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.5207_5208del (p.Gln1736fs)	BRCA2	Pathogenic	13	32913699	32913700	CAA	C	reviewed by expert panel	ClinGen:CA021686
Deletion	NM_000059.4(BRCA2):c.5208del (p.Asp1737fs)	BRCA2	Pathogenic	13	32913699	32913699	CA	C	reviewed by expert panel	ClinGen:CA021689
single nucleotide variant	NM_000059.4(BRCA2):c.5217T>A (p.Tyr1739Ter)	BRCA2	Pathogenic	13	32913709	32913709	T	A	reviewed by expert panel	ClinGen:CA021745
Deletion	NM_000059.4(BRCA2):c.5217_5220del (p.Thr1738_Tyr1739insTer)	BRCA2	Pathogenic	13	32913706	32913709	CTTAT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5445&base_change=del TTTA,ClinGen:CA021722
Deletion	NM_000059.4(BRCA2):c.5217_5221del (p.Tyr1739_Ser1741delinsTer)	BRCA2	Pathogenic	13	32913708	32913712	TATTTA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5445&base_change=del TTTAA,ClinGen:CA021726
Deletion	NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer)	BRCA2	Pathogenic	13	32913709	32913715	ATTTAAGT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5445&base_change=del TTTAAGT,ClinGen:CA021736
Deletion	NM_000059.4(BRCA2):c.5217_5224delTTTAAGTA	BRCA2	Pathogenic	13	32913707	32913714	TTATTTAAG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5445&base_change=del TTTAAGTA,ClinGen:CA021739
Deletion	NM_000059.4(BRCA2):c.5250del (p.Tyr1751fs)	BRCA2	Pathogenic	13	32913741	32913741	TC	T	reviewed by expert panel	ClinGen:CA021855
Deletion	NM_000059.4(BRCA2):c.5254del (p.His1752fs)	BRCA2	Pathogenic	13	32913745	32913745	AC	A	reviewed by expert panel	ClinGen:CA021869
single nucleotide variant	NM_000059.4(BRCA2):c.5279C>G (p.Ser1760Ter)	BRCA2	Pathogenic	13	32913771	32913771	C	G	reviewed by expert panel	ClinGen:CA021930