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.6276del (p.His2093fs)	BRCA2	Pathogenic	13	32914767	32914767	CT	C	reviewed by expert panel	ClinGen:CA023810
Deletion	NM_000059.4(BRCA2):c.6280_6286del (p.Tyr2094fs)	BRCA2	Pathogenic	13	32914767	32914773	CTTCACTA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6508&base_change=del TATTCAC,ClinGen:CA023816
Deletion	NM_000059.4(BRCA2):c.6282_6289del (p.Ser2095fs)	BRCA2	Pathogenic	13	32914771	32914778	ACTATTCAC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6510&base_change=del TTCACCTA,ClinGen:CA023821
Deletion	NM_000059.4(BRCA2):c.6302del (p.Asn2101fs)	BRCA2	Pathogenic	13	32914791	32914791	CA	C	reviewed by expert panel	ClinGen:CA023840
single nucleotide variant	NM_000059.4(BRCA2):c.6308C>A (p.Ser2103Ter)	BRCA2	Pathogenic	13	32914800	32914800	C	A	reviewed by expert panel	ClinGen:CA023844
single nucleotide variant	NM_000059.4(BRCA2):c.631+2T>C	BRCA2	Likely pathogenic	13	32900752	32900752	T	C	criteria provided, single submitter	ClinGen:CA023850
single nucleotide variant	NM_000059.4(BRCA2):c.631+3A>G	BRCA2	Pathogenic/Likely pathogenic	13	32900753	32900753	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA023855
single nucleotide variant	NM_000059.4(BRCA2):c.631G>A (p.Val211Ile)	BRCA2	Pathogenic	13	32900750	32900750	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023869
single nucleotide variant	NM_000059.4(BRCA2):c.632-1G>A	BRCA2	Pathogenic	13	32903579	32903579	G	A	reviewed by expert panel	ClinGen:CA023882
single nucleotide variant	NM_000059.4(BRCA2):c.632-2A>G	BRCA2	Pathogenic	13	32903578	32903578	A	G	reviewed by expert panel	ClinGen:CA023891