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_007294.4(BRCA1):c.1488del (p.Leu498fs)	BRCA1	Pathogenic	17	41246060	41246060	GA	G	reviewed by expert panel	ClinGen:CA000998
Duplication	NM_000059.4(BRCA2):c.2570dup (p.Arg858fs)	BRCA2	Pathogenic	13	32911061	32911062	C	CT	reviewed by expert panel	ClinGen:CA167960
single nucleotide variant	NM_000059.4(BRCA2):c.3296C>A (p.Ser1099Ter)	BRCA2	Pathogenic	13	32911788	32911788	C	A	reviewed by expert panel	ClinGen:CA017728
Deletion	NM_000059.4(BRCA2):c.9194_9195del (p.Phe3065fs)	BRCA2	Pathogenic	13	32954219	32954220	CTT	C	reviewed by expert panel	ClinGen:CA026025
Duplication	NM_007294.4(BRCA1):c.4799dup (p.Leu1600fs)	BRCA1	Pathogenic	17	41223131	41223132	C	CA	reviewed by expert panel	ClinGen:CA003027
single nucleotide variant	NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter)	RAD51C	Pathogenic	17	56770101	56770101	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA294435
Deletion	NM_058216.3(RAD51C):c.158del (p.Ser53fs)	RAD51C	Pathogenic	17	56772304	56772304	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA168674
single nucleotide variant	NM_000059.4(BRCA2):c.5159C>A (p.Ser1720Ter)	BRCA2	Pathogenic	13	32913651	32913651	C	A	reviewed by expert panel	ClinGen:CA021429
Deletion	NM_000059.4(BRCA2):c.5386_5387del (p.Asp1796fs)	BRCA2	Pathogenic	13	32913877	32913878	AAG	A	reviewed by expert panel	ClinGen:CA022186
Deletion	NM_000059.4(BRCA2):c.5470_5471del (p.Asn1824fs)	BRCA2	Pathogenic	13	32913959	32913960	TAA	T	reviewed by expert panel	ClinGen:CA022385