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.4255G>T (p.Glu1419Ter)	BRCA1	Pathogenic	17	41234523	41234523	C	A	reviewed by expert panel	ClinGen:CA10589675
Deletion	NM_007294.4(BRCA1):c.4239del (p.Glu1413fs)	BRCA1	Pathogenic	17	41234539	41234539	GT	G	reviewed by expert panel	ClinGen:CA10589676
single nucleotide variant	NM_007294.4(BRCA1):c.4225C>T (p.Gln1409Ter)	BRCA1	Pathogenic	17	41234553	41234553	G	A	reviewed by expert panel	ClinGen:CA10589677
Deletion	NM_007294.4(BRCA1):c.4218del (p.Lys1406fs)	BRCA1	Pathogenic	17	41234560	41234560	GC	G	reviewed by expert panel	ClinGen:CA10589678
single nucleotide variant	NM_007294.4(BRCA1):c.4216A>T (p.Lys1406Ter)	BRCA1	Pathogenic	17	41234562	41234562	T	A	reviewed by expert panel	ClinGen:CA10589679
Deletion	NM_007294.4(BRCA1):c.4206_4207del (p.His1402fs)	BRCA1	Pathogenic	17	41234571	41234572	TTA	T	reviewed by expert panel	ClinGen:CA10589680
Deletion	NM_007294.4(BRCA1):c.4205del (p.His1402fs)	BRCA1	Pathogenic	17	41234573	41234573	AT	A	reviewed by expert panel	ClinGen:CA10589681
Deletion	NM_007294.4(BRCA1):c.4197del (p.Met1400fs)	BRCA1	Pathogenic	17	41234581	41234581	TG	T	reviewed by expert panel	ClinGen:CA10589682
Deletion	NM_007294.4(BRCA1):c.4175del (p.Ile1391_Leu1392insTer)	BRCA1	Pathogenic	17	41242971	41242971	TA	T	reviewed by expert panel	ClinGen:CA10589683
Deletion	NM_007294.4(BRCA1):c.4162_4163del (p.Gln1388fs)	BRCA1	Pathogenic	17	41242983	41242984	CTG	C	reviewed by expert panel	ClinGen:CA10589684