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
Duplication	NM_004656.4(BAP1):c.959dup (p.Cys320fs)	BAP1	Pathogenic	3	52439282	52439283	G	GC	criteria provided, single submitter	-
Duplication	NM_004656.4(BAP1):c.1110dup (p.Met371fs)	BAP1	Pathogenic	3	52439131	52439132	T	TG	criteria provided, single submitter	-
single nucleotide variant	NM_004656.4(BAP1):c.1379C>G (p.Ser460Ter)	BAP1	Pathogenic	3	52437782	52437782	G	C	criteria provided, single submitter	-
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	-
Deletion	NM_004656.4(BAP1):c.932-8_960del	BAP1	Pathogenic	3	52439282	52439318	CGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACA	C	criteria provided, single submitter	-
single nucleotide variant	NM_004656.4(BAP1):c.155G>A (p.Trp52Ter)	BAP1	Pathogenic	3	52442590	52442590	C	T	criteria provided, single submitter	-
Deletion	NM_004656.4(BAP1):c.1381del (p.Ile461fs)	BAP1	Pathogenic	3	52437780	52437780	AT	A	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
Duplication	NM_004656.4(BAP1):c.1896_1900dup (p.Ala634fs)	BAP1	Pathogenic	3	52436877	52436878	G	GCCAGC	criteria provided, single submitter	-
single nucleotide variant	NM_004656.4(BAP1):c.1203T>G (p.Tyr401Ter)	BAP1	Pathogenic	3	52438516	52438516	A	C	criteria provided, multiple submitters, no conflicts	-