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
Indel	NM_000051.4(ATM):c.2839-3_2839delinsGATACTA	ATM	Pathogenic/Likely pathogenic	11	108141788	108141791	TAGT	GATACTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA191853
single nucleotide variant	NM_000051.4(ATM):c.2849T>G (p.Leu950Arg)	ATM	Likely pathogenic	11	108141801	108141801	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA195209,UniProtKB:Q13315#VAR_010815
Deletion	NM_000051.4(ATM):c.2965del (p.Thr989fs)	ATM	Pathogenic	11	108142018	108142018	TA	T	criteria provided, single submitter	ClinGen:CA196957
single nucleotide variant	NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)	ATM	Likely pathogenic	11	108143318	108143318	T	C	reviewed by expert panel	ClinGen:CA195169,UniProtKB:Q13315#VAR_077237
single nucleotide variant	NM_000051.4(ATM):c.3349C>T (p.Gln1117Ter)	ATM	Pathogenic	11	108150282	108150282	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA191131
Deletion	NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs)	ATM	Pathogenic	11	108153485	108153486	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA197933
Indel	NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs)	ATM	Pathogenic	11	108154961	108154963	TAT	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA190854
Deletion	NM_000051.4(ATM):c.3760del (p.Val1254fs)	ATM	Pathogenic	11	108154966	108154966	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA196848
Duplication	NM_000051.4(ATM):c.3780dup (p.Ile1261fs)	ATM	Pathogenic	11	108154986	108154987	T	TG	criteria provided, single submitter	ClinGen:CA193873
Deletion	NM_000051.4(ATM):c.3895del (p.Ala1299fs)	ATM	Pathogenic	11	108155102	108155102	TG	T	criteria provided, single submitter	ClinGen:CA196828

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