ポリメラーゼ校正関連ポリポーシス

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_006231.4(POLE):c.62+1G>C	POLE	Likely pathogenic	12	133263839	133263839	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.119G>A (p.Trp40Ter)	POLE	Pathogenic	12	133257809	133257809	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.185G>A (p.Trp62Ter)	POLE	Pathogenic	12	133257743	133257743	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.331-2A>G	POLE	Likely pathogenic	12	133256634	133256634	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.331-1G>A	POLE	Likely pathogenic	12	133256633	133256633	C	T	criteria provided, single submitter	ClinGen:CA387368431
single nucleotide variant	NM_006231.4(POLE):c.340C>T (p.Arg114Ter)	POLE	Pathogenic	12	133256623	133256623	G	A	criteria provided, single submitter	ClinGen:CA387368351
single nucleotide variant	NM_006231.4(POLE):c.538C>T (p.Gln180Ter)	POLE	Pathogenic	12	133256123	133256123	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.578+1G>A	POLE	Likely pathogenic	12	133256082	133256082	C	T	criteria provided, single submitter	-
Duplication	NM_006231.4(POLE):c.663dup (p.Arg222fs)	POLE	Pathogenic	12	133254220	133254221	G	GC	criteria provided, single submitter	ClinGen:CA16614045
single nucleotide variant	NM_006231.4(POLE):c.720+1G>A	POLE	Likely pathogenic	12	133254163	133254163	C	T	criteria provided, single submitter	ClinGen:CA16614044