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
Duplication	NM_007294.4(BRCA1):c.3243_3288dup (p.Ser1097delinsCysTyrAlaTer)	BRCA1	Pathogenic	17	41244259	41244260	T	TTTGTTTATAGACCTCAGGTTGCAAAACCCCTAATCTAAGCATAGCA	reviewed by expert panel	ClinGen:CA10589768
single nucleotide variant	NM_007294.4(BRCA1):c.3282T>G (p.Tyr1094Ter)	BRCA1	Pathogenic	17	41244266	41244266	A	C	reviewed by expert panel	ClinGen:CA10589769
Deletion	NM_007294.4(BRCA1):c.3262_3277del (p.Val1088fs)	BRCA1	Pathogenic	17	41244271	41244286	ACCTCAGGTTGCAAAAC	A	reviewed by expert panel	ClinGen:CA10589770
single nucleotide variant	NM_007294.4(BRCA1):c.3266T>A (p.Leu1089Ter)	BRCA1	Pathogenic	17	41244282	41244282	A	T	reviewed by expert panel	ClinGen:CA10589771
Deletion	NM_007294.4(BRCA1):c.3266del (p.Leu1089fs)	BRCA1	Pathogenic	17	41244282	41244282	CA	C	reviewed by expert panel	ClinGen:CA10589772
Deletion	NM_007294.4(BRCA1):c.3258del (p.Val1088fs)	BRCA1	Pathogenic	17	41244290	41244290	CT	C	reviewed by expert panel	ClinGen:CA10589773
Deletion	NM_007294.4(BRCA1):c.3217_3218del (p.Leu1072_Gly1073insTer)	BRCA1	Pathogenic	17	41244330	41244331	ACC	A	reviewed by expert panel	ClinGen:CA10589774
Duplication	NM_007294.4(BRCA1):c.3211_3212dup (p.Leu1072fs)	BRCA1	Pathogenic	17	41244335	41244336	T	TTC	reviewed by expert panel	ClinGen:CA10589775
Duplication	NM_007294.4(BRCA1):c.3210dup (p.Glu1071fs)	BRCA1	Pathogenic	17	41244337	41244338	C	CT	reviewed by expert panel	ClinGen:CA10589776
Duplication	NM_007294.4(BRCA1):c.3150_3208dup (p.Ala1070delinsValLeuMetLysTrpAlaProValLeuMetLysTer)	BRCA1	Pathogenic	17	41244339	41244340	G	GCTTGAATGTTTTCATCACTGGAACCTATTTCATTAATACTGGAGCCCACTTCATTAGTA	reviewed by expert panel	ClinGen:CA10589777