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.9076C>T (p.Gln3026Ter)	BRCA2	Pathogenic	13	32954009	32954009	C	T	reviewed by expert panel	ClinGen:CA025962
Duplication	NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs)	BRCA2	Pathogenic	13	32954030	32954030	C	CA	reviewed by expert panel	ClinGen:CA025970
Deletion	NM_000059.4(BRCA2):c.9097del (p.Thr3033fs)	BRCA2	Pathogenic	13	32954023	32954023	CA	C	reviewed by expert panel	ClinGen:CA025971
single nucleotide variant	NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)	BRCA2	Pathogenic	13	32954050	32954050	G	A	reviewed by expert panel	ClinGen:CA025994
Deletion	NM_000059.4(BRCA2):c.9235del (p.Val3079fs)	BRCA2	Pathogenic	13	32954261	32954261	CG	C	reviewed by expert panel	ClinGen:CA026043
Duplication	NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)	BRCA2	Pathogenic	13	32954272	32954273	G	GA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9481&base_change=ins A,ClinGen:CA026052
Deletion	NM_000059.4(BRCA2):c.9274del (p.Tyr3092fs)	BRCA2	Pathogenic	13	32968843	32968843	CT	C	reviewed by expert panel	ClinGen:CA026077
single nucleotide variant	NM_000059.4(BRCA2):c.9294C>A (p.Tyr3098Ter)	BRCA2	Pathogenic	13	32968863	32968863	C	A	reviewed by expert panel	ClinGen:CA026093
single nucleotide variant	NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)	BRCA2	Pathogenic	13	32968863	32968863	C	G	reviewed by expert panel	ClinGen:CA026094
single nucleotide variant	NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)	BRCA2	Pathogenic	13	32968940	32968940	A	T	reviewed by expert panel	ClinGen:CA026119