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.758dup (p.Thr254fs)	BAP1	Pathogenic	3	52440293	52440294	C	CT	criteria provided, single submitter	ClinGen:CA658657313
single nucleotide variant	NM_004656.4(BAP1):c.587G>A (p.Trp196Ter)	BAP1	Pathogenic	3	52440917	52440917	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353109211
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.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.1379C>A (p.Ser460Ter)	BAP1	Pathogenic	3	52437782	52437782	G	T	criteria provided, single submitter	ClinGen:CA353101690
Duplication	NM_004656.4(BAP1):c.1695dup (p.Glu566Ter)	BAP1	Pathogenic	3	52437465	52437466	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657307
Insertion	NM_004656.4(BAP1):c.771_772insTACTA (p.Ala258delinsTyrTer)	BAP1	Pathogenic	3	52440280	52440281	C	CTAGTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657312
single nucleotide variant	NM_004656.4(BAP1):c.1153C>T (p.Arg385Ter)	BAP1	Pathogenic	3	52438566	52438566	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353103322
Duplication	NM_004656.4(BAP1):c.79dup (p.Val27fs)	BAP1	Pathogenic	3	52443612	52443613	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657316
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