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_002878.4(RAD51D):c.210_229dup (p.Thr77delinsIleSerThrArgAsnTer)	RAD51D	Pathogenic	17	33445553	33445554	G	GTCTTCAGTTCCTCGTAGAGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656592
single nucleotide variant	NM_002878.4(RAD51D):c.178C>T (p.Gln60Ter)	RAD51D	Pathogenic	17	33445605	33445605	G	A	criteria provided, single submitter	ClinGen:CA399091493
Deletion	NM_007294.4(BRCA1):c.5250del (p.Lys1750fs)	BRCA1	Pathogenic	17	41209096	41209096	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656659
single nucleotide variant	NM_007294.4(BRCA1):c.5215G>C (p.Asp1739His)	BRCA1	Likely pathogenic	17	41209131	41209131	C	G	criteria provided, single submitter	ClinGen:CA10591110
single nucleotide variant	NM_007294.4(BRCA1):c.4987-1G>C	BRCA1	Pathogenic/Likely pathogenic	17	41219713	41219713	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10591546
Deletion	NM_007294.4(BRCA1):c.4505del (p.Pro1502fs)	BRCA1	Pathogenic	17	41226518	41226518	TG	T	criteria provided, single submitter	ClinGen:CA658656637
Deletion	NM_007294.4(BRCA1):c.4282del (p.Ser1428fs)	BRCA1	Pathogenic	17	41234496	41234496	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656655
single nucleotide variant	NM_007294.4(BRCA1):c.5156T>G (p.Val1719Gly)	BRCA1	Likely pathogenic	17	41215387	41215387	A	C	criteria provided, single submitter	ClinGen:CA10591229
Deletion	NM_007294.4(BRCA1):c.5080del (p.Glu1694fs)	BRCA1	Pathogenic	17	41215963	41215963	TC	T	criteria provided, single submitter	ClinGen:CA658656679
Deletion	NM_007294.4(BRCA1):c.4862_4871del (p.Asp1621fs)	BRCA1	Pathogenic/Likely pathogenic	17	41223060	41223069	CCCAGCAGTAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656618