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_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs)	BRCA2	Pathogenic/Likely pathogenic	13	32971125	32971126	CTG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.4810del (p.Gln1604fs)	BRCA1	Pathogenic/Likely pathogenic	17	41223121	41223121	TG	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_002878.4(RAD51D):c.740_741dup (p.Thr248Ter)	RAD51D	Pathogenic/Likely pathogenic	17	33428381	33428382	T	TCA	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000059.4(BRCA2):c.5803delinsTT (p.Asn1935fs)	BRCA2	Pathogenic/Likely pathogenic	13	32914295	32914295	A	TT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.3767del (p.His1256fs)	BRCA2	Pathogenic/Likely pathogenic	13	32912259	32912259	CA	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.1062dup (p.Val355fs)	BRCA2	Pathogenic/Likely pathogenic	13	32906674	32906675	A	AT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_058216.3(RAD51C):c.444del (p.Phe148fs)	RAD51C	Pathogenic/Likely pathogenic	17	56774090	56774090	GT	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.3703C>T (p.Gln1235Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32912195	32912195	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.1593del (p.Glu532fs)	BRCA2	Pathogenic/Likely pathogenic	13	32907203	32907203	TA	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_058216.3(RAD51C):c.50del (p.Phe17fs)	RAD51C	Pathogenic/Likely pathogenic	17	56770052	56770052	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798931