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
single nucleotide variant	NM_000059.4(BRCA2):c.772C>T (p.Gln258Ter)	BRCA2	Pathogenic	13	32905146	32905146	C	T	reviewed by expert panel	ClinGen:CA025248
single nucleotide variant	NM_000059.4(BRCA2):c.7738C>T (p.Gln2580Ter)	BRCA2	Pathogenic	13	32931999	32931999	C	T	reviewed by expert panel	ClinGen:CA025250
Deletion	NM_000059.4(BRCA2):c.7751del (p.Gly2584fs)	BRCA2	Pathogenic	13	32932011	32932011	TG	T	reviewed by expert panel	ClinGen:CA025255
single nucleotide variant	NM_000059.4(BRCA2):c.7757G>A (p.Trp2586Ter)	BRCA2	Pathogenic	13	32932018	32932018	G	A	reviewed by expert panel	ClinGen:CA025259
single nucleotide variant	NM_000059.4(BRCA2):c.775A>T (p.Arg259Ter)	BRCA2	Pathogenic	13	32905149	32905149	A	T	reviewed by expert panel	ClinGen:CA025262
Deletion	NM_000059.4(BRCA2):c.775del (p.Arg259fs)	BRCA2	Pathogenic	13	32905147	32905147	CA	C	reviewed by expert panel	ClinGen:CA025263
Deletion	NM_000059.4(BRCA2):c.7761del (p.Ile2588fs)	BRCA2	Pathogenic	13	32932022	32932022	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7989&base_change=del C,ClinGen:CA025264
Deletion	NM_000059.4(BRCA2):c.7762del (p.Ile2588fs)	BRCA2	Pathogenic	13	32932023	32932023	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7990&base_change=del A,ClinGen:CA025265
single nucleotide variant	NM_000059.4(BRCA2):c.7805+1G>A	BRCA2	Pathogenic	13	32932067	32932067	G	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):8033+1&base_change=G to A,ClinGen:CA025280
single nucleotide variant	NM_000059.4(BRCA2):c.7805G>C (p.Arg2602Thr)	BRCA2	Pathogenic	13	32932066	32932066	G	C	criteria provided, single submitter	ClinGen:CA025285