遺伝性乳がん・卵巣がん症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
Insertion	NM_007294.4(BRCA1):c.1101_1102insC (p.Glu368fs)	BRCA1	Pathogenic	17	41246446	41246447	C	CG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1220&base_change=ins C,ClinGen:CA000735
Duplication	NM_007294.4(BRCA1):c.1129dup (p.Ser377fs)	BRCA1	Pathogenic	17	41246418	41246419	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1248&base_change=ins A,ClinGen:CA000755
Deletion	NM_007294.4(BRCA1):c.19_47del (p.Arg7fs)	BRCA1	Pathogenic	17	41276067	41276095	ATTAATGACATTTTGTACTTCTTCAACGCG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):138&base_change=del 29,ClinGen:CA001288
Deletion	NM_007294.4(BRCA1):c.1356del (p.Glu453fs)	BRCA1	Pathogenic	17	41246192	41246192	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1475&base_change=del A,ClinGen:CA000902
Duplication	NM_007294.4(BRCA1):c.1392dup (p.Tyr465fs)	BRCA1	Pathogenic	17	41246155	41246156	A	AG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1511&base_change=ins C,ClinGen:CA000933
Insertion	NM_007294.4(BRCA1):c.1440_1441insA (p.Leu481fs)	BRCA1	Pathogenic	17	41246107	41246108	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1559&base_change=ins A,ClinGen:CA000964
Duplication	NM_007294.4(BRCA1):c.1462dup (p.Thr488fs)	BRCA1	Pathogenic	17	41246085	41246086	G	GT	reviewed by expert panel	ClinGen:CA000981,Breast Cancer Information Core (BIC) (BRCA1):1581&base_change=ins A
Deletion	NM_007294.4(BRCA1):c.1518del (p.Arg507fs)	BRCA1	Pathogenic	17	41246030	41246030	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1637&base_change=del G,ClinGen:CA001024
Indel	NM_007294.4(BRCA1):c.1561_1562delinsTA (p.Ala521Ter)	BRCA1	Pathogenic	17	41245986	41245987	GC	TA	reviewed by expert panel	ClinGen:CA001043
Duplication	NM_007294.4(BRCA1):c.1695dup (p.Lys566fs)	BRCA1	Pathogenic	17	41245852	41245853	T	TC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1814&base_change=ins G,ClinGen:CA001111