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.4185+1G>A	BRCA1	Pathogenic	17	41242960	41242960	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA002683
single nucleotide variant	NM_007294.4(BRCA1):c.4099G>T (p.Glu1367Ter)	BRCA1	Pathogenic	17	41243047	41243047	C	A	reviewed by expert panel	ClinGen:CA002630
Deletion	NM_007294.4(BRCA1):c.3658del (p.Asp1220fs)	BRCA1	Pathogenic	17	41243890	41243890	TC	T	reviewed by expert panel	ClinGen:CA002344
single nucleotide variant	NM_007294.4(BRCA1):c.3626T>G (p.Leu1209Ter)	BRCA1	Pathogenic	17	41243922	41243922	A	C	reviewed by expert panel	ClinGen:CA002321
Deletion	NM_007294.4(BRCA1):c.3478_3487del (p.Lys1160fs)	BRCA1	Pathogenic	17	41244061	41244070	GTATCTTCCTT	G	reviewed by expert panel	ClinGen:CA002240
single nucleotide variant	NM_007294.4(BRCA1):c.3481G>T (p.Glu1161Ter)	BRCA1	Pathogenic	17	41244067	41244067	C	A	reviewed by expert panel	ClinGen:CA002246
Deletion	NM_007294.4(BRCA1):c.3323_3324del (p.Ile1108fs)	BRCA1	Pathogenic	17	41244224	41244225	TTA	T	reviewed by expert panel	ClinGen:CA002141
single nucleotide variant	NM_007294.4(BRCA1):c.3157G>T (p.Glu1053Ter)	BRCA1	Pathogenic	17	41244391	41244391	C	A	reviewed by expert panel	ClinGen:CA002058
Deletion	NM_007294.4(BRCA1):c.3066del (p.Thr1022_Val1023insTer)	BRCA1	Pathogenic/Likely pathogenic	17	41244482	41244482	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA002013
Duplication	NM_007294.4(BRCA1):c.2654dup (p.Ser886fs)	BRCA1	Pathogenic	17	41244893	41244894	G	GA	reviewed by expert panel	ClinGen:CA197167