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_000059.4(BRCA2):c.738del (p.Phe246fs)	BRCA2	Pathogenic/Likely pathogenic	13	32905110	32905110	AT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002878.4(RAD51D):c.141C>A (p.Tyr47Ter)	RAD51D	Pathogenic/Likely pathogenic	17	33446133	33446133	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007294.4(BRCA1):c.121C>T (p.His41Tyr)	BRCA1	Pathogenic/Likely pathogenic	17	41267756	41267756	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.6155dup (p.Ser2053fs)	BRCA2	Pathogenic/Likely pathogenic	13	32914646	32914647	T	TC	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000059.3(BRCA2):c.5362_5363delinsA (p.Ser1788fs)	BRCA2	Pathogenic/Likely pathogenic	13	32913854	32913855	TC	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.1774del (p.Tyr592fs)	BRCA2	Pathogenic/Likely pathogenic	13	32907387	32907387	AT	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.610dup (p.Leu204fs)	BRCA2	Pathogenic/Likely pathogenic	13	32900726	32900727	A	AC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.8954-2_8959del	BRCA2	Pathogenic/Likely pathogenic	13	32953883	32953890	AACAGTTAT	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.7958_7959dup (p.Leu2654fs)	BRCA2	Pathogenic/Likely pathogenic	13	32936811	32936812	C	CTT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.6859A>T (p.Arg2287Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32918712	32918712	A	T	criteria provided, multiple submitters, no conflicts	-