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
Duplication	NM_000051.4(ATM):c.5894_5900dup (p.Met1967fs)	ATM	Pathogenic/Likely pathogenic	11	108181017	108181018	A	AAAAGTAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619205
Deletion	NM_000051.4(ATM):c.6059del (p.Gly2020fs)	ATM	Pathogenic	11	108186601	108186601	TG	T	criteria provided, single submitter	ClinGen:CA16619207
single nucleotide variant	NM_000051.4(ATM):c.6238T>G (p.Tyr2080Asp)	ATM	Likely pathogenic	11	108188139	108188139	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619210
Duplication	NM_000051.4(ATM):c.6730dup (p.Arg2244fs)	ATM	Pathogenic/Likely pathogenic	11	108196191	108196192	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619219
Indel	NM_000051.4(ATM):c.6736_6755delinsCA (p.Cys2246_Thr2252delinsHis)	ATM	Likely pathogenic	11	108196200	108196219	TGTATTAAGGACATTCTCAC	CA	criteria provided, single submitter	ClinGen:CA16619220
Deletion	NM_000051.4(ATM):c.6754del (p.Thr2252fs)	ATM	Pathogenic	11	108196218	108196218	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619221
Deletion	NM_000051.4(ATM):c.6920_6923del (p.Leu2307fs)	ATM	Pathogenic	11	108196896	108196899	TCTTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619223
Duplication	NM_000051.4(ATM):c.7347dup (p.Leu2450fs)	ATM	Likely pathogenic	11	108200978	108200979	G	GA	criteria provided, single submitter	ClinGen:CA16619230
Deletion	NM_000051.4(ATM):c.7391_7412del (p.Cys2464fs)	ATM	Likely pathogenic	11	108201021	108201042	TTATGTAAAGCAGTTGAAAATTA	T	criteria provided, single submitter	ClinGen:CA16619232
single nucleotide variant	NM_000051.4(ATM):c.7630-2A>G	ATM	Pathogenic/Likely pathogenic	11	108202604	108202604	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619236

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