Knowledge base for genomic medicine in Japanese
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ゴーシェ病
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) | ||||||||||
| Deletion | NM_000157.4(GBA1):c.1029del (p.Lys342_Tyr343insTer) | GBA1 | Pathogenic | 1 | 155206231 | 155206231 | CA | C | criteria provided, single submitter | ClinGen:CA421022126 |
| Deletion | NM_000157.4(GBA1):c.630del (p.Val211fs) | GBA1 | Pathogenic | 1 | 155208056 | 155208056 | CG | C | criteria provided, single submitter | ClinGen:CA658683166 |
| single nucleotide variant | NM_000157.4(GBA1):c.1312G>A (p.Asp438Asn) | GBA1 | Pathogenic | 1 | 155205548 | 155205548 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA342713229 |
| single nucleotide variant | NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser) | GBA1 | Likely pathogenic | 1 | 155206208 | 155206208 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA342717600 |
| single nucleotide variant | NM_000157.4(GBA1):c.1348T>A (p.Phe450Ile) | GBA1 | Pathogenic | 1 | 155205512 | 155205512 | A | T | criteria provided, single submitter | ClinGen:CA342712792 |
| single nucleotide variant | NM_000157.4(GBA1):c.1279G>T (p.Glu427Ter) | GBA1 | Likely pathogenic | 1 | 155205581 | 155205581 | C | A | criteria provided, single submitter | ClinGen:CA342713575 |
| single nucleotide variant | NM_000157.4(GBA1):c.886C>T (p.Arg296Ter) | GBA1 | Pathogenic | 1 | 155207245 | 155207245 | G | A | criteria provided, single submitter | - |
| single nucleotide variant | NM_000157.4(GBA1):c.701G>A (p.Gly234Glu) | GBA1 | Pathogenic | 1 | 155207985 | 155207985 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000157.4(GBA1):c.928A>G (p.Ser310Gly) | GBA1 | Pathogenic/Likely pathogenic | 1 | 155207203 | 155207203 | T | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000157.4(GBA1):c.1271T>C (p.Leu424Pro) | GBA1 | Likely pathogenic | 1 | 155205589 | 155205589 | A | G | criteria provided, single submitter | - |
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