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
single nucleotide variant	NM_000059.4(BRCA2):c.2881C>T (p.Gln961Ter)	BRCA2	Pathogenic	13	32911373	32911373	C	T	reviewed by expert panel	ClinGen:CA016668
single nucleotide variant	NM_000059.4(BRCA2):c.289G>T (p.Glu97Ter)	BRCA2	Pathogenic	13	32893435	32893435	G	T	reviewed by expert panel	ClinGen:CA016722
single nucleotide variant	NM_000059.4(BRCA2):c.2912T>G (p.Leu971Ter)	BRCA2	Pathogenic	13	32911404	32911404	T	G	reviewed by expert panel	ClinGen:CA016757
single nucleotide variant	NM_000059.4(BRCA2):c.2950G>T (p.Glu984Ter)	BRCA2	Pathogenic	13	32911442	32911442	G	T	reviewed by expert panel	ClinGen:CA016874
Duplication	NM_000059.4(BRCA2):c.2957dup (p.Asn986fs)	BRCA2	Pathogenic	13	32911442	32911443	G	GA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3185&base_change=ins A,ClinGen:CA016881
single nucleotide variant	NM_000059.4(BRCA2):c.298A>T (p.Lys100Ter)	BRCA2	Pathogenic	13	32893444	32893444	A	T	reviewed by expert panel	ClinGen:CA016977
single nucleotide variant	NM_000059.4(BRCA2):c.2990T>A (p.Leu997Ter)	BRCA2	Pathogenic	13	32911482	32911482	T	A	reviewed by expert panel	ClinGen:CA016989
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
Duplication	NM_000059.4(BRCA2):c.3014_3015dup (p.Gly1006fs)	BRCA2	Pathogenic	13	32911503	32911504	G	GTT	reviewed by expert panel	ClinGen:CA017053