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.1933del (p.Arg645fs)	BRCA2	Pathogenic	13	32910422	32910422	GA	G	reviewed by expert panel	ClinGen:CA013952
single nucleotide variant	NM_000059.4(BRCA2):c.196C>T (p.Gln66Ter)	BRCA2	Pathogenic	13	32893342	32893342	C	T	reviewed by expert panel	ClinGen:CA014053
Deletion	NM_000059.4(BRCA2):c.2026del (p.Cys676fs)	BRCA2	Pathogenic	13	32910518	32910518	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2254&base_change=del T,ClinGen:CA014155
Deletion	NM_000059.4(BRCA2):c.204del (p.Lys68fs)	BRCA2	Pathogenic	13	32893348	32893348	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):432&base_change=del A,ClinGen:CA014238
single nucleotide variant	NM_000059.4(BRCA2):c.2064T>G (p.Tyr688Ter)	BRCA2	Pathogenic	13	32910556	32910556	T	G	reviewed by expert panel	ClinGen:CA014258
Deletion	NM_000059.4(BRCA2):c.2094del (p.Gln699fs)	BRCA2	Pathogenic	13	32910586	32910586	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2322&base_change=del A,ClinGen:CA014327
Deletion	NM_000059.4(BRCA2):c.2150del (p.Cys717fs)	BRCA2	Pathogenic	13	32910642	32910642	TG	T	reviewed by expert panel	ClinGen:CA014453
Indel	NM_000059.4(BRCA2):c.215delinsTT (p.Asn72fs)	BRCA2	Pathogenic	13	32893361	32893361	A	TT	reviewed by expert panel	ClinGen:CA325832
single nucleotide variant	NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter)	BRCA2	Pathogenic	13	32910716	32910716	C	T	reviewed by expert panel	ClinGen:CA014670
Deletion	NM_000059.4(BRCA2):c.2254_2257del (p.Asp752fs)	BRCA2	Pathogenic	13	32910743	32910746	TACTG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):2482&base_change=del GACT,ClinGen:CA014764