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
Insertion	NM_000059.4(BRCA2):c.7806_7807insAG (p.Ala2603fs)	BRCA2	Pathogenic	13	32936659	32936660	G	GGA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8034&base_change=ins AG,ClinGen:CA025291
single nucleotide variant	NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp)	BRCA2	Likely pathogenic	13	32936680	32936680	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA025300
Deletion	NM_000059.4(BRCA2):c.7846del (p.Ser2616fs)	BRCA2	Pathogenic	13	32936698	32936698	AT	A	reviewed by expert panel	ClinGen:CA025305
Deletion	NM_000059.4(BRCA2):c.7847del (p.Ser2616fs)	BRCA2	Pathogenic	13	32936701	32936701	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8075&base_change=del C,ClinGen:CA025306
single nucleotide variant	NM_000059.4(BRCA2):c.7856G>A (p.Trp2619Ter)	BRCA2	Pathogenic	13	32936710	32936710	G	A	reviewed by expert panel	ClinGen:CA025309
single nucleotide variant	NM_000059.4(BRCA2):c.7863T>A (p.Tyr2621Ter)	BRCA2	Pathogenic	13	32936717	32936717	T	A	reviewed by expert panel	ClinGen:CA025312
single nucleotide variant	NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)	BRCA2	Pathogenic	13	32936733	32936733	A	T	reviewed by expert panel	ClinGen:CA025321
Duplication	NM_000059.4(BRCA2):c.7884dup (p.Trp2629fs)	BRCA2	Pathogenic	13	32936737	32936738	T	TA	reviewed by expert panel	ClinGen:CA025322
single nucleotide variant	NM_000059.4(BRCA2):c.7886G>A (p.Trp2629Ter)	BRCA2	Pathogenic	13	32936740	32936740	G	A	reviewed by expert panel	ClinGen:CA025323
single nucleotide variant	NM_000059.4(BRCA2):c.7908T>A (p.Cys2636Ter)	BRCA2	Pathogenic	13	32936762	32936762	T	A	reviewed by expert panel	ClinGen:CA025327