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
Deletion	NM_000059.4(BRCA2):c.9310_9311del (p.Lys3104fs)	BRCA2	Pathogenic	13	32968878	32968879	TAA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9538&base_change=del AA,ClinGen:CA026102
single nucleotide variant	NM_000059.4(BRCA2):c.9317G>A (p.Trp3106Ter)	BRCA2	Pathogenic	13	32968886	32968886	G	A	reviewed by expert panel	ClinGen:CA026103
single nucleotide variant	NM_000059.4(BRCA2):c.9331G>T (p.Glu3111Ter)	BRCA2	Pathogenic	13	32968900	32968900	G	T	reviewed by expert panel	ClinGen:CA026106
single nucleotide variant	NM_000059.4(BRCA2):c.9356T>G (p.Leu3119Ter)	BRCA2	Pathogenic	13	32968925	32968925	T	G	reviewed by expert panel	ClinGen:CA026114
Indel	NM_000059.4(BRCA2):c.9356_9357delinsG (p.Met3118_Leu3119insTer)	BRCA2	Pathogenic	13	32968925	32968926	TA	G	reviewed by expert panel	ClinGen:CA026113
Deletion	NM_000059.4(BRCA2):c.9360del (p.Ile3120fs)	BRCA2	Pathogenic	13	32968928	32968928	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9588&base_change=del T,ClinGen:CA026115
single nucleotide variant	NM_000059.4(BRCA2):c.9376C>T (p.Gln3126Ter)	BRCA2	Pathogenic	13	32968945	32968945	C	T	reviewed by expert panel	ClinGen:CA026122
single nucleotide variant	NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)	BRCA2	Pathogenic	13	32968951	32968951	C	T	reviewed by expert panel	ClinGen:CA026127
Deletion	NM_000059.4(BRCA2):c.9393del (p.Lys3132fs)	BRCA2	Pathogenic	13	32968961	32968961	TC	T	reviewed by expert panel	ClinGen:CA026135
single nucleotide variant	NM_000059.4(BRCA2):c.93G>A (p.Trp31Ter)	BRCA2	Pathogenic	13	32893239	32893239	G	A	reviewed by expert panel	ClinGen:CA026138