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.4616dup (p.Glu1540fs)	BRCA1	Pathogenic	17	41226406	41226407	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656631
Duplication	NM_007294.4(BRCA1):c.3954dup (p.Gly1319fs)	BRCA1	Pathogenic	17	41243593	41243594	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656672
Deletion	NM_007294.4(BRCA1):c.2228del (p.Asn743fs)	BRCA1	Pathogenic	17	41245320	41245320	AT	A	criteria provided, single submitter	ClinGen:CA658656729
Deletion	NM_007294.4(BRCA1):c.2162_2163del (p.Phe721fs)	BRCA1	Pathogenic	17	41245385	41245386	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656732
single nucleotide variant	NM_007294.4(BRCA1):c.97G>T (p.Glu33Ter)	BRCA1	Pathogenic	17	41267780	41267780	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10601958
single nucleotide variant	NM_002878.4(RAD51D):c.343C>T (p.Gln115Ter)	RAD51D	Pathogenic	17	33434387	33434387	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399089884
Deletion	NM_007294.4(BRCA1):c.3103_3104del (p.Val1035fs)	BRCA1	Pathogenic	17	41244444	41244445	AAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656627
Deletion	NM_007294.4(BRCA1):c.1091_1092del (p.Pro364fs)	BRCA1	Pathogenic/Likely pathogenic	17	41246456	41246457	TAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656797
Deletion	NM_058216.3(RAD51C):c.535del (p.His179fs)	RAD51C	Pathogenic	17	56774184	56774184	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658641
single nucleotide variant	NM_058216.3(RAD51C):c.994C>T (p.Gln332Ter)	RAD51C	Likely pathogenic	17	56809873	56809873	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA400364974