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
Deletion	NM_000059.4(BRCA2):c.7683_7684del (p.Gln2561fs)	BRCA2	Pathogenic	13	32931944	32931945	AGT	A	reviewed by expert panel	ClinGen:CA6941131
Deletion	NM_000059.4(BRCA2):c.7706del (p.Gly2569fs)	BRCA2	Pathogenic	13	32931966	32931966	TG	T	reviewed by expert panel	ClinGen:CA10586580
Deletion	NM_000059.4(BRCA2):c.7858del (p.Val2620fs)	BRCA2	Pathogenic	13	32936710	32936710	TG	T	reviewed by expert panel	ClinGen:CA10586581
single nucleotide variant	NM_000059.4(BRCA2):c.7921G>T (p.Glu2641Ter)	BRCA2	Pathogenic	13	32936775	32936775	G	T	reviewed by expert panel	ClinGen:CA10586582
Deletion	NM_000059.4(BRCA2):c.7951del (p.Arg2651fs)	BRCA2	Pathogenic	13	32936803	32936803	GA	G	reviewed by expert panel	ClinGen:CA10586583
single nucleotide variant	NM_000059.4(BRCA2):c.7987G>T (p.Glu2663Ter)	BRCA2	Pathogenic	13	32937326	32937326	G	T	reviewed by expert panel	ClinGen:CA10586584
Deletion	NM_000059.4(BRCA2):c.7990del (p.Ile2664fs)	BRCA2	Pathogenic	13	32937327	32937327	GA	G	reviewed by expert panel	ClinGen:CA10586585
Deletion	NM_000059.4(BRCA2):c.8012_8034del (p.Ala2671fs)	BRCA2	Pathogenic	13	32937349	32937371	CGGCTATAAAAAAGATAATGGAAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8238&base_change=del 23,ClinGen:CA025403
Deletion	NM_000059.4(BRCA2):c.8022_8023del (p.Lys2674fs)	BRCA2	Pathogenic	13	32937360	32937361	AAG	A	reviewed by expert panel	ClinGen:CA10586586
single nucleotide variant	NM_000059.4(BRCA2):c.8178T>A (p.Tyr2726Ter)	BRCA2	Pathogenic	13	32937517	32937517	T	A	reviewed by expert panel	ClinGen:CA10586587