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.458_459del (p.Pro153fs)	BAP1	Pathogenic/Likely pathogenic	3	52441311	52441312	CAG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004656.4(BAP1):c.581-1G>T	BAP1	Pathogenic/Likely pathogenic	3	52440924	52440924	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004656.4(BAP1):c.118C>T (p.Gln40Ter)	BAP1	Pathogenic/Likely pathogenic	3	52443574	52443574	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353114487
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
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
single nucleotide variant	NM_004656.4(BAP1):c.122+1G>A	BAP1	Pathogenic	3	52443569	52443569	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004656.4(BAP1):c.1729+1G>A	BAP1	Pathogenic	3	52437431	52437431	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004656.4(BAP1):c.639dup (p.Ile214fs)	BAP1	Pathogenic	3	52440864	52440865	T	TA	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004656.4(BAP1):c.706dup (p.Asp236fs)	BAP1	Pathogenic	3	52440345	52440346	T	TC	criteria provided, single submitter	-
Deletion	NM_004656.4(BAP1):c.898_917del (p.Arg300fs)	BAP1	Pathogenic	3	52439795	52439814	CTCAGAGGCTGCAGGGGCCCT	C	criteria provided, single submitter	-