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.5074G>C (p.Asp1692His)	BRCA1	Pathogenic	17	41219625	41219625	C	G	reviewed by expert panel	ClinGen:CA003202
single nucleotide variant	NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr)	BRCA1	Likely pathogenic	17	41215953	41215953	C	T	reviewed by expert panel	ClinGen:CA003230
single nucleotide variant	NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)	BRCA1	Pathogenic	17	41215947	41215947	C	T	reviewed by expert panel	ClinGen:CA003235,UniProtKB:P38398#VAR_070501,OMIM:113705.0037
single nucleotide variant	NM_007294.4(BRCA1):c.5114T>C (p.Leu1705Pro)	BRCA1	Pathogenic/Likely pathogenic	17	41215929	41215929	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA003248
single nucleotide variant	NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu)	BRCA1	Pathogenic	17	41215926	41215926	C	T	reviewed by expert panel	BRCA1-HCI:BRCA1_00048,ClinGen:CA003249,UniProtKB:P38398#VAR_063905
single nucleotide variant	NM_007294.4(BRCA1):c.5152+1G>C	BRCA1	Pathogenic	17	41215890	41215890	C	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5271+1&base_change=G to C,ClinGen:CA003280
single nucleotide variant	NM_007294.4(BRCA1):c.5153-1G>C	BRCA1	Pathogenic	17	41215391	41215391	C	G	reviewed by expert panel	BRCA1-HCI:BRCA1_00144,ClinGen:CA003297,Breast Cancer Information Core (BIC) (BRCA1):5272-1&base_change=G to C
single nucleotide variant	NM_007294.4(BRCA1):c.5179A>T (p.Lys1727Ter)	BRCA1	Pathogenic	17	41215364	41215364	T	A	reviewed by expert panel	ClinGen:CA003327
single nucleotide variant	NM_007294.4(BRCA1):c.5191G>T (p.Glu1731Ter)	BRCA1	Pathogenic	17	41215352	41215352	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10591159
single nucleotide variant	NM_007294.4(BRCA1):c.5194-2A>G	BRCA1	Pathogenic/Likely pathogenic	17	41209154	41209154	T	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5313-2&base_change=A to G,ClinGen:CA003347