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

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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
Deletion	NM_000051.4(ATM):c.6199-2del	ATM	Likely pathogenic	11	108188098	108188098	TA	T	criteria provided, single submitter	ClinGen:CA658797731
single nucleotide variant	NM_000051.4(ATM):c.6453-1G>C	ATM	Likely pathogenic	11	108192027	108192027	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA382553804
single nucleotide variant	NM_000051.4(ATM):c.7080T>G (p.Tyr2360Ter)	ATM	Pathogenic	11	108198476	108198476	T	G	criteria provided, single submitter	ClinGen:CA382559168
single nucleotide variant	NM_000051.4(ATM):c.7927+1G>C	ATM	Likely pathogenic	11	108203628	108203628	G	C	criteria provided, single submitter	ClinGen:CA382561532
Deletion	NM_000051.4(ATM):c.8224_8225del (p.Asn2742fs)	ATM	Pathogenic	11	108206643	108206644	GAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA601727583
single nucleotide variant	NM_000051.4(ATM):c.8419-2A>G	ATM	Likely pathogenic	11	108216468	108216468	A	G	criteria provided, single submitter	ClinGen:CA382517699
single nucleotide variant	NM_000051.4(ATM):c.8786+2T>A	ATM	Pathogenic	11	108224609	108224609	T	A	criteria provided, single submitter	ClinGen:CA382524492
Deletion	NM_000051.4(ATM):c.364_368del (p.Asn122fs)	ATM	Pathogenic	11	108106426	108106430	CTTAAA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.392C>G (p.Ser131Ter)	ATM	Pathogenic/Likely pathogenic	11	108106457	108106457	C	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.432dup (p.Leu145fs)	ATM	Pathogenic/Likely pathogenic	11	108106496	108106497	T	TA	criteria provided, multiple submitters, no conflicts	-

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