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.2049C>G (p.Tyr683Ter)	POLE	Pathogenic	12	133245066	133245066	G	C	criteria provided, single submitter	OMIM:174762.0006
single nucleotide variant	NM_006231.4(POLE):c.2125G>T (p.Glu709Ter)	POLE	Pathogenic	12	133244990	133244990	C	A	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	-
Deletion	NM_006231.4(POLE):c.2164del (p.Arg722fs)	POLE	Pathogenic	12	133244951	133244951	CT	C	criteria provided, single submitter	ClinGen:CA658797990
Indel	NM_006231.3(POLE):c.2189_2199delinsT (p.Ala730fs)	POLE	Pathogenic	12	133244209	133244219	CTTCTTGTAGG	A	criteria provided, single submitter	ClinGen:CA16613870
Deletion	NM_006231.4(POLE):c.2245del (p.Arg749fs)	POLE	Pathogenic	12	133244163	133244163	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.2468+1G>A	POLE	Likely pathogenic	12	133241887	133241887	C	T	criteria provided, single submitter	ClinGen:CA16613609
Deletion	NM_006231.4(POLE):c.2473_2492del (p.Arg825fs)	POLE	Pathogenic	12	133241025	133241044	CATCTCCATGGAGTACCAGCG	C	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.2551G>T (p.Glu851Ter)	POLE	Pathogenic	12	133240966	133240966	C	A	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	-