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.404G>A (p.Cys135Tyr)	RAD51C	Pathogenic/Likely pathogenic	17	56772550	56772550	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8677207
single nucleotide variant	NM_058216.3(RAD51C):c.705+1G>A	RAD51C	Likely pathogenic	17	56780691	56780691	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580748
single nucleotide variant	NM_058216.3(RAD51C):c.837+1G>A	RAD51C	Pathogenic	17	56787352	56787352	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8677333,OMIM:602774.0008
Deletion	NM_058216.3(RAD51C):c.905-2del	RAD51C	Pathogenic/Likely pathogenic	17	56801399	56801399	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580755
single nucleotide variant	NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter)	RAD51C	Pathogenic/Likely pathogenic	17	56801410	56801410	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580757
single nucleotide variant	NM_058216.3(RAD51C):c.1005C>A (p.Cys335Ter)	RAD51C	Likely pathogenic	17	56809884	56809884	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8677385
Deletion	NM_000059.4(BRCA2):c.160_161del (p.Asn54fs)	BRCA2	Pathogenic	13	32893303	32893304	TAA	T	reviewed by expert panel	ClinGen:CA10581584
single nucleotide variant	NM_000059.4(BRCA2):c.682-2A>G	BRCA2	Pathogenic	13	32905054	32905054	A	G	reviewed by expert panel	ClinGen:CA10581585
Deletion	NM_000059.4(BRCA2):c.1906del (p.Ser636fs)	BRCA2	Pathogenic	13	32907520	32907520	AT	A	reviewed by expert panel	ClinGen:CA10581586
Indel	NM_000059.3(BRCA2):c.4391_4393delinsTT (p.Ser1464fs)	BRCA2	Pathogenic	13	32912883	32912885	CTG	TT	reviewed by expert panel	ClinGen:CA10581587