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.958del (p.Arg320fs)	BRCA1	Pathogenic	17	41246590	41246590	CT	C	reviewed by expert panel	ClinGen:CA10589978
Deletion	NM_007294.4(BRCA1):c.953del (p.His318fs)	BRCA1	Pathogenic	17	41246595	41246595	AT	A	reviewed by expert panel	ClinGen:CA10589979
single nucleotide variant	NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter)	BRCA1	Pathogenic	17	41246623	41246623	T	A	reviewed by expert panel	ClinGen:CA10589980
Deletion	NM_007294.4(BRCA1):c.923_924del (p.Ser308fs)	BRCA1	Pathogenic	17	41246624	41246625	TGC	T	reviewed by expert panel	ClinGen:CA10589981
single nucleotide variant	NM_007294.4(BRCA1):c.898G>T (p.Glu300Ter)	BRCA1	Pathogenic	17	41246650	41246650	C	A	reviewed by expert panel	ClinGen:CA10589982
Deletion	NM_007294.4(BRCA1):c.874del (p.Leu292fs)	BRCA1	Pathogenic	17	41246674	41246674	AG	A	reviewed by expert panel	ClinGen:CA10589983
Duplication	NM_007294.4(BRCA1):c.873dup (p.Leu292fs)	BRCA1	Pathogenic	17	41246674	41246675	G	GT	reviewed by expert panel	ClinGen:CA10589984
Duplication	NM_007294.4(BRCA1):c.861_862dup (p.Ser288fs)	BRCA1	Pathogenic	17	41246685	41246686	C	CTG	reviewed by expert panel	ClinGen:CA10589985
Deletion	NM_007294.4(BRCA1):c.862del (p.Ser288fs)	BRCA1	Pathogenic	17	41246686	41246686	CT	C	reviewed by expert panel	ClinGen:CA10589986
Deletion	NM_007294.4(BRCA1):c.829_836del (p.Asn277fs)	BRCA1	Pathogenic	17	41246712	41246719	ATGAGTATT	A	reviewed by expert panel	ClinGen:CA10589987