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.1240_1246del (p.Leu413_Asp414insTer)	BRCA1	Pathogenic	17	41246302	41246308	AGAACGTC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1359&base_change=del GACGTTC,ClinGen:CA000815
Duplication	NM_007294.4(BRCA1):c.1241dup (p.Asp414fs)	BRCA1	Pathogenic	17	41246306	41246307	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1360&base_change=ins A,ClinGen:CA000817
Deletion	NM_007294.4(BRCA1):c.124del (p.Ile42fs)	BRCA1	Pathogenic	17	41267753	41267753	AT	A	reviewed by expert panel	ClinGen:CA000821,Breast Cancer Information Core (BIC) (BRCA1):243&base_change=del A
single nucleotide variant	NM_007294.4(BRCA1):c.1252G>T (p.Glu418Ter)	BRCA1	Pathogenic	17	41246296	41246296	C	A	reviewed by expert panel	ClinGen:CA000825
Deletion	NM_007294.4(BRCA1):c.1255del (p.Glu418_Val419insTer)	BRCA1	Pathogenic	17	41246293	41246293	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1374&base_change=del G,ClinGen:CA000827
Duplication	NM_007294.4(BRCA1):c.1265dup (p.Tyr422Ter)	BRCA1	Pathogenic	17	41246282	41246283	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1384&base_change=ins A,ClinGen:CA000834
single nucleotide variant	NM_007294.4(BRCA1):c.1266T>G (p.Tyr422Ter)	BRCA1	Pathogenic	17	41246282	41246282	A	C	reviewed by expert panel	ClinGen:CA000836
Deletion	NM_007294.4(BRCA1):c.1276del (p.Ser426fs)	BRCA1	Pathogenic	17	41246272	41246272	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1395&base_change=del T,ClinGen:CA000838
single nucleotide variant	NM_007294.4(BRCA1):c.1279G>T (p.Glu427Ter)	BRCA1	Pathogenic	17	41246269	41246269	C	A	reviewed by expert panel	ClinGen:CA000839
Duplication	NM_007294.4(BRCA1):c.1287dup (p.Asp430fs)	BRCA1	Pathogenic	17	41246260	41246261	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1406&base_change=ins A,ClinGen:CA000841