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
single nucleotide variant	NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter)	BRCA1	Pathogenic	17	41244748	41244748	G	A	reviewed by expert panel	ClinGen:CA001836
Deletion	NM_007294.4(BRCA1):c.2805del (p.Asp936fs)	BRCA1	Pathogenic	17	41244743	41244743	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2924&base_change=del A,ClinGen:CA001837
Deletion	NM_007294.4(BRCA1):c.2808_2811del (p.Lys937fs)	BRCA1	Pathogenic	17	41244737	41244740	GCTTA	G	reviewed by expert panel	ClinGen:CA001840
Deletion	NM_007294.4(BRCA1):c.2812_2813del (p.Pro938fs)	BRCA1	Pathogenic	17	41244735	41244736	TGG	T	reviewed by expert panel	ClinGen:CA001843
Indel	NM_007294.4(BRCA1):c.2812_2813delinsG (p.Pro938fs)	BRCA1	Pathogenic	17	41244735	41244736	GG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2931&base_change=del CC ins G,ClinGen:CA001844
Deletion	NM_007294.4(BRCA1):c.2830del (p.Cys944fs)	BRCA1	Pathogenic	17	41244718	41244718	CA	C	reviewed by expert panel	ClinGen:CA001847
single nucleotide variant	NM_007294.4(BRCA1):c.2832T>A (p.Cys944Ter)	BRCA1	Pathogenic	17	41244716	41244716	A	T	reviewed by expert panel	ClinGen:CA001848
Deletion	NM_007294.4(BRCA1):c.2834_2835del (p.Ser945fs)	BRCA1	Pathogenic	17	41244713	41244714	TAC	T	reviewed by expert panel	ClinGen:CA001850
Indel	NM_007294.4(BRCA1):c.2834_2836delinsC (p.Ser945fs)	BRCA1	Pathogenic	17	41244712	41244714	TAC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2953&base_change=del GTA ins C,ClinGen:CA001852
Duplication	NM_007294.4(BRCA1):c.2835dup (p.Ile946fs)	BRCA1	Pathogenic	17	41244712	41244713	T	TA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2954&base_change=ins T,ClinGen:CA001853