Knowledge base for genomic medicine in Japanese
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低ホスファターゼ症
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_000478.6(ALPL):c.297+2T>A | ALPL | Likely pathogenic | 1 | 21887707 | 21887707 | T | A | criteria provided, single submitter | ClinGen:CA16040715 |
| Deletion | NM_000478.6(ALPL):c.522del (p.Ser175fs) | ALPL | Pathogenic/Likely pathogenic | 1 | 21890579 | 21890579 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA666519 |
| Duplication | NM_000478.6(ALPL):c.662dup (p.Gly222fs) | ALPL | Pathogenic/Likely pathogenic | 1 | 21894604 | 21894605 | T | TG | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040717 |
| Deletion | NM_000478.6(ALPL):c.841del (p.His281fs) | ALPL | Likely pathogenic | 1 | 21896842 | 21896842 | AC | A | criteria provided, single submitter | ClinGen:CA16040718 |
| Deletion | NM_000478.6(ALPL):c.903del (p.Asn302fs) | ALPL | Likely pathogenic | 1 | 21900197 | 21900197 | AG | A | criteria provided, single submitter | ClinGen:CA666672 |
| single nucleotide variant | NM_000478.6(ALPL):c.997+2T>G | ALPL | Pathogenic | 1 | 21900294 | 21900294 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040720 |
| single nucleotide variant | NM_000478.6(ALPL):c.998-2A>G | ALPL | Likely pathogenic | 1 | 21902224 | 21902224 | A | G | criteria provided, single submitter | ClinGen:CA16040721 |
| single nucleotide variant | NM_000478.6(ALPL):c.1144G>A (p.Val382Ile) | ALPL | Pathogenic/Likely pathogenic | 1 | 21902372 | 21902372 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA666741 |
| single nucleotide variant | NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser) | ALPL | Pathogenic/Likely pathogenic | 1 | 21903929 | 21903929 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA666834 |
| single nucleotide variant | NM_000478.6(ALPL):c.1426G>T (p.Glu476Ter) | ALPL | Likely pathogenic | 1 | 21903992 | 21903992 | G | T | criteria provided, single submitter | ClinGen:CA16040723 |
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