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.81-?_4986+?del	BRCA1	Pathogenic	17	41222945	41267796	na	na	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.3(BRCA1):c.442-?_593+?del	BRCA1	Pathogenic	17	41249261	41251897	na	na	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.3(BRCA1):c.442-?_547+?del	BRCA1	Pathogenic	17	41251792	41251897	na	na	criteria provided, multiple submitters, no conflicts	LOVD 3:BRCA1_001109
Deletion	NM_007294.3(BRCA1):c.-19-?_80+?del	BRCA1	Pathogenic	17	41276034	41276132	na	na	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.3(BRCA1):c.442-?_4357+?del	BRCA1	Pathogenic	17	41234421	41251897	na	na	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.120_123del (p.Pro41fs)	BRCA2	Pathogenic	13	32893264	32893267	TCCAC	T	reviewed by expert panel	ClinGen:CA10586479
Duplication	NM_000059.4(BRCA2):c.204dup (p.Pro69fs)	BRCA2	Pathogenic	13	32893347	32893348	G	GA	reviewed by expert panel	ClinGen:CA10586480
Deletion	NM_000059.4(BRCA2):c.391del (p.Ser131fs)	BRCA2	Pathogenic	13	32899285	32899285	GT	G	reviewed by expert panel	ClinGen:CA019091
Deletion	NM_000059.4(BRCA2):c.419del (p.Ser140fs)	BRCA2	Pathogenic	13	32899315	32899315	AG	A	reviewed by expert panel	ClinGen:CA10586481
Deletion	NM_000059.4(BRCA2):c.486del (p.Ser163fs)	BRCA2	Pathogenic	13	32900387	32900387	TG	T	reviewed by expert panel	ClinGen:CA020912