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.437+1G>T	BAP1	Pathogenic/Likely pathogenic	3	52441414	52441414	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353110639
single nucleotide variant	NM_004656.4(BAP1):c.438-2A>G	BAP1	Pathogenic	3	52441334	52441334	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA129102,OMIM:603089.0003
Deletion	NM_004656.4(BAP1):c.458_459del (p.Pro153fs)	BAP1	Pathogenic/Likely pathogenic	3	52441311	52441312	CAG	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004656.4(BAP1):c.510dup (p.Val171fs)	BAP1	Pathogenic	3	52441259	52441260	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611359
Duplication	NM_004656.4(BAP1):c.517dup (p.Tyr173fs)	BAP1	Pathogenic	3	52441252	52441253	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611355
single nucleotide variant	NM_004656.4(BAP1):c.519T>G (p.Tyr173Ter)	BAP1	Pathogenic	3	52441251	52441251	A	C	criteria provided, single submitter	ClinGen:CA16611351
single nucleotide variant	NM_004656.4(BAP1):c.544G>T (p.Glu182Ter)	BAP1	Pathogenic	3	52441226	52441226	C	A	criteria provided, single submitter	ClinGen:CA16611445
single nucleotide variant	NM_004656.4(BAP1):c.580+1G>A	BAP1	Pathogenic	3	52441189	52441189	C	T	criteria provided, single submitter	ClinGen:CA353109327
single nucleotide variant	NM_004656.4(BAP1):c.581-1G>T	BAP1	Pathogenic/Likely pathogenic	3	52440924	52440924	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004656.4(BAP1):c.581-1G>A	BAP1	Pathogenic	3	52440924	52440924	C	T	criteria provided, single submitter	ClinGen:CA353109259