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.7857G>A (p.Trp2619Ter)	BRCA2	Pathogenic	13	32936711	32936711	G	A	reviewed by expert panel	ClinGen:CA025311
single nucleotide variant	NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)	BRCA2	Pathogenic/Likely pathogenic	13	32936722	32936722	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA025314
single nucleotide variant	NM_000059.4(BRCA2):c.7878G>A (p.Trp2626Ter)	BRCA2	Pathogenic	13	32936732	32936732	G	A	reviewed by expert panel	ClinGen:CA025318
single nucleotide variant	NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)	BRCA2	Pathogenic	13	32936732	32936732	G	C	reviewed by expert panel	ClinGen:CA025319
Deletion	NM_000059.4(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer)	BRCA2	Pathogenic	13	32936764	32936768	GCCTTT	G	reviewed by expert panel	ClinGen:CA025328,Breast Cancer Information Core (BIC) (BRCA2):8138&base_change=del CCTTT,Breast Cancer Information Core (BIC) (BRCA2):8141&base_change=del TTCCT
single nucleotide variant	NM_000059.4(BRCA2):c.7963C>T (p.Gln2655Ter)	BRCA2	Pathogenic	13	32936817	32936817	C	T	reviewed by expert panel	ClinGen:CA025356
single nucleotide variant	NM_000059.4(BRCA2):c.7974C>G (p.Tyr2658Ter)	BRCA2	Pathogenic	13	32936828	32936828	C	G	reviewed by expert panel	ClinGen:CA025361
single nucleotide variant	NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly)	BRCA2	Pathogenic	13	32936829	32936829	A	G	reviewed by expert panel	ClinGen:CA025362
single nucleotide variant	NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)	BRCA2	Pathogenic	13	32936830	32936830	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA025368
single nucleotide variant	NM_000059.4(BRCA2):c.7977-1G>C	BRCA2	Pathogenic	13	32937315	32937315	G	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8205-1&base_change=G to C,ClinGen:CA025372