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.4681del (p.Thr1561fs)	BRCA1	Pathogenic	17	41223250	41223250	GT	G	reviewed by expert panel	ClinGen:CA002975
Deletion	NM_007294.4(BRCA1):c.4684_4685del (p.Pro1562fs)	BRCA1	Pathogenic	17	41223246	41223247	AGG	A	reviewed by expert panel	ClinGen:CA002977
Duplication	NM_007294.4(BRCA1):c.4695dup (p.Ser1566fs)	BRCA1	Pathogenic	17	41223235	41223236	A	AT	reviewed by expert panel	ClinGen:CA327938
Deletion	NM_007294.4(BRCA1):c.470_477del (p.Ser157fs)	BRCA1	Pathogenic	17	41251862	41251869	CAAGGTTAG	C	reviewed by expert panel	ClinGen:CA002986
Deletion	NM_007294.4(BRCA1):c.4712_4716del (p.Leu1570_Phe1571insTer)	BRCA1	Pathogenic	17	41223215	41223219	CAGAGA	C	reviewed by expert panel	ClinGen:CA002990,Breast Cancer Information Core (BIC) (BRCA1):4831&base_change=del TCTCT
Deletion	NM_007294.4(BRCA1):c.4724del (p.Pro1575fs)	BRCA1	Pathogenic	17	41223207	41223207	AG	A	reviewed by expert panel	ClinGen:CA002993
single nucleotide variant	NM_007294.4(BRCA1):c.4741G>T (p.Glu1581Ter)	BRCA1	Pathogenic	17	41223190	41223190	C	A	reviewed by expert panel	ClinGen:CA003000
Deletion	NM_007294.4(BRCA1):c.4745del (p.Asp1582fs)	BRCA1	Pathogenic	17	41223186	41223186	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4864&base_change=del A,ClinGen:CA003003
Deletion	NM_007294.4(BRCA1):c.4754_4755del (p.Pro1585fs)	BRCA1	Pathogenic	17	41223176	41223177	CTG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4873&base_change=del CA,ClinGen:CA003007
single nucleotide variant	NM_007294.4(BRCA1):c.4760C>G (p.Ser1587Ter)	BRCA1	Pathogenic	17	41223171	41223171	G	C	reviewed by expert panel	ClinGen:CA003008