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.6002C>G (p.Ser2001Ter)	POLE	Pathogenic	12	133210774	133210774	G	C	criteria provided, single submitter	-
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.2158A>T (p.Lys720Ter)	POLE	Pathogenic	12	133244957	133244957	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.538C>T (p.Gln180Ter)	POLE	Pathogenic	12	133256123	133256123	G	A	criteria provided, single submitter	-
Deletion	NM_006231.4(POLE):c.6026del (p.His2009fs)	POLE	Pathogenic	12	133209360	133209360	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.1474-1G>C	POLE	Likely pathogenic	12	133249426	133249426	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.1107-2A>G	POLE	Likely pathogenic	12	133252105	133252105	T	C	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.6330+1G>A	POLE	Likely pathogenic	12	133208900	133208900	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.2561+1G>A	POLE	Likely pathogenic	12	133240955	133240955	C	T	criteria provided, single submitter	-