BAP1関連腫瘍感受性症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.639dup (p.Ile214fs)	BAP1	Pathogenic	3	52440864	52440865	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000003.12:g.(?_52405100)_(52405922_?)del	BAP1	Likely pathogenic	3	52439116	52439938	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004656.4(BAP1):c.2056+1G>C	BAP1	Likely pathogenic	3	52436617	52436617	C	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004656.4(BAP1):c.1984-3_1999del	BAP1	Likely pathogenic	3	52436675	52436693	CTTCTCTGGTCATCAATCTG	C	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	-
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	-
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.122+1G>A	BAP1	Pathogenic	3	52443569	52443569	C	T	criteria provided, multiple submitters, no conflicts	-