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.3018del (p.Gly1007fs)	BRCA2	Pathogenic	13	32911510	32911510	GA	G	reviewed by expert panel	ClinGen:CA017059
single nucleotide variant	NM_000059.4(BRCA2):c.3043A>T (p.Lys1015Ter)	BRCA2	Pathogenic	13	32911535	32911535	A	T	reviewed by expert panel	ClinGen:CA017082
Deletion	NM_000059.4(BRCA2):c.3051del (p.Lys1018fs)	BRCA2	Pathogenic	13	32911543	32911543	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3279&base_change=del C,ClinGen:CA017092
Duplication	NM_000059.4(BRCA2):c.3068dup (p.Asn1023fs)	BRCA2	Pathogenic	13	32911558	32911559	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3295&base_change=ins A,ClinGen:CA017127,OMIM:600185.0011
Duplication	NM_000059.4(BRCA2):c.306dup (p.Leu103fs)	BRCA2	Pathogenic	13	32893449	32893450	C	CA	reviewed by expert panel	ClinGen:CA017123
single nucleotide variant	NM_000059.4(BRCA2):c.3076A>T (p.Lys1026Ter)	BRCA2	Pathogenic	13	32911568	32911568	A	T	reviewed by expert panel	ClinGen:CA017194
Indel	NM_000059.4(BRCA2):c.3096_3110delinsT (p.Lys1032fs)	BRCA2	Pathogenic	13	32911588	32911602	AGATATTGAAGAACA	T	reviewed by expert panel	ClinGen:CA017232
single nucleotide variant	NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter)	BRCA2	Pathogenic	13	32911595	32911595	G	T	reviewed by expert panel	ClinGen:CA017241
Deletion	NM_000059.4(BRCA2):c.3146del (p.Asn1049fs)	BRCA2	Pathogenic	13	32911636	32911636	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):3374&base_change=del A,ClinGen:CA017299
single nucleotide variant	NM_000059.4(BRCA2):c.314T>G (p.Leu105Ter)	BRCA2	Pathogenic	13	32893460	32893460	T	G	reviewed by expert panel	ClinGen:CA017305