家族性膵がん - MGenReviews

家族性膵がん

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	NM_007294.4(BRCA1):c.5270_5276del (p.Asp1757fs)	BRCA1	Pathogenic	17	41209070	41209076	CTTTCTGT	C	reviewed by expert panel	ClinGen:CA003413
single nucleotide variant	NM_007294.4(BRCA1):c.5278-1G>A	BRCA1	Pathogenic	17	41203135	41203135	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5397-1&base_change=G to A,ClinGen:CA003432
single nucleotide variant	NM_007294.4(BRCA1):c.5278-1G>C	BRCA1	Pathogenic	17	41203135	41203135	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA003434
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