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.1379C>A (p.Ser460Ter)	BAP1	Pathogenic	3	52437782	52437782	G	T	criteria provided, single submitter	ClinGen:CA353101690
single nucleotide variant	NM_004656.4(BAP1):c.1379C>G (p.Ser460Ter)	BAP1	Pathogenic	3	52437782	52437782	G	C	criteria provided, single submitter	-
Deletion	NM_004656.4(BAP1):c.1358_1359del (p.Lys453fs)	BAP1	Pathogenic	3	52437802	52437803	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA543056568
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	-
single nucleotide variant	NM_004656.4(BAP1):c.1254T>A (p.Tyr418Ter)	BAP1	Pathogenic	3	52437907	52437907	A	T	criteria provided, single submitter	ClinGen:CA16617998
single nucleotide variant	NM_004656.4(BAP1):c.1251-1G>A	BAP1	Likely pathogenic	3	52437911	52437911	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000003.12:g.(?_52404447)_(52408612_?)del	BAP1	Likely pathogenic	3	52438463	52442628	na	na	criteria provided, single submitter	-
Deletion	NM_004656.4(BAP1):c.1203_1214del (p.Tyr401_Glu405delinsTer)	BAP1	Pathogenic	3	52438505	52438516	CTCGTCATCCTCA	C	criteria provided, single submitter	ClinGen:CA658796332
Duplication	NM_004656.4(BAP1):c.1203dup (p.Glu402Ter)	BAP1	Pathogenic	3	52438515	52438516	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657309
single nucleotide variant	NM_004656.4(BAP1):c.1203T>G (p.Tyr401Ter)	BAP1	Pathogenic	3	52438516	52438516	A	C	criteria provided, multiple submitters, no conflicts	-