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_058216.3(RAD51C):c.910del (p.Ser304fs)	RAD51C	Pathogenic/Likely pathogenic	17	56801404	56801404	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658629
Duplication	NC_000013.10:g.(?_32899736)_(32913272_?)dup	BRCA2	Pathogenic	13	32899736	32913272	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32339892)_(32342875_?)del	BRCA2	Pathogenic	13	32914029	32917012	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32379311)_(32380151_?)del	BRCA2	Pathogenic	13	32953448	32954288	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.1219C>T (p.Gln407Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32906834	32906834	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387762117
single nucleotide variant	NM_000059.4(BRCA2):c.2677C>T (p.Gln893Ter)	BRCA2	Pathogenic	13	32911169	32911169	C	T	criteria provided, single submitter	ClinGen:CA387773409
Insertion	NM_000059.4(BRCA2):c.3187_3188insG (p.Gln1063fs)	BRCA2	Pathogenic	13	32911679	32911680	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656405
Deletion	NM_000059.4(BRCA2):c.3462del (p.Thr1155fs)	BRCA2	Pathogenic	13	32911953	32911953	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656411
Deletion	NM_000059.4(BRCA2):c.5795_5799del (p.His1932fs)	BRCA2	Pathogenic	13	32914284	32914288	CAACAT	C	criteria provided, single submitter	ClinGen:CA658656402
Deletion	NC_000013.11:g.(?_32319286)_(32324350_?)del	BRCA2	Pathogenic	13	32893423	32898487	na	na	criteria provided, single submitter	-