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.5078_5080del (p.Ala1693del)	BRCA1	Pathogenic/Likely pathogenic	17	41215963	41215965	TCAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA003219
single nucleotide variant	NM_007294.4(BRCA1):c.5080G>T (p.Glu1694Ter)	BRCA1	Pathogenic	17	41215963	41215963	C	A	reviewed by expert panel	ClinGen:CA003221
Deletion	NM_007294.4(BRCA1):c.5084_5085del (p.Phe1695fs)	BRCA1	Pathogenic	17	41215958	41215959	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5203&base_change=del TT,ClinGen:CA003222
single nucleotide variant	NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg)	BRCA1	Pathogenic	17	41215954	41215954	A	G	reviewed by expert panel	ClinGen:CA003228,UniProtKB:P38398#VAR_020702
single nucleotide variant	NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)	BRCA1	Pathogenic	17	41215948	41215948	G	A	reviewed by expert panel	BRCA1-HCI:BRCA1_00046,ClinGen:CA003234,UniProtKB:P38398#VAR_075666,OMIM:113705.0040
single nucleotide variant	NM_007294.4(BRCA1):c.5096G>T (p.Arg1699Leu)	BRCA1	Likely pathogenic	17	41215947	41215947	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003237
Deletion	NM_007294.4(BRCA1):c.5102_5103del (p.Leu1701fs)	BRCA1	Pathogenic	17	41215940	41215941	TCA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5221&base_change=del TG,ClinGen:CA003242
Deletion	NM_007294.4(BRCA1):c.5106del (p.Lys1702fs)	BRCA1	Pathogenic	17	41215937	41215937	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5225&base_change=del A,ClinGen:CA003243
single nucleotide variant	NM_007294.4(BRCA1):c.5109T>G (p.Tyr1703Ter)	BRCA1	Pathogenic	17	41215934	41215934	A	C	reviewed by expert panel	ClinGen:CA003244
Deletion	NM_007294.4(BRCA1):c.5112del (p.Phe1704_Leu1705insTer)	BRCA1	Pathogenic	17	41215931	41215931	GA	G	reviewed by expert panel	ClinGen:CA003245