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
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
Duplication	NM_004656.4(BAP1):c.1695dup (p.Glu566Ter)	BAP1	Pathogenic	3	52437465	52437466	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657307
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.580+1G>A	BAP1	Pathogenic	3	52441189	52441189	C	T	criteria provided, single submitter	ClinGen:CA353109327
single nucleotide variant	NM_004656.4(BAP1):c.587G>A (p.Trp196Ter)	BAP1	Pathogenic	3	52440917	52440917	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353109211
Duplication	NM_004656.4(BAP1):c.758dup (p.Thr254fs)	BAP1	Pathogenic	3	52440293	52440294	C	CT	criteria provided, single submitter	ClinGen:CA658657313
single nucleotide variant	NM_004656.4(BAP1):c.757C>T (p.Gln253Ter)	BAP1	Pathogenic	3	52440295	52440295	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353107109
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