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
Indel	NM_000059.4(BRCA2):c.8902_8913delinsTCCC (p.Thr2968fs)	BRCA2	Pathogenic	13	32953601	32953612	ACCGTGTGGAAG	TCCC	reviewed by expert panel	ClinGen:CA348803
single nucleotide variant	NM_000059.4(BRCA2):c.8987T>A (p.Leu2996Ter)	BRCA2	Pathogenic	13	32953920	32953920	T	A	reviewed by expert panel	ClinGen:CA348592
single nucleotide variant	NM_000059.4(BRCA2):c.9027T>G (p.Tyr3009Ter)	BRCA2	Pathogenic	13	32953960	32953960	T	G	reviewed by expert panel	ClinGen:CA349539
Deletion	NM_007294.3(BRCA1):c.5407-?_*(1_?)del	BRCA1	Pathogenic	17	41197694	41199720	na	na	criteria provided, single submitter	-
Deletion	NM_007294.3(BRCA1):c.548-?_4185+?del	BRCA1	Pathogenic	17	41242961	41249306	na	na	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_058216.1(RAD51C):c.(?_-1)_837+?del	RAD51C	Pathogenic	17	56770004	56787351	na	na	criteria provided, single submitter	-
Deletion	NM_058216.1(RAD51C):c.572-?_(*1_?)del	RAD51C	Pathogenic	17	56780557	56811584	na	na	criteria provided, single submitter	-
Deletion	NM_058216.2(RAD51C):c.572-?_*120del	RAD51C	Pathogenic	17	56780557	56811703	na	na	criteria provided, single submitter	-
Deletion	NM_058216.2(RAD51C):c.706-?_*120del	RAD51C	Pathogenic	17	56787220	56811703	na	na	criteria provided, single submitter	-
Deletion	NM_058216.1(RAD51C):c.966-?_1026+?del	RAD51C	Pathogenic	17	56809845	56809905	na	na	criteria provided, single submitter	-