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_007294.4(BRCA1):c.1623dup (p.Asn542fs)	BRCA1	Pathogenic	17	41245924	41245925	T	TC	reviewed by expert panel	ClinGen:CA327757
single nucleotide variant	NM_007294.4(BRCA1):c.1630C>T (p.Gln544Ter)	BRCA1	Pathogenic	17	41245918	41245918	G	A	reviewed by expert panel	ClinGen:CA001081
Deletion	NM_007294.4(BRCA1):c.1636_1654del (p.Met546fs)	BRCA1	Pathogenic	17	41245894	41245912	CCACTATTAGTAATATTCAT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1755&base_change=del 19,ClinGen:CA001085
Deletion	NM_007294.4(BRCA1):c.1649del (p.Asn550fs)	BRCA1	Pathogenic	17	41245899	41245899	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1768&base_change=del A,ClinGen:CA001091
single nucleotide variant	NM_007294.4(BRCA1):c.1660G>T (p.Glu554Ter)	BRCA1	Pathogenic	17	41245888	41245888	C	A	reviewed by expert panel	ClinGen:CA001096
Deletion	NM_007294.4(BRCA1):c.1673_1674del (p.Lys558fs)	BRCA1	Pathogenic	17	41245874	41245875	CTT	C	reviewed by expert panel	ClinGen:CA001102
Deletion	NM_007294.4(BRCA1):c.1700del (p.Asn567fs)	BRCA1	Pathogenic	17	41245848	41245848	AT	A	reviewed by expert panel	ClinGen:CA001113
Deletion	NM_007294.4(BRCA1):c.1713_1717del (p.Glu572fs)	BRCA1	Pathogenic	17	41245831	41245835	GATTCT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1832&base_change=del AGAAT,ClinGen:CA001122
Deletion	NM_007294.4(BRCA1):c.1716del (p.Glu572fs)	BRCA1	Pathogenic	17	41245832	41245832	AT	A	reviewed by expert panel	ClinGen:CA001125
Duplication	NM_007294.4(BRCA1):c.1716dup (p.Ser573fs)	BRCA1	Pathogenic	17	41245831	41245832	A	AT	reviewed by expert panel	ClinGen:CA327771