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.8009C>A (p.Ser2670Ter)	BRCA2	Pathogenic	13	32937348	32937348	C	A	reviewed by expert panel	ClinGen:CA025400
single nucleotide variant	NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)	BRCA2	Pathogenic/Likely pathogenic	13	32937348	32937348	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA025401
Deletion	NM_000059.4(BRCA2):c.8020_8021del (p.Lys2674fs)	BRCA2	Pathogenic	13	32937355	32937356	TAA	T	reviewed by expert panel	ClinGen:CA025408
Deletion	NM_000059.4(BRCA2):c.8021del (p.Lys2674fs)	BRCA2	Pathogenic	13	32937355	32937355	TA	T	reviewed by expert panel	ClinGen:CA025409
single nucleotide variant	NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)	BRCA2	Pathogenic	13	32937362	32937362	A	G	reviewed by expert panel	ClinGen:CA025410
Deletion	NM_000059.4(BRCA2):c.8029_8030del (p.Glu2677fs)	BRCA2	Pathogenic	13	32937368	32937369	GGA	G	reviewed by expert panel	ClinGen:CA025412
Deletion	NM_000059.4(BRCA2):c.8029del (p.Glu2677fs)	BRCA2	Pathogenic	13	32937367	32937367	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8257&base_change=del G,ClinGen:CA025413
Duplication	NM_000059.4(BRCA2):c.8032_8033dup (p.Asp2679fs)	BRCA2	Pathogenic	13	32937370	32937371	A	AAG	reviewed by expert panel	ClinGen:CA025415
Duplication	NM_000059.4(BRCA2):c.8047_8054dup (p.Leu2686fs)	BRCA2	Pathogenic	13	32937385	32937386	T	TGCAAAAAC	reviewed by expert panel	ClinGen:CA025424
Deletion	NM_000059.4(BRCA2):c.8053del (p.Thr2685fs)	BRCA2	Pathogenic	13	32937388	32937388	CA	C	reviewed by expert panel	ClinGen:CA025423