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
Duplication	NM_007294.4(BRCA1):c.5389dup (p.Ser1797fs)	BRCA1	Pathogenic	17	41201154	41201155	G	GA	reviewed by expert panel	ClinGen:CA10589593
Duplication	NM_007294.4(BRCA1):c.5353_5354dup (p.Gln1785fs)	BRCA1	Pathogenic	17	41201189	41201190	C	CTG	reviewed by expert panel	ClinGen:CA10589595
Deletion	NM_007294.4(BRCA1):c.5348del (p.Met1783fs)	BRCA1	Pathogenic	17	41201196	41201196	CA	C	reviewed by expert panel	ClinGen:CA10589596
Indel	NM_007294.4(BRCA1):c.5341_5343delinsTG (p.Glu1781fs)	BRCA1	Pathogenic	17	41201201	41201203	TTC	CA	reviewed by expert panel	ClinGen:CA10589597
Deletion	NM_007294.4(BRCA1):c.5302del (p.Cys1768fs)	BRCA1	Pathogenic	17	41203110	41203110	CA	C	reviewed by expert panel	ClinGen:CA10589598
single nucleotide variant	NM_007294.4(BRCA1):c.5301T>A (p.Cys1767Ter)	BRCA1	Pathogenic	17	41203111	41203111	A	T	reviewed by expert panel	ClinGen:CA10589599
Deletion	NM_007294.4(BRCA1):c.5300_5301del (p.Cys1767fs)	BRCA1	Pathogenic	17	41203111	41203112	AAC	A	reviewed by expert panel	ClinGen:CA10589600
Deletion	NM_007294.4(BRCA1):c.5299del (p.Cys1767fs)	BRCA1	Pathogenic	17	41203113	41203113	CA	C	reviewed by expert panel	ClinGen:CA10589601
Deletion	NM_007294.4(BRCA1):c.5282del (p.Phe1761fs)	BRCA1	Pathogenic	17	41203130	41203130	GA	G	reviewed by expert panel	ClinGen:CA10589602
Insertion	NM_007294.4(BRCA1):c.5267_5268insC (p.Gln1756fs)	BRCA1	Pathogenic	17	41209078	41209079	C	CG	reviewed by expert panel	ClinGen:CA10589603