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。
エメリー・ドレイフス型筋ジストロフィー
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_170707.4(LMNA):c.83G>A (p.Arg28Gln) | LMNA | Pathogenic/Likely pathogenic | 1 | 156084792 | 156084792 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10605120 |
| Deletion | NM_182961.4(SYNE1):c.23071_23099del (p.Thr7691fs) | SYNE1 | Pathogenic | 6 | 152523005 | 152523033 | GAGAGACTGCGAAAGCTTCTTTTTGAAAGT | G | criteria provided, single submitter | ClinGen:CA10605778 |
| Indel | NM_170707.4(LMNA):c.65_66delinsT (p.Ser22fs) | LMNA | Pathogenic | 1 | 156084774 | 156084775 | CG | T | criteria provided, single submitter | ClinGen:CA10605892 |
| single nucleotide variant | NM_182961.4(SYNE1):c.12121C>T (p.Arg4041Ter) | SYNE1 | Pathogenic | 6 | 152665320 | 152665320 | G | A | criteria provided, single submitter | ClinGen:CA10606167 |
| Deletion | NM_182961.4(SYNE1):c.2154del (p.Thr719fs) | SYNE1 | Likely pathogenic | 6 | 152783969 | 152783969 | TA | T | criteria provided, single submitter | ClinGen:CA10606415 |
| Deletion | NM_000117.3(EMD):c.251_255del (p.Leu84fs) | EMD | Pathogenic | X | 153608362 | 153608366 | TTACTC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10561551,LOVD 3:EMD_000023,OMIM:300384.0010 |
| single nucleotide variant | NM_001159699.2(FHL1):c.261C>A (p.Cys87Ter) | FHL1 | Pathogenic/Likely pathogenic | X | 135289231 | 135289231 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10606517 |
| single nucleotide variant | NM_182961.4(SYNE1):c.17167C>T (p.Gln5723Ter) | SYNE1 | Likely pathogenic | 6 | 152631005 | 152631005 | G | A | criteria provided, single submitter | ClinGen:CA10606687 |
| single nucleotide variant | NM_000117.3(EMD):c.512C>A (p.Ser171Ter) | EMD | Pathogenic | X | 153609304 | 153609304 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10606711 |
| single nucleotide variant | NM_182961.4(SYNE1):c.13060C>T (p.Gln4354Ter) | SYNE1 | Likely pathogenic | 6 | 152652760 | 152652760 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10606944 |
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