家族性膵がん - MGenReviews

家族性膵がん

腫瘍性疾患

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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.6541G>T (p.Gly2181Ter)	BRCA2	Pathogenic	13	32915033	32915033	G	T	reviewed by expert panel	ClinGen:CA10589390
single nucleotide variant	NM_000059.4(BRCA2):c.6557C>G (p.Ser2186Ter)	BRCA2	Pathogenic	13	32915049	32915049	C	G	reviewed by expert panel	ClinGen:CA10589391
Deletion	NM_000059.4(BRCA2):c.6566del (p.Asn2189fs)	BRCA2	Pathogenic	13	32915054	32915054	TA	T	reviewed by expert panel	ClinGen:CA10589392
Deletion	NM_000059.4(BRCA2):c.6575_6588del (p.Met2192fs)	BRCA2	Pathogenic	13	32915064	32915077	AAAATGGAAATTGGT	A	reviewed by expert panel	ClinGen:CA10589393
Duplication	NM_000059.4(BRCA2):c.6580dup (p.Ile2194fs)	BRCA2	Pathogenic	13	32915069	32915070	G	GA	reviewed by expert panel	ClinGen:CA10589394
Duplication	NM_000059.4(BRCA2):c.6585dup (p.Lys2196Ter)	BRCA2	Pathogenic	13	32915076	32915077	G	GT	reviewed by expert panel	ClinGen:CA10589395
Duplication	NM_000059.4(BRCA2):c.6625dup (p.Ile2209fs)	BRCA2	Pathogenic	13	32915116	32915117	T	TA	reviewed by expert panel	ClinGen:CA10589396
Deletion	NM_000059.4(BRCA2):c.6645_6648del (p.Thr2214_Tyr2215insTer)	BRCA2	Pathogenic	13	32915137	32915140	ACTCC	A	reviewed by expert panel	ClinGen:CA10589397
single nucleotide variant	NM_000059.4(BRCA2):c.6676G>T (p.Glu2226Ter)	BRCA2	Pathogenic	13	32915168	32915168	G	T	reviewed by expert panel	ClinGen:CA10589398
Deletion	NM_000059.4(BRCA2):c.6698del (p.Ala2233fs)	BRCA2	Pathogenic	13	32915190	32915190	GC	G	reviewed by expert panel	ClinGen:CA10589399