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.1091del (p.Pro364fs)	BRCA1	Pathogenic	17	41246457	41246457	AG	A	reviewed by expert panel	ClinGen:CA000731
Duplication	NM_007294.4(BRCA1):c.1099dup (p.Thr367fs)	BRCA1	Pathogenic	17	41246448	41246449	G	GT	reviewed by expert panel	ClinGen:CA327717
Duplication	NM_007294.4(BRCA1):c.1100dup (p.Thr367_Glu368insTer)	BRCA1	Pathogenic	17	41246447	41246448	A	AG	reviewed by expert panel	ClinGen:CA327718
single nucleotide variant	NM_007294.4(BRCA1):c.1102G>T (p.Glu368Ter)	BRCA1	Pathogenic	17	41246446	41246446	C	A	reviewed by expert panel	ClinGen:CA000736
single nucleotide variant	NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys)	BRCA1	Pathogenic	17	41267767	41267767	G	T	reviewed by expert panel	BRCA1-HCI:BRCA1_00112,ClinGen:CA000742
single nucleotide variant	NM_007294.4(BRCA1):c.110C>G (p.Thr37Arg)	BRCA1	Pathogenic/Likely pathogenic	17	41267767	41267767	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA000743
Deletion	NM_007294.4(BRCA1):c.1112del (p.Pro371fs)	BRCA1	Pathogenic	17	41246436	41246436	AG	A	reviewed by expert panel	ClinGen:CA000744
single nucleotide variant	NM_007294.4(BRCA1):c.1115G>A (p.Trp372Ter)	BRCA1	Pathogenic	17	41246433	41246433	C	T	reviewed by expert panel	ClinGen:CA000745,OMIM:113705.0043
single nucleotide variant	NM_007294.4(BRCA1):c.1116G>A (p.Trp372Ter)	BRCA1	Pathogenic	17	41246432	41246432	C	T	reviewed by expert panel	ClinGen:CA000746
Indel	NM_007294.4(BRCA1):c.1121_1123delinsT (p.Thr374fs)	BRCA1	Pathogenic	17	41246425	41246427	GTG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1240&base_change=del CAC ins T,ClinGen:CA000748