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.5174-2A>C	POLE	Likely pathogenic	12	133218439	133218439	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.5867A>T (p.Glu1956Val)	POLE	Likely pathogenic	12	133210909	133210909	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.3459+1G>A	POLE	Likely pathogenic	12	133233934	133233934	C	T	criteria provided, single submitter	ClinGen:CA387388924
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
Deletion	NM_006231.4(POLE):c.2706+1_2706+5del	POLE	Likely pathogenic	12	133240585	133240589	ACTCAC	A	criteria provided, single submitter	ClinGen:CA6893476
single nucleotide variant	NM_006231.4(POLE):c.1686+1G>C	POLE	Likely pathogenic	12	133249212	133249212	C	G	criteria provided, single submitter	ClinGen:CA387356438
single nucleotide variant	NM_006231.4(POLE):c.2706+2T>C	POLE	Likely pathogenic	12	133240588	133240588	A	G	criteria provided, single submitter	ClinGen:CA387394843
single nucleotide variant	NM_006231.4(POLE):c.4150-1G>C	POLE	Likely pathogenic	12	133220564	133220564	C	G	criteria provided, single submitter	ClinGen:CA387382572
single nucleotide variant	NM_006231.4(POLE):c.1089C>G (p.Asn363Lys)	POLE	Likely pathogenic	12	133252338	133252338	G	C	criteria provided, single submitter	ClinGen:CA16619477
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