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.898G>T (p.Glu300Ter)	BRCA1	Pathogenic	17	41246650	41246650	C	A	reviewed by expert panel	ClinGen:CA10589982
Deletion	NM_007294.4(BRCA1):c.874del (p.Leu292fs)	BRCA1	Pathogenic	17	41246674	41246674	AG	A	reviewed by expert panel	ClinGen:CA10589983
Duplication	NM_007294.4(BRCA1):c.873dup (p.Leu292fs)	BRCA1	Pathogenic	17	41246674	41246675	G	GT	reviewed by expert panel	ClinGen:CA10589984
Duplication	NM_007294.4(BRCA1):c.861_862dup (p.Ser288fs)	BRCA1	Pathogenic	17	41246685	41246686	C	CTG	reviewed by expert panel	ClinGen:CA10589985
Deletion	NM_007294.4(BRCA1):c.862del (p.Ser288fs)	BRCA1	Pathogenic	17	41246686	41246686	CT	C	reviewed by expert panel	ClinGen:CA10589986
Deletion	NM_007294.4(BRCA1):c.829_836del (p.Asn277fs)	BRCA1	Pathogenic	17	41246712	41246719	ATGAGTATT	A	reviewed by expert panel	ClinGen:CA10589987
Duplication	NM_007294.4(BRCA1):c.832dup (p.Thr278fs)	BRCA1	Pathogenic	17	41246715	41246716	G	GT	reviewed by expert panel	ClinGen:CA10589988
Deletion	NM_007294.4(BRCA1):c.829_830del (p.Asn277fs)	BRCA1	Pathogenic	17	41246718	41246719	ATT	A	reviewed by expert panel	ClinGen:CA10589989
Duplication	NM_007294.4(BRCA1):c.807_817dup (p.Pro273fs)	BRCA1	Pathogenic	17	41246730	41246731	G	GGCTCCACATGC	reviewed by expert panel	ClinGen:CA10589990
Insertion	NM_007294.4(BRCA1):c.815_816insTCCATGTGGA (p.Glu272fs)	BRCA1	Pathogenic	17	41246732	41246733	C	CTCCACATGGA	reviewed by expert panel	ClinGen:CA10589991