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	NM_004656.4(BAP1):c.1835del (p.Lys612fs)	BAP1	Pathogenic	3	52437209	52437209	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611329
single nucleotide variant	NM_004656.4(BAP1):c.1063C>T (p.Gln355Ter)	BAP1	Pathogenic	3	52439179	52439179	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353507
Deletion	NM_004656.4(BAP1):c.1717del (p.Leu573fs)	BAP1	Pathogenic	3	52437444	52437444	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA351499,OMIM:603089.0005,OMIM:603089.0015
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
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
single nucleotide variant	NM_004656.4(BAP1):c.2050C>T (p.Gln684Ter)	BAP1	Pathogenic	3	52436624	52436624	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA129103,OMIM:603089.0004
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
single nucleotide variant	NM_004656.4(BAP1):c.2057-2A>G	BAP1	Likely pathogenic	3	52436439	52436439	T	C	criteria provided, single submitter	ClinGen:CA129101,OMIM:603089.0002