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
single nucleotide variant	NM_000059.4(BRCA2):c.7033C>T (p.Gln2345Ter)	BRCA2	Pathogenic	13	32929023	32929023	C	T	reviewed by expert panel	ClinGen:CA10589410
single nucleotide variant	NM_000059.4(BRCA2):c.7090G>T (p.Glu2364Ter)	BRCA2	Pathogenic	13	32929080	32929080	G	T	reviewed by expert panel	ClinGen:CA10589411
Duplication	NM_000059.4(BRCA2):c.7110dup (p.Ser2371fs)	BRCA2	Pathogenic	13	32929095	32929096	G	GA	reviewed by expert panel	ClinGen:CA10589412
single nucleotide variant	NM_000059.4(BRCA2):c.7124T>G (p.Leu2375Ter)	BRCA2	Pathogenic	13	32929114	32929114	T	G	reviewed by expert panel	ClinGen:CA10589413
Deletion	NM_000059.4(BRCA2):c.7152del (p.Val2385fs)	BRCA2	Pathogenic	13	32929141	32929141	CA	C	reviewed by expert panel	ClinGen:CA10589414
single nucleotide variant	NM_000059.4(BRCA2):c.7187T>A (p.Leu2396Ter)	BRCA2	Pathogenic	13	32929177	32929177	T	A	reviewed by expert panel	ClinGen:CA10589415
Deletion	NM_000059.4(BRCA2):c.7191del (p.Thr2398fs)	BRCA2	Pathogenic	13	32929180	32929180	AT	A	reviewed by expert panel	ClinGen:CA10589416
single nucleotide variant	NM_000059.4(BRCA2):c.7210A>T (p.Lys2404Ter)	BRCA2	Pathogenic	13	32929200	32929200	A	T	reviewed by expert panel	ClinGen:CA10589417
Deletion	NM_000059.4(BRCA2):c.7212del (p.Val2405fs)	BRCA2	Pathogenic	13	32929200	32929200	CA	C	reviewed by expert panel	ClinGen:CA10589418
Duplication	NM_000059.4(BRCA2):c.7220_7223dup (p.Pro2409fs)	BRCA2	Pathogenic	13	32929209	32929210	G	GTTCC	reviewed by expert panel	ClinGen:CA10589419