遺伝性乳がん・卵巣がん症候群

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.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
Insertion	NM_007294.4(BRCA1):c.4397_4398insA (p.Ser1466fs)	BRCA1	Pathogenic	17	41228591	41228592	G	GT	reviewed by expert panel	ClinGen:CA10589665
single nucleotide variant	NM_007294.4(BRCA1):c.4375A>T (p.Lys1459Ter)	BRCA1	Pathogenic	17	41228614	41228614	T	A	reviewed by expert panel	ClinGen:CA10589666
single nucleotide variant	NM_007294.4(BRCA1):c.4364T>G (p.Leu1455Ter)	BRCA1	Pathogenic	17	41228625	41228625	A	C	reviewed by expert panel	ClinGen:CA10589667
single nucleotide variant	NM_007294.4(BRCA1):c.4349C>G (p.Ser1450Ter)	BRCA1	Pathogenic	17	41234429	41234429	G	C	reviewed by expert panel	ClinGen:CA10589668