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.9262dup (p.Ala3088fs)	BRCA2	Pathogenic	13	32968830	32968831	T	TG	reviewed by expert panel	ClinGen:CA026070
Duplication	NM_000059.4(BRCA2):c.9269dup (p.Val3091fs)	BRCA2	Pathogenic	13	32968835	32968836	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9497&base_change=ins T,ClinGen:CA026074
Deletion	NM_000059.4(BRCA2):c.9275_9276del (p.Tyr3092fs)	BRCA2	Pathogenic	13	32968843	32968844	CTA	C	reviewed by expert panel	ClinGen:CA026078
Deletion	NM_000059.4(BRCA2):c.9275_9278del (p.Tyr3092fs)	BRCA2	Pathogenic	13	32968843	32968846	CTATT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):9503&base_change=del ATTT,ClinGen:CA026079
single nucleotide variant	NM_000059.4(BRCA2):c.9276T>G (p.Tyr3092Ter)	BRCA2	Pathogenic	13	32968845	32968845	T	G	reviewed by expert panel	ClinGen:CA026083
single nucleotide variant	NM_000059.4(BRCA2):c.9285C>G (p.Asp3095Glu)	BRCA2	Pathogenic/Likely pathogenic	13	32968854	32968854	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA026086
single nucleotide variant	NM_000059.4(BRCA2):c.9286G>T (p.Glu3096Ter)	BRCA2	Pathogenic	13	32968855	32968855	G	T	reviewed by expert panel	ClinGen:CA026089
single nucleotide variant	NM_000059.4(BRCA2):c.9291T>A (p.Cys3097Ter)	BRCA2	Pathogenic	13	32968860	32968860	T	A	reviewed by expert panel	ClinGen:CA026091
single nucleotide variant	NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter)	BRCA2	Pathogenic	13	32893238	32893238	G	A	reviewed by expert panel	ClinGen:CA026096
Deletion	NM_000059.4(BRCA2):c.930_931del (p.Cys311fs)	BRCA2	Pathogenic	13	32906544	32906545	TTA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):1158&base_change=del AT,ClinGen:CA026100