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.411_414del (p.Leu138fs)	BRCA1	Pathogenic	17	41256166	41256169	GTAGA	G	reviewed by expert panel	ClinGen:CA10590010
Deletion	NM_007294.4(BRCA1):c.411del (p.Leu138fs)	BRCA1	Pathogenic	17	41256169	41256169	GA	G	reviewed by expert panel	ClinGen:CA10590011
Deletion	NM_007294.4(BRCA1):c.407del (p.Arg136fs)	BRCA1	Pathogenic	17	41256173	41256173	TC	T	reviewed by expert panel	ClinGen:CA10590012
Deletion	NM_007294.4(BRCA1):c.406del (p.Arg136fs)	BRCA1	Pathogenic	17	41256174	41256174	CT	C	reviewed by expert panel	ClinGen:CA10590013
Indel	NM_007294.4(BRCA1):c.385_386delinsC (p.Gly129fs)	BRCA1	Pathogenic	17	41256194	41256195	CC	G	reviewed by expert panel	ClinGen:CA10590014
Deletion	NM_007294.4(BRCA1):c.372del (p.Ile125fs)	BRCA1	Pathogenic	17	41256208	41256208	TG	T	reviewed by expert panel	ClinGen:CA10590015
Deletion	NM_007294.4(BRCA1):c.363_364del (p.Glu121fs)	BRCA1	Pathogenic	17	41256216	41256217	ACT	A	reviewed by expert panel	ClinGen:CA10590016
Duplication	NM_007294.4(BRCA1):c.361dup (p.Glu121fs)	BRCA1	Pathogenic	17	41256218	41256219	T	TC	reviewed by expert panel	ClinGen:CA10590017
Indel	NM_007294.4(BRCA1):c.357_358delinsT (p.Lys119fs)	BRCA1	Pathogenic	17	41256222	41256223	CT	A	reviewed by expert panel	ClinGen:CA10590018
single nucleotide variant	NM_007294.4(BRCA1):c.355A>T (p.Lys119Ter)	BRCA1	Pathogenic	17	41256225	41256225	T	A	reviewed by expert panel	ClinGen:CA10590019