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.3202del (p.Val1068fs)	BRCA2	Pathogenic	13	32911694	32911694	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3430&base_change=del G,ClinGen:CA017531
Deletion	NM_000059.4(BRCA2):c.3228_3229del (p.Val1077fs)	BRCA2	Pathogenic	13	32911720	32911721	TAG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3456&base_change=del AG,ClinGen:CA017590
Deletion	NM_000059.4(BRCA2):c.3235del (p.Ser1079fs)	BRCA2	Pathogenic	13	32911725	32911725	GT	G	reviewed by expert panel	ClinGen:CA017602
Deletion	NM_000059.4(BRCA2):c.3262_3263del (p.Pro1088fs)	BRCA2	Pathogenic	13	32911752	32911753	ACC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3490&base_change=del CC,ClinGen:CA017641
Insertion	NM_000059.4(BRCA2):c.3264_3265insTT (p.Gln1089fs)	BRCA2	Pathogenic	13	32911755	32911756	C	CTT	reviewed by expert panel	ClinGen:CA017657
single nucleotide variant	NM_000059.4(BRCA2):c.3265C>T (p.Gln1089Ter)	BRCA2	Pathogenic	13	32911757	32911757	C	T	reviewed by expert panel	ClinGen:CA017668
Deletion	NM_000059.4(BRCA2):c.3267_3268del (p.Gln1089fs)	BRCA2	Pathogenic	13	32911758	32911759	CAG	C	reviewed by expert panel	ClinGen:CA017674
Deletion	NM_000059.4(BRCA2):c.3269del (p.Met1090fs)	BRCA2	Pathogenic	13	32911761	32911761	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3497&base_change=del T,ClinGen:CA017683
Deletion	NM_000059.4(BRCA2):c.3273_3276del (p.Leu1091fs)	BRCA2	Pathogenic	13	32911763	32911766	GTTAT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3501&base_change=del ATTT,ClinGen:CA017689
Deletion	NM_000059.4(BRCA2):c.3277del (p.Ser1093fs)	BRCA2	Pathogenic	13	32911766	32911766	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3505&base_change=del T,ClinGen:CA017695