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.1165del (p.Ser389fs)	BRCA1	Pathogenic	17	41246383	41246383	CT	C	reviewed by expert panel	ClinGen:CA000770,Breast Cancer Information Core (BIC) (BRCA1):1284&base_change=del A
Deletion	NM_007294.4(BRCA1):c.1166del (p.Ser389fs)	BRCA1	Pathogenic	17	41246382	41246382	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1285&base_change=del G,ClinGen:CA000771
Deletion	NM_007294.4(BRCA1):c.1175_1178del (p.Leu392fs)	BRCA1	Pathogenic	17	41246370	41246373	TAACA	T	reviewed by expert panel	ClinGen:CA000775
Deletion	NM_007294.4(BRCA1):c.1188del (p.Asp396fs)	BRCA1	Pathogenic	17	41246360	41246360	CA	C	reviewed by expert panel	ClinGen:CA000784
single nucleotide variant	NM_007294.4(BRCA1):c.1193C>A (p.Ser398Ter)	BRCA1	Pathogenic	17	41246355	41246355	G	T	reviewed by expert panel	ClinGen:CA000785
single nucleotide variant	NM_007294.4(BRCA1):c.1193C>G (p.Ser398Ter)	BRCA1	Pathogenic	17	41246355	41246355	G	C	reviewed by expert panel	ClinGen:CA000786
single nucleotide variant	NM_007294.4(BRCA1):c.1204G>T (p.Glu402Ter)	BRCA1	Pathogenic	17	41246344	41246344	C	A	reviewed by expert panel	ClinGen:CA000794
Deletion	NM_007294.4(BRCA1):c.1204del (p.Glu402fs)	BRCA1	Pathogenic	17	41246344	41246344	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1323&base_change=del G,ClinGen:CA000793
single nucleotide variant	NM_007294.4(BRCA1):c.1214C>A (p.Ser405Ter)	BRCA1	Pathogenic	17	41246334	41246334	G	T	reviewed by expert panel	ClinGen:CA000796
Deletion	NM_007294.4(BRCA1):c.1217del (p.Asn406fs)	BRCA1	Pathogenic	17	41246331	41246331	AT	A	reviewed by expert panel	ClinGen:CA000800