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
Duplication	NM_000051.4(ATM):c.6997dup	ATM	Pathogenic	11	108198392	108198393	T	TA	reviewed by expert panel	ClinGen:CA345709
single nucleotide variant	NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly)	ATM	Pathogenic/Likely pathogenic	11	108186590	108186590	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA163663,UniProtKB:Q13315#VAR_010838
Deletion	NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)	ATM	Pathogenic/Likely pathogenic	11	108121594	108121595	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA163840
Indel	NM_000051.4(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle)	ATM	Pathogenic/Likely pathogenic	11	108216616	108216617	TG	AA	criteria provided, multiple submitters, no conflicts	ClinGen:CA293967
single nucleotide variant	NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter)	ATM	Pathogenic	11	108216524	108216524	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA163889
Deletion	NM_000051.4(ATM):c.378del (p.Asp126fs)	ATM	Pathogenic/Likely pathogenic	11	108106443	108106443	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA164294
single nucleotide variant	NM_000051.4(ATM):c.967A>G (p.Ile323Val)	ATM	Pathogenic/Likely pathogenic	11	108117756	108117756	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA164527,UniProtKB:Q13315#VAR_010803
single nucleotide variant	NM_000051.4(ATM):c.283C>T (p.Gln95Ter)	ATM	Pathogenic/Likely pathogenic	11	108100002	108100002	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA164660
single nucleotide variant	NM_000051.4(ATM):c.2921+1G>A	ATM	Pathogenic/Likely pathogenic	11	108141874	108141874	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA164701
single nucleotide variant	NM_000051.4(ATM):c.6095+1G>A	ATM	Likely pathogenic	11	108186639	108186639	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA164796

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