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
single nucleotide variant	NM_007294.4(BRCA1):c.34C>T (p.Gln12Ter)	BRCA1	Pathogenic	17	41276080	41276080	G	A	reviewed by expert panel	ClinGen:CA002251
Duplication	NM_007294.4(BRCA1):c.3503dup (p.Asn1168fs)	BRCA1	Pathogenic	17	41244044	41244045	A	AT	reviewed by expert panel	ClinGen:CA327875
Deletion	NM_007294.4(BRCA1):c.3505_3509del (p.Asn1168_Asp1169insTer)	BRCA1	Pathogenic	17	41244039	41244043	AATGTC	A	reviewed by expert panel	ClinGen:CA002253
single nucleotide variant	NM_007294.4(BRCA1):c.3514G>T (p.Glu1172Ter)	BRCA1	Pathogenic	17	41244034	41244034	C	A	reviewed by expert panel	ClinGen:CA002257
Deletion	NM_007294.4(BRCA1):c.3531del (p.Phe1177fs)	BRCA1	Pathogenic	17	41244017	41244017	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3650&base_change=del T,ClinGen:CA002261
Deletion	NM_007294.4(BRCA1):c.3540_3541del (p.Val1181fs)	BRCA1	Pathogenic	17	41244007	41244008	ACG	A	reviewed by expert panel	ClinGen:CA002263
single nucleotide variant	NM_007294.4(BRCA1):c.3544C>T (p.Gln1182Ter)	BRCA1	Pathogenic	17	41244004	41244004	G	A	reviewed by expert panel	ClinGen:CA002266
Deletion	NM_007294.4(BRCA1):c.3549_3550del (p.Gly1184fs)	BRCA1	Pathogenic	17	41243998	41243999	CCT	C	reviewed by expert panel	ClinGen:CA002270
Indel	NM_007294.4(BRCA1):c.3549_3550delinsT (p.Lys1183fs)	BRCA1	Pathogenic	17	41243998	41243999	CT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3668&base_change=del AG ins T,ClinGen:CA002271
single nucleotide variant	NM_007294.4(BRCA1):c.3553G>T (p.Glu1185Ter)	BRCA1	Pathogenic	17	41243995	41243995	C	A	reviewed by expert panel	ClinGen:CA002272