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
Duplication	NM_000059.4(BRCA2):c.4470dup (p.Leu1491fs)	BRCA2	Pathogenic	13	32912961	32912962	T	TA	reviewed by expert panel	ClinGen:CA020221
Deletion	NM_000059.4(BRCA2):c.4472_4475del (p.Leu1491fs)	BRCA2	Pathogenic	13	32912964	32912967	CTGAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4700&base_change=del TGAA,ClinGen:CA020231
Duplication	NM_000059.4(BRCA2):c.4631dup (p.Asn1544fs)	BRCA2	Pathogenic	13	32913118	32913119	G	GA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4859&base_change=ins A,ClinGen:CA020554
Deletion	NM_000059.4(BRCA2):c.4631del (p.Asn1544fs)	BRCA2	Pathogenic	13	32913119	32913119	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4859&base_change=del A,ClinGen:CA020560
Deletion	NM_000059.4(BRCA2):c.4638del (p.Phe1546fs)	BRCA2	Pathogenic	13	32913126	32913126	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):4866&base_change=del T,ClinGen:CA020572
Deletion	NM_000059.4(BRCA2):c.475+4del	BRCA2	Pathogenic/Likely pathogenic	13	32900291	32900291	AT	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA2):703+4&base_change=del T,ClinGen:CA020770
single nucleotide variant	NM_000059.4(BRCA2):c.476-1G>A	BRCA2	Pathogenic/Likely pathogenic	13	32900378	32900378	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020789
single nucleotide variant	NM_000059.4(BRCA2):c.476-2A>G	BRCA2	Pathogenic	13	32900377	32900377	A	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):704-2&base_change=A to G,ClinGen:CA020792
Deletion	NM_000059.4(BRCA2):c.4876_4877del (p.Asn1626fs)	BRCA2	Pathogenic	13	32913368	32913369	GAA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5104&base_change=del AA,ClinGen:CA020941
Deletion	NM_000059.4(BRCA2):c.4921_4924del (p.Glu1641fs)	BRCA2	Pathogenic	13	32913413	32913416	TGAAA	T	reviewed by expert panel	ClinGen:CA021008