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_201253.3(CRB1):c.3331G>T (p.Glu1111Ter) | CRB1 | Pathogenic | 1 | 197404324 | 197404324 | G | T | criteria provided, single submitter | ClinGen:CA228038 |
| single nucleotide variant | NM_201253.3(CRB1):c.3879G>A (p.Trp1293Ter) | CRB1 | Pathogenic | 1 | 197411296 | 197411296 | G | A | criteria provided, single submitter | ClinGen:CA228044 |
| Deletion | NM_201253.3(CRB1):c.613_619del (p.Ile205fs) | CRB1 | Pathogenic | 1 | 197298091 | 197298097 | TGAAATAG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA228053 |
| single nucleotide variant | NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter) | PROM1 | Pathogenic | 4 | 16002140 | 16002140 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA201058 |
| single nucleotide variant | NM_206933.4(USH2A):c.14792-2A>G | USH2A | Pathogenic/Likely pathogenic | 1 | 215814078 | 215814078 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA228956 |
| single nucleotide variant | NM_000541.5(SAG):c.523C>T (p.Arg175Ter) | SAG | Pathogenic | 2 | 234237134 | 234237134 | C | T | criteria provided, single submitter | ClinGen:CA150740,OMIM:181031.0006 |
| single nucleotide variant | NM_018474.6(KIZ):c.226C>T (p.Arg76Ter) | KIZ | Pathogenic | 20 | 21117104 | 21117104 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA151548,OMIM:615757.0001 |
| single nucleotide variant | NM_018474.6(KIZ):c.52G>T (p.Glu18Ter) | KIZ | Pathogenic | 20 | 21106808 | 21106808 | G | T | criteria provided, single submitter | ClinGen:CA151550,OMIM:615757.0002 |
| Deletion | NM_018474.6(KIZ):c.119_122del (p.Lys40fs) | KIZ | Pathogenic | 20 | 21112767 | 21112770 | AAACT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA151553,OMIM:615757.0003 |
| single nucleotide variant | NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) | USH2A | Pathogenic | 1 | 216373373 | 216373373 | C | T | reviewed by expert panel | ClinGen:CA269917 |
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