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.631G>C (p.Val211Leu)	BRCA2	Pathogenic/Likely pathogenic	13	32900750	32900750	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA023872
Deletion	NM_000059.4(BRCA2):c.6333_6337del (p.Arg2112fs)	BRCA2	Pathogenic	13	32914823	32914827	TAAGAG	T	reviewed by expert panel	ClinGen:CA023925
Duplication	NM_000059.4(BRCA2):c.6373dup (p.Thr2125fs)	BRCA2	Pathogenic	13	32914859	32914860	G	GA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6601&base_change=ins A,ClinGen:CA023957
Deletion	NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs)	BRCA2	Pathogenic	13	32914894	32914898	ATAACT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6630&base_change=del TAACT,Breast Cancer Information Core (BIC) (BRCA2):6633&base_change=del CTTAA,ClinGen:CA023991
Deletion	NM_000059.4(BRCA2):c.6434_6441del (p.Asn2145fs)	BRCA2	Pathogenic	13	32914926	32914933	AATAATCAC	A	reviewed by expert panel	ClinGen:CA024026
Duplication	NM_000059.4(BRCA2):c.6444dup (p.Ile2149fs)	BRCA2	Pathogenic	13	32914935	32914936	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6672&base_change=ins T,ClinGen:CA024044
Insertion	NM_000059.4(BRCA2):c.6535_6536insA (p.Val2179fs)	BRCA2	Pathogenic	13	32915027	32915028	G	GA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6763&base_change=ins A,ClinGen:CA024147
Duplication	NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs)	BRCA2	Pathogenic	13	32915053	32915054	T	TA	reviewed by expert panel	ClinGen:CA024170
Duplication	NM_000059.4(BRCA2):c.6641dup (p.Tyr2215fs)	BRCA2	Pathogenic	13	32915133	32915133	A	AC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6869&base_change=ins C,ClinGen:CA024243
Deletion	NM_000059.4(BRCA2):c.6644_6647del (p.Tyr2215fs)	BRCA2	Pathogenic	13	32915136	32915139	TACTC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6872&base_change=del ACTC,ClinGen:CA024249