Knowledge base for genomic medicine in Japanese
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脊髄性筋萎縮症
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_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) | IGHMBP2 | Pathogenic/Likely pathogenic | 11 | 68701332 | 68701332 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA6153662 |
| single nucleotide variant | NM_002180.3(IGHMBP2):c.1193C>A (p.Ala398Glu) | IGHMBP2 | Likely pathogenic | 11 | 68696783 | 68696783 | C | A | criteria provided, single submitter | ClinGen:CA10584086 |
| Deletion | NM_002180.3(IGHMBP2):c.1346del (p.Met449fs) | IGHMBP2 | Pathogenic | 11 | 68700877 | 68700877 | AT | A | criteria provided, single submitter | ClinGen:CA10584087 |
| single nucleotide variant | NM_002180.3(IGHMBP2):c.1060+2T>C | IGHMBP2 | Pathogenic | 11 | 68685353 | 68685353 | T | C | criteria provided, single submitter | ClinGen:CA10584388 |
| single nucleotide variant | NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro) | IGHMBP2 | Pathogenic | 11 | 68696672 | 68696672 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA6153517,UniProtKB:P38935#VAR_022326 |
| single nucleotide variant | NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu) | IGHMBP2 | Pathogenic/Likely pathogenic | 11 | 68702871 | 68702871 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10584390 |
| Indel | NM_002180.3(IGHMBP2):c.2197_2203delinsCA (p.Ile733fs) | IGHMBP2 | Pathogenic | 11 | 68704145 | 68704151 | ATAGTGG | CA | criteria provided, single submitter | ClinGen:CA10604071 |
| single nucleotide variant | NM_002180.3(IGHMBP2):c.2560C>T (p.Gln854Ter) | IGHMBP2 | Pathogenic | 11 | 68704508 | 68704508 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA6153941 |
| single nucleotide variant | NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser) | IGHMBP2 | Likely pathogenic | 11 | 68685351 | 68685351 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10605930 |
| Deletion | NM_002180.3(IGHMBP2):c.2598_2599del (p.Lys868fs) | IGHMBP2 | Pathogenic | 11 | 68704545 | 68704546 | AAG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10605931 |
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