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_007294.4(BRCA1):c.1240dup (p.Asp414fs)	BRCA1	Pathogenic	17	41246307	41246308	T	TC	reviewed by expert panel	ClinGen:CA026485
Deletion	NM_000059.4(BRCA2):c.774_775del (p.Glu260fs)	BRCA2	Pathogenic	13	32905147	32905148	CAA	C	reviewed by expert panel	ClinGen:CA025252
Deletion	NM_000059.4(BRCA2):c.6174del (p.Phe2058fs)	BRCA2	Pathogenic	13	32914664	32914664	AT	A	reviewed by expert panel	ClinGen:CA023718
Deletion	NM_000059.4(BRCA2):c.6777_6778del (p.Asn2259fs)	BRCA2	Pathogenic	13	32915269	32915270	ATG	A	reviewed by expert panel	ClinGen:CA024404
single nucleotide variant	NM_000059.4(BRCA2):c.7008-1G>A	BRCA2	Pathogenic	13	32928997	32928997	G	A	reviewed by expert panel	ClinGen:CA024727
Duplication	NM_000059.4(BRCA2):c.7340dup (p.Asn2447fs)	BRCA2	Pathogenic	13	32929330	32929330	T	TA	reviewed by expert panel	ClinGen:CA273824
single nucleotide variant	NM_000059.4(BRCA2):c.9281C>G (p.Ser3094Ter)	BRCA2	Pathogenic	13	32968850	32968850	C	G	reviewed by expert panel	ClinGen:CA026085
Deletion	NM_007298.4(BRCA1):c.1049-3_1172del	BRCA1	Pathogenic	17	41228505	41228631	CCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTG	C	reviewed by expert panel	ClinGen:CA002799
Duplication	NM_007294.4(BRCA1):c.4386dup (p.Tyr1463fs)	BRCA1	Pathogenic	17	41228602	41228603	A	AT	reviewed by expert panel	ClinGen:CA273823
Duplication	NM_007294.4(BRCA1):c.2298dup (p.Ser767Ter)	BRCA1	Pathogenic	17	41245250	41245250	T	TA	reviewed by expert panel	ClinGen:CA026480