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.1175_1214del (p.Leu392fs)	BRCA1	Pathogenic	17	41246334	41246373	TGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1294&base_change=del 40,ClinGen:CA000776,OMIM:113705.0006
Deletion	NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs)	BRCA1	Pathogenic	17	41244866	41244867	GTT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2800&base_change=del AA,ClinGen:CA001761,OMIM:113705.0008
Deletion	NM_007294.4(BRCA1):c.3005del (p.Asn1002fs)	BRCA1	Pathogenic	17	41244543	41244543	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3121&base_change=del A,Breast Cancer Information Core (BIC) (BRCA1):3124&base_change=del A,ClinGen:CA001956,OMIM:113705.0010
single nucleotide variant	NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)	BRCA1	Pathogenic	17	41243941	41243941	G	A	reviewed by expert panel	ClinGen:CA002305,OMIM:113705.0012
single nucleotide variant	NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter)	BRCA1	Pathogenic	17	41243800	41243800	C	A	reviewed by expert panel	ClinGen:CA002402,OMIM:113705.0013
Deletion	NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)	BRCA1	Pathogenic	17	41243480	41243483	CTTGA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4184&base_change=del TCAA,ClinGen:CA026492,OMIM:113705.0015
single nucleotide variant	NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)	BRCA1	Pathogenic	17	41234451	41234451	G	A	reviewed by expert panel	ClinGen:CA002769,OMIM:113705.0016
Duplication	NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)	BRCA1	Pathogenic	17	41209079	41209080	T	TG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5382&base_change=ins C,ClinGen:CA003404,OMIM:113705.0018
Deletion	NM_007294.4(BRCA1):c.4966_4984del (p.Gly1656fs)	BRCA1	Pathogenic	17	41222947	41222965	AATTCTTCTGGGGTCAGGCC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5085&base_change=del 19,ClinGen:CA003113,OMIM:113705.0020
single nucleotide variant	NM_007294.4(BRCA1):c.2389G>T (p.Glu797Ter)	BRCA1	Pathogenic	17	41245159	41245159	C	A	reviewed by expert panel	ClinGen:CA001588,OMIM:113705.0023