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.3397_3398del (p.Leu1133fs)	BRCA1	Pathogenic	17	41244150	41244151	TAA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3516&base_change=del TT,ClinGen:CA002195
single nucleotide variant	NM_007294.4(BRCA1):c.3398T>A (p.Leu1133Ter)	BRCA1	Pathogenic	17	41244150	41244150	A	T	reviewed by expert panel	ClinGen:CA002196
single nucleotide variant	NM_007294.4(BRCA1):c.3398T>G (p.Leu1133Ter)	BRCA1	Pathogenic	17	41244150	41244150	A	C	reviewed by expert panel	ClinGen:CA002197
single nucleotide variant	NM_007294.4(BRCA1):c.3403C>T (p.Gln1135Ter)	BRCA1	Pathogenic	17	41244145	41244145	G	A	reviewed by expert panel	ClinGen:CA002200
Deletion	NM_007294.4(BRCA1):c.3413del (p.Gly1138fs)	BRCA1	Pathogenic	17	41244135	41244135	TC	T	reviewed by expert panel	ClinGen:CA002206
Deletion	NM_007294.4(BRCA1):c.3416del (p.Ser1139fs)	BRCA1	Pathogenic	17	41244132	41244132	AC	A	reviewed by expert panel	ClinGen:CA002208
Deletion	NM_007294.4(BRCA1):c.3417del (p.Ser1139fs)	BRCA1	Pathogenic	17	41244131	41244131	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3536&base_change=del T,ClinGen:CA002210
Duplication	NM_007294.4(BRCA1):c.3420dup (p.His1141fs)	BRCA1	Pathogenic	17	41244127	41244128	G	GA	reviewed by expert panel	ClinGen:CA327866
Indel	NM_007294.4(BRCA1):c.3428delinsTA (p.Ser1143fs)	BRCA1	Pathogenic	17	41244120	41244120	G	TA	reviewed by expert panel	ClinGen:CA327867
single nucleotide variant	NM_007294.4(BRCA1):c.3430C>T (p.Gln1144Ter)	BRCA1	Pathogenic	17	41244118	41244118	G	A	reviewed by expert panel	ClinGen:CA002219