BAP1関連腫瘍感受性症候群

腫瘍性疾患

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.586dup (p.Trp196fs)	BAP1	Likely pathogenic	3	52440917	52440918	C	CA	criteria provided, single submitter	ClinGen:CA16618001
single nucleotide variant	NM_004656.4(BAP1):c.587G>A (p.Trp196Ter)	BAP1	Pathogenic	3	52440917	52440917	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353109211
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
Duplication	NM_004656.4(BAP1):c.592dup (p.Glu198fs)	BAP1	Pathogenic/Likely pathogenic	3	52440911	52440912	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618000
Duplication	NM_004656.4(BAP1):c.639dup (p.Ile214fs)	BAP1	Pathogenic	3	52440864	52440865	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004656.4(BAP1):c.644del (p.Gly215fs)	BAP1	Pathogenic	3	52440860	52440860	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611441
Deletion	NM_004656.4(BAP1):c.659+1del	BAP1	Likely pathogenic	3	52440844	52440844	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617999
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	-
Duplication	NM_004656.4(BAP1):c.706dup (p.Asp236fs)	BAP1	Pathogenic	3	52440345	52440346	T	TC	criteria provided, single submitter	-
single nucleotide variant	NM_004656.4(BAP1):c.757C>T (p.Gln253Ter)	BAP1	Pathogenic	3	52440295	52440295	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353107109