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.1127del (p.Asn376fs)	BRCA1	Pathogenic	17	41246421	41246421	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1246&base_change=del A,ClinGen:CA000754
Deletion	NM_007294.4(BRCA1):c.112_113del (p.Lys38fs)	BRCA1	Pathogenic	17	41267764	41267765	CTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):231&base_change=del AA,ClinGen:CA000749
single nucleotide variant	NM_007294.4(BRCA1):c.1138C>T (p.Gln380Ter)	BRCA1	Pathogenic	17	41246410	41246410	G	A	reviewed by expert panel	ClinGen:CA000759
single nucleotide variant	NM_007294.4(BRCA1):c.1141A>T (p.Lys381Ter)	BRCA1	Pathogenic	17	41246407	41246407	T	A	reviewed by expert panel	ClinGen:CA000760
Duplication	NM_007294.4(BRCA1):c.1152dup (p.Trp385fs)	BRCA1	Pathogenic	17	41246395	41246396	A	AC	reviewed by expert panel	ClinGen:CA327721
Deletion	NM_007294.4(BRCA1):c.1158_1159del (p.Ser387fs)	BRCA1	Pathogenic	17	41246389	41246390	GAA	G	reviewed by expert panel	ClinGen:CA000764
Duplication	NM_007294.4(BRCA1):c.1159dup (p.Ser387fs)	BRCA1	Pathogenic	17	41246388	41246389	G	GA	reviewed by expert panel	ClinGen:CA327722
single nucleotide variant	NM_007294.4(BRCA1):c.115T>A (p.Cys39Ser)	BRCA1	Pathogenic/Likely pathogenic	17	41267762	41267762	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000765
single nucleotide variant	NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg)	BRCA1	Pathogenic	17	41267762	41267762	A	G	reviewed by expert panel	BRCA1-HCI:BRCA1_00113,ClinGen:CA000766
single nucleotide variant	NM_007294.4(BRCA1):c.115T>G (p.Cys39Gly)	BRCA1	Pathogenic/Likely pathogenic	17	41267762	41267762	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA000767