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.3841_3842del (p.Gln1281fs)	BRCA1	Pathogenic	17	41243706	41243707	CTG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3960&base_change=del CA,ClinGen:CA002472
Deletion	NM_007294.4(BRCA1):c.3844del (p.Glu1282fs)	BRCA1	Pathogenic	17	41243704	41243704	TC	T	reviewed by expert panel	ClinGen:CA002477
Deletion	NM_007294.4(BRCA1):c.3856del (p.Ser1286fs)	BRCA1	Pathogenic	17	41243692	41243692	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3975&base_change=del A,ClinGen:CA002484
Deletion	NM_007294.4(BRCA1):c.3862del (p.Glu1288fs)	BRCA1	Pathogenic	17	41243686	41243686	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3981&base_change=del G,ClinGen:CA002489
Deletion	NM_007294.4(BRCA1):c.3869_3870del (p.Lys1290fs)	BRCA1	Pathogenic	17	41243678	41243679	ATT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3988&base_change=del AA,ClinGen:CA002493
Insertion	NM_007294.4(BRCA1):c.3871_3872insC (p.Cys1291fs)	BRCA1	Pathogenic	17	41243676	41243677	C	CG	reviewed by expert panel	ClinGen:CA002495
Deletion	NM_007294.4(BRCA1):c.3876del (p.Ala1293fs)	BRCA1	Pathogenic	17	41243672	41243672	CA	C	reviewed by expert panel	ClinGen:CA002498
Deletion	NM_007294.4(BRCA1):c.3880_3883del (p.Ser1294fs)	BRCA1	Pathogenic	17	41243665	41243668	AAGCT	A	reviewed by expert panel	ClinGen:CA002502
single nucleotide variant	NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter)	BRCA1	Pathogenic	17	41243655	41243655	G	T	reviewed by expert panel	ClinGen:CA002504
single nucleotide variant	NM_007294.4(BRCA1):c.3895C>T (p.Gln1299Ter)	BRCA1	Pathogenic	17	41243653	41243653	G	A	reviewed by expert panel	ClinGen:CA002505