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	NC_000013.11:g.(?_32316455)_(32325190_?)del	BRCA2	Pathogenic	13	32890592	32899327	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32330913)_(32331036_?)del	BRCA2	Pathogenic	13	32905050	32905173	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32354855)_(32357935_?)del	BRCA2	Likely pathogenic	13	32928992	32932072	na	na	criteria provided, single submitter	-
Duplication	NC_000013.10:g.(?_32928992)_(32954288_?)dup	BRCA2	Likely pathogenic	13	32928992	32954288	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.414T>A (p.Cys138Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32899310	32899310	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA387756754
single nucleotide variant	NM_000059.4(BRCA2):c.1402A>T (p.Arg468Ter)	BRCA2	Pathogenic	13	32907017	32907017	A	T	criteria provided, single submitter	ClinGen:CA387764159
Insertion	NM_000059.4(BRCA2):c.1572_1573insCC (p.Thr525fs)	BRCA2	Pathogenic	13	32907187	32907188	G	GCC	criteria provided, single submitter	ClinGen:CA658656338
Indel	NM_000059.3(BRCA2):c.1889_1890delinsGGG (p.Thr630fs)	BRCA2	Pathogenic	13	32907504	32907505	CA	GGG	criteria provided, single submitter	ClinGen:CA658656346
Deletion	NM_000059.4(BRCA2):c.2884_2908del (p.His962fs)	BRCA2	Pathogenic	13	32911374	32911398	CAGCATATAAAAATGACTCTAGGTCA	C	criteria provided, single submitter	ClinGen:CA658656395
Duplication	NM_000059.4(BRCA2):c.3635dup (p.Asn1212fs)	BRCA2	Pathogenic	13	32912123	32912124	G	GA	criteria provided, single submitter	ClinGen:CA658656420