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。
家族性高コレステロール血症
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_000527.5(LDLR):c.1031del (p.Phe344fs) | LDLR | Pathogenic | 19 | 11221417 | 11221417 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10585259,LDLR-LOVD, British Heart Foundation:LDLR_001331 |
| Duplication | NM_000527.5(LDLR):c.1034dup (p.Leu346fs) | LDLR | Pathogenic | 19 | 11221421 | 11221421 | C | CA | criteria provided, multiple submitters, no conflicts | ClinGen:CA10585260,LDLR-LOVD, British Heart Foundation:LDLR_001333 |
| Insertion | NM_000527.5(LDLR):c.1042_1043insA (p.Ala348fs) | LDLR | Pathogenic | 19 | 11221429 | 11221430 | G | GA | criteria provided, single submitter | LDLR-LOVD, British Heart Foundation:LDLR_001242,ClinGen:CA10585261 |
| Deletion | NM_000527.5(LDLR):c.1042del (p.Ala348fs) | LDLR | Pathogenic | 19 | 11221428 | 11221428 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10585262,LDLR-LOVD, British Heart Foundation:LDLR_001335 |
| single nucleotide variant | NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter) | LDLR | Pathogenic | 19 | 11221432 | 11221432 | C | T | reviewed by expert panel | ClinGen:CA031354,LDLR-LOVD, British Heart Foundation:LDLR_000964 |
| Deletion | NM_000527.5(LDLR):c.1045del (p.Gln349fs) | LDLR | Pathogenic/Likely pathogenic | 19 | 11221430 | 11221430 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10585263,LDLR-LOVD, British Heart Foundation:LDLR_000641 |
| Duplication | NM_000527.5(LDLR):c.1045dup (p.Gln349fs) | LDLR | Pathogenic | 19 | 11221432 | 11221432 | G | GC | criteria provided, single submitter | ClinGen:CA10585264,LDLR-LOVD, British Heart Foundation:LDLR_001336 |
| Deletion | NM_000527.5(LDLR):c.1046del (p.Gln349fs) | LDLR | Pathogenic | 19 | 11221433 | 11221433 | CA | C | criteria provided, single submitter | ClinGen:CA10585265,LDLR-LOVD, British Heart Foundation:LDLR_000447 |
| Duplication | NM_000527.5(LDLR):c.1055_1062dup (p.Ile355fs) | LDLR | Pathogenic | 19 | 11221440 | 11221447 | A | AGCGAAGAT | criteria provided, multiple submitters, no conflicts | ClinGen:CA10585266,LDLR-LOVD, British Heart Foundation:LDLR_000520 |
| single nucleotide variant | NM_000527.5(LDLR):c.1054T>A (p.Cys352Ser) | LDLR | Likely pathogenic | 19 | 11221441 | 11221441 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10585267,LDLR-LOVD, British Heart Foundation:LDLR_001338 |
Copyright © Japan Institute for Health Security. All rights reserved.