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.7007G>T (p.Arg2336Leu)	BRCA2	Pathogenic/Likely pathogenic	13	32921033	32921033	G	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):7235&base_change=G to T,ClinGen:CA024720
single nucleotide variant	NM_000059.4(BRCA2):c.7008-2A>G	BRCA2	Pathogenic	13	32928996	32928996	A	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7236-2&base_change=A to G,ClinGen:CA024734
single nucleotide variant	NM_000059.4(BRCA2):c.7008-2A>T	BRCA2	Pathogenic	13	32928996	32928996	A	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7236-2&base_change=A to T,ClinGen:CA024737
single nucleotide variant	NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter)	BRCA2	Pathogenic	13	32929014	32929014	C	T	reviewed by expert panel	ClinGen:CA024765
Deletion	NM_000059.4(BRCA2):c.7025_7026del (p.Gln2342fs)	BRCA2	Pathogenic	13	32929015	32929016	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7253&base_change=del AA,ClinGen:CA024768
Deletion	NM_000059.4(BRCA2):c.702del (p.Asn235fs)	BRCA2	Pathogenic	13	32905075	32905075	TC	T	reviewed by expert panel	ClinGen:CA024773
Duplication	NM_000059.4(BRCA2):c.7032dup (p.Gln2345fs)	BRCA2	Pathogenic	13	32929021	32929022	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):7260&base_change=ins A,ClinGen:CA024776
Deletion	NM_000059.4(BRCA2):c.7047del (p.Phe2349fs)	BRCA2	Pathogenic	13	32929034	32929034	AT	A	reviewed by expert panel	ClinGen:CA024786
single nucleotide variant	NM_000059.4(BRCA2):c.7060C>T (p.Gln2354Ter)	BRCA2	Pathogenic	13	32929050	32929050	C	T	reviewed by expert panel	ClinGen:CA024825
Deletion	NM_000059.4(BRCA2):c.7067_7068del (p.Phe2356fs)	BRCA2	Pathogenic	13	32929056	32929057	ATT	A	reviewed by expert panel	ClinGen:CA024828