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_000074.3(CD40LG):c.559del (p.Ala187fs)	CD40LG	Pathogenic	X	135741347	135741347	AG	A	criteria provided, single submitter	ClinGen:CA658799877
single nucleotide variant	NM_000074.3(CD40LG):c.761C>A (p.Thr254Lys)	CD40LG	Likely pathogenic	X	135741549	135741549	C	A	criteria provided, single submitter	ClinGen:CA414757091
Deletion	NC_000023.11:g.(?_136650246)_(136654450_?)del	CD40LG	Likely pathogenic	X	135732405	135736609	na	na	criteria provided, single submitter	-
Deletion	NM_000074.3(CD40LG):c.304_314del (p.Lys102fs)	CD40LG	Pathogenic	X	135736545	135736555	AACAAAGAGGAG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000074.3(CD40LG):c.347-2A>G	CD40LG	Pathogenic	X	135738513	135738513	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000074.3(CD40LG):c.686T>C (p.Phe229Ser)	CD40LG	Likely pathogenic	X	135741474	135741474	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000074.3(CD40LG):c.632C>A (p.Thr211Asn)	CD40LG	Likely pathogenic	X	135741420	135741420	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000074.3(CD40LG):c.288+1G>A	CD40LG	Likely pathogenic	X	135732557	135732557	G	A	criteria provided, single submitter	-
Deletion	NM_000074.3(CD40LG):c.208_209del (p.Gln70fs)	CD40LG	Likely pathogenic	X	135732475	135732476	TAC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000074.3(CD40LG):c.373C>T (p.His125Tyr)	CD40LG	Pathogenic/Likely pathogenic	X	135738541	135738541	C	T	criteria provided, multiple submitters, no conflicts	-

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