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	NC_000017.10:g.(41258551_41267742)_(41276114_?)del	BRCA1	Pathogenic	17	41258551	41276114	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.1381G>T (p.Glu461Ter)	BRCA2	Pathogenic	13	32906996	32906996	G	T	reviewed by expert panel	ClinGen:CA387762984
Deletion	NM_000059.4(BRCA2):c.4103del (p.Leu1368fs)	BRCA2	Pathogenic	13	32912594	32912594	AT	A	reviewed by expert panel	ClinGen:CA645509345
Deletion	NM_007294.4(BRCA1):c.2090del (p.Phe697fs)	BRCA1	Pathogenic	17	41245458	41245458	GA	G	reviewed by expert panel	ClinGen:CA645509515
Duplication	NM_000059.4(BRCA2):c.342dup (p.Lys115Ter)	BRCA2	Pathogenic	13	32899237	32899238	A	AT	reviewed by expert panel	ClinGen:CA658653661
single nucleotide variant	NM_000059.4(BRCA2):c.516G>T (p.Lys172Asn)	BRCA2	Likely pathogenic	13	32900419	32900419	G	T	criteria provided, single submitter	ClinGen:CA387757750
Deletion	NM_000059.4(BRCA2):c.774_777del (p.Arg259fs)	BRCA2	Pathogenic	13	32905147	32905150	CAAAG	C	reviewed by expert panel	ClinGen:CA658653665
Deletion	NM_000059.4(BRCA2):c.813del (p.Asn272fs)	BRCA2	Pathogenic	13	32906426	32906426	AG	A	reviewed by expert panel	ClinGen:CA658653668
Deletion	NM_000059.4(BRCA2):c.917_920del (p.Asp306fs)	BRCA2	Pathogenic	13	32906530	32906533	AAGAT	A	reviewed by expert panel	ClinGen:CA658653671
Duplication	NM_000059.4(BRCA2):c.926dup (p.Leu310fs)	BRCA2	Pathogenic	13	32906540	32906541	T	TC	reviewed by expert panel	ClinGen:CA658653672