家族性膵がん - MGenReviews

家族性膵がん

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
Deletion	NM_007294.4(BRCA1):c.745_746del (p.Thr248_Thr249insTer)	BRCA1	Pathogenic	17	41246802	41246803	AGT	A	reviewed by expert panel	ClinGen:CA10586666
single nucleotide variant	NM_007294.4(BRCA1):c.737T>A (p.Leu246Ter)	BRCA1	Pathogenic	17	41246811	41246811	A	T	reviewed by expert panel	ClinGen:CA10586667
Deletion	NM_007294.4(BRCA1):c.475del (p.Gly160fs)	BRCA1	Pathogenic	17	41251864	41251864	AG	A	reviewed by expert panel	ClinGen:CA10586668
Deletion	NM_007294.4(BRCA1):c.464_465del (p.Gln155fs)	BRCA1	Pathogenic	17	41251874	41251875	GTT	G	reviewed by expert panel	ClinGen:CA10586669
Deletion	NM_007294.4(BRCA1):c.465del (p.Gln155fs)	BRCA1	Pathogenic	17	41251874	41251874	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):583&base_change=del A,ClinGen:CA002948
Deletion	NM_007294.4(BRCA1):c.397del (p.Arg133fs)	BRCA1	Pathogenic	17	41256183	41256183	CG	C	reviewed by expert panel	ClinGen:CA10586670
single nucleotide variant	NM_007294.4(BRCA1):c.390C>G (p.Tyr130Ter)	BRCA1	Pathogenic	17	41256190	41256190	G	C	reviewed by expert panel	ClinGen:CA10586671
single nucleotide variant	NM_007294.4(BRCA1):c.280C>T (p.Gln94Ter)	BRCA1	Pathogenic	17	41256906	41256906	G	A	reviewed by expert panel	ClinGen:CA10586672
Deletion	NM_007294.4(BRCA1):c.211del (p.Arg71fs)	BRCA1	Pathogenic	17	41258474	41258474	CT	C	reviewed by expert panel	ClinGen:CA10586673
Duplication	NM_007294.4(BRCA1):c.205dup (p.Thr69fs)	BRCA1	Pathogenic	17	41258479	41258480	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):322&base_change=ins A,ClinGen:CA001352