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
single nucleotide variant	NM_000051.4(ATM):c.7788+1G>T	ATM	Likely pathogenic	11	108202765	108202765	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.8440del (p.Glu2814fs)	ATM	Pathogenic	11	108216491	108216491	TG	T	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108334963)_(108354880_?)del	ATM	Likely pathogenic	11	108205690	108225607	na	na	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.229dup (p.Ile77fs)	ATM	Pathogenic	11	108099946	108099947	G	GA	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.299T>A (p.Leu100Ter)	ATM	Pathogenic	11	108100018	108100018	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.978del (p.Ile326fs)	ATM	Pathogenic	11	108117767	108117767	TA	T	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.1236-2del	ATM	Likely pathogenic	11	108121426	108121426	TA	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.1898+1G>A	ATM	Pathogenic	11	108123640	108123640	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.2125-2A>C	ATM	Likely pathogenic	11	108126940	108126940	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.2620G>T (p.Glu874Ter)	ATM	Pathogenic	11	108138051	108138051	G	T	criteria provided, single submitter	-

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