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
Indel	NM_007294.4(BRCA1):c.796_807delinsA (p.Val266fs)	BRCA1	Pathogenic	17	41246741	41246752	CAAGTTTGAAAC	T	reviewed by expert panel	ClinGen:CA16615785
Duplication	NM_058216.3(RAD51C):c.525dup (p.Cys176fs)	RAD51C	Pathogenic	17	56774172	56774173	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA8677251
single nucleotide variant	NM_000059.4(BRCA2):c.4983T>G (p.Tyr1661Ter)	BRCA2	Pathogenic	13	32913475	32913475	T	G	reviewed by expert panel	ClinGen:CA16616709
Deletion	NM_007294.4(BRCA1):c.5534del (p.Tyr1845fs)	BRCA1	Pathogenic	17	41197753	41197753	GT	G	reviewed by expert panel	ClinGen:CA16616882
single nucleotide variant	NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val)	BRCA1	Pathogenic	17	41203103	41203103	C	A	reviewed by expert panel	ClinGen:CA10590929
Deletion	NM_007294.4(BRCA1):c.4972del (p.Thr1658fs)	BRCA1	Pathogenic	17	41222959	41222959	GT	G	reviewed by expert panel	ClinGen:CA16616883
Deletion	NM_007294.4(BRCA1):c.3835del (p.Ala1279fs)	BRCA1	Pathogenic	17	41243713	41243713	GC	G	reviewed by expert panel	ClinGen:CA16616884
Deletion	NM_007294.4(BRCA1):c.3644_3648del (p.Asn1215fs)	BRCA1	Pathogenic	17	41243900	41243904	ATAAGT	A	reviewed by expert panel	ClinGen:CA16616885
Duplication	NM_007294.4(BRCA1):c.2257dup (p.Ser753fs)	BRCA1	Pathogenic	17	41245290	41245291	C	CT	reviewed by expert panel	ClinGen:CA16616886
single nucleotide variant	NM_007294.4(BRCA1):c.2185G>T (p.Glu729Ter)	BRCA1	Pathogenic	17	41245363	41245363	C	A	reviewed by expert panel	ClinGen:CA10597633