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。
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) | ||||||||||
| Deletion | NM_000478.6(ALPL):c.1530_1549del (p.Leu512fs) | ALPL | Likely pathogenic | 1 | 21904091 | 21904110 | AGGCCCCCTGCTGCTCGCGCT | A | criteria provided, single submitter | ClinGen:CA16040724 |
| single nucleotide variant | NM_000478.6(ALPL):c.668G>A (p.Arg223Gln) | ALPL | Pathogenic | 1 | 21894616 | 21894616 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA666577 |
| single nucleotide variant | NM_000478.6(ALPL):c.1403C>T (p.Ala468Val) | ALPL | Pathogenic/Likely pathogenic | 1 | 21903969 | 21903969 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA666842 |
| Deletion | NM_000478.6(ALPL):c.303del (p.Thr100_Tyr101insTer) | ALPL | Likely pathogenic | 1 | 21889608 | 21889608 | AC | A | criteria provided, single submitter | ClinGen:CA658653731 |
| Deletion | NM_000478.6(ALPL):c.1558_1559del (p.Leu520fs) | ALPL | Likely pathogenic | 1 | 21904124 | 21904125 | CCT | C | criteria provided, single submitter | ClinGen:CA658656892 |
| single nucleotide variant | NM_000478.6(ALPL):c.340G>A (p.Ala114Thr) | ALPL | Pathogenic/Likely pathogenic | 1 | 21889645 | 21889645 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA338877136 |
| Deletion | NM_000478.6(ALPL):c.360_361del (p.Val121fs) | ALPL | Pathogenic | 1 | 21889663 | 21889664 | TGG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA666466 |
| single nucleotide variant | NM_000478.6(ALPL):c.815G>A (p.Arg272His) | ALPL | Pathogenic/Likely pathogenic | 1 | 21896820 | 21896820 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA666626 |
| Duplication | NM_000478.6(ALPL):c.1171dup (p.Arg391fs) | ALPL | Pathogenic/Likely pathogenic | 1 | 21902393 | 21902394 | A | AC | criteria provided, multiple submitters, no conflicts | ClinGen:CA666743 |
| Deletion | NM_000478.6(ALPL):c.205_212del (p.Ala69fs) | ALPL | Likely pathogenic | 1 | 21887611 | 21887618 | ACGGCTGCC | A | criteria provided, single submitter | ClinGen:CA658795411 |
Copyright © Japan Institute for Health Security. All rights reserved.