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
Insertion	NM_000059.4(BRCA2):c.4097_4098insCATC (p.Lys1367fs)	BRCA2	Pathogenic	13	32912589	32912590	T	TCATC	reviewed by expert panel	ClinGen:CA019522
Deletion	NM_000059.4(BRCA2):c.4101del (p.Lys1367fs)	BRCA2	Pathogenic	13	32912591	32912591	TA	T	reviewed by expert panel	ClinGen:CA019531
Duplication	NM_000059.4(BRCA2):c.4101dup (p.Leu1368fs)	BRCA2	Pathogenic	13	32912590	32912591	T	TA	reviewed by expert panel	ClinGen:CA019525
Deletion	NM_000059.4(BRCA2):c.410del (p.Ser137fs)	BRCA2	Pathogenic	13	32899306	32899306	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):638&base_change=del C,ClinGen:CA019541
single nucleotide variant	NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter)	BRCA2	Pathogenic	13	32912603	32912603	C	T	reviewed by expert panel	ClinGen:CA019545
Deletion	NM_000059.4(BRCA2):c.4121del (p.Lys1374fs)	BRCA2	Pathogenic	13	32912612	32912612	GA	G	reviewed by expert panel	ClinGen:CA019557
Deletion	NM_000059.4(BRCA2):c.4130del (p.Asn1377fs)	BRCA2	Pathogenic	13	32912620	32912620	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4358&base_change=del A,ClinGen:CA019568
Deletion	NM_000059.4(BRCA2):c.4133_4136del (p.Thr1378fs)	BRCA2	Pathogenic	13	32912623	32912626	ACACT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4361&base_change=del CTCA,ClinGen:CA019576
Duplication	NM_000059.4(BRCA2):c.4136dup (p.Ile1380fs)	BRCA2	Pathogenic	13	32912627	32912628	C	CA	reviewed by expert panel	ClinGen:CA019581
Deletion	NM_000059.4(BRCA2):c.4137_4141del (p.Ile1380fs)	BRCA2	Pathogenic	13	32912628	32912632	CAGATT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4365&base_change=del GATTA,ClinGen:CA019585