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.4573C>T (p.Gln1525Ter)	BRCA1	Pathogenic	17	41226450	41226450	G	A	reviewed by expert panel	ClinGen:CA10589655
Deletion	NM_007294.4(BRCA1):c.4569_4572del (p.Ser1524fs)	BRCA1	Pathogenic	17	41226451	41226454	GAGAT	G	reviewed by expert panel	ClinGen:CA10589656
Insertion	NM_007294.4(BRCA1):c.4569_4570insCC (p.Ser1524fs)	BRCA1	Pathogenic	17	41226453	41226454	A	AGG	reviewed by expert panel	ClinGen:CA10589657
single nucleotide variant	NM_007294.4(BRCA1):c.4566C>G (p.Tyr1522Ter)	BRCA1	Pathogenic	17	41226457	41226457	G	C	reviewed by expert panel	ClinGen:CA10589658
single nucleotide variant	NM_007294.4(BRCA1):c.4566C>A (p.Tyr1522Ter)	BRCA1	Pathogenic	17	41226457	41226457	G	T	reviewed by expert panel	ClinGen:CA10589659
single nucleotide variant	NM_007294.4(BRCA1):c.4527C>A (p.Tyr1509Ter)	BRCA1	Pathogenic	17	41226496	41226496	G	T	reviewed by expert panel	ClinGen:CA10589660
single nucleotide variant	NM_007294.4(BRCA1):c.4503C>A (p.Cys1501Ter)	BRCA1	Pathogenic	17	41226520	41226520	G	T	reviewed by expert panel	ClinGen:CA10589661
Deletion	NM_007294.4(BRCA1):c.4453_4474del (p.Thr1485fs)	BRCA1	Pathogenic	17	41228515	41228536	CCTGGTTCTTTATTTTTACTGGT	C	reviewed by expert panel	ClinGen:CA10589662
Deletion	NM_007294.4(BRCA1):c.4417del (p.Ser1473fs)	BRCA1	Pathogenic	17	41228572	41228572	GA	G	reviewed by expert panel	ClinGen:CA10589663
single nucleotide variant	NM_007294.4(BRCA1):c.4408G>T (p.Glu1470Ter)	BRCA1	Pathogenic	17	41228581	41228581	C	A	reviewed by expert panel	ClinGen:CA10589664