BAP1関連腫瘍感受性症候群 - MGenReviews

BAP1関連腫瘍感受性症候群

腫瘍性疾患

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_004656.4(BAP1):c.11del (p.Gly4fs)	BAP1	Pathogenic	3	52443884	52443884	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_004656.4(BAP1):c.1730-1G>A	BAP1	Likely pathogenic	3	52437315	52437315	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004656.4(BAP1):c.660-2A>G	BAP1	Likely pathogenic	3	52440394	52440394	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004656.4(BAP1):c.254_255+15del	BAP1	Likely pathogenic	3	52442475	52442491	ACAGAGTCCAGCAGACCT	A	criteria provided, single submitter	-
single nucleotide variant	NM_004656.4(BAP1):c.1321C>T (p.Gln441Ter)	BAP1	Pathogenic	3	52437840	52437840	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004656.4(BAP1):c.1203T>G (p.Tyr401Ter)	BAP1	Pathogenic	3	52438516	52438516	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004656.4(BAP1):c.37+1G>T	BAP1	Likely pathogenic	3	52443857	52443857	C	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004656.4(BAP1):c.1896_1900dup (p.Ala634fs)	BAP1	Pathogenic	3	52436877	52436878	G	GCCAGC	criteria provided, single submitter	-
Deletion	NM_004656.4(BAP1):c.1882_1885del (p.Ser628fs)	BAP1	Pathogenic	3	52437159	52437162	GGTGA	G	criteria provided, multiple submitters, no conflicts	OMIM:603089.0006
Deletion	NM_004656.4(BAP1):c.1381del (p.Ile461fs)	BAP1	Pathogenic	3	52437780	52437780	AT	A	criteria provided, single submitter	-

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