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.176C>A (p.Ser59Ter)	BRCA1	Pathogenic	17	41258509	41258509	G	T	reviewed by expert panel	ClinGen:CA10590034
Duplication	NM_007294.4(BRCA1):c.171dup (p.Pro58fs)	BRCA1	Pathogenic	17	41258513	41258514	G	GC	reviewed by expert panel	ClinGen:CA10590035
Insertion	NM_007294.4(BRCA1):c.140_141insT (p.Met48fs)	BRCA1	Pathogenic	17	41258544	41258545	G	GA	reviewed by expert panel	ClinGen:CA10590036
Deletion	NM_007294.4(BRCA1):c.101_105del (p.Pro34fs)	BRCA1	Pathogenic	17	41267772	41267776	AGACAG	A	reviewed by expert panel	ClinGen:CA10590037
Deletion	NM_007294.4(BRCA1):c.98_105del (p.Glu33fs)	BRCA1	Pathogenic	17	41267772	41267779	AGACAGGTT	A	reviewed by expert panel	ClinGen:CA10590038
Deletion	NM_007294.4(BRCA1):c.102del (p.Val35fs)	BRCA1	Pathogenic	17	41267775	41267775	CA	C	reviewed by expert panel	ClinGen:CA10590039
Deletion	NM_007294.4(BRCA1):c.93del (p.Lys32fs)	BRCA1	Pathogenic	17	41267784	41267784	TG	T	reviewed by expert panel	ClinGen:CA10590040
Duplication	NM_007294.4(BRCA1):c.69dup (p.Cys24fs)	BRCA1	Pathogenic	17	41276044	41276045	A	AC	reviewed by expert panel	ClinGen:CA10590042
Deletion	NM_007294.4(BRCA1):c.68del (p.Glu23fs)	BRCA1	Pathogenic	17	41276046	41276046	CT	C	reviewed by expert panel	ClinGen:CA10590043
Deletion	NM_007294.4(BRCA1):c.62_65del (p.Ile21fs)	BRCA1	Pathogenic	17	41276049	41276052	TAAGA	T	reviewed by expert panel	ClinGen:CA10590044