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_007294.4(BRCA1):c.5289dup (p.Leu1764fs)	BRCA1	Pathogenic	17	41203122	41203123	G	GC	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5404&base_change=ins G,ClinGen:CA003446
single nucleotide variant	NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser)	BRCA1	Pathogenic	17	41203115	41203115	A	C	reviewed by expert panel	BRCA1-HCI:BRCA1_00044,ClinGen:CA003452,UniProtKB:P38398#VAR_063909
Deletion	NM_007294.4(BRCA1):c.5335del (p.Gln1779fs)	BRCA1	Pathogenic	17	41201209	41201209	TG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5454&base_change=del C,ClinGen:CA003507
single nucleotide variant	NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter)	BRCA1	Pathogenic	17	41201198	41201198	C	T	reviewed by expert panel	ClinGen:CA003514
single nucleotide variant	NM_007294.4(BRCA1):c.5363G>T (p.Gly1788Val)	BRCA1	Pathogenic	17	41201181	41201181	C	A	reviewed by expert panel	BRCA1-HCI:BRCA1_00047,ClinGen:CA003530,UniProtKB:P38398#VAR_063910
Deletion	NM_007294.4(BRCA1):c.5386del (p.Ser1796fs)	BRCA1	Pathogenic	17	41201158	41201158	GA	G	reviewed by expert panel	ClinGen:CA003545
single nucleotide variant	NM_007294.4(BRCA1):c.5387C>A (p.Ser1796Ter)	BRCA1	Pathogenic	17	41201157	41201157	G	T	reviewed by expert panel	ClinGen:CA003546
single nucleotide variant	NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)	BRCA1	Pathogenic	17	41276061	41276061	A	G	reviewed by expert panel	ClinGen:CA003550,UniProtKB:P38398#VAR_063899
single nucleotide variant	NM_007294.4(BRCA1):c.5406+1G>A	BRCA1	Pathogenic	17	41201137	41201137	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5525+1&base_change=G to A,ClinGen:CA003554
single nucleotide variant	NM_007294.4(BRCA1):c.5408G>C (p.Gly1803Ala)	BRCA1	Pathogenic/Likely pathogenic	17	41199719	41199719	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA003574