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.2658_2659dup (p.Glu887fs)	BRCA2	Pathogenic	13	32911149	32911150	A	ATG	reviewed by expert panel	ClinGen:CA6940622
single nucleotide variant	NM_000059.4(BRCA2):c.2905C>T (p.Gln969Ter)	BRCA2	Pathogenic	13	32911397	32911397	C	T	reviewed by expert panel	ClinGen:CA10586506
Deletion	NM_000059.4(BRCA2):c.2957del (p.Asn986fs)	BRCA2	Pathogenic	13	32911443	32911443	GA	G	reviewed by expert panel	ClinGen:CA10586507
Deletion	NM_000059.4(BRCA2):c.2961del (p.Asn987fs)	BRCA2	Pathogenic	13	32911453	32911453	AT	A	reviewed by expert panel	ClinGen:CA10586508
single nucleotide variant	NM_000059.4(BRCA2):c.3016G>T (p.Gly1006Ter)	BRCA2	Pathogenic	13	32911508	32911508	G	T	reviewed by expert panel	ClinGen:CA10586509
single nucleotide variant	NM_000059.4(BRCA2):c.3046G>T (p.Glu1016Ter)	BRCA2	Pathogenic	13	32911538	32911538	G	T	reviewed by expert panel	ClinGen:CA6940656
Deletion	NM_000059.4(BRCA2):c.3175del (p.Lys1058_Leu1059insTer)	BRCA2	Pathogenic	13	32911667	32911667	AC	A	reviewed by expert panel	ClinGen:CA10586510
Deletion	NM_000059.4(BRCA2):c.3293del (p.Asn1098fs)	BRCA2	Pathogenic	13	32911784	32911784	TA	T	reviewed by expert panel	ClinGen:CA017716
Deletion	NM_000059.4(BRCA2):c.3295del (p.Ser1099fs)	BRCA2	Pathogenic	13	32911786	32911786	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3522&base_change=del T,ClinGen:CA017723
Duplication	NM_000059.4(BRCA2):c.3455dup (p.Leu1152fs)	BRCA2	Pathogenic	13	32911945	32911946	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3681&base_change=ins T,ClinGen:CA018080