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_007294.4(BRCA1):c.32_33insC (p.Gln12fs)	BRCA1	Pathogenic	17	41276081	41276082	T	TG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):151&base_change=ins C,ClinGen:CA002093
single nucleotide variant	NM_007294.4(BRCA1):c.34C>T (p.Gln12Ter)	BRCA1	Pathogenic	17	41276080	41276080	G	A	reviewed by expert panel	ClinGen:CA002251
Duplication	NM_007294.4(BRCA1):c.34dup (p.Gln12fs)	BRCA1	Pathogenic	17	41276079	41276080	T	TG	reviewed by expert panel	-
Deletion	NM_007294.4(BRCA1):c.36_39del (p.Asn13fs)	BRCA1	Pathogenic	17	41276075	41276078	CATTT	C	reviewed by expert panel	ClinGen:CA10590048
Deletion	NM_007294.4(BRCA1):c.40del (p.Val14fs)	BRCA1	Pathogenic	17	41276074	41276074	AC	A	reviewed by expert panel	ClinGen:CA10590047
Deletion	NM_007294.4(BRCA1):c.37_40del (p.Asn13fs)	BRCA1	Pathogenic	17	41276074	41276077	ACATT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):156&base_change=del AATG,ClinGen:CA002398
Deletion	NM_007294.4(BRCA1):c.40_41del (p.Val14fs)	BRCA1	Pathogenic	17	41276073	41276074	GAC	G	reviewed by expert panel	ClinGen:CA10590046
Deletion	NM_007294.4(BRCA1):c.45del (p.Asn16fs)	BRCA1	Pathogenic	17	41276069	41276069	TA	T	reviewed by expert panel	ClinGen:CA002922
Duplication	NM_007294.4(BRCA1):c.45dup (p.Asn16Ter)	BRCA1	Pathogenic	17	41276068	41276069	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.19_47del (p.Arg7fs)	BRCA1	Pathogenic	17	41276067	41276095	ATTAATGACATTTTGTACTTCTTCAACGCG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):138&base_change=del 29,ClinGen:CA001288