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
Duplication	NM_000059.4(BRCA2):c.8053dup (p.Thr2685fs)	BRCA2	Pathogenic	13	32937387	32937388	C	CA	reviewed by expert panel	ClinGen:CA025422
single nucleotide variant	NM_000059.4(BRCA2):c.8057T>C (p.Leu2686Pro)	BRCA2	Pathogenic/Likely pathogenic	13	32937396	32937396	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA025427
Deletion	NM_000059.4(BRCA2):c.8058del (p.Val2687fs)	BRCA2	Pathogenic	13	32937396	32937396	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8286&base_change=del T,ClinGen:CA025428
single nucleotide variant	NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter)	BRCA2	Pathogenic	13	32937406	32937406	T	A	reviewed by expert panel	ClinGen:CA025435
Deletion	NM_000059.4(BRCA2):c.8067del (p.Cys2689fs)	BRCA2	Pathogenic	13	32937406	32937406	GT	G	reviewed by expert panel	ClinGen:CA025434,Breast Cancer Information Core (BIC) (BRCA2):8295&base_change=del T
Duplication	NM_000059.4(BRCA2):c.8070_8071dup (p.Ser2691fs)	BRCA2	Pathogenic	13	32937407	32937408	G	GTT	reviewed by expert panel	ClinGen:CA025438
Deletion	NM_000059.4(BRCA2):c.8072_8073del (p.Val2690_Ser2691insTer)	BRCA2	Pathogenic	13	32937410	32937411	TTC	T	reviewed by expert panel	ClinGen:CA025439
single nucleotide variant	NM_000059.4(BRCA2):c.8084C>G (p.Ser2695Ter)	BRCA2	Pathogenic	13	32937423	32937423	C	G	reviewed by expert panel	ClinGen:CA025443
single nucleotide variant	NM_000059.4(BRCA2):c.8087T>A (p.Leu2696Ter)	BRCA2	Pathogenic	13	32937426	32937426	T	A	reviewed by expert panel	ClinGen:CA025447
Deletion	NM_000059.4(BRCA2):c.8087del (p.Ser2695_Leu2696insTer)	BRCA2	Pathogenic	13	32937425	32937425	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8315&base_change=del T,ClinGen:CA025446