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.2409del (p.Gln804fs)	BRCA1	Pathogenic	17	41245139	41245139	GA	G	reviewed by expert panel	ClinGen:CA058583
Duplication	NM_007294.4(BRCA1):c.2380dup (p.Ala794fs)	BRCA1	Pathogenic	17	41245167	41245168	G	GC	reviewed by expert panel	ClinGen:CA10586645
Deletion	NM_007294.4(BRCA1):c.2246_2280del (p.Asp749fs)	BRCA1	Pathogenic	17	41245268	41245302	CAGTTTGCAAAACCCTTTCTCCACTTAACATGAGAT	C	reviewed by expert panel	ClinGen:CA10586646
Duplication	NM_007294.4(BRCA1):c.2255_2256dup (p.Ser753Ter)	BRCA1	Pathogenic	17	41245291	41245292	T	TTA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2375&base_change=ins TA,ClinGen:CA001511
Deletion	NM_007294.4(BRCA1):c.2242_2251del (p.Lys748fs)	BRCA1	Pathogenic	17	41245297	41245306	ATGAGATCTTT	A	reviewed by expert panel	ClinGen:CA10586647
Deletion	NM_007294.4(BRCA1):c.2145del (p.Ser716fs)	BRCA1	Pathogenic	17	41245403	41245403	TG	T	reviewed by expert panel	ClinGen:CA10586648
single nucleotide variant	NM_007294.4(BRCA1):c.2138C>A (p.Ser713Ter)	BRCA1	Pathogenic	17	41245410	41245410	G	T	reviewed by expert panel	ClinGen:CA10586649
single nucleotide variant	NM_007294.4(BRCA1):c.2095G>T (p.Glu699Ter)	BRCA1	Pathogenic	17	41245453	41245453	C	A	reviewed by expert panel	ClinGen:CA10586650
Deletion	NM_007294.4(BRCA1):c.2074_2075del (p.Arg691_His692insTer)	BRCA1	Pathogenic	17	41245473	41245474	ATG	A	reviewed by expert panel	ClinGen:CA10586651
Deletion	NM_007294.4(BRCA1):c.2066_2069del (p.Ser689fs)	BRCA1	Pathogenic	17	41245479	41245482	TTTAC	T	reviewed by expert panel	ClinGen:CA10586652