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
Insertion	NM_007294.4(BRCA1):c.2127_2128insGA (p.Thr710fs)	BRCA1	Pathogenic	17	41245420	41245421	T	TTC	reviewed by expert panel	ClinGen:CA10589890
Deletion	NM_007294.4(BRCA1):c.2127del (p.Phe709fs)	BRCA1	Pathogenic	17	41245421	41245421	TA	T	reviewed by expert panel	ClinGen:CA10589891
Insertion	NM_007294.4(BRCA1):c.2125_2126insAGT (p.Phe709Ter)	BRCA1	Pathogenic	17	41245422	41245423	A	AACT	reviewed by expert panel	ClinGen:CA10589892
Deletion	NM_007294.4(BRCA1):c.2105del (p.Lys701_Leu702insTer)	BRCA1	Pathogenic	17	41245443	41245443	TA	T	reviewed by expert panel	ClinGen:CA10589893
Duplication	NM_007294.4(BRCA1):c.2090dup (p.Glu699fs)	BRCA1	Pathogenic	17	41245457	41245458	G	GA	reviewed by expert panel	ClinGen:CA10589894
Deletion	NM_007294.4(BRCA1):c.2086_2089del (p.Thr696fs)	BRCA1	Pathogenic	17	41245459	41245462	AAAGT	A	reviewed by expert panel	ClinGen:CA10589895
Duplication	NM_007294.4(BRCA1):c.2086dup (p.Thr696fs)	BRCA1	Pathogenic	17	41245461	41245462	G	GT	reviewed by expert panel	ClinGen:CA10589896
Duplication	NM_007294.4(BRCA1):c.2080dup (p.Ser694fs)	BRCA1	Pathogenic	17	41245467	41245468	C	CT	reviewed by expert panel	ClinGen:CA10589897
Insertion	NM_007294.4(BRCA1):c.2078_2079insTA (p.Ser694fs)	BRCA1	Pathogenic	17	41245469	41245470	G	GTA	reviewed by expert panel	ClinGen:CA10589898
Indel	NM_007294.4(BRCA1):c.2077delinsATA (p.Asp693fs)	BRCA1	Pathogenic	17	41245471	41245471	C	TAT	reviewed by expert panel	ClinGen:CA10589899