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
Deletion	NM_000051.4(ATM):c.1655del (p.Pro552fs)	ATM	Pathogenic/Likely pathogenic	11	108122610	108122610	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041384
Deletion	NM_000051.4(ATM):c.1741_1742del (p.Leu581fs)	ATM	Pathogenic/Likely pathogenic	11	108122697	108122698	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041385
single nucleotide variant	NM_000051.4(ATM):c.1803-2A>G	ATM	Likely pathogenic	11	108123542	108123542	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041386
Deletion	NM_000051.4(ATM):c.1856del (p.Asn619fs)	ATM	Likely pathogenic	11	108123593	108123593	GA	G	criteria provided, single submitter	ClinGen:CA16041387
Deletion	NM_000051.4(ATM):c.2125del (p.Ile709fs)	ATM	Pathogenic/Likely pathogenic	11	108126942	108126942	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041388
single nucleotide variant	NM_000051.4(ATM):c.2135C>G (p.Ser712Ter)	ATM	Pathogenic/Likely pathogenic	11	108126952	108126952	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041389
Duplication	NM_000051.4(ATM):c.2165dup (p.Leu722fs)	ATM	Pathogenic/Likely pathogenic	11	108126978	108126979	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041390
Duplication	NM_000051.4(ATM):c.2377_2378dup (p.Ser794fs)	ATM	Pathogenic/Likely pathogenic	11	108129712	108129713	G	GAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041392
single nucleotide variant	NM_000051.4(ATM):c.2542G>T (p.Glu848Ter)	ATM	Likely pathogenic	11	108137973	108137973	G	T	criteria provided, single submitter	ClinGen:CA16041393
Deletion	NM_000051.4(ATM):c.2606_2607del (p.Ala869fs)	ATM	Pathogenic/Likely pathogenic	11	108138037	108138038	GCA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041394

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