家族性膵がん - MGenReviews

家族性膵がん

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_007294.4(BRCA1):c.3253A>T (p.Arg1085Ter)	BRCA1	Pathogenic	17	41244295	41244295	T	A	criteria provided, single submitter	ClinGen:CA10595478
Deletion	NM_007294.4(BRCA1):c.2416_2417del (p.Ala806fs)	BRCA1	Pathogenic	17	41245131	41245132	TGC	T	criteria provided, single submitter	ClinGen:CA658684089
Duplication	NM_007294.4(BRCA1):c.4986dup (p.Met1663fs)	BRCA1	Pathogenic	17	41222944	41222945	C	CA	criteria provided, single submitter	ClinGen:CA658684112
Deletion	NM_007294.4(BRCA1):c.4736_4739del (p.Pro1579fs)	BRCA1	Pathogenic	17	41223192	41223195	AGAAG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684116
Deletion	NM_007294.4(BRCA1):c.1765del (p.Ser589fs)	BRCA1	Pathogenic	17	41245783	41245783	CT	C	criteria provided, single submitter	ClinGen:CA658684113
Deletion	NM_007294.4(BRCA1):c.697del (p.Asp232_Val233insTer)	BRCA1	Pathogenic	17	41246851	41246851	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684123
Deletion	NM_007294.4(BRCA1):c.415del (p.Gln139fs)	BRCA1	Pathogenic	17	41256165	41256165	TG	T	criteria provided, single submitter	ClinGen:CA658684044
single nucleotide variant	NM_000059.4(BRCA2):c.6592G>T (p.Glu2198Ter)	BRCA2	Likely pathogenic	13	32915084	32915084	G	T	criteria provided, single submitter	ClinGen:CA387790035
single nucleotide variant	NM_000059.4(BRCA2):c.682-1G>T	BRCA2	Pathogenic	13	32905055	32905055	G	T	criteria provided, single submitter	ClinGen:CA387759830
Deletion	NM_000059.4(BRCA2):c.1059del (p.Phe354fs)	BRCA2	Pathogenic	13	32906674	32906674	CA	C	criteria provided, single submitter	ClinGen:CA658683843