogenic | 4 | 16017788 | 16017788 | C | G | criteria provided, single submitter | - |
| Deletion | NM_001142800.2(EYS):c.8830del (p.Val2944fs) | EYS | Pathogenic/Likely pathogenic | 6 | 64431097 | 64431097 | AC | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000188.3(HK1):c.1252A>G (p.Lys418Glu) | HK1 | Likely pathogenic | 10 | 71139838 | 71139838 | A | G | criteria provided, multiple submitters, no conflicts | OMIM:142600.0007 |
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