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_007294.4(BRCA1):c.411dup (p.Leu138fs)	BRCA1	Pathogenic	17	41256168	41256169	G	GA	reviewed by expert panel	ClinGen:CA658653689
single nucleotide variant	NM_000059.4(BRCA2):c.1440C>A (p.Cys480Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32907055	32907055	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA387764299
single nucleotide variant	NM_000059.4(BRCA2):c.2099T>A (p.Leu700Ter)	BRCA2	Pathogenic	13	32910591	32910591	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA387769896
single nucleotide variant	NM_000059.4(BRCA2):c.4397T>G (p.Leu1466Ter)	BRCA2	Pathogenic	13	32912889	32912889	T	G	criteria provided, single submitter	ClinGen:CA387781122
single nucleotide variant	NM_000059.4(BRCA2):c.6298C>T (p.Gln2100Ter)	BRCA2	Pathogenic	13	32914790	32914790	C	T	criteria provided, single submitter	ClinGen:CA387789022
single nucleotide variant	NM_002878.4(RAD51D):c.2T>A (p.Met1Lys)	RAD51D	Likely pathogenic	17	33446631	33446631	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399092629
single nucleotide variant	NM_007294.4(BRCA1):c.5333-2A>G	BRCA1	Pathogenic/Likely pathogenic	17	41201213	41201213	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10590803
Indel	NM_007294.4(BRCA1):c.5232_5238delinsGTCCAAAGCGAG (p.Asn1745fs)	BRCA1	Pathogenic/Likely pathogenic	17	41209108	41209114	GTGGTTT	CTCGCTTTGGAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656663
single nucleotide variant	NM_058216.3(RAD51C):c.146-1G>A	RAD51C	Likely pathogenic	17	56772291	56772291	G	A	criteria provided, single submitter	ClinGen:CA400339486
single nucleotide variant	NM_058216.3(RAD51C):c.706-1G>T	RAD51C	Likely pathogenic	17	56787219	56787219	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA400353039