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.4964C>T (p.Ser1655Phe)	BRCA1	Pathogenic/Likely pathogenic	17	41222967	41222967	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003111,UniProtKB:P38398#VAR_070496
Deletion	NM_007294.4(BRCA1):c.4964_4979del (p.Val1654_Ser1655insTer)	BRCA1	Pathogenic	17	41222952	41222967	TTCTGGGGTCAGGCCAG	T	reviewed by expert panel	ClinGen:CA003106
single nucleotide variant	NM_007294.4(BRCA1):c.4981G>T (p.Glu1661Ter)	BRCA1	Pathogenic	17	41222950	41222950	C	A	reviewed by expert panel	ClinGen:CA003116
single nucleotide variant	NM_007294.4(BRCA1):c.4986+2T>C	BRCA1	Pathogenic	17	41222943	41222943	A	G	criteria provided, single submitter	ClinGen:CA003120
single nucleotide variant	NM_007294.4(BRCA1):c.4986+3G>C	BRCA1	Pathogenic/Likely pathogenic	17	41222942	41222942	C	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5105+3&base_change=G to C,ClinGen:CA003121
single nucleotide variant	NM_007294.4(BRCA1):c.4986+4A>T	BRCA1	Pathogenic/Likely pathogenic	17	41222941	41222941	T	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5105+4&base_change=A to T,ClinGen:CA003123
single nucleotide variant	NM_007294.4(BRCA1):c.4986+6T>G	BRCA1	Pathogenic	17	41222939	41222939	A	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5105+6&base_change=T to G,ClinGen:CA003128
single nucleotide variant	NM_007294.4(BRCA1):c.4987-2A>G	BRCA1	Pathogenic	17	41219714	41219714	T	C	reviewed by expert panel	ClinGen:CA003132
single nucleotide variant	NM_007294.4(BRCA1):c.4987-3C>G	BRCA1	Pathogenic/Likely pathogenic	17	41219715	41219715	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003133
single nucleotide variant	NM_007294.4(BRCA1):c.4987-5T>A	BRCA1	Pathogenic/Likely pathogenic	17	41219717	41219717	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA003135