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	-
Deletion	NM_004656.4(BAP1):c.11del (p.Gly4fs)	BAP1	Pathogenic	3	52443884	52443884	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_004656.4(BAP1):c.15G>A (p.Trp5Ter)	BAP1	Pathogenic	3	52443880	52443880	C	T	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	-
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
Deletion	NM_004656.4(BAP1):c.65del (p.Phe22fs)	BAP1	Pathogenic	3	52443732	52443732	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611368
Duplication	NM_004656.4(BAP1):c.79dup (p.Val27fs)	BAP1	Pathogenic	3	52443612	52443613	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657316
Deletion	NM_004656.4(BAP1):c.91del (p.Glu31fs)	BAP1	Pathogenic	3	52443601	52443601	TC	T	criteria provided, single submitter	ClinGen:CA658796336
single nucleotide variant	NM_004656.4(BAP1):c.118C>T (p.Gln40Ter)	BAP1	Pathogenic/Likely pathogenic	3	52443574	52443574	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353114487
single nucleotide variant	NM_004656.4(BAP1):c.122+1G>A	BAP1	Pathogenic	3	52443569	52443569	C	T	criteria provided, multiple submitters, no conflicts	-