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.4062_4068del (p.Asn1354fs)	BRCA1	Pathogenic	17	41243480	41243486	CTTGATTA	C	reviewed by expert panel	ClinGen:CA002594
Deletion	NM_007294.4(BRCA1):c.4066_4069del (p.Gln1356fs)	BRCA1	Pathogenic	17	41243479	41243482	TCTTG	T	reviewed by expert panel	ClinGen:CA002598
Duplication	NM_007294.4(BRCA1):c.406dup (p.Arg136fs)	BRCA1	Pathogenic	17	41256173	41256174	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):525&base_change=ins A,ClinGen:CA002596
single nucleotide variant	NM_007294.4(BRCA1):c.4075C>T (p.Gln1359Ter)	BRCA1	Pathogenic	17	41243473	41243473	G	A	reviewed by expert panel	ClinGen:CA002606
Deletion	NM_007294.4(BRCA1):c.4085del (p.Asp1362fs)	BRCA1	Pathogenic	17	41243463	41243463	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4204&base_change=del A,ClinGen:CA002611
Deletion	NM_007294.4(BRCA1):c.4092_4093del (p.Leu1365fs)	BRCA1	Pathogenic	17	41243455	41243456	AAG	A	reviewed by expert panel	ClinGen:CA002613
Deletion	NM_007294.4(BRCA1):c.4094del (p.Asn1364_Leu1365insTer)	BRCA1	Pathogenic	17	41243454	41243454	TA	T	reviewed by expert panel	ClinGen:CA002615
single nucleotide variant	NM_007294.4(BRCA1):c.4097-2A>G	BRCA1	Pathogenic	17	41243051	41243051	T	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4216-2&base_change=A to G,ClinGen:CA002627
Duplication	NM_007294.4(BRCA1):c.4107_4110dup (p.Gly1371fs)	BRCA1	Pathogenic	17	41243035	41243036	C	CAGAT	reviewed by expert panel	ClinGen:CA327910
single nucleotide variant	NM_007294.4(BRCA1):c.4116T>A (p.Cys1372Ter)	BRCA1	Pathogenic	17	41243030	41243030	A	T	reviewed by expert panel	ClinGen:CA002640