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
Duplication	NM_006231.4(POLE):c.4689dup (p.Ile1564fs)	POLE	Pathogenic	12	133219444	133219445	T	TG	criteria provided, single submitter	-
Deletion	NM_006231.4(POLE):c.5103_5173+29del	POLE	Likely pathogenic	12	133218734	133218833	CTCATGGGCCTCGTCCTCCCGCCCACTTACCTGTGGAGTAACAGCCTGAACTGTTGATCTCAACAGTGGCTTGGTCATCGAACTCCATGACAAGACAGTTG	C	criteria provided, single submitter	-
Deletion	NM_006231.4(POLE):c.5423del (p.Gln1808fs)	POLE	Pathogenic	12	133215840	133215840	CT	C	criteria provided, single submitter	-
Indel	NM_006231.4(POLE):c.6651_6657+6delinsTGC	POLE	Likely pathogenic	12	133202225	133202237	ACTCACCAGGTCC	GCA	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	-
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.2561+1G>A	POLE	Likely pathogenic	12	133240955	133240955	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.119G>A (p.Trp40Ter)	POLE	Pathogenic	12	133257809	133257809	C	T	criteria provided, single submitter	-