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
Deletion	NM_007294.4(BRCA1):c.1276del (p.Ser426fs)	BRCA1	Pathogenic	17	41246272	41246272	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1395&base_change=del T,ClinGen:CA000838
single nucleotide variant	NM_007294.4(BRCA1):c.1279G>T (p.Glu427Ter)	BRCA1	Pathogenic	17	41246269	41246269	C	A	reviewed by expert panel	ClinGen:CA000839
Duplication	NM_007294.4(BRCA1):c.1287dup (p.Asp430fs)	BRCA1	Pathogenic	17	41246260	41246261	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1406&base_change=ins A,ClinGen:CA000841
single nucleotide variant	NM_007294.4(BRCA1):c.1292T>G (p.Leu431Ter)	BRCA1	Pathogenic	17	41246256	41246256	A	C	reviewed by expert panel	ClinGen:CA000845,OMIM:113705.0044
Duplication	NM_007294.4(BRCA1):c.1292dup (p.Leu431fs)	BRCA1	Pathogenic	17	41246255	41246256	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1411&base_change=ins T,ClinGen:CA000843
Indel	NM_007294.4(BRCA1):c.1293_1295delinsGA (p.Leu432fs)	BRCA1	Pathogenic	17	41246253	41246255	AGT	TC	reviewed by expert panel	ClinGen:CA000846
Deletion	NM_007294.4(BRCA1):c.1297del (p.Ala433fs)	BRCA1	Pathogenic	17	41246251	41246251	GC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1416&base_change=del G,ClinGen:CA000849
single nucleotide variant	NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser)	BRCA1	Pathogenic	17	41267747	41267747	A	T	reviewed by expert panel	BRCA1-HCI:BRCA1_00115,ClinGen:CA000854
single nucleotide variant	NM_007294.4(BRCA1):c.130T>C (p.Cys44Arg)	BRCA1	Pathogenic	17	41267747	41267747	A	G	criteria provided, single submitter	ClinGen:CA000855
Deletion	NM_007294.4(BRCA1):c.130del (p.Cys44fs)	BRCA1	Pathogenic	17	41267747	41267747	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):249&base_change=del T,ClinGen:CA000853