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
Indel	NM_000051.4(ATM):c.5980_5986delinsTAAGAAA (p.Lys1994_Glu1996delinsTer)	ATM	Pathogenic	11	108183199	108183205	AAAGAAG	TAAGAAA	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.6352del (p.Glu2118fs)	ATM	Pathogenic/Likely pathogenic	11	108190685	108190685	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.6384del (p.Leu2128fs)	ATM	Likely pathogenic	11	108190717	108190717	TG	T	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.7253_7266del (p.Lys2418fs)	ATM	Likely pathogenic	11	108199911	108199924	AAAAGAGCCAAAGAG	A	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.8076dup (p.Ala2693fs)	ATM	Likely pathogenic	11	108205760	108205761	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.8419G>T (p.Glu2807Ter)	ATM	Pathogenic	11	108216470	108216470	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.8695dup (p.Ile2899fs)	ATM	Pathogenic	11	108224512	108224513	C	CA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.1065+1G>C	ATM	Likely pathogenic	11	108117855	108117855	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.3602_3603del (p.Phe1201fs)	ATM	Pathogenic	11	108153460	108153461	CTT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)	ATM	Pathogenic/Likely pathogenic	11	108159742	108159742	C	A	criteria provided, multiple submitters, no conflicts	-

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