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
Indel	NM_000059.4(BRCA2):c.6987_6989delinsTGTG (p.Ile2330fs)	BRCA2	Pathogenic	13	32921013	32921015	GAT	TGTG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798101
single nucleotide variant	NM_000059.4(BRCA2):c.8332-2A>C	BRCA2	Likely pathogenic	13	32944537	32944537	A	C	criteria provided, single submitter	ClinGen:CA387752308
Deletion	NM_000059.4(BRCA2):c.8663del (p.Arg2888fs)	BRCA2	Pathogenic	13	32950837	32950837	CG	C	criteria provided, single submitter	ClinGen:CA658798063
Duplication	NM_000059.4(BRCA2):c.161dup (p.Asn54fs)	BRCA2	Pathogenic	13	32893302	32893303	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798083
single nucleotide variant	NM_000059.4(BRCA2):c.8954-1G>A	BRCA2	Likely pathogenic	13	32953886	32953886	G	A	criteria provided, single submitter	ClinGen:CA387757355
Deletion	NM_000059.4(BRCA2):c.9887del (p.Lys3296fs)	BRCA2	Pathogenic	13	32972536	32972536	GA	G	criteria provided, single submitter	ClinGen:CA658798107
Duplication	NM_000059.4(BRCA2):c.3174dup (p.Leu1059fs)	BRCA2	Pathogenic/Likely pathogenic	13	32911663	32911664	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798119
single nucleotide variant	NM_000059.4(BRCA2):c.3779T>G (p.Leu1260Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32912271	32912271	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387778317
Deletion	NM_000059.4(BRCA2):c.3933_3943del (p.Asn1312fs)	BRCA2	Pathogenic	13	32912423	32912433	TGAAAATTACAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798134
single nucleotide variant	NM_000059.4(BRCA2):c.4154C>G (p.Ser1385Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32912646	32912646	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387780011