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.4416del (p.Ile1473fs)	ATM	Pathogenic	11	108160508	108160508	TG	T	criteria provided, single submitter	ClinGen:CA10588500
single nucleotide variant	NM_000051.4(ATM):c.4437-1G>A	ATM	Likely pathogenic	11	108163345	108163345	G	A	criteria provided, single submitter	ClinGen:CA10588501
Deletion	NM_000051.4(ATM):c.4683_4689del (p.Asp1563fs)	ATM	Pathogenic	11	108164110	108164116	CTTTTAGA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588502
single nucleotide variant	NM_000051.4(ATM):c.4879C>T (p.Gln1627Ter)	ATM	Pathogenic/Likely pathogenic	11	108165756	108165756	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588503
single nucleotide variant	NM_000051.4(ATM):c.5192C>G (p.Ser1731Ter)	ATM	Pathogenic/Likely pathogenic	11	108172389	108172389	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588504
Deletion	NM_000051.4(ATM):c.6628del (p.Gln2210fs)	ATM	Pathogenic/Likely pathogenic	11	108196090	108196090	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588505
Deletion	NM_000051.4(ATM):c.7066_7081del (p.Val2355_Ile2356insTer)	ATM	Pathogenic/Likely pathogenic	11	108198460	108198475	GTCATCATGCAGACCTA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588508
Deletion	NM_000051.4(ATM):c.7299_7302del (p.Asn2435fs)	ATM	Pathogenic	11	108199955	108199958	TCAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588509
single nucleotide variant	NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter)	ATM	Pathogenic	11	108203492	108203492	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6266193
Deletion	NM_000051.4(ATM):c.8288del (p.Arg2763fs)	ATM	Pathogenic/Likely pathogenic	11	108213968	108213968	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588510

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