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
Duplication	NM_004656.4(BAP1):c.127dup (p.Val43fs)	BAP1	Pathogenic	3	52442617	52442618	A	AC	criteria provided, single submitter	ClinGen:CA658683360
single nucleotide variant	NM_004656.4(BAP1):c.155G>A (p.Trp52Ter)	BAP1	Pathogenic	3	52442590	52442590	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	-
single nucleotide variant	NM_004656.4(BAP1):c.181A>T (p.Lys61Ter)	BAP1	Pathogenic	3	52442564	52442564	T	A	criteria provided, single submitter	ClinGen:CA16611360
single nucleotide variant	NM_004656.4(BAP1):c.255+1G>A	BAP1	Likely pathogenic	3	52442489	52442489	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA353112834
single nucleotide variant	NM_004656.4(BAP1):c.255+1G>T	BAP1	Likely pathogenic	3	52442489	52442489	C	A	criteria provided, single submitter	ClinGen:CA16611358
Deletion	NM_004656.4(BAP1):c.254_255+15del	BAP1	Likely pathogenic	3	52442475	52442491	ACAGAGTCCAGCAGACCT	A	criteria provided, single submitter	-
single nucleotide variant	NM_004656.4(BAP1):c.375+1G>T	BAP1	Likely pathogenic	3	52441973	52441973	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004656.4(BAP1):c.437+1G>T	BAP1	Pathogenic/Likely pathogenic	3	52441414	52441414	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353110639
single nucleotide variant	NM_004656.4(BAP1):c.438-2A>G	BAP1	Pathogenic	3	52441334	52441334	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA129102,OMIM:603089.0003