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
single nucleotide variant	NM_007294.4(BRCA1):c.5559C>G (p.Tyr1853Ter)	BRCA1	Pathogenic	17	41197728	41197728	G	C	reviewed by expert panel	ClinGen:CA003716
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
Insertion	NM_007294.4(BRCA1):c.569_570insAACG (p.Val191fs)	BRCA1	Pathogenic	17	41249284	41249285	G	GCGTT	criteria provided, single submitter	ClinGen:CA003740
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.64_65del (p.Leu22fs)	BRCA1	Pathogenic	17	41276049	41276050	TAA	T	reviewed by expert panel	ClinGen:CA003771
single nucleotide variant	NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser)	BRCA1	Pathogenic	17	41276049	41276049	A	G	reviewed by expert panel	BRCA1-HCI:BRCA1_00111,ClinGen:CA003779,UniProtKB:P38398#VAR_007756
Deletion	NM_007294.4(BRCA1):c.667_668del (p.Lys223fs)	BRCA1	Pathogenic	17	41247865	41247866	CTT	C	criteria provided, single submitter	ClinGen:CA003786
single nucleotide variant	NM_007294.4(BRCA1):c.671-1G>A	BRCA1	Pathogenic	17	41246878	41246878	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA003803
single nucleotide variant	NM_007294.4(BRCA1):c.671-2A>C	BRCA1	Pathogenic/Likely pathogenic	17	41246879	41246879	T	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):790-2&base_change=A to C,ClinGen:CA003806