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_058216.3(RAD51C):c.965+1G>A	RAD51C	Likely pathogenic	17	56801462	56801462	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA299893
single nucleotide variant	NM_000059.4(BRCA2):c.7802A>G (p.Tyr2601Cys)	BRCA2	Likely pathogenic	13	32932063	32932063	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA025278
single nucleotide variant	NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter)	RAD51D	Likely pathogenic	17	33428225	33428225	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA190870
Deletion	NM_002878.4(RAD51D):c.898del (p.Arg300fs)	RAD51D	Likely pathogenic	17	33428225	33428225	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA192195
single nucleotide variant	NM_002878.4(RAD51D):c.82+1G>A	RAD51D	Likely pathogenic	17	33446550	33446550	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA194190
Deletion	NM_007294.4(BRCA1):c.212+1del	BRCA1	Likely pathogenic	17	41258472	41258472	AC	A	criteria provided, single submitter	ClinGen:CA001404
Deletion	NM_000059.4(BRCA2):c.67+2del	BRCA2	Likely pathogenic	13	32890666	32890666	GT	G	criteria provided, single submitter	ClinGen:CA335821
single nucleotide variant	NM_000059.4(BRCA2):c.1909+2T>A	BRCA2	Likely pathogenic	13	32907526	32907526	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579514
Deletion	NM_000059.4(BRCA2):c.7436-2_7437del	BRCA2	Likely pathogenic	13	32930560	32930563	TGATA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579738
single nucleotide variant	NM_000059.4(BRCA2):c.7880T>A (p.Ile2627Asn)	BRCA2	Likely pathogenic	13	32936734	32936734	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579758