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.1321C>T (p.Gln441Ter)	BAP1	Pathogenic	3	52437840	52437840	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004656.4(BAP1):c.11del (p.Gly4fs)	BAP1	Pathogenic	3	52443884	52443884	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_004656.4(BAP1):c.15G>A (p.Trp5Ter)	BAP1	Pathogenic	3	52443880	52443880	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004656.4(BAP1):c.178C>T (p.Arg60Ter)	BAP1	Pathogenic	3	52442567	52442567	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004656.4(BAP1):c.1729+1del	BAP1	Pathogenic	3	52437431	52437431	AC	A	criteria provided, single submitter	-
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.855dup (p.Lys286fs)	BAP1	Pathogenic	3	52439856	52439857	T	TG	criteria provided, single submitter	-
Deletion	NM_004656.4(BAP1):c.91del (p.Glu31fs)	BAP1	Pathogenic	3	52443601	52443601	TC	T	criteria provided, single submitter	ClinGen:CA658796336
single nucleotide variant	NM_004656.4(BAP1):c.592G>T (p.Glu198Ter)	BAP1	Pathogenic	3	52440912	52440912	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353109170
Deletion	NM_004656.4(BAP1):c.1464del (p.Ser489fs)	BAP1	Pathogenic	3	52437697	52437697	TG	T	criteria provided, single submitter	ClinGen:CA645529912