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_000059.4(BRCA2):c.1910-1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32910401	32910401	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007294.4(BRCA1):c.3337dup (p.Tyr1113fs)	BRCA1	Pathogenic/Likely pathogenic	17	41244210	41244211	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.3791del (p.Lys1264fs)	BRCA1	Pathogenic/Likely pathogenic	17	41243757	41243757	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.8562T>G (p.Tyr2854Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32945167	32945167	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.6884_6888del (p.Arg2295fs)	BRCA2	Pathogenic/Likely pathogenic	13	32918736	32918740	CAGGAT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.4333_4337del (p.Lys1445fs)	BRCA2	Pathogenic/Likely pathogenic	13	32912822	32912826	TAATAA	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.4356del (p.Ala1453fs)	BRCA1	Pathogenic/Likely pathogenic	17	41234422	41234422	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.5247T>G (p.Tyr1749Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32913739	32913739	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.8488-2A>C	BRCA2	Pathogenic/Likely pathogenic	13	32945091	32945091	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.1495C>T (p.Gln499Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32907110	32907110	C	T	criteria provided, multiple submitters, no conflicts	-