Knowledge base for genomic medicine in Japanese
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先天性筋無力症候群
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_000080.4(CHRNE):c.992G>A (p.Arg331Gln) | CHRNE | Pathogenic/Likely pathogenic | 17 | 4802803 | 4802803 | C | T | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_000080.4(CHRNE):c.684_687del (p.Asp229fs) | CHRNE | Pathogenic/Likely pathogenic | 17 | 4804400 | 4804403 | CGTCA | C | criteria provided, multiple submitters, no conflicts | - |
| Indel | NM_000080.4(CHRNE):c.445_458delinsA (p.Ala149fs) | CHRNE | Pathogenic | 17 | 4805269 | 4805282 | GTGACCTCCACTGC | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_000080.4(CHRNE):c.361G>T (p.Gly121Ter) | CHRNE | Pathogenic | 17 | 4805366 | 4805366 | C | A | criteria provided, single submitter | - |
| Duplication | NM_000080.4(CHRNE):c.115dup (p.Ser39fs) | CHRNE | Pathogenic | 17 | 4805989 | 4805990 | C | CT | criteria provided, single submitter | - |
| single nucleotide variant | NM_000334.4(SCN4A):c.4388G>A (p.Arg1463His) | SCN4A | Pathogenic | 17 | 62019254 | 62019254 | C | T | criteria provided, single submitter | - |
| single nucleotide variant | NM_000334.4(SCN4A):c.4387C>A (p.Arg1463Ser) | SCN4A | Likely pathogenic | 17 | 62019255 | 62019255 | G | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000334.4(SCN4A):c.4307T>C (p.Leu1436Pro) | SCN4A | Pathogenic | 17 | 62019335 | 62019335 | A | G | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_000334.4(SCN4A):c.2919del (p.Glu974fs) | SCN4A | Pathogenic | 17 | 62026823 | 62026823 | CG | C | criteria provided, single submitter | - |
| single nucleotide variant | NM_000334.4(SCN4A):c.808C>A (p.Gln270Lys) | SCN4A | Pathogenic | 17 | 62045611 | 62045611 | G | T | criteria provided, single submitter | - |
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