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.1512dup (p.Lys505Ter)	BRCA1	Pathogenic	17	41246035	41246036	T	TA	reviewed by expert panel	ClinGen:CA001020
Deletion	NM_007294.4(BRCA1):c.1628del (p.Gly543fs)	BRCA1	Pathogenic	17	41245920	41245920	AC	A	reviewed by expert panel	ClinGen:CA001080
Deletion	NM_007294.4(BRCA1):c.1744del (p.Thr582fs)	BRCA1	Pathogenic	17	41245804	41245804	GT	G	reviewed by expert panel	ClinGen:CA001142
Deletion	NM_007294.4(BRCA1):c.1759del (p.Pro586_Ile587insTer)	BRCA1	Pathogenic	17	41245789	41245789	AT	A	reviewed by expert panel	ClinGen:CA001149
Deletion	NM_007294.4(BRCA1):c.1875del (p.Leu625_Val626insTer)	BRCA1	Pathogenic	17	41245673	41245673	CT	C	reviewed by expert panel	ClinGen:CA001218
Deletion	NM_007294.4(BRCA1):c.1921del (p.Ile641fs)	BRCA1	Pathogenic	17	41245627	41245627	AT	A	reviewed by expert panel	ClinGen:CA001268
Deletion	NM_007294.4(BRCA1):c.2070_2071del (p.Arg691fs)	BRCA1	Pathogenic	17	41245477	41245478	CTT	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):2189&base_change=del AA,ClinGen:CA001370
Deletion	NM_007294.4(BRCA1):c.2131_2132del (p.Lys711fs)	BRCA1	Pathogenic	17	41245416	41245417	CTT	C	reviewed by expert panel	ClinGen:CA001425
Deletion	NM_007294.4(BRCA1):c.2199del (p.Lys734fs)	BRCA1	Pathogenic	17	41245349	41245349	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2318&base_change=del G,ClinGen:CA001469
Duplication	NM_007294.4(BRCA1):c.2386dup (p.Thr796fs)	BRCA1	Pathogenic	17	41245161	41245162	G	GT	reviewed by expert panel	ClinGen:CA001582