BAP1関連腫瘍感受性症候群

腫瘍性疾患

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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.2057-2A>G	BAP1	Likely pathogenic	3	52436439	52436439	T	C	criteria provided, single submitter	ClinGen:CA129101,OMIM:603089.0002
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
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.659+1del	BAP1	Likely pathogenic	3	52440844	52440844	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617999
Duplication	NM_004656.4(BAP1):c.586dup (p.Trp196fs)	BAP1	Likely pathogenic	3	52440917	52440918	C	CA	criteria provided, single submitter	ClinGen:CA16618001
Deletion	NC_000003.12:g.(?_52404447)_(52408612_?)del	BAP1	Likely pathogenic	3	52438463	52442628	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004656.4(BAP1):c.1984-1G>A	BAP1	Likely pathogenic	3	52436691	52436691	C	T	criteria provided, single submitter	ClinGen:CA353096404
single nucleotide variant	NM_004656.4(BAP1):c.38-1G>A	BAP1	Likely pathogenic	3	52443760	52443760	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353115002
single nucleotide variant	NM_004656.4(BAP1):c.255+1G>A	BAP1	Likely pathogenic	3	52442489	52442489	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353112834
single nucleotide variant	NM_004656.4(BAP1):c.932-2A>T	BAP1	Likely pathogenic	3	52439312	52439312	T	A	criteria provided, single submitter	-