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_007294.3(BRCA1):c.(?_-1)_134+?del	BRCA1	Pathogenic	17	41267743	41276114	na	na	criteria provided, single submitter	-
Deletion	NM_007294.3(BRCA1):c.(?_-1)_80+?del	BRCA1	Pathogenic	17	41276034	41276114	na	na	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.144del (p.Glu49fs)	BRCA2	Pathogenic	13	32893289	32893289	GA	G	reviewed by expert panel	ClinGen:CA350208
single nucleotide variant	NM_000059.4(BRCA2):c.632-3C>G	BRCA2	Pathogenic/Likely pathogenic	13	32903577	32903577	C	G	reviewed by expert panel	ClinGen:CA348611
single nucleotide variant	NM_000059.4(BRCA2):c.3191C>G (p.Ser1064Ter)	BRCA2	Pathogenic	13	32911683	32911683	C	G	reviewed by expert panel	ClinGen:CA348662
Deletion	NM_000059.4(BRCA2):c.3201del (p.Val1068fs)	BRCA2	Pathogenic	13	32911693	32911693	CT	C	reviewed by expert panel	ClinGen:CA350572
Deletion	NM_000059.4(BRCA2):c.3649del (p.Arg1217fs)	BRCA2	Pathogenic	13	32912141	32912141	TA	T	reviewed by expert panel	ClinGen:CA348063
single nucleotide variant	NM_000059.4(BRCA2):c.5016C>G (p.Tyr1672Ter)	BRCA2	Pathogenic	13	32913508	32913508	C	G	reviewed by expert panel	ClinGen:CA348640
single nucleotide variant	NM_000059.4(BRCA2):c.6254T>G (p.Leu2085Ter)	BRCA2	Pathogenic	13	32914746	32914746	T	G	reviewed by expert panel	ClinGen:CA348847
Duplication	NM_000059.4(BRCA2):c.6998dup (p.Pro2334fs)	BRCA2	Pathogenic	13	32921023	32921024	G	GT	reviewed by expert panel	ClinGen:CA348970