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.3569_3570del (p.Pro1190fs)	BRCA1	Pathogenic	17	41243978	41243979	TAG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3688&base_change=del CT,ClinGen:CA002276
Duplication	NM_007294.4(BRCA1):c.3578dup (p.Thr1194fs)	BRCA1	Pathogenic	17	41243969	41243970	G	GA	reviewed by expert panel	ClinGen:CA327880
Deletion	NM_007294.4(BRCA1):c.3580del (p.Thr1194fs)	BRCA1	Pathogenic	17	41243968	41243968	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3699&base_change=del A,ClinGen:CA002279
Deletion	NM_007294.4(BRCA1):c.3583del (p.His1195fs)	BRCA1	Pathogenic	17	41243965	41243965	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3700&base_change=del C,ClinGen:CA002282
Duplication	NM_007294.4(BRCA1):c.3586dup (p.Thr1196fs)	BRCA1	Pathogenic	17	41243961	41243962	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3705&base_change=ins A,ClinGen:CA002286
single nucleotide variant	NM_007294.4(BRCA1):c.3593T>A (p.Leu1198Ter)	BRCA1	Pathogenic	17	41243955	41243955	A	T	reviewed by expert panel	ClinGen:CA002292
Deletion	NM_007294.4(BRCA1):c.3596_3602del (p.Ala1199fs)	BRCA1	Pathogenic	17	41243946	41243952	ACCCTGAG	A	reviewed by expert panel	ClinGen:CA002293
single nucleotide variant	NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)	BRCA1	Pathogenic	17	41243950	41243950	G	A	reviewed by expert panel	ClinGen:CA002296
single nucleotide variant	NM_007294.4(BRCA1):c.3619A>T (p.Lys1207Ter)	BRCA1	Pathogenic	17	41243929	41243929	T	A	reviewed by expert panel	ClinGen:CA002314
Indel	NM_007294.4(BRCA1):c.3621_3626delinsAA (p.Leu1209fs)	BRCA1	Pathogenic	17	41243922	41243927	AATTTC	TT	reviewed by expert panel	ClinGen:CA002316