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
Deletion	NM_004656.4(BAP1):c.1984-3_1999del	BAP1	Likely pathogenic	3	52436675	52436693	CTTCTCTGGTCATCAATCTG	C	criteria provided, single submitter	-
single nucleotide variant	NM_004656.4(BAP1):c.2056+1G>C	BAP1	Likely pathogenic	3	52436617	52436617	C	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000003.12:g.(?_52405100)_(52405922_?)del	BAP1	Likely pathogenic	3	52439116	52439938	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004656.4(BAP1):c.784-2A>T	BAP1	Likely pathogenic	3	52439930	52439930	T	A	criteria provided, single submitter	-
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	-
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.660-2A>G	BAP1	Likely pathogenic	3	52440394	52440394	T	C	criteria provided, multiple submitters, no conflicts	-
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.932-2A>T	BAP1	Likely pathogenic	3	52439312	52439312	T	A	criteria provided, single submitter	-
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