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_000059.3(BRCA2):c.(?_-1)_67+?del	BRCA2	Pathogenic	13	32890470	32890470	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.-39-2A>G	BRCA2	Pathogenic/Likely pathogenic	13	32890557	32890557	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509354
Deletion	NM_000059.4(BRCA2):c.-39-1_-39del	BRCA2	Likely pathogenic	13	32890557	32890558	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA6940297
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
Deletion	NM_000059.4(BRCA2):c.3del (p.Met1fs)	BRCA2	Pathogenic	13	32890600	32890600	TG	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):231&base_change=del G,ClinGen:CA019358
single nucleotide variant	NM_000059.4(BRCA2):c.3G>A (p.Met1Ile)	BRCA2	Pathogenic	13	32890600	32890600	G	A	reviewed by expert panel	ClinGen:CA019362