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
Duplication	NM_000059.4(BRCA2):c.9060dup (p.Glu3021Ter)	BRCA2	Pathogenic	13	32953992	32953993	C	CT	reviewed by expert panel	ClinGen:CA10589543
Duplication	NM_000059.4(BRCA2):c.9063_9064dup (p.Arg3022fs)	BRCA2	Pathogenic	13	32953994	32953995	G	GAA	reviewed by expert panel	ClinGen:CA10589544
Deletion	NM_000059.4(BRCA2):c.9089del (p.Thr3030fs)	BRCA2	Pathogenic	13	32954022	32954022	AC	A	reviewed by expert panel	ClinGen:CA10589545
single nucleotide variant	NM_000059.4(BRCA2):c.9105T>G (p.Tyr3035Ter)	BRCA2	Pathogenic	13	32954038	32954038	T	G	reviewed by expert panel	ClinGen:CA10589546
single nucleotide variant	NM_000059.4(BRCA2):c.9106C>T (p.Gln3036Ter)	BRCA2	Pathogenic	13	32954039	32954039	C	T	reviewed by expert panel	ClinGen:CA10589547
Indel	NM_000059.3(BRCA2):c.9106delinsTACT (p.Gln3036delinsTyrTer)	BRCA2	Pathogenic	13	32954039	32954039	C	TACT	reviewed by expert panel	ClinGen:CA10589548
Deletion	NM_000059.4(BRCA2):c.9134del (p.Leu3045fs)	BRCA2	Pathogenic	13	32954157	32954157	AT	A	reviewed by expert panel	ClinGen:CA10589549
single nucleotide variant	NM_000059.4(BRCA2):c.9139C>T (p.Gln3047Ter)	BRCA2	Pathogenic	13	32954165	32954165	C	T	reviewed by expert panel	ClinGen:CA10589550
single nucleotide variant	NM_000059.4(BRCA2):c.9147C>A (p.Tyr3049Ter)	BRCA2	Pathogenic	13	32954173	32954173	C	A	reviewed by expert panel	ClinGen:CA10589551
single nucleotide variant	NM_000059.4(BRCA2):c.9182T>G (p.Leu3061Ter)	BRCA2	Pathogenic	13	32954208	32954208	T	G	reviewed by expert panel	ClinGen:CA10589552