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.631+2T>A	BRCA2	Pathogenic/Likely pathogenic	13	32900752	32900752	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602524
Deletion	NM_000059.4(BRCA2):c.632-2del	BRCA2	Pathogenic	13	32903578	32903578	CA	C	criteria provided, single submitter	ClinGen:CA10602525
single nucleotide variant	NM_000059.4(BRCA2):c.682-2A>C	BRCA2	Pathogenic/Likely pathogenic	13	32905054	32905054	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602526
single nucleotide variant	NM_000059.4(BRCA2):c.793+2T>G	BRCA2	Pathogenic	13	32905169	32905169	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602527
Indel	NM_000059.3(BRCA2):c.891_898delAACAGTTGins10 (p.?)	BRCA2	Pathogenic	13	32906506	32906513	na	na	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.2402_2420del (p.Asn801fs)	BRCA2	Pathogenic	13	32910894	32910912	AACAATTATGAATCTGATGT	A	reviewed by expert panel	ClinGen:CA10602528
Indel	NM_000059.3(BRCA2):c.2778_2782delCATGGins12 (p.?)	BRCA2	Pathogenic	13	32911270	32911274	na	na	criteria provided, single submitter	-
Insertion	NM_000059.3:c.4539_4540ins4	BRCA2	Pathogenic	13	32913031	32913032	na	na	criteria provided, single submitter	-
Indel	NM_000059.3:c.5161_5169delins5	BRCA2	Pathogenic	13	32913653	32913661	na	na	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.5616del (p.Lys1872_Val1873insTer)	BRCA2	Pathogenic	13	32914106	32914106	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602529