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_058216.3(RAD51C):c.905-2A>G	RAD51C	Pathogenic	17	56801399	56801399	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584582
Indel	NM_000059.3(BRCA2):c.81_83delinsTAAGACT (p.Ser28fs)	BRCA2	Pathogenic	13	32893227	32893229	AAG	TAAGACT	reviewed by expert panel	ClinGen:CA10585890
single nucleotide variant	NM_000059.4(BRCA2):c.889G>T (p.Glu297Ter)	BRCA2	Pathogenic	13	32906504	32906504	G	T	reviewed by expert panel	ClinGen:CA10585891
Deletion	NM_000059.4(BRCA2):c.3422del (p.Thr1141fs)	BRCA2	Pathogenic	13	32911914	32911914	AC	A	reviewed by expert panel	ClinGen:CA10585893
single nucleotide variant	NM_000059.4(BRCA2):c.3883C>T (p.Gln1295Ter)	BRCA2	Pathogenic	13	32912375	32912375	C	T	reviewed by expert panel	ClinGen:CA10585895
Deletion	NM_000059.4(BRCA2):c.6815_6816del (p.Arg2272fs)	BRCA2	Pathogenic	13	32915306	32915307	AAG	A	reviewed by expert panel	ClinGen:CA10585897
Deletion	NM_000059.4(BRCA2):c.6980del (p.Ser2326_Leu2327insTer)	BRCA2	Pathogenic	13	32921004	32921004	CT	C	reviewed by expert panel	ClinGen:CA10585898
Deletion	NM_007294.4(BRCA1):c.5524_5531del (p.Val1842fs)	BRCA1	Pathogenic	17	41197756	41197763	GAGTGCTAC	G	reviewed by expert panel	ClinGen:CA10585905
single nucleotide variant	NM_007294.4(BRCA1):c.5075-2A>G	BRCA1	Pathogenic	17	41215970	41215970	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10585907
Deletion	NM_007294.4(BRCA1):c.5050_5051del (p.Thr1684fs)	BRCA1	Pathogenic	17	41219648	41219649	AGT	A	reviewed by expert panel	ClinGen:CA10585908