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.(?_32316422)_(32319325_?)del	BRCA2	Pathogenic	13	32890559	32893462	na	na	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.-5_11del (p.Met1fs)	BRCA2	Pathogenic	13	32890591	32890606	AGGTAAAAATGCCTATT	A	criteria provided, single submitter	ClinGen:CA645509355
Deletion	NC_000013.11:g.(?_32316455)_(32325190_?)del	BRCA2	Pathogenic	13	32890592	32899327	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32316455)_(32357935_?)del	BRCA2	Pathogenic	13	32890592	32932072	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32316455)_(32326288_?)del	BRCA2	Pathogenic	13	32890592	32900425	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.1A>G (p.Met1Val)	BRCA2	Pathogenic	13	32890598	32890598	A	G	criteria provided, single submitter	ClinGen:CA335967
single nucleotide variant	NM_000059.4(BRCA2):c.2T>C (p.Met1Thr)	BRCA2	Pathogenic/Likely pathogenic	13	32890599	32890599	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA017005
single nucleotide variant	NM_000059.4(BRCA2):c.2T>G (p.Met1Arg)	BRCA2	Pathogenic	13	32890599	32890599	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA017013
single nucleotide variant	NM_000059.4(BRCA2):c.2T>A (p.Met1Lys)	BRCA2	Pathogenic/Likely pathogenic	13	32890599	32890599	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA387752876
single nucleotide variant	NM_000059.4(BRCA2):c.3G>T (p.Met1Ile)	BRCA2	Pathogenic	13	32890600	32890600	G	T	criteria provided, single submitter	ClinGen:CA019369