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.8875G>T (p.Glu2959Ter)	BRCA2	Pathogenic	13	32953574	32953574	G	T	reviewed by expert panel	ClinGen:CA025858
Duplication	NM_000059.4(BRCA2):c.8996dup (p.Leu3000fs)	BRCA2	Pathogenic	13	32953928	32953929	C	CT	reviewed by expert panel	ClinGen:CA192553
Deletion	NM_000059.4(BRCA2):c.9025del (p.Tyr3009fs)	BRCA2	Pathogenic	13	32953956	32953956	AT	A	reviewed by expert panel	ClinGen:CA025932
Deletion	NM_000059.4(BRCA2):c.9262del (p.Ala3088fs)	BRCA2	Pathogenic	13	32968831	32968831	TG	T	reviewed by expert panel	ClinGen:CA026071
Indel	NM_000059.4(BRCA2):c.9522_9523delinsAT (p.Asn3174_Glu3175delinsLysTer)	BRCA2	Pathogenic	13	32971055	32971056	TG	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA026197
single nucleotide variant	NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter)	RAD51D	Likely pathogenic	17	33428225	33428225	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA190870
Deletion	NM_002878.4(RAD51D):c.898del (p.Arg300fs)	RAD51D	Likely pathogenic	17	33428225	33428225	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA192195
Deletion	NM_002878.4(RAD51D):c.564del (p.Val189fs)	RAD51D	Pathogenic	17	33433417	33433417	CA	C	criteria provided, single submitter	ClinGen:CA194073
Duplication	NM_002878.4(RAD51D):c.330dup (p.Ser111Ter)	RAD51D	Pathogenic/Likely pathogenic	17	33434399	33434400	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA192851
Deletion	NM_002878.4(RAD51D):c.185_200del (p.Ser62fs)	RAD51D	Pathogenic	17	33445583	33445598	ATTCACGGGGAAAGCCG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA191987