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
Duplication	NM_000059.4(BRCA2):c.1010dup (p.Asn337fs)	BRCA2	Pathogenic	13	32906622	32906623	C	CA	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.5388dup (p.Ala1797fs)	BRCA2	Pathogenic	13	32913879	32913880	A	AT	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.5465del (p.Asn1822fs)	BRCA2	Pathogenic	13	32913953	32913953	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.6282T>A (p.Tyr2094Ter)	BRCA2	Pathogenic	13	32914774	32914774	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.6859A>T (p.Arg2287Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32918712	32918712	A	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.7958_7959dup (p.Leu2654fs)	BRCA2	Pathogenic/Likely pathogenic	13	32936811	32936812	C	CTT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.8210T>A (p.Leu2737Ter)	BRCA2	Pathogenic	13	32937549	32937549	T	A	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.8479_8487+8del	BRCA2	Pathogenic	13	32944686	32944702	CCCTATACAGGTATGATG	C	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.8900del (p.Thr2967fs)	BRCA2	Pathogenic	13	32953599	32953599	AC	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.8954-2_8959del	BRCA2	Pathogenic/Likely pathogenic	13	32953883	32953890	AACAGTTAT	A	criteria provided, multiple submitters, no conflicts	-