Knowledge base for genomic medicine in Japanese
キーワードを入力してMGenReviewsサイト内を検索できます。
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) | ||||||||||
| Deletion | NM_003611.3(OFD1):c.710del (p.Lys237fs) | OFD1 | Pathogenic | X | 13764946 | 13764946 | CA | C | criteria provided, single submitter | ClinGen:CA344036 |
| Duplication | NM_003611.3(OFD1):c.710dup (p.Tyr238fs) | OFD1 | Pathogenic | X | 13764945 | 13764946 | C | CA | criteria provided, multiple submitters, no conflicts | ClinGen:CA344037 |
| Deletion | NM_003611.3(OFD1):c.839_840del (p.Lys280fs) | OFD1 | Pathogenic | X | 13767554 | 13767555 | CAA | C | criteria provided, single submitter | - |
| single nucleotide variant | NM_000541.5(SAG):c.577C>T (p.Arg193Ter) | SAG | Pathogenic | 2 | 234237188 | 234237188 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA130895,OMIM:181031.0002 |
| single nucleotide variant | NM_000541.5(SAG):c.874C>T (p.Arg292Ter) | SAG | Pathogenic | 2 | 234243675 | 234243675 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA130897,OMIM:181031.0004 |
| single nucleotide variant | NM_000541.5(SAG):c.916G>T (p.Glu306Ter) | SAG | Pathogenic | 2 | 234243717 | 234243717 | G | T | criteria provided, single submitter | ClinGen:CA130899,OMIM:181031.0005 |
| single nucleotide variant | NM_174878.3(CLRN1):c.127G>A (p.Gly43Arg) | CLRN1 | Pathogenic/Likely pathogenic | 3 | 150690369 | 150690369 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA142675 |
| Deletion | NM_174878.3(CLRN1):c.301_305del (p.Val101fs) | CLRN1 | Pathogenic/Likely pathogenic | 3 | 150659497 | 150659501 | AATGAC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA142687 |
| single nucleotide variant | NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) | CLRN1 | Pathogenic/Likely pathogenic | 3 | 150659434 | 150659434 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA142688 |
| Deletion | NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs) | USH2A | Pathogenic | 1 | 215960208 | 215960209 | CTT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA262053 |
Copyright © Japan Institute for Health Security. All rights reserved.