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.45del (p.Asn16fs)	BRCA1	Pathogenic	17	41276069	41276069	TA	T	reviewed by expert panel	ClinGen:CA002922
Deletion	NM_058216.3(RAD51C):c.93del (p.Phe32fs)	RAD51C	Pathogenic	17	56770094	56770094	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA333753,OMIM:602774.0007
Duplication	NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter)	RAD51C	Pathogenic	17	56772369	56772370	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA333752
Duplication	NM_058216.3(RAD51C):c.394dup (p.Thr132fs)	RAD51C	Pathogenic	17	56772535	56772536	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA299907
single nucleotide variant	NM_058216.3(RAD51C):c.404+2T>C	RAD51C	Pathogenic/Likely pathogenic	17	56772552	56772552	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA299885
Deletion	NM_058216.3(RAD51C):c.905-3_906del	RAD51C	Pathogenic/Likely pathogenic	17	56801398	56801402	TCAGGG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA299908
single nucleotide variant	NM_058216.3(RAD51C):c.965+1G>A	RAD51C	Likely pathogenic	17	56801462	56801462	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA299893
Duplication	NM_002878.4(RAD51D):c.326dup (p.Gly110fs)	RAD51D	Pathogenic	17	33434403	33434404	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA202749
single nucleotide variant	NM_000059.4(BRCA2):c.712G>T (p.Glu238Ter)	BRCA2	Pathogenic	13	32905086	32905086	G	T	reviewed by expert panel	ClinGen:CA024893
Deletion	NM_000059.4(BRCA2):c.5390del (p.Ala1797fs)	BRCA2	Pathogenic	13	32913882	32913882	GC	G	reviewed by expert panel	ClinGen:CA022210