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
single nucleotide variant	NM_000059.4(BRCA2):c.8029G>T (p.Glu2677Ter)	BRCA2	Pathogenic	13	32937368	32937368	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387748934
Deletion	NM_000059.4(BRCA2):c.3270del (p.Met1090fs)	BRCA2	Pathogenic	13	32911762	32911762	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683859
Indel	NM_000059.3(BRCA2):c.3761_3764delinsTTTATCTTCAAGTAAGTTTATCTTCAAGTAAATATCTTCAAGTAA (p.Glu1254fs)	BRCA2	Pathogenic	13	32912253	32912256	AGGT	TTTATCTTCAAGTAAGTTTATCTTCAAGTAAATATCTTCAAGTAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683870
Deletion	NM_000059.4(BRCA2):c.3940_3941del (p.Lys1314fs)	BRCA2	Pathogenic	13	32912432	32912433	CAA	C	criteria provided, single submitter	ClinGen:CA658683802
single nucleotide variant	NM_000059.4(BRCA2):c.9454G>T (p.Glu3152Ter)	BRCA2	Pathogenic	13	32969023	32969023	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387761663
Duplication	NM_000059.4(BRCA2):c.9810dup (p.Asp3272fs)	BRCA2	Pathogenic	13	32972458	32972459	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683837
single nucleotide variant	NM_000059.4(BRCA2):c.5054C>G (p.Ser1685Ter)	BRCA2	Pathogenic	13	32913546	32913546	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387784027
Duplication	NM_002878.4(RAD51D):c.641dup (p.Leu215fs)	RAD51D	Likely pathogenic	17	33430498	33430499	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA625782483
Indel	NM_000059.4(BRCA2):c.3165_3167delinsCC (p.Lys1057fs)	BRCA2	Pathogenic	13	32911657	32911659	TCA	CC	criteria provided, single submitter	ClinGen:CA658683858
Deletion	NM_000059.4(BRCA2):c.3452_3455del (p.Ile1151fs)	BRCA2	Pathogenic	13	32911944	32911947	ATCTT	A	criteria provided, single submitter	ClinGen:CA658683864