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.4243del (p.Glu1415fs)	BRCA1	Pathogenic	17	41234535	41234535	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4362&base_change=del G,ClinGen:CA002727
single nucleotide variant	NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter)	BRCA1	Pathogenic	17	41256153	41256153	C	A	reviewed by expert panel	ClinGen:CA002746
single nucleotide variant	NM_007294.4(BRCA1):c.4357+1G>A	BRCA1	Pathogenic	17	41234420	41234420	C	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4476+1&base_change=G to A,BRCA1-HCI:BRCA1_00138,ClinGen:CA002787
Deletion	NM_007294.4(BRCA1):c.4387del (p.Tyr1463fs)	BRCA1	Pathogenic	17	41228602	41228602	TA	T	reviewed by expert panel	ClinGen:CA002812
Indel	NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs)	BRCA1	Pathogenic	17	41228596	41228598	TAG	AA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4510&base_change=del CTA ins TT,ClinGen:CA002815
Deletion	NM_007294.4(BRCA1):c.4391del (p.Pro1464fs)	BRCA1	Pathogenic	17	41228598	41228598	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4510&base_change=del C,ClinGen:CA002818
Deletion	NM_007294.4(BRCA1):c.4393del (p.Pro1464_Ile1465insTer)	BRCA1	Pathogenic	17	41228596	41228596	AT	A	reviewed by expert panel	ClinGen:CA002820
Duplication	NM_007294.4(BRCA1):c.4427dup (p.Phe1477fs)	BRCA1	Pathogenic	17	41228561	41228562	C	CT	reviewed by expert panel	ClinGen:CA002851
Deletion	NM_007294.4(BRCA1):c.4482_4483del (p.Arg1495fs)	BRCA1	Pathogenic	17	41228506	41228507	CTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4601&base_change=del AA,ClinGen:CA002869
single nucleotide variant	NM_007294.4(BRCA1):c.4484+1G>A	BRCA1	Pathogenic	17	41228504	41228504	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):4603+1&base_change=G to A,ClinGen:CA002873