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

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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
Duplication	NM_000051.4(ATM):c.6399dup (p.Ser2134fs)	ATM	Pathogenic	11	108190730	108190731	C	CA	criteria provided, single submitter	ClinGen:CA658656226
single nucleotide variant	NM_000051.4(ATM):c.2376+1G>C	ATM	Likely pathogenic	11	108128334	108128334	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA382540429
Indel	NM_000051.4(ATM):c.6797_6798delinsC (p.Lys2266fs)	ATM	Pathogenic	11	108196261	108196262	AG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656270
single nucleotide variant	NM_000051.4(ATM):c.6913C>T (p.Gln2305Ter)	ATM	Pathogenic	11	108196890	108196890	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382557041
Duplication	NM_000051.4(ATM):c.4335dup (p.Val1446fs)	ATM	Pathogenic	11	108160424	108160425	G	GT	criteria provided, single submitter	ClinGen:CA476673928
Deletion	NM_000051.4(ATM):c.2817del (p.Lys940fs)	ATM	Pathogenic	11	108139314	108139314	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656148
single nucleotide variant	NM_000051.4(ATM):c.6976-2A>G	ATM	Likely pathogenic	11	108198370	108198370	A	G	criteria provided, single submitter	ClinGen:CA382557694
single nucleotide variant	NM_000051.4(ATM):c.2902G>T (p.Glu968Ter)	ATM	Pathogenic	11	108141854	108141854	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382546939
single nucleotide variant	NM_000051.4(ATM):c.8050C>T (p.Gln2684Ter)	ATM	Pathogenic	11	108205735	108205735	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382561922
Duplication	NM_000051.4(ATM):c.7599_7600dup (p.Gly2534fs)	ATM	Pathogenic	11	108202252	108202253	G	GGA	criteria provided, single submitter	ClinGen:CA658656294

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