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.505C>T (p.Gln169Ter)	BRCA1	Pathogenic	17	41251834	41251834	G	A	reviewed by expert panel	ClinGen:CA003179
Duplication	NM_007294.4(BRCA1):c.5071dup (p.Thr1691fs)	BRCA1	Pathogenic	17	41219627	41219628	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5190&base_change=ins A,ClinGen:CA003186
single nucleotide variant	NM_007294.4(BRCA1):c.5072C>G (p.Thr1691Arg)	BRCA1	Likely pathogenic	17	41219627	41219627	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003189
single nucleotide variant	NM_007294.4(BRCA1):c.5074+3A>G	BRCA1	Pathogenic/Likely pathogenic	17	41219622	41219622	T	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5193+3&base_change=A to G,ClinGen:CA003197
single nucleotide variant	NM_007294.4(BRCA1):c.5074G>T (p.Asp1692Tyr)	BRCA1	Pathogenic	17	41219625	41219625	C	A	criteria provided, single submitter	ClinGen:CA003203
single nucleotide variant	NM_007294.4(BRCA1):c.5075-1G>A	BRCA1	Pathogenic/Likely pathogenic	17	41215969	41215969	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5194-1&base_change=G to A,ClinGen:CA003204
single nucleotide variant	NM_007294.4(BRCA1):c.5075-1G>T	BRCA1	Pathogenic/Likely pathogenic	17	41215969	41215969	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003206
single nucleotide variant	NM_007294.4(BRCA1):c.5075-2A>C	BRCA1	Pathogenic	17	41215970	41215970	T	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5194-2&base_change=A to C,ClinGen:CA003207
single nucleotide variant	NM_007294.4(BRCA1):c.5075-8T>G	BRCA1	Pathogenic/Likely pathogenic	17	41215976	41215976	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003214
Deletion	NM_007294.4(BRCA1):c.5075_5078del (p.Asp1692fs)	BRCA1	Pathogenic	17	41215965	41215968	AGCAT	A	reviewed by expert panel	ClinGen:CA003211