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
Deletion	NM_000059.4(BRCA2):c.274del (p.Gln92fs)	BRCA2	Pathogenic	13	32893419	32893419	AC	A	criteria provided, single submitter	ClinGen:CA658798086
single nucleotide variant	NM_000059.4(BRCA2):c.516+2T>C	BRCA2	Pathogenic	13	32900421	32900421	T	C	criteria provided, single submitter	ClinGen:CA387757754
Deletion	NM_000059.4(BRCA2):c.918_919del (p.Asp306fs)	BRCA2	Pathogenic	13	32906532	32906533	GAT	G	criteria provided, single submitter	ClinGen:CA658798114
Deletion	NM_000059.4(BRCA2):c.1342del (p.Arg448fs)	BRCA2	Pathogenic	13	32906957	32906957	AC	A	criteria provided, single submitter	ClinGen:CA658798123
single nucleotide variant	NM_000059.4(BRCA2):c.1490C>G (p.Ser497Ter)	BRCA2	Pathogenic	13	32907105	32907105	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387764450
single nucleotide variant	NM_000059.4(BRCA2):c.3002C>G (p.Ser1001Ter)	BRCA2	Pathogenic	13	32911494	32911494	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387774682
Deletion	NM_000059.4(BRCA2):c.3861_3865del (p.Asn1287fs)	BRCA2	Pathogenic	13	32912352	32912356	AATAAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798131
Deletion	NM_000059.4(BRCA2):c.3906del (p.Gly1303fs)	BRCA2	Pathogenic	13	32912398	32912398	CT	C	criteria provided, single submitter	ClinGen:CA658798133
Deletion	NC_000013.11:g.(?_32326095)_(32363539_?)del	BRCA2	Pathogenic	13	32900232	32937676	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.6415G>T (p.Glu2139Ter)	BRCA2	Pathogenic	13	32914907	32914907	G	T	criteria provided, single submitter	ClinGen:CA387789266