遺伝性乳がん・卵巣がん症候群

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_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
Deletion	NM_000059.4(BRCA2):c.2644del (p.Leu882fs)	BRCA2	Pathogenic	13	32911136	32911136	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683839
Deletion	NM_000059.4(BRCA2):c.5162del (p.Asn1721fs)	BRCA2	Pathogenic	13	32913652	32913652	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683840
Deletion	NM_000059.4(BRCA2):c.5925del (p.Cys1975fs)	BRCA2	Pathogenic/Likely pathogenic	13	32914417	32914417	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683862