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.718C>T (p.Gln240Ter)	BRCA1	Pathogenic	17	41246830	41246830	G	A	reviewed by expert panel	ClinGen:CA10589999
Deletion	NM_007294.4(BRCA1):c.707del (p.Thr236fs)	BRCA1	Pathogenic	17	41246841	41246841	AG	A	reviewed by expert panel	ClinGen:CA10590000
Deletion	NM_007294.4(BRCA1):c.704del (p.Asn235fs)	BRCA1	Pathogenic	17	41246844	41246844	AT	A	reviewed by expert panel	ClinGen:CA10590001
Deletion	NM_007294.4(BRCA1):c.689_692del (p.Glu230fs)	BRCA1	Pathogenic	17	41246856	41246859	CGTCT	C	reviewed by expert panel	ClinGen:CA10590002
Deletion	NM_007294.4(BRCA1):c.531del (p.Val178fs)	BRCA1	Pathogenic	17	41251808	41251808	CA	C	reviewed by expert panel	ClinGen:CA10590003
Deletion	NM_007294.4(BRCA1):c.518del (p.Pro173fs)	BRCA1	Pathogenic	17	41251821	41251821	AG	A	reviewed by expert panel	ClinGen:CA10590004
single nucleotide variant	NM_007294.4(BRCA1):c.502A>T (p.Lys168Ter)	BRCA1	Pathogenic	17	41251837	41251837	T	A	reviewed by expert panel	ClinGen:CA10590005
Deletion	NM_007294.4(BRCA1):c.500_501del (p.Thr167fs)	BRCA1	Pathogenic	17	41251838	41251839	TTG	T	reviewed by expert panel	ClinGen:CA10590006
Duplication	NM_007294.4(BRCA1):c.431dup (p.Asn144fs)	BRCA1	Pathogenic	17	41256148	41256149	A	AT	reviewed by expert panel	ClinGen:CA10590008
Duplication	NM_007294.4(BRCA1):c.418dup (p.Ser140fs)	BRCA1	Pathogenic	17	41256161	41256162	C	CT	reviewed by expert panel	ClinGen:CA10590009