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.7436-1G>C	BRCA2	Pathogenic	13	32930564	32930564	G	C	criteria provided, single submitter	ClinGen:CA10602539
single nucleotide variant	NM_000059.4(BRCA2):c.7618-2A>G	BRCA2	Pathogenic	13	32931877	32931877	A	G	reviewed by expert panel	ClinGen:CA10602540
single nucleotide variant	NM_000059.4(BRCA2):c.7805+2T>G	BRCA2	Pathogenic	13	32932068	32932068	T	G	criteria provided, single submitter	ClinGen:CA10602541
single nucleotide variant	NM_000059.4(BRCA2):c.7806-2A>T	BRCA2	Pathogenic/Likely pathogenic	13	32936658	32936658	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602542
single nucleotide variant	NM_000059.4(BRCA2):c.7976+2C>A	BRCA2	Pathogenic	13	32936832	32936832	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602543
Indel	NM_000059.4(BRCA2):c.7977-3_7977-1delinsAA	BRCA2	Pathogenic/Likely pathogenic	13	32937313	32937315	TAG	AA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602544
single nucleotide variant	NM_000059.4(BRCA2):c.7977-1G>A	BRCA2	Pathogenic/Likely pathogenic	13	32937315	32937315	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602545
single nucleotide variant	NM_000059.4(BRCA2):c.8331+2T>C	BRCA2	Pathogenic/Likely pathogenic	13	32937672	32937672	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602546
single nucleotide variant	NM_000059.4(BRCA2):c.8332-1G>A	BRCA2	Pathogenic	13	32944538	32944538	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602547
single nucleotide variant	NM_000059.4(BRCA2):c.8487+2T>C	BRCA2	Pathogenic	13	32944696	32944696	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602548