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_000059.4(BRCA2):c.8608C>T (p.Gln2870Ter)	BRCA2	Pathogenic	13	32945213	32945213	C	T	reviewed by expert panel	ClinGen:CA025733
Deletion	NM_000059.4(BRCA2):c.5557del (p.Cys1853fs)	BRCA2	Pathogenic	13	32914047	32914047	GT	G	reviewed by expert panel	ClinGen:CA022568
Deletion	NM_000059.4(BRCA2):c.3176_3177del (p.Leu1059fs)	BRCA2	Pathogenic	13	32911668	32911669	CTG	C	reviewed by expert panel	ClinGen:CA017476
single nucleotide variant	NM_000059.4(BRCA2):c.7777G>T (p.Gly2593Ter)	BRCA2	Pathogenic	13	32932038	32932038	G	T	reviewed by expert panel	ClinGen:CA025271
single nucleotide variant	NM_058216.3(RAD51C):c.405-1G>C	RAD51C	Likely pathogenic	17	56774053	56774053	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA333229
single nucleotide variant	NM_000059.4(BRCA2):c.2312T>G (p.Leu771Ter)	BRCA2	Pathogenic	13	32910804	32910804	T	G	reviewed by expert panel	ClinGen:CA014913
Duplication	NM_007294.4(BRCA1):c.4655dup (p.Tyr1552Ter)	BRCA1	Pathogenic	17	41226367	41226368	G	GT	reviewed by expert panel	ClinGen:CA166927
Deletion	NM_000059.4(BRCA2):c.5583del (p.Lys1861_Val1862insTer)	BRCA2	Pathogenic	13	32914070	32914070	TA	T	reviewed by expert panel	ClinGen:CA022633
Deletion	NM_058216.3(RAD51C):c.186_187del (p.Gln62fs)	RAD51C	Pathogenic	17	56772331	56772332	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA167077
Indel	NM_000059.4(BRCA2):c.8954-1_8955delinsAA	BRCA2	Pathogenic	13	32953886	32953888	GTT	AA	reviewed by expert panel	ClinGen:CA167382