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_058216.3(RAD51C):c.498del (p.Asp167fs)	RAD51C	Pathogenic	17	56774146	56774146	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA8677248
single nucleotide variant	NM_007294.4(BRCA1):c.80G>T (p.Cys27Phe)	BRCA1	Likely pathogenic	17	41276034	41276034	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10601996
Duplication	NM_007294.4(BRCA1):c.706dup (p.Thr236fs)	BRCA1	Pathogenic	17	41246841	41246842	G	GT	criteria provided, single submitter	ClinGen:CA658656636
Deletion	NM_058216.3(RAD51C):c.562_565del (p.Lys188fs)	RAD51C	Pathogenic	17	56774211	56774214	CAAGG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658642
Deletion	NM_058216.3(RAD51C):c.571+1del	RAD51C	Likely pathogenic	17	56774219	56774219	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA627144568
single nucleotide variant	NM_058216.3(RAD51C):c.572-2A>G	RAD51C	Likely pathogenic	17	56780555	56780555	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA8677278
single nucleotide variant	NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter)	BRCA1	Pathogenic	17	41267760	41267760	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10601926
Deletion	NM_058216.3(RAD51C):c.837+1del	RAD51C	Likely pathogenic	17	56787352	56787352	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658647
Deletion	NM_058216.3(RAD51C):c.146-4_146-2del	RAD51C	Likely pathogenic	17	56772288	56772290	TTCA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658633
Duplication	NM_058216.3(RAD51C):c.200_203dup (p.Cys68Ter)	RAD51C	Pathogenic	17	56772344	56772345	A	AGAAT	criteria provided, single submitter	ClinGen:CA658658637