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.5978T>G (p.Leu1993Ter)	BRCA2	Pathogenic	13	32914470	32914470	T	G	reviewed by expert panel	ClinGen:CA6940920
Deletion	NM_000059.4(BRCA2):c.5993_5994del (p.Gln1998fs)	BRCA2	Pathogenic	13	32914485	32914486	CAA	C	reviewed by expert panel	ClinGen:CA10586548
Deletion	NM_000059.4(BRCA2):c.6008del (p.Ile2003fs)	BRCA2	Pathogenic	13	32914500	32914500	AT	A	reviewed by expert panel	ClinGen:CA10586549
Deletion	NM_000059.4(BRCA2):c.6092del (p.Thr2031fs)	BRCA2	Pathogenic	13	32914584	32914584	AC	A	reviewed by expert panel	ClinGen:CA10586550
Deletion	NM_000059.4(BRCA2):c.6109_6113del (p.Glu2037fs)	BRCA2	Pathogenic	13	32914599	32914603	CCAGAA	C	reviewed by expert panel	ClinGen:CA10586551
Deletion	NM_000059.4(BRCA2):c.6136del (p.Ser2046fs)	BRCA2	Pathogenic	13	32914625	32914625	CT	C	reviewed by expert panel	ClinGen:CA10586552
Deletion	NM_000059.4(BRCA2):c.6152del (p.Asn2051fs)	BRCA2	Pathogenic	13	32914642	32914642	TA	T	reviewed by expert panel	ClinGen:CA10586553
Deletion	NM_000059.4(BRCA2):c.6239del (p.Val2079_Leu2080insTer)	BRCA2	Pathogenic	13	32914730	32914730	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6466&base_change=del T,ClinGen:CA023779
Duplication	NM_000059.4(BRCA2):c.6277dup (p.His2093fs)	BRCA2	Pathogenic	13	32914768	32914769	T	TC	reviewed by expert panel	ClinGen:CA10586554
Deletion	NM_000059.4(BRCA2):c.6361_6362del (p.Glu2121fs)	BRCA2	Pathogenic	13	32914852	32914853	CAG	C	reviewed by expert panel	ClinGen:CA10586555