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_007294.4(BRCA1):c.310del (p.Ser104fs)	BRCA1	Pathogenic	17	41256270	41256270	CT	C	reviewed by expert panel	ClinGen:CA10590024
single nucleotide variant	NM_007294.4(BRCA1):c.303T>A (p.Tyr101Ter)	BRCA1	Pathogenic	17	41256277	41256277	A	T	reviewed by expert panel	ClinGen:CA10590025
single nucleotide variant	NM_007294.4(BRCA1):c.260T>A (p.Leu87Ter)	BRCA1	Pathogenic	17	41256926	41256926	A	T	reviewed by expert panel	ClinGen:CA10590026
Deletion	NM_007294.4(BRCA1):c.246del (p.Val83fs)	BRCA1	Pathogenic	17	41256940	41256940	CA	C	reviewed by expert panel	ClinGen:CA10590027
Indel	NM_007294.4(BRCA1):c.239_241delinsTT (p.Ser80fs)	BRCA1	Pathogenic	17	41256945	41256947	GAC	AA	reviewed by expert panel	ClinGen:CA10590028
Deletion	NM_007294.4(BRCA1):c.237del (p.Phe79fs)	BRCA1	Pathogenic	17	41256949	41256949	TA	T	reviewed by expert panel	ClinGen:CA10590029
Deletion	NM_007294.4(BRCA1):c.190_211del (p.Cys64fs)	BRCA1	Pathogenic	17	41258474	41258495	CTTTTGGTTATATCATTCTTACA	C	reviewed by expert panel	ClinGen:CA10590030
Duplication	NM_007294.4(BRCA1):c.202dup (p.Ile68fs)	BRCA1	Pathogenic	17	41258482	41258483	A	AT	reviewed by expert panel	ClinGen:CA10590031
Insertion	NM_007294.4(BRCA1):c.182_183insGCGC (p.Cys61fs)	BRCA1	Pathogenic	17	41258502	41258503	A	AGCGC	reviewed by expert panel	ClinGen:CA10590032
Duplication	NM_007294.4(BRCA1):c.179dup (p.Cys61fs)	BRCA1	Pathogenic	17	41258505	41258506	C	CT	reviewed by expert panel	ClinGen:CA10590033