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
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.778C>T (p.Gln260Ter)	BAP1	Pathogenic	3	52440274	52440274	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349297
Deletion	NC_000003.12:g.(?_52405100)_(52405922_?)del	BAP1	Likely pathogenic	3	52439116	52439938	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004656.4(BAP1):c.784-2A>T	BAP1	Likely pathogenic	3	52439930	52439930	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_004656.4(BAP1):c.799C>T (p.Gln267Ter)	BAP1	Pathogenic	3	52439913	52439913	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA129106,OMIM:603089.0007
Deletion	NM_004656.4(BAP1):c.824del (p.Lys275fs)	BAP1	Pathogenic	3	52439888	52439888	CT	C	criteria provided, single submitter	-
Duplication	NM_004656.4(BAP1):c.831dup (p.Glu278fs)	BAP1	Pathogenic	3	52439880	52439881	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796334
Duplication	NM_004656.4(BAP1):c.837dup (p.Gln280fs)	BAP1	Pathogenic	3	52439874	52439875	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796333
Duplication	NM_004656.4(BAP1):c.855dup (p.Lys286fs)	BAP1	Pathogenic	3	52439856	52439857	T	TG	criteria provided, single submitter	-