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
single nucleotide variant	NM_007294.4(BRCA1):c.5278-1G>T	BRCA1	Pathogenic	17	41203135	41203135	C	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5397-1&base_change=G to T,ClinGen:CA003436
single nucleotide variant	NM_007294.4(BRCA1):c.5278-2A>T	BRCA1	Likely pathogenic	17	41203136	41203136	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003437
Deletion	NM_007294.4(BRCA1):c.5284del (p.Arg1762fs)	BRCA1	Pathogenic	17	41203128	41203128	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5403&base_change=del A,ClinGen:CA003443
Deletion	NM_007294.4(BRCA1):c.5289del (p.Gly1763_Leu1764insTer)	BRCA1	Pathogenic	17	41203123	41203123	GC	G	reviewed by expert panel	ClinGen:CA003447
single nucleotide variant	NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro)	BRCA1	Pathogenic	17	41203121	41203121	A	G	reviewed by expert panel	BRCA1-HCI:BRCA1_00049,ClinGen:CA003449,UniProtKB:P38398#VAR_063908
single nucleotide variant	NM_007294.4(BRCA1):c.5293G>T (p.Glu1765Ter)	BRCA1	Pathogenic	17	41203119	41203119	C	A	reviewed by expert panel	ClinGen:CA003451
Deletion	NM_007294.4(BRCA1):c.529del (p.Ser177fs)	BRCA1	Pathogenic	17	41251810	41251810	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):648&base_change=del T,ClinGen:CA003453
single nucleotide variant	NM_007294.4(BRCA1):c.5307T>A (p.Tyr1769Ter)	BRCA1	Pathogenic	17	41203105	41203105	A	T	reviewed by expert panel	ClinGen:CA003459
Deletion	NM_007294.4(BRCA1):c.5310del (p.Phe1772fs)	BRCA1	Pathogenic	17	41203102	41203102	GC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5427&base_change=del G,ClinGen:CA003461
Duplication	NM_007294.4(BRCA1):c.5310dup (p.Pro1771fs)	BRCA1	Pathogenic	17	41203101	41203102	G	GC	reviewed by expert panel	ClinGen:CA327998