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.3910del (p.Glu1304fs)	BRCA1	Pathogenic	17	41243638	41243638	TC	T	reviewed by expert panel	ClinGen:CA002516
Deletion	NM_007294.4(BRCA1):c.3914del (p.Asp1305fs)	BRCA1	Pathogenic	17	41243634	41243634	GT	G	reviewed by expert panel	ClinGen:CA002518
Deletion	NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs)	BRCA1	Pathogenic	17	41243631	41243632	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4035&base_change=del TT,ClinGen:CA002519
single nucleotide variant	NM_007294.4(BRCA1):c.391A>T (p.Arg131Ter)	BRCA1	Pathogenic	17	41256189	41256189	T	A	reviewed by expert panel	ClinGen:CA002521
Deletion	NM_007294.4(BRCA1):c.3926del (p.Asn1309fs)	BRCA1	Pathogenic	17	41243622	41243622	AT	A	reviewed by expert panel	ClinGen:CA002522
Deletion	NM_007294.4(BRCA1):c.3927_3930del (p.Asn1309fs)	BRCA1	Pathogenic	17	41243618	41243621	TTGTA	T	reviewed by expert panel	ClinGen:CA002523
Deletion	NM_007294.4(BRCA1):c.3931_3934del (p.Asn1311fs)	BRCA1	Pathogenic	17	41243614	41243617	GTGTT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4050&base_change=del AACA,ClinGen:CA002525
Deletion	NM_007294.4(BRCA1):c.3932del (p.Asn1311fs)	BRCA1	Pathogenic	17	41243616	41243616	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4051&base_change=del A,ClinGen:CA002526
single nucleotide variant	NM_007294.4(BRCA1):c.3964A>T (p.Lys1322Ter)	BRCA1	Pathogenic	17	41243584	41243584	T	A	reviewed by expert panel	ClinGen:CA002537
Deletion	NM_007294.4(BRCA1):c.3966del (p.Lys1322fs)	BRCA1	Pathogenic	17	41243582	41243582	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4085&base_change=del A,ClinGen:CA002541