遺伝性圧脆弱性ニューロパチー - MGenReviews

遺伝性圧脆弱性ニューロパチー

小児・神経疾患

疾患の紹介

病的バリアントリスト

Excelでダウンロード

1
...
4
5
6

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
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000304.4(PMP22):c.179-2A>G	PMP22	Pathogenic	17	15142930	15142930	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000304.4(PMP22):c.79-2A>G	PMP22	Pathogenic	17	15162512	15162512	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000304.4(PMP22):c.420G>A (p.Trp140Ter)	PMP22	Pathogenic/Likely pathogenic	17	15134297	15134297	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NC_000017.10:g.(?_15134228)_(15164050_?)dup	PMP22	Pathogenic	17	15134228	15164050	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_15239461)_(15260737_?)del	PMP22	Pathogenic	17	15142778	15164054	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_15142778)_(15164054_?)dup	PMP22	Pathogenic	17	15142778	15164054	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_15133096)_(15165152_?)dup	PMP22	Pathogenic	17	15133096	15165152	na	na	criteria provided, single submitter	-

1
...
4
5
6