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.8152-2A>G	ATM	Pathogenic/Likely pathogenic	11	108206570	108206570	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA6266312
single nucleotide variant	NM_000051.4(ATM):c.8213T>G (p.Leu2738Ter)	ATM	Pathogenic	11	108206633	108206633	T	G	criteria provided, single submitter	ClinGen:CA6266318
Deletion	NM_000051.4(ATM):c.3609del (p.Gly1202_Tyr1203insTer)	ATM	Pathogenic	11	108153469	108153469	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683109
Deletion	NM_000051.4(ATM):c.5098del (p.Lys1701fs)	ATM	Pathogenic	11	108170531	108170531	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683123
single nucleotide variant	NM_000051.4(ATM):c.8419-1G>C	ATM	Likely pathogenic	11	108216469	108216469	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA382517704
Duplication	NM_000051.4(ATM):c.5554dup (p.Gln1852fs)	ATM	Pathogenic	11	108175457	108175458	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683125
Duplication	NM_000051.4(ATM):c.6015dup (p.Glu2007fs)	ATM	Pathogenic	11	108186557	108186558	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645596405
single nucleotide variant	NM_000051.4(ATM):c.6181C>T (p.Gln2061Ter)	ATM	Pathogenic	11	108186823	108186823	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382550728
Duplication	NM_000051.4(ATM):c.6444dup (p.Tyr2149fs)	ATM	Pathogenic	11	108190774	108190775	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683719
single nucleotide variant	NM_000051.4(ATM):c.8546G>C (p.Arg2849Pro)	ATM	Likely pathogenic	11	108216597	108216597	G	C	reviewed by expert panel	ClinGen:CA382518439

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