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.6340_6341del (p.Pro2114fs)	BRCA2	Pathogenic	13	32914831	32914832	ACC	A	reviewed by expert panel	ClinGen:CA10589370
Duplication	NM_000059.4(BRCA2):c.6356dup (p.Asn2119fs)	BRCA2	Pathogenic	13	32914845	32914846	T	TA	reviewed by expert panel	ClinGen:CA10589371
Duplication	NM_000059.4(BRCA2):c.6372_6373dup (p.Thr2125fs)	BRCA2	Pathogenic	13	32914859	32914860	G	GAA	reviewed by expert panel	ClinGen:CA10589372
single nucleotide variant	NM_000059.4(BRCA2):c.6385G>T (p.Glu2129Ter)	BRCA2	Pathogenic	13	32914877	32914877	G	T	reviewed by expert panel	ClinGen:CA10589373
Duplication	NM_000059.4(BRCA2):c.6396dupA	BRCA2	Pathogenic	13	32914887	32914888	T	TA	reviewed by expert panel	ClinGen:CA10589374
Deletion	NM_000059.4(BRCA2):c.6410del (p.Asn2137fs)	BRCA2	Pathogenic	13	32914900	32914900	TA	T	reviewed by expert panel	ClinGen:CA10589375
Deletion	NM_000059.4(BRCA2):c.6419del (p.Gly2140fs)	BRCA2	Pathogenic	13	32914910	32914910	AG	A	reviewed by expert panel	ClinGen:CA10589376
single nucleotide variant	NM_000059.4(BRCA2):c.6428C>G (p.Ser2143Ter)	BRCA2	Pathogenic	13	32914920	32914920	C	G	reviewed by expert panel	ClinGen:CA10589377
Deletion	NM_000059.4(BRCA2):c.6447del (p.Val2151fs)	BRCA2	Pathogenic	13	32914938	32914938	AT	A	reviewed by expert panel	ClinGen:CA10589378
single nucleotide variant	NM_000059.4(BRCA2):c.6478C>T (p.Gln2160Ter)	BRCA2	Pathogenic	13	32914970	32914970	C	T	reviewed by expert panel	ClinGen:CA10589379