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_000059.4(BRCA2):c.1447dup (p.Ala483fs)	BRCA2	Pathogenic	13	32907061	32907062	T	TG	reviewed by expert panel	ClinGen:CA169014
single nucleotide variant	NM_000059.4(BRCA2):c.3412C>T (p.Gln1138Ter)	BRCA2	Pathogenic	13	32911904	32911904	C	T	reviewed by expert panel	ClinGen:CA017964
single nucleotide variant	NM_007294.4(BRCA1):c.2593A>T (p.Lys865Ter)	BRCA1	Pathogenic	17	41244955	41244955	T	A	reviewed by expert panel	ClinGen:CA001706
Deletion	NM_007294.4(BRCA1):c.335_338del (p.Asn112fs)	BRCA1	Pathogenic	17	41256242	41256245	GTTAT	G	reviewed by expert panel	ClinGen:CA002173
Deletion	NM_000059.4(BRCA2):c.6703_6704del (p.Met2235fs)	BRCA2	Pathogenic	13	32915194	32915195	TTA	T	reviewed by expert panel	ClinGen:CA024310
Deletion	NM_000059.4(BRCA2):c.3358del (p.Glu1120fs)	BRCA2	Pathogenic	13	32911850	32911850	AG	A	reviewed by expert panel	ClinGen:CA017851
single nucleotide variant	NM_002878.4(RAD51D):c.547C>T (p.Gln183Ter)	RAD51D	Pathogenic/Likely pathogenic	17	33433434	33433434	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA169325
Duplication	NM_058216.3(RAD51C):c.501_502dup (p.Arg168fs)	RAD51C	Pathogenic	17	56774148	56774149	G	GAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA169339
single nucleotide variant	NM_058216.3(RAD51C):c.904+5G>T	RAD51C	Pathogenic/Likely pathogenic	17	56798178	56798178	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA169350,OMIM:602774.0002
single nucleotide variant	NM_007294.4(BRCA1):c.2056G>T (p.Glu686Ter)	BRCA1	Pathogenic	17	41245492	41245492	C	A	reviewed by expert panel	ClinGen:CA001362