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.69dup (p.Cys24fs)	BRCA1	Pathogenic	17	41276044	41276045	A	AC	reviewed by expert panel	ClinGen:CA10590042
single nucleotide variant	NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg)	BRCA1	Pathogenic/Likely pathogenic	17	41276044	41276044	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA003829
Insertion	NM_007294.4(BRCA1):c.70_71insTGTC (p.Cys24fs)	BRCA1	Pathogenic	17	41276043	41276044	C	CGACA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):189&base_change=ins TGTC,ClinGen:CA003825
Insertion	NM_007294.4(BRCA1):c.70_71insA (p.Cys24Ter)	BRCA1	Pathogenic	17	41276043	41276044	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):189&base_change=ins A,ClinGen:CA003824
single nucleotide variant	NM_007294.4(BRCA1):c.72T>G (p.Cys24Trp)	BRCA1	Pathogenic	17	41276042	41276042	A	C	criteria provided, single submitter	-
Insertion	NM_007294.4(BRCA1):c.71_72insA (p.Cys24Ter)	BRCA1	Pathogenic	17	41276042	41276043	A	AT	reviewed by expert panel	-
Insertion	NM_007294.4(BRCA1):c.72_73insGTCT (p.Pro25fs)	BRCA1	Pathogenic	17	41276041	41276042	G	GAGAC	reviewed by expert panel	-
Deletion	NM_007294.4(BRCA1):c.72_73del (p.Pro25fs)	BRCA1	Pathogenic	17	41276041	41276042	GGA	G	reviewed by expert panel	ClinGen:CA003836
Duplication	NM_007294.4(BRCA1):c.70_73dup (p.Pro25fs)	BRCA1	Pathogenic	17	41276040	41276041	G	GGACA	reviewed by expert panel	ClinGen:CA328042
Deletion	NM_007294.4(BRCA1):c.74_75del (p.Pro25fs)	BRCA1	Pathogenic	17	41276039	41276040	TGG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):192&base_change=del CC,ClinGen:CA003843