先天性第XI因子欠乏症 - MGenReviews

先天性第XI因子欠乏症

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_000128.4(F11):c.219G>A (p.Trp73Ter)	F11	Pathogenic/Likely pathogenic	4	187194225	187194225	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3163603
Deletion	NM_000128.4(F11):c.291del (p.Tyr98fs)	F11	Likely pathogenic	4	187194295	187194295	TG	T	criteria provided, single submitter	ClinGen:CA16040941
single nucleotide variant	NM_000128.4(F11):c.326-1G>A	F11	Pathogenic	4	187195269	187195269	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040942
Deletion	NM_000128.4(F11):c.343del (p.Tyr115fs)	F11	Likely pathogenic	4	187195285	187195285	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.359T>C (p.Met120Thr)	F11	Likely pathogenic	4	187195303	187195303	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000128.4(F11):c.403G>T (p.Glu135Ter)	F11	Pathogenic	4	187195347	187195347	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA121745,OMIM:264900.0002
single nucleotide variant	NM_000128.4(F11):c.408C>A (p.Cys136Ter)	F11	Pathogenic/Likely pathogenic	4	187195352	187195352	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA199095
single nucleotide variant	NM_000128.4(F11):c.438C>A (p.Cys146Ter)	F11	Pathogenic/Likely pathogenic	4	187195382	187195382	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA121752,OMIM:264900.0007
single nucleotide variant	NM_000128.4(F11):c.486-2A>G	F11	Likely pathogenic	4	187196939	187196939	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040943
Deletion	NM_000128.4(F11):c.596-7_600del	F11	Likely pathogenic	4	187197376	187197387	CGTCGCGCAGCTT	C	criteria provided, single submitter	ClinGen:CA16040944

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