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.1825_1829del (p.Asn609fs)	BRCA1	Likely pathogenic	17	41245719	41245723	CCTATT	C	criteria provided, single submitter	ClinGen:CA658684109
Indel	NM_007294.4(BRCA1):c.942_956delinsCTTACTTC (p.Arg315fs)	BRCA1	Likely pathogenic	17	41246592	41246606	TTATGTTGGCTCCTT	GAAGTAAG	criteria provided, single submitter	ClinGen:CA658684120
Duplication	NM_007294.4(BRCA1):c.4396dup (p.Ser1466fs)	BRCA1	Pathogenic/Likely pathogenic	17	41228592	41228593	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684036
Duplication	NM_007294.4(BRCA1):c.3475dup (p.Ile1159fs)	BRCA1	Pathogenic/Likely pathogenic	17	41244072	41244073	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684114
single nucleotide variant	NM_007294.4(BRCA1):c.614T>G (p.Leu205Ter)	BRCA1	Likely pathogenic	17	41247919	41247919	A	C	criteria provided, single submitter	ClinGen:CA10600875
Deletion	NM_007294.4(BRCA1):c.379del (p.Ser127fs)	BRCA1	Likely pathogenic	17	41256201	41256201	CT	C	criteria provided, single submitter	ClinGen:CA658684055
single nucleotide variant	NM_000059.4(BRCA2):c.516+2T>G	BRCA2	Pathogenic	13	32900421	32900421	T	G	criteria provided, single submitter	ClinGen:CA387757755
single nucleotide variant	NM_000059.4(BRCA2):c.9649-1G>T	BRCA2	Pathogenic	13	32972298	32972298	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387765053
Insertion	NM_000059.4(BRCA2):c.6261_6262insGT (p.Thr2088fs)	BRCA2	Pathogenic	13	32914753	32914754	A	AGT	criteria provided, single submitter	ClinGen:CA658798130
Deletion	NM_007294.4(BRCA1):c.1568del (p.Leu523fs)	BRCA1	Pathogenic	17	41245980	41245980	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798842