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.3479_3488del (p.Lys1160fs)	BRCA1	Pathogenic	17	41244060	41244069	AGTATCTTCCT	A	reviewed by expert panel	ClinGen:CA002242
Deletion	NM_007294.4(BRCA1):c.3481del (p.Glu1161fs)	BRCA1	Pathogenic	17	41244067	41244067	TC	T	reviewed by expert panel	ClinGen:CA002245
Deletion	NM_007294.4(BRCA1):c.3494_3495del (p.Phe1165fs)	BRCA1	Pathogenic	17	41244053	41244054	CAA	C	reviewed by expert panel	ClinGen:CA002250
single nucleotide variant	NM_007294.4(BRCA1):c.34C>T (p.Gln12Ter)	BRCA1	Pathogenic	17	41276080	41276080	G	A	reviewed by expert panel	ClinGen:CA002251
Duplication	NM_007294.4(BRCA1):c.3503dup (p.Asn1168fs)	BRCA1	Pathogenic	17	41244044	41244045	A	AT	reviewed by expert panel	ClinGen:CA327875
Deletion	NM_007294.4(BRCA1):c.3505_3509del (p.Asn1168_Asp1169insTer)	BRCA1	Pathogenic	17	41244039	41244043	AATGTC	A	reviewed by expert panel	ClinGen:CA002253
single nucleotide variant	NM_007294.4(BRCA1):c.3514G>T (p.Glu1172Ter)	BRCA1	Pathogenic	17	41244034	41244034	C	A	reviewed by expert panel	ClinGen:CA002257
Deletion	NM_007294.4(BRCA1):c.3531del (p.Phe1177fs)	BRCA1	Pathogenic	17	41244017	41244017	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3650&base_change=del T,ClinGen:CA002261
Deletion	NM_007294.4(BRCA1):c.3540_3541del (p.Val1181fs)	BRCA1	Pathogenic	17	41244007	41244008	ACG	A	reviewed by expert panel	ClinGen:CA002263
single nucleotide variant	NM_007294.4(BRCA1):c.3544C>T (p.Gln1182Ter)	BRCA1	Pathogenic	17	41244004	41244004	G	A	reviewed by expert panel	ClinGen:CA002266