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.4447del (p.Ser1483fs)	BRCA1	Pathogenic	17	41228542	41228542	CT	C	reviewed by expert panel	ClinGen:CA002854
Deletion	NM_007294.4(BRCA1):c.4452_4455del (p.Thr1485fs)	BRCA1	Pathogenic	17	41228534	41228537	TGGTA	T	reviewed by expert panel	ClinGen:CA002856
Deletion	NM_007294.4(BRCA1):c.4456del (p.Ser1486fs)	BRCA1	Pathogenic	17	41228533	41228533	CT	C	reviewed by expert panel	ClinGen:CA002859
Deletion	NM_007294.4(BRCA1):c.4457del (p.Ser1486fs)	BRCA1	Pathogenic	17	41228532	41228532	AC	A	reviewed by expert panel	ClinGen:CA002860
single nucleotide variant	NM_007294.4(BRCA1):c.4480G>T (p.Glu1494Ter)	BRCA1	Pathogenic	17	41228509	41228509	C	A	reviewed by expert panel	ClinGen:CA002868
Deletion	NM_007294.4(BRCA1):c.4484+1del	BRCA1	Pathogenic	17	41228504	41228504	AC	A	reviewed by expert panel	ClinGen:CA002872
single nucleotide variant	NM_007294.4(BRCA1):c.4485-1G>A	BRCA1	Pathogenic/Likely pathogenic	17	41226539	41226539	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):4604-1&base_change=G to A,ClinGen:CA002878
single nucleotide variant	NM_007294.4(BRCA1):c.4485-2A>G	BRCA1	Pathogenic/Likely pathogenic	17	41226540	41226540	T	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):4604-2&base_change=A to G,ClinGen:CA002879
single nucleotide variant	NM_007294.4(BRCA1):c.4487C>A (p.Ser1496Ter)	BRCA1	Pathogenic	17	41226536	41226536	G	T	reviewed by expert panel	ClinGen:CA002883
single nucleotide variant	NM_007294.4(BRCA1):c.4487C>G (p.Ser1496Ter)	BRCA1	Pathogenic	17	41226536	41226536	G	C	reviewed by expert panel	ClinGen:CA002884