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
Insertion	NM_007294.4(BRCA1):c.3649_3650insA (p.Ser1217fs)	BRCA1	Pathogenic	17	41243898	41243899	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3768&base_change=ins A,ClinGen:CA002336
Deletion	NM_007294.4(BRCA1):c.3714_3747del (p.Gln1240fs)	BRCA1	Pathogenic	17	41243801	41243834	CGGTAGCAACGGTGCTATGCCTAGTAGACTGAGAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3829&base_change=ins T del 35,ClinGen:CA10586619
Duplication	NM_007294.4(BRCA1):c.3766dup (p.Thr1256fs)	BRCA1	Pathogenic	17	41243781	41243782	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3885&base_change=ins A,ClinGen:CA002421
Deletion	NM_007294.4(BRCA1):c.3771_3772del (p.Asn1259fs)	BRCA1	Pathogenic	17	41243776	41243777	TCC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3890&base_change=del GG,ClinGen:CA002425
Insertion	NM_007294.4(BRCA1):c.3778_3779insA (p.Leu1260fs)	BRCA1	Pathogenic	17	41243769	41243770	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3897&base_change=ins A,ClinGen:CA002433
Duplication	NM_007294.4(BRCA1):c.3830dup (p.Ala1279fs)	BRCA1	Pathogenic	17	41243717	41243718	T	TG	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3949&base_change=ins C,ClinGen:CA002467
Deletion	NM_007294.4(BRCA1):c.3867_3871del (p.Lys1290fs)	BRCA1	Pathogenic	17	41243677	41243681	CATTTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3986&base_change=del AAAAT,ClinGen:CA002490
Duplication	NM_007294.4(BRCA1):c.3908dup (p.Leu1303fs)	BRCA1	Pathogenic	17	41243639	41243640	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4027&base_change=ins T,ClinGen:CA002514
Indel	NM_007294.3(BRCA1):c.288_292delCACAGins7	BRCA1	Pathogenic	17	41256894	41256898	na	na	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA1):407&base_change=del CACAG ins 7
Insertion	NM_007294.4(BRCA1):c.4050_4051insG (p.Leu1351fs)	BRCA1	Pathogenic	17	41243497	41243498	A	AC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4169&base_change=ins G,ClinGen:CA002585