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_000059.4(BRCA2):c.7926del (p.Phe2642fs)	BRCA2	Pathogenic	13	32936778	32936778	AT	A	reviewed by expert panel	ClinGen:CA025337
single nucleotide variant	NM_000059.4(BRCA2):c.793+1G>A	BRCA2	Pathogenic	13	32905168	32905168	G	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):1021+1&base_change=G to A,ClinGen:CA025342
single nucleotide variant	NM_000059.4(BRCA2):c.793+1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32905168	32905168	G	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):1021+1&base_change=G to T,ClinGen:CA025343
Deletion	NM_000059.4(BRCA2):c.7934del (p.Arg2645fs)	BRCA2	Pathogenic	13	32936788	32936788	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8162&base_change=del G,ClinGen:CA025344
single nucleotide variant	NM_000059.4(BRCA2):c.7940T>C (p.Leu2647Pro)	BRCA2	Pathogenic/Likely pathogenic	13	32936794	32936794	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA025346
Deletion	NM_000059.4(BRCA2):c.7954del (p.Val2652fs)	BRCA2	Pathogenic	13	32936806	32936806	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8182&base_change=del G,ClinGen:CA025353
single nucleotide variant	NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro)	BRCA2	Pathogenic/Likely pathogenic	13	32936812	32936812	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA025354
Deletion	NM_000059.4(BRCA2):c.7963del (p.Gln2655fs)	BRCA2	Pathogenic	13	32936817	32936817	TC	T	reviewed by expert panel	ClinGen:CA025357
single nucleotide variant	NM_000059.4(BRCA2):c.7976+1G>A	BRCA2	Pathogenic	13	32936831	32936831	G	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8204+1&base_change=G to A,ClinGen:CA025364
Deletion	NM_000059.4(BRCA2):c.7976+3_7976+4del	BRCA2	Pathogenic	13	32936833	32936834	CAA	C	criteria provided, single submitter	ClinGen:CA025366