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
Insertion	NM_007294.4(BRCA1):c.65_66insTA (p.Leu22fs)	BRCA1	Pathogenic	17	41276048	41276049	T	TTA	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.45dup (p.Asn16Ter)	BRCA1	Pathogenic	17	41276068	41276069	T	TA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_058216.3(RAD51C):c.199G>T (p.Glu67Ter)	RAD51C	Pathogenic	17	56772345	56772345	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.537dup (p.Ile180fs)	BRCA2	Pathogenic	13	32900655	32900656	A	AT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.683del (p.Asn228fs)	BRCA2	Likely pathogenic	13	32905056	32905056	GA	G	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.738del (p.Phe246fs)	BRCA2	Pathogenic/Likely pathogenic	13	32905110	32905110	AT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.1495C>T (p.Gln499Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32907110	32907110	C	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000059.4(BRCA2):c.2167_2169delinsCT (p.Ser723fs)	BRCA2	Likely pathogenic	13	32910659	32910661	AGC	CT	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.5818G>T (p.Glu1940Ter)	BRCA2	Likely pathogenic	13	32914310	32914310	G	T	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000059.4(BRCA2):c.6290_6291insTA (p.Arg2099fs)	BRCA2	Likely pathogenic	13	32914782	32914783	C	CTA	criteria provided, single submitter	-