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.1777C>T (p.Gln593Ter)	BAP1	Pathogenic	3	52437267	52437267	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617996
single nucleotide variant	NM_004656.4(BAP1):c.1730-1G>A	BAP1	Likely pathogenic	3	52437315	52437315	C	T	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	-
single nucleotide variant	NM_004656.4(BAP1):c.1729+1G>A	BAP1	Pathogenic	3	52437431	52437431	C	T	criteria provided, multiple submitters, no conflicts	-
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
Duplication	NM_004656.4(BAP1):c.1695dup (p.Glu566Ter)	BAP1	Pathogenic	3	52437465	52437466	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657307
Deletion	NM_004656.4(BAP1):c.1464del (p.Ser489fs)	BAP1	Pathogenic	3	52437697	52437697	TG	T	criteria provided, single submitter	ClinGen:CA645529912
Deletion	NM_004656.4(BAP1):c.1416del (p.Ser473fs)	BAP1	Pathogenic	3	52437745	52437745	TC	T	criteria provided, single submitter	ClinGen:CA16611337
Deletion	NM_004656.4(BAP1):c.1381del (p.Ile461fs)	BAP1	Pathogenic	3	52437780	52437780	AT	A	criteria provided, single submitter	-