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.7485dup (p.Lys2496Ter)	BRCA2	Pathogenic	13	32930612	32930613	A	AT	reviewed by expert panel	ClinGen:CA10589430
single nucleotide variant	NM_000059.4(BRCA2):c.7495C>T (p.Gln2499Ter)	BRCA2	Pathogenic	13	32930624	32930624	C	T	reviewed by expert panel	ClinGen:CA10589431
single nucleotide variant	NM_000059.4(BRCA2):c.7501C>T (p.Gln2501Ter)	BRCA2	Pathogenic	13	32930630	32930630	C	T	reviewed by expert panel	ClinGen:CA10589432
Deletion	NM_000059.4(BRCA2):c.7503_7506del (p.Arg2502fs)	BRCA2	Pathogenic	13	32930632	32930635	AACGC	A	reviewed by expert panel	ClinGen:CA10589433
Duplication	NM_000059.4(BRCA2):c.7517dup (p.Pro2507fs)	BRCA2	Pathogenic	13	32930645	32930646	C	CA	reviewed by expert panel	ClinGen:CA10589434
Deletion	NM_000059.4(BRCA2):c.7518del (p.Gln2506fs)	BRCA2	Pathogenic	13	32930647	32930647	AG	A	reviewed by expert panel	ClinGen:CA10589435
Deletion	NM_000059.4(BRCA2):c.7530_7531del (p.Tyr2511fs)	BRCA2	Pathogenic	13	32930658	32930659	CTG	C	reviewed by expert panel	ClinGen:CA10589436
Deletion	NM_000059.4(BRCA2):c.7558del (p.Arg2520fs)	BRCA2	Pathogenic	13	32930687	32930687	TC	T	reviewed by expert panel	ClinGen:CA10589437
Deletion	NM_000059.4(BRCA2):c.7561del (p.Ile2521fs)	BRCA2	Pathogenic	13	32930689	32930689	GA	G	reviewed by expert panel	ClinGen:CA10589438
single nucleotide variant	NM_000059.4(BRCA2):c.7615C>T (p.Gln2539Ter)	BRCA2	Pathogenic	13	32930744	32930744	C	T	reviewed by expert panel	ClinGen:CA10589440