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.8420C>A (p.Ser2807Ter)	BRCA2	Pathogenic	13	32944627	32944627	C	A	reviewed by expert panel	ClinGen:CA336160
Deletion	NM_007294.3(BRCA1):c.4987-?_5193+?del	BRCA1	Pathogenic	17	41215350	41219712	na	na	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.3(BRCA1):c.4186-?_5193+?del	BRCA1	Pathogenic	17	41215350	41234592	na	na	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.3(BRCA1):c.4676-?_5074+?del	BRCA1	Pathogenic	17	41219625	41223255	na	na	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.3(BRCA1):c.(?_-1)_5074+?del	BRCA1	Pathogenic	17	41219625	41276114	na	na	criteria provided, single submitter	-
Deletion	NM_007294.3(BRCA1):c.4358-?_4484+?del	BRCA1	Pathogenic	17	41228505	41228631	na	na	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007294.4(BRCA1):c.4474G>T (p.Gly1492Ter)	BRCA1	Pathogenic	17	41228515	41228515	C	A	reviewed by expert panel	ClinGen:CA337710
Duplication	NM_007294.4(BRCA1):c.2043dup (p.Asn682Ter)	BRCA1	Pathogenic	17	41245504	41245505	T	TA	reviewed by expert panel	ClinGen:CA338150
Deletion	NM_007294.4(BRCA1):c.490del (p.Thr164fs)	BRCA1	Pathogenic	17	41251849	41251849	GT	G	reviewed by expert panel	ClinGen:CA337000
single nucleotide variant	NM_058216.3(RAD51C):c.905-2A>C	RAD51C	Pathogenic/Likely pathogenic	17	56801399	56801399	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA338869