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
Deletion	NM_000051.4(ATM):c.1249del (p.Thr417fs)	ATM	Pathogenic/Likely pathogenic	11	108121440	108121440	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA195638
single nucleotide variant	NM_000051.4(ATM):c.1424C>G (p.Ser475Ter)	ATM	Pathogenic	11	108121616	108121616	C	G	criteria provided, single submitter	ClinGen:CA197002
single nucleotide variant	NM_000051.4(ATM):c.1737G>A (p.Trp579Ter)	ATM	Pathogenic	11	108122693	108122693	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA190035
Duplication	NM_000051.4(ATM):c.1880dup (p.Gln628fs)	ATM	Pathogenic	11	108123615	108123616	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA193014
single nucleotide variant	NM_000051.4(ATM):c.2098C>T (p.Gln700Ter)	ATM	Pathogenic/Likely pathogenic	11	108124740	108124740	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA194043
Deletion	NM_000051.4(ATM):c.2129del (p.Thr710fs)	ATM	Pathogenic	11	108126946	108126946	AC	A	criteria provided, single submitter	ClinGen:CA197891
single nucleotide variant	NM_000051.4(ATM):c.2426C>A (p.Ser809Ter)	ATM	Pathogenic	11	108129762	108129762	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA197946
Deletion	NM_000051.4(ATM):c.2466+1del	ATM	Pathogenic	11	108129803	108129803	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA194178
Deletion	NM_000051.4(ATM):c.2754del (p.Phe918fs)	ATM	Pathogenic	11	108139250	108139250	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA193565
single nucleotide variant	NM_000051.4(ATM):c.2789T>G (p.Leu930Ter)	ATM	Pathogenic/Likely pathogenic	11	108139287	108139287	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA196179

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