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	NC_000003.11:g.(?_52436298)_(52443900_?)del	BAP1	Pathogenic	3	52436298	52443900	na	na	criteria provided, single submitter	-
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.2056+1G>C	BAP1	Likely pathogenic	3	52436617	52436617	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004656.4(BAP1):c.2050C>T (p.Gln684Ter)	BAP1	Pathogenic	3	52436624	52436624	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA129103,OMIM:603089.0004
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.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.1975A>T (p.Lys659Ter)	BAP1	Pathogenic	3	52436803	52436803	T	A	criteria provided, single submitter	ClinGen:CA353096480
single nucleotide variant	NM_004656.4(BAP1):c.1938T>A (p.Tyr646Ter)	BAP1	Pathogenic	3	52436840	52436840	A	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004656.4(BAP1):c.1896_1900dup (p.Ala634fs)	BAP1	Pathogenic	3	52436877	52436878	G	GCCAGC	criteria provided, single submitter	-
Deletion	NM_004656.4(BAP1):c.1882_1885del (p.Ser628fs)	BAP1	Pathogenic	3	52437159	52437162	GGTGA	G	criteria provided, multiple submitters, no conflicts	OMIM:603089.0006