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.22_50del (p.Val8fs)	BRCA1	Pathogenic	17	41276064	41276092	AGCATTAATGACATTTTGTACTTCTTCAAC	A	reviewed by expert panel	ClinGen:CA10590045
Deletion	NM_007294.4(BRCA1):c.51del (p.Met18fs)	BRCA1	Pathogenic	17	41276063	41276063	TA	T	reviewed by expert panel	ClinGen:CA10586674
single nucleotide variant	NM_007294.4(BRCA1):c.53T>G (p.Met18Arg)	BRCA1	Likely pathogenic	17	41276061	41276061	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602052
single nucleotide variant	NM_007294.4(BRCA1):c.53T>A (p.Met18Lys)	BRCA1	Pathogenic/Likely pathogenic	17	41276061	41276061	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA003549
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.55C>T (p.Gln19Ter)	BRCA1	Pathogenic	17	41276059	41276059	G	A	reviewed by expert panel	ClinGen:CA003737
Deletion	NM_007294.4(BRCA1):c.61del (p.Ile21fs)	BRCA1	Pathogenic	17	41276053	41276053	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):180&base_change=del A,ClinGen:CA003765
Duplication	NM_007294.4(BRCA1):c.62dup (p.Glu23fs)	BRCA1	Pathogenic	17	41276051	41276052	G	GA	reviewed by expert panel	ClinGen:CA328036
Deletion	NM_007294.4(BRCA1):c.62_65del (p.Ile21fs)	BRCA1	Pathogenic	17	41276049	41276052	TAAGA	T	reviewed by expert panel	ClinGen:CA10590044
Deletion	NM_007294.4(BRCA1):c.65del (p.Ile21_Leu22insTer)	BRCA1	Pathogenic	17	41276049	41276049	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):183&base_change=del T,ClinGen:CA003774