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.4002_4005del (p.Leu1335fs)	BRCA1	Pathogenic	17	41243543	41243546	TCAGA	T	reviewed by expert panel	ClinGen:CA002565
Deletion	NM_007294.4(BRCA1):c.4043del (p.Gly1348fs)	BRCA1	Pathogenic	17	41243505	41243505	TC	T	reviewed by expert panel	ClinGen:CA002582
Duplication	NM_007294.4(BRCA1):c.4049dup (p.Glu1352fs)	BRCA1	Pathogenic	17	41243498	41243499	G	GC	reviewed by expert panel	ClinGen:CA327907
single nucleotide variant	NM_007294.4(BRCA1):c.4052T>A (p.Leu1351Ter)	BRCA1	Pathogenic	17	41243496	41243496	A	T	reviewed by expert panel	ClinGen:CA002587
Duplication	NM_007294.4(BRCA1):c.4052dup (p.Leu1351fs)	BRCA1	Pathogenic	17	41243495	41243496	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4171&base_change=ins T,ClinGen:CA002586
single nucleotide variant	NM_007294.4(BRCA1):c.4057G>T (p.Glu1353Ter)	BRCA1	Pathogenic	17	41243491	41243491	C	A	reviewed by expert panel	ClinGen:CA002592
Deletion	NM_007294.4(BRCA1):c.4057_4061del (p.Glu1352_Glu1353insTer)	BRCA1	Pathogenic	17	41243487	41243491	ATTTTC	A	reviewed by expert panel	ClinGen:CA002591
Deletion	NM_007294.4(BRCA1):c.4062_4068del (p.Asn1354fs)	BRCA1	Pathogenic	17	41243480	41243486	CTTGATTA	C	reviewed by expert panel	ClinGen:CA002594
Deletion	NM_007294.4(BRCA1):c.4066_4069del (p.Gln1356fs)	BRCA1	Pathogenic	17	41243479	41243482	TCTTG	T	reviewed by expert panel	ClinGen:CA002598
Duplication	NM_007294.4(BRCA1):c.406dup (p.Arg136fs)	BRCA1	Pathogenic	17	41256173	41256174	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):525&base_change=ins A,ClinGen:CA002596