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
single nucleotide variant	NM_004656.4(BAP1):c.1174C>T (p.Gln392Ter)	BAP1	Pathogenic	3	52438545	52438545	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353103210
single nucleotide variant	NM_004656.4(BAP1):c.956C>G (p.Ser319Ter)	BAP1	Pathogenic	3	52439286	52439286	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA353106260
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
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.581-1G>A	BAP1	Pathogenic	3	52440924	52440924	C	T	criteria provided, single submitter	ClinGen:CA353109259
Duplication	NM_004656.4(BAP1):c.837dup (p.Gln280fs)	BAP1	Pathogenic	3	52439874	52439875	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796333
Deletion	NM_004656.4(BAP1):c.1203_1214del (p.Tyr401_Glu405delinsTer)	BAP1	Pathogenic	3	52438505	52438516	CTCGTCATCCTCA	C	criteria provided, single submitter	ClinGen:CA658796332
single nucleotide variant	NM_004656.4(BAP1):c.1975A>T (p.Lys659Ter)	BAP1	Pathogenic	3	52436803	52436803	T	A	criteria provided, single submitter	ClinGen:CA353096480
Duplication	NM_004656.4(BAP1):c.831dup (p.Glu278fs)	BAP1	Pathogenic	3	52439880	52439881	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796334
Deletion	NM_004656.4(BAP1):c.1464del (p.Ser489fs)	BAP1	Pathogenic	3	52437697	52437697	TG	T	criteria provided, single submitter	ClinGen:CA645529912