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.4576G>T (p.Glu1526Ter)	BRCA1	Pathogenic	17	41226447	41226447	C	A	reviewed by expert panel	ClinGen:CA10581598
Deletion	NM_007294.4(BRCA1):c.4570del (p.Ser1524fs)	BRCA1	Pathogenic	17	41226453	41226453	GA	G	reviewed by expert panel	ClinGen:CA10581599
Duplication	NM_007294.4(BRCA1):c.2933dup (p.Tyr978Ter)	BRCA1	Pathogenic	17	41244614	41244615	A	AT	reviewed by expert panel	ClinGen:CA10581600
Duplication	NM_007294.4(BRCA1):c.2805dup (p.Asp936fs)	BRCA1	Pathogenic	17	41244742	41244743	C	CT	reviewed by expert panel	ClinGen:CA10581601
Insertion	NM_007294.4(BRCA1):c.2562_2563insGC (p.Gln855fs)	BRCA1	Pathogenic	17	41244985	41244986	G	GGC	reviewed by expert panel	ClinGen:CA10581602
Insertion	NM_007294.4(BRCA1):c.1881_1882insCC (p.Ser628fs)	BRCA1	Pathogenic	17	41245666	41245667	T	TGG	reviewed by expert panel	ClinGen:CA10581603
single nucleotide variant	NM_007294.4(BRCA1):c.1150G>T (p.Glu384Ter)	BRCA1	Pathogenic	17	41246398	41246398	C	A	reviewed by expert panel	ClinGen:CA10581604
single nucleotide variant	NM_007294.4(BRCA1):c.441+2T>G	BRCA1	Pathogenic	17	41256137	41256137	A	C	reviewed by expert panel	ClinGen:CA10581605
Duplication	NM_007294.4(BRCA1):c.64_65dup (p.Leu22fs)	BRCA1	Pathogenic	17	41276048	41276049	T	TAA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):184&base_change=ins TT,ClinGen:CA003777
Deletion	NM_000059.4(BRCA2):c.342_343del (p.His114fs)	BRCA2	Pathogenic	13	32899237	32899238	CAT	C	reviewed by expert panel	ClinGen:CA10583065