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.9431del (p.Ser3144fs)	BRCA2	Pathogenic	13	32969000	32969000	TC	T	reviewed by expert panel	ClinGen:CA026153
Deletion	NM_000059.4(BRCA2):c.9458del (p.Gly3153fs)	BRCA2	Pathogenic	13	32969025	32969025	AG	A	reviewed by expert panel	ClinGen:CA026166
Indel	NM_000059.4(BRCA2):c.9463_9467delinsGAATGATC (p.Phe3155_Gln3156delinsGluTer)	BRCA2	Pathogenic	13	32969032	32969036	TTTCA	GAATGATC	reviewed by expert panel	ClinGen:CA026169
single nucleotide variant	NM_000059.4(BRCA2):c.9466C>T (p.Gln3156Ter)	BRCA2	Pathogenic	13	32969035	32969035	C	T	reviewed by expert panel	ClinGen:CA026170
Deletion	NM_000059.4(BRCA2):c.9466del (p.Gln3156fs)	BRCA2	Pathogenic	13	32969035	32969035	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9694&base_change=del C,ClinGen:CA026171
Deletion	NM_000059.4(BRCA2):c.9474del (p.Phe3159fs)	BRCA2	Pathogenic	13	32969043	32969043	CA	C	reviewed by expert panel	ClinGen:CA026173
single nucleotide variant	NM_000059.4(BRCA2):c.9481A>T (p.Lys3161Ter)	BRCA2	Pathogenic	13	32969050	32969050	A	T	reviewed by expert panel	ClinGen:CA026175
Deletion	NM_000059.4(BRCA2):c.9498del (p.Glu3167fs)	BRCA2	Pathogenic	13	32969066	32969066	GT	G	reviewed by expert panel	ClinGen:CA026179
Duplication	NM_000059.4(BRCA2):c.9498dup (p.Glu3167Ter)	BRCA2	Pathogenic	13	32969065	32969066	G	GT	reviewed by expert panel	ClinGen:CA026178
single nucleotide variant	NM_000059.4(BRCA2):c.9501+1G>A	BRCA2	Pathogenic/Likely pathogenic	13	32969071	32969071	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA026182