Knowledge base for genomic medicine in Japanese
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複合カルボキシラーゼ欠損症
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_001352514.2(HLCS):c.2065C>T (p.Gln689Ter) | HLCS | Pathogenic | 21 | 38137369 | 38137369 | G | A | criteria provided, single submitter | ClinGen:CA278518 |
| single nucleotide variant | NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) | BTD | Pathogenic/Likely pathogenic | 3 | 15686975 | 15686975 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA312375 |
| single nucleotide variant | NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) | HLCS | Pathogenic/Likely pathogenic | 21 | 38128859 | 38128859 | G | A | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_001352514.2(HLCS):c.2333del (p.Pro777_Leu778insTer) | HLCS | Pathogenic | 21 | 38128960 | 38128960 | TA | T | criteria provided, single submitter | ClinGen:CA312632 |
| Deletion | NM_001352514.2(HLCS):c.1223del (p.Gly408fs) | HLCS | Pathogenic | 21 | 38308963 | 38308963 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA312635,OMIM:609018.0001 |
| single nucleotide variant | NM_001352514.2(HLCS):c.664C>T (p.Gln222Ter) | HLCS | Pathogenic | 21 | 38309522 | 38309522 | G | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_001352514.2(HLCS):c.2446C>T (p.His816Tyr) | HLCS | Pathogenic | 21 | 38128847 | 38128847 | G | A | criteria provided, single submitter | ClinGen:CA10581253 |
| Duplication | NM_001370658.1(BTD):c.1350dup (p.Cys451fs) | BTD | Pathogenic | 3 | 15686771 | 15686772 | A | AC | criteria provided, multiple submitters, no conflicts | ClinGen:CA10602892 |
| single nucleotide variant | NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala) | HLCS | Likely pathogenic | 21 | 38309023 | 38309023 | C | G | criteria provided, single submitter | ClinGen:CA10654770 |
| single nucleotide variant | NM_001370658.1(BTD):c.-18A>T | BTD | Likely pathogenic | 3 | 15643400 | 15643400 | A | T | criteria provided, single submitter | ClinGen:CA16040904 |
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