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.3833del (p.Lys1278fs)	BRCA1	Pathogenic	17	41243715	41243715	CT	C	reviewed by expert panel	ClinGen:CA645373171
Deletion	NM_007294.4(BRCA1):c.3772_3776del (p.Glu1258fs)	BRCA1	Pathogenic	17	41243772	41243776	ATTCTC	A	reviewed by expert panel	ClinGen:CA645373173
Deletion	NM_007294.4(BRCA1):c.3754_3755del (p.Leu1252fs)	BRCA1	Pathogenic	17	41243793	41243794	CAG	C	reviewed by expert panel	ClinGen:CA645373174
Duplication	NM_007294.4(BRCA1):c.3747dup (p.Glu1250fs)	BRCA1	Pathogenic	17	41243800	41243801	C	CG	criteria provided, single submitter	ClinGen:CA645373175
Deletion	NM_007294.4(BRCA1):c.3711_3715del (p.Pro1238fs)	BRCA1	Pathogenic	17	41243833	41243837	GAAGGT	G	reviewed by expert panel	ClinGen:CA645373172
single nucleotide variant	NM_007294.4(BRCA1):c.3647T>A (p.Leu1216Ter)	BRCA1	Pathogenic	17	41243901	41243901	A	T	reviewed by expert panel	ClinGen:CA10594675
single nucleotide variant	NM_007294.4(BRCA1):c.3637G>T (p.Glu1213Ter)	BRCA1	Pathogenic	17	41243911	41243911	C	A	reviewed by expert panel	ClinGen:CA10594694
Deletion	NM_007294.4(BRCA1):c.3481_3493del (p.Glu1161fs)	BRCA1	Pathogenic	17	41244055	41244067	AAACTAGTATCTTC	A	reviewed by expert panel	ClinGen:CA645373177
Deletion	NM_007294.4(BRCA1):c.3479del (p.Lys1160fs)	BRCA1	Pathogenic	17	41244069	41244069	CT	C	reviewed by expert panel	ClinGen:CA645373179
Duplication	NM_007294.4(BRCA1):c.3064dup (p.Thr1022fs)	BRCA1	Pathogenic	17	41244483	41244484	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645373184