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
Duplication	NM_000059.4(BRCA2):c.7624dup (p.Thr2542fs)	BRCA2	Pathogenic	13	32931884	32931885	T	TA	reviewed by expert panel	ClinGen:CA10589441
Deletion	NM_000059.4(BRCA2):c.7631del (p.Gly2544fs)	BRCA2	Pathogenic	13	32931891	32931891	TG	T	reviewed by expert panel	ClinGen:CA10589442
Deletion	NM_000059.4(BRCA2):c.7638_7647del (p.Ser2546_Lys2547insTer)	BRCA2	Pathogenic	13	32931898	32931907	TCTAAACATTG	T	reviewed by expert panel	ClinGen:CA10589443
Deletion	NM_000059.4(BRCA2):c.7643_7644del (p.His2548fs)	BRCA2	Pathogenic	13	32931904	32931905	CAT	C	reviewed by expert panel	ClinGen:CA10589444
Duplication	NM_000059.4(BRCA2):c.7666_7667dup (p.Asn2556fs)	BRCA2	Pathogenic	13	32931923	32931924	C	CAA	reviewed by expert panel	ClinGen:CA10589445
Insertion	NM_000059.4(BRCA2):c.7668_7669insA (p.Ala2557fs)	BRCA2	Pathogenic	13	32931929	32931930	T	TA	reviewed by expert panel	ClinGen:CA10589446
single nucleotide variant	NM_000059.4(BRCA2):c.7708A>T (p.Lys2570Ter)	BRCA2	Pathogenic	13	32931969	32931969	A	T	reviewed by expert panel	ClinGen:CA10589447
Deletion	NM_000059.4(BRCA2):c.7744del (p.Ala2582fs)	BRCA2	Pathogenic	13	32932004	32932004	TG	T	reviewed by expert panel	ClinGen:CA10589448
Duplication	NM_000059.4(BRCA2):c.7762_7766dup (p.Ser2590fs)	BRCA2	Pathogenic	13	32932021	32932022	T	TCATAC	reviewed by expert panel	ClinGen:CA10589449
Duplication	NM_000059.4(BRCA2):c.7781dup (p.Ala2595fs)	BRCA2	Pathogenic	13	32932039	32932040	G	GA	reviewed by expert panel	ClinGen:CA10589450