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
Duplication	NM_004656.4(BAP1):c.517dup (p.Tyr173fs)	BAP1	Pathogenic	3	52441252	52441253	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611355
single nucleotide variant	NM_004656.4(BAP1):c.255+1G>T	BAP1	Likely pathogenic	3	52442489	52442489	C	A	criteria provided, single submitter	ClinGen:CA16611358
Duplication	NM_004656.4(BAP1):c.510dup (p.Val171fs)	BAP1	Pathogenic	3	52441259	52441260	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611359
single nucleotide variant	NM_004656.4(BAP1):c.181A>T (p.Lys61Ter)	BAP1	Pathogenic	3	52442564	52442564	T	A	criteria provided, single submitter	ClinGen:CA16611360
single nucleotide variant	NM_004656.4(BAP1):c.123-1G>C	BAP1	Likely pathogenic	3	52442623	52442623	C	G	criteria provided, single submitter	ClinGen:CA16611365
Deletion	NM_004656.4(BAP1):c.65del (p.Phe22fs)	BAP1	Pathogenic	3	52443732	52443732	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611368
Deletion	NM_004656.4(BAP1):c.644del (p.Gly215fs)	BAP1	Pathogenic	3	52440860	52440860	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611441
single nucleotide variant	NM_004656.4(BAP1):c.544G>T (p.Glu182Ter)	BAP1	Pathogenic	3	52441226	52441226	C	A	criteria provided, single submitter	ClinGen:CA16611445
Duplication	NM_004656.4(BAP1):c.1185dup (p.Asp396fs)	BAP1	Pathogenic	3	52438533	52438534	C	CT	criteria provided, single submitter	ClinGen:CA16611535
single nucleotide variant	NM_004656.4(BAP1):c.1777C>T (p.Gln593Ter)	BAP1	Pathogenic	3	52437267	52437267	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617996

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