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
Deletion	NM_007294.4(BRCA1):c.1977_1978del (p.Val660fs)	BRCA1	Pathogenic	17	41245570	41245571	ACT	A	reviewed by expert panel	ClinGen:CA057671
Deletion	NM_007294.4(BRCA1):c.1961_1962del (p.Lys654fs)	BRCA1	Pathogenic	17	41245586	41245587	ACT	A	reviewed by expert panel	ClinGen:CA10586653
Duplication	NM_007294.4(BRCA1):c.1842_1843dup (p.Ser615fs)	BRCA1	Pathogenic	17	41245704	41245705	G	GAC	reviewed by expert panel	ClinGen:CA8589950
Deletion	NM_007294.4(BRCA1):c.1839_1840del (p.Lys614fs)	BRCA1	Pathogenic	17	41245708	41245709	TTC	T	reviewed by expert panel	ClinGen:CA057553
Deletion	NM_007294.4(BRCA1):c.1826del (p.Asn609fs)	BRCA1	Pathogenic	17	41245722	41245722	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1944&base_change=del A,ClinGen:CA001187
Deletion	NM_007294.4(BRCA1):c.1733_1734del (p.Ser578fs)	BRCA1	Pathogenic	17	41245814	41245815	CAG	C	reviewed by expert panel	ClinGen:CA10586654
Duplication	NM_007294.4(BRCA1):c.1650dup (p.Ser551Ter)	BRCA1	Pathogenic	17	41245897	41245898	T	TA	reviewed by expert panel	ClinGen:CA8589952
single nucleotide variant	NM_007294.4(BRCA1):c.1543G>T (p.Glu515Ter)	BRCA1	Pathogenic	17	41246005	41246005	C	A	reviewed by expert panel	ClinGen:CA10586655
Deletion	NM_007294.4(BRCA1):c.1257del (p.Asp420fs)	BRCA1	Pathogenic	17	41246291	41246291	CT	C	reviewed by expert panel	ClinGen:CA10586656
Deletion	NM_007294.4(BRCA1):c.1190del (p.Asp397fs)	BRCA1	Pathogenic	17	41246358	41246358	GT	G	reviewed by expert panel	ClinGen:CA057081