原発性免疫不全症候群 - MGenReviews

原発性免疫不全症候群

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
...
29
30
31
32
33
...
151

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_000051.4(ATM):c.1931C>A (p.Ser644Ter)	ATM	Pathogenic/Likely pathogenic	11	108124573	108124573	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579032
single nucleotide variant	NM_000051.4(ATM):c.2023C>T (p.Gln675Ter)	ATM	Pathogenic/Likely pathogenic	11	108124665	108124665	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6264916
single nucleotide variant	NM_000051.4(ATM):c.2251-1G>C	ATM	Pathogenic/Likely pathogenic	11	108128207	108128207	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579044
Deletion	NM_000051.4(ATM):c.2295del (p.Asn765fs)	ATM	Pathogenic/Likely pathogenic	11	108128252	108128252	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579048
single nucleotide variant	NM_000051.4(ATM):c.2497G>T (p.Gly833Ter)	ATM	Pathogenic	11	108137928	108137928	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579056
single nucleotide variant	NM_000051.4(ATM):c.2500G>T (p.Glu834Ter)	ATM	Pathogenic	11	108137931	108137931	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579057
single nucleotide variant	NM_000051.4(ATM):c.2672C>G (p.Ser891Ter)	ATM	Pathogenic	11	108139170	108139170	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579065
single nucleotide variant	NM_000051.4(ATM):c.3078-1G>A	ATM	Pathogenic/Likely pathogenic	11	108143258	108143258	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6265193
single nucleotide variant	NM_000051.4(ATM):c.3078G>T (p.Trp1026Cys)	ATM	Pathogenic/Likely pathogenic	11	108143259	108143259	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579081
Duplication	NM_000051.4(ATM):c.3085dup (p.Thr1029fs)	ATM	Pathogenic	11	108143264	108143265	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579083

1
...
29
30
31
32
33
...
151