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_007294.4(BRCA1):c.1080C>A (p.Cys360Ter)	BRCA1	Pathogenic	17	41246468	41246468	G	T	reviewed by expert panel	ClinGen:CA10586659
single nucleotide variant	NM_007294.4(BRCA1):c.1044T>A (p.Cys348Ter)	BRCA1	Pathogenic	17	41246504	41246504	A	T	reviewed by expert panel	ClinGen:CA10586660
Deletion	NM_007294.4(BRCA1):c.1039del (p.Leu347fs)	BRCA1	Pathogenic	17	41246509	41246509	AG	A	reviewed by expert panel	ClinGen:CA8589953
Duplication	NM_007294.4(BRCA1):c.1018dup (p.Val340fs)	BRCA1	Pathogenic	17	41246529	41246530	A	AC	reviewed by expert panel	ClinGen:CA10586661
Insertion	NM_007294.4(BRCA1):c.954_955insGT (p.Asn319fs)	BRCA1	Pathogenic	17	41246593	41246594	T	TAC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1072&base_change=ins TG,ClinGen:CA003982
Deletion	NM_007294.4(BRCA1):c.897del (p.Glu300fs)	BRCA1	Pathogenic	17	41246651	41246651	CT	C	reviewed by expert panel	ClinGen:CA10586662
Deletion	NM_007294.4(BRCA1):c.875del (p.Leu292fs)	BRCA1	Pathogenic	17	41246673	41246673	GA	G	reviewed by expert panel	ClinGen:CA10586663
single nucleotide variant	NM_007294.4(BRCA1):c.856G>T (p.Glu286Ter)	BRCA1	Pathogenic	17	41246692	41246692	C	A	reviewed by expert panel	ClinGen:CA10586664
Duplication	NM_007294.4(BRCA1):c.841_842dup (p.Ser281fs)	BRCA1	Pathogenic	17	41246705	41246706	G	GCT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):961&base_change=ins AG,ClinGen:CA003934
single nucleotide variant	NM_007294.4(BRCA1):c.784C>T (p.Gln262Ter)	BRCA1	Pathogenic	17	41246764	41246764	G	A	reviewed by expert panel	ClinGen:CA10586665