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	Single allele	BRCA1	Pathogenic	17	41276034	41276113	na	na	criteria provided, single submitter	-
Deletion	Single allele	BRCA1	Pathogenic	17	41197694	41197818	na	na	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.8533dup (p.Arg2845fs)	BRCA2	Pathogenic	13	32945135	32945136	G	GA	reviewed by expert panel	ClinGen:CA645509336
single nucleotide variant	NM_000059.4(BRCA2):c.-39-2A>G	BRCA2	Pathogenic/Likely pathogenic	13	32890557	32890557	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509354
Deletion	NM_000059.4(BRCA2):c.1887_1893del (p.Thr630fs)	BRCA2	Pathogenic	13	32907501	32907507	CTTACATT	C	reviewed by expert panel	ClinGen:CA609453771
single nucleotide variant	NM_000059.4(BRCA2):c.2860G>T (p.Glu954Ter)	BRCA2	Pathogenic	13	32911352	32911352	G	T	reviewed by expert panel	ClinGen:CA387773975
single nucleotide variant	NM_000059.4(BRCA2):c.3376G>T (p.Glu1126Ter)	BRCA2	Pathogenic	13	32911868	32911868	G	T	reviewed by expert panel	ClinGen:CA387776416
Deletion	NM_000059.4(BRCA2):c.4037del (p.Thr1346fs)	BRCA2	Pathogenic	13	32912529	32912529	AC	A	reviewed by expert panel	ClinGen:CA609453793
Deletion	NM_000059.4(BRCA2):c.4346_4350del (p.Asn1448_Phe1449insTer)	BRCA2	Pathogenic	13	32912836	32912840	ATTTCT	A	reviewed by expert panel	ClinGen:CA645509346
Deletion	NM_000059.4(BRCA2):c.4376del (p.Asn1459fs)	BRCA2	Pathogenic	13	32912867	32912867	TA	T	reviewed by expert panel	ClinGen:CA645509347