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.189dup (p.Cys64fs)	BRCA1	Pathogenic	17	41258495	41258496	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):308&base_change=ins A,ClinGen:CA001229
Deletion	NM_007294.4(BRCA1):c.1906del (p.Cys636fs)	BRCA1	Pathogenic	17	41245642	41245642	CA	C	reviewed by expert panel	ClinGen:CA001247
single nucleotide variant	NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg)	BRCA1	Pathogenic	17	41258495	41258495	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA001249
Deletion	NM_007294.4(BRCA1):c.190_193del (p.Cys64fs)	BRCA1	Pathogenic	17	41258492	41258495	TTACA	T	reviewed by expert panel	ClinGen:CA001242
single nucleotide variant	NM_007294.4(BRCA1):c.1912G>T (p.Glu638Ter)	BRCA1	Pathogenic	17	41245636	41245636	C	A	reviewed by expert panel	ClinGen:CA001256
Deletion	NM_007294.4(BRCA1):c.1912del (p.Glu638fs)	BRCA1	Pathogenic	17	41245636	41245636	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2031&base_change=del G,ClinGen:CA001254
single nucleotide variant	NM_007294.4(BRCA1):c.1916T>A (p.Leu639Ter)	BRCA1	Pathogenic	17	41245632	41245632	A	T	reviewed by expert panel	ClinGen:CA001259
single nucleotide variant	NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)	BRCA1	Pathogenic	17	41258494	41258494	C	T	reviewed by expert panel	ClinGen:CA001262,UniProtKB:P38398#VAR_007759
Deletion	NM_007294.4(BRCA1):c.1936del (p.Ser646fs)	BRCA1	Pathogenic	17	41245612	41245612	CT	C	reviewed by expert panel	ClinGen:CA001281
Deletion	NM_007294.4(BRCA1):c.1938_1947del (p.Ser646fs)	BRCA1	Pathogenic	17	41245601	41245610	TCTCTTCACTG	T	reviewed by expert panel	ClinGen:CA001282