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
single nucleotide variant	NM_004656.4(BAP1):c.592G>T (p.Glu198Ter)	BAP1	Pathogenic	3	52440912	52440912	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353109170
single nucleotide variant	NM_004656.4(BAP1):c.118C>T (p.Gln40Ter)	BAP1	Pathogenic/Likely pathogenic	3	52443574	52443574	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353114487
Deletion	NM_004656.4(BAP1):c.91del (p.Glu31fs)	BAP1	Pathogenic	3	52443601	52443601	TC	T	criteria provided, single submitter	ClinGen:CA658796336
Duplication	NM_004656.4(BAP1):c.855dup (p.Lys286fs)	BAP1	Pathogenic	3	52439856	52439857	T	TG	criteria provided, single submitter	-
single nucleotide variant	NM_004656.4(BAP1):c.932-2A>T	BAP1	Likely pathogenic	3	52439312	52439312	T	A	criteria provided, single submitter	-
Deletion	NM_004656.4(BAP1):c.824del (p.Lys275fs)	BAP1	Pathogenic	3	52439888	52439888	CT	C	criteria provided, single submitter	-
Deletion	NM_004656.4(BAP1):c.1729+1del	BAP1	Pathogenic	3	52437431	52437431	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_004656.4(BAP1):c.581-1G>T	BAP1	Pathogenic/Likely pathogenic	3	52440924	52440924	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004656.4(BAP1):c.178C>T (p.Arg60Ter)	BAP1	Pathogenic	3	52442567	52442567	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004656.4(BAP1):c.15G>A (p.Trp5Ter)	BAP1	Pathogenic	3	52443880	52443880	C	T	criteria provided, single submitter	-

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