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	NC_000003.12:g.(?_52404447)_(52408612_?)del	BAP1	Likely pathogenic	3	52438463	52442628	na	na	criteria provided, single submitter	-
Deletion	NC_000003.11:g.(?_52436298)_(52443900_?)del	BAP1	Pathogenic	3	52436298	52443900	na	na	criteria provided, single submitter	-
Duplication	NM_004656.4(BAP1):c.1203dup (p.Glu402Ter)	BAP1	Pathogenic	3	52438515	52438516	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657309
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
Duplication	NM_004656.4(BAP1):c.586dup (p.Trp196fs)	BAP1	Likely pathogenic	3	52440917	52440918	C	CA	criteria provided, single submitter	ClinGen:CA16618001
Duplication	NM_004656.4(BAP1):c.592dup (p.Glu198fs)	BAP1	Pathogenic/Likely pathogenic	3	52440911	52440912	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618000
Deletion	NM_004656.4(BAP1):c.659+1del	BAP1	Likely pathogenic	3	52440844	52440844	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617999
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.1777C>T (p.Gln593Ter)	BAP1	Pathogenic	3	52437267	52437267	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617996
Duplication	NM_004656.4(BAP1):c.1185dup (p.Asp396fs)	BAP1	Pathogenic	3	52438533	52438534	C	CT	criteria provided, single submitter	ClinGen:CA16611535