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
Duplication	NM_007294.4(BRCA1):c.3716dup (p.Gln1240fs)	BRCA1	Pathogenic	17	41243831	41243832	A	AG	reviewed by expert panel	ClinGen:CA327888
single nucleotide variant	NM_007294.4(BRCA1):c.3718C>T (p.Gln1240Ter)	BRCA1	Pathogenic	17	41243830	41243830	G	A	reviewed by expert panel	ClinGen:CA002387
Deletion	NM_007294.4(BRCA1):c.3722_3740del (p.Ser1241fs)	BRCA1	Pathogenic	17	41243808	41243826	AACGGTGCTATGCCTAGTAG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3841&base_change=del 19,ClinGen:CA002388
Deletion	NM_007294.4(BRCA1):c.3736del (p.Thr1246fs)	BRCA1	Pathogenic	17	41243812	41243812	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3855&base_change=del A,ClinGen:CA002395
single nucleotide variant	NM_007294.4(BRCA1):c.3753T>A (p.Cys1251Ter)	BRCA1	Pathogenic	17	41243795	41243795	A	T	reviewed by expert panel	ClinGen:CA002405
Deletion	NM_007294.4(BRCA1):c.3756_3757del (p.Leu1252_Ser1253insTer)	BRCA1	Pathogenic	17	41243791	41243792	GAC	G	reviewed by expert panel	ClinGen:CA002406
Duplication	NM_007294.4(BRCA1):c.3759dup (p.Lys1254Ter)	BRCA1	Pathogenic	17	41243788	41243789	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3878&base_change=ins T,ClinGen:CA002411
Insertion	NM_007294.4(BRCA1):c.375_376insT (p.Gln126fs)	BRCA1	Pathogenic	17	41256204	41256205	G	GA	reviewed by expert panel	ClinGen:CA002404
Insertion	NM_007294.4(BRCA1):c.3760_3761insT (p.Lys1254fs)	BRCA1	Pathogenic	17	41243787	41243788	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3879&base_change=ins T,ClinGen:CA002414
Deletion	NM_007294.4(BRCA1):c.3762_3763del (p.Asn1255fs)	BRCA1	Pathogenic	17	41243785	41243786	TTC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3880&base_change=del AG,ClinGen:CA002418