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_007294.4(BRCA1):c.81-2A>C	BRCA1	Pathogenic/Likely pathogenic	17	41267798	41267798	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA003911
Deletion	NM_058216.3(RAD51C):c.97_98del (p.Gln33fs)	RAD51C	Pathogenic/Likely pathogenic	17	56770101	56770102	CCA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA333012
Deletion	NM_007294.4(BRCA1):c.5205del (p.Val1736fs)	BRCA1	Pathogenic	17	41209141	41209141	CT	C	reviewed by expert panel	ClinGen:CA003355
single nucleotide variant	NM_058216.3(RAD51C):c.955C>T (p.Arg319Ter)	RAD51C	Pathogenic	17	56801451	56801451	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA163579
single nucleotide variant	NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)	RAD51C	Pathogenic/Likely pathogenic	17	56780562	56780562	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA333162
single nucleotide variant	NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val)	BRCA2	Pathogenic/Likely pathogenic	13	32937507	32937507	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA025485
Indel	NM_000059.4(BRCA2):c.9256_9256+1delinsTA	BRCA2	Pathogenic/Likely pathogenic	13	32954282	32954283	GG	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA164149
Deletion	NM_007294.4(BRCA1):c.2621del (p.Asn874fs)	BRCA1	Pathogenic	17	41244927	41244927	AT	A	reviewed by expert panel	ClinGen:CA001724
Duplication	NM_007294.4(BRCA1):c.485dup (p.Arg163fs)	BRCA1	Pathogenic	17	41251853	41251854	C	CA	reviewed by expert panel	ClinGen:CA164173
Deletion	NM_000059.4(BRCA2):c.3351del (p.Ile1117_Leu1118insTer)	BRCA2	Pathogenic	13	32911843	32911843	TA	T	reviewed by expert panel	ClinGen:CA017828