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.8673_8674del (p.Arg2892fs)	BRCA2	Pathogenic	13	32950847	32950848	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8901&base_change=del AA,ClinGen:CA025774
Deletion	NM_000059.4(BRCA2):c.8676del (p.Arg2892fs)	BRCA2	Pathogenic	13	32950850	32950850	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8904&base_change=del A,ClinGen:CA025775
single nucleotide variant	NM_000059.4(BRCA2):c.8680C>T (p.Gln2894Ter)	BRCA2	Pathogenic	13	32950854	32950854	C	T	reviewed by expert panel	ClinGen:CA025778
Deletion	NM_000059.4(BRCA2):c.86_87del (p.Leu29fs)	BRCA2	Pathogenic	13	32893232	32893233	CTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):314&base_change=del TT,ClinGen:CA025780
Deletion	NM_000059.4(BRCA2):c.8713_8716del (p.Tyr2905fs)	BRCA2	Pathogenic	13	32950887	32950890	TTATG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8941&base_change=del TATG,ClinGen:CA025790
Deletion	NM_000059.4(BRCA2):c.8717_8718del (p.Glu2906fs)	BRCA2	Pathogenic	13	32950891	32950892	GAA	G	reviewed by expert panel	ClinGen:CA025792
Deletion	NM_000059.4(BRCA2):c.8730del (p.Asn2910fs)	BRCA2	Pathogenic	13	32950904	32950904	AT	A	reviewed by expert panel	ClinGen:CA025795
single nucleotide variant	NM_000059.4(BRCA2):c.8754+1G>A	BRCA2	Pathogenic	13	32950929	32950929	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA025803
single nucleotide variant	NM_000059.4(BRCA2):c.8754+3G>C	BRCA2	Pathogenic/Likely pathogenic	13	32950931	32950931	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA025805
single nucleotide variant	NM_000059.4(BRCA2):c.8754+4A>G	BRCA2	Pathogenic	13	32950932	32950932	A	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):8982+4&base_change=A to G,ClinGen:CA025806