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
single nucleotide variant	NM_000051.4(ATM):c.8584+2T>C	ATM	Pathogenic/Likely pathogenic	11	108216637	108216637	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA298083
single nucleotide variant	NM_000051.4(ATM):c.8988-1G>C	ATM	Pathogenic	11	108236051	108236051	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA298332
single nucleotide variant	NM_000051.4(ATM):c.1A>C (p.Met1Leu)	ATM	Pathogenic/Likely pathogenic	11	108098352	108098352	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA197028
single nucleotide variant	NM_000051.4(ATM):c.2T>C (p.Met1Thr)	ATM	Pathogenic	11	108098353	108098353	T	C	reviewed by expert panel	ClinGen:CA197209
Deletion	NM_000051.4(ATM):c.138_141del (p.His46fs)	ATM	Pathogenic	11	108098566	108098569	GCATT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA196383
single nucleotide variant	NM_000051.4(ATM):c.151C>T (p.Gln51Ter)	ATM	Pathogenic	11	108098581	108098581	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA198174
Deletion	NM_000051.4(ATM):c.478_482del (p.Ser160fs)	ATM	Pathogenic/Likely pathogenic	11	108106542	108106546	TATCTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA192140
single nucleotide variant	NM_000051.4(ATM):c.513C>G (p.Tyr171Ter)	ATM	Pathogenic/Likely pathogenic	11	108114696	108114696	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA190051
single nucleotide variant	NM_000051.4(ATM):c.901+1G>A	ATM	Pathogenic	11	108115754	108115754	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA195792
single nucleotide variant	NM_000051.4(ATM):c.1065+1G>T	ATM	Pathogenic/Likely pathogenic	11	108117855	108117855	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA194915

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