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.2026+1G>C	POLE	Likely pathogenic	12	133245220	133245220	C	G	criteria provided, single submitter	-
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.331-2A>G	POLE	Likely pathogenic	12	133256634	133256634	T	C	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	-
Deletion	NM_006231.4(POLE):c.5103_5173+29del	POLE	Likely pathogenic	12	133218734	133218833	CTCATGGGCCTCGTCCTCCCGCCCACTTACCTGTGGAGTAACAGCCTGAACTGTTGATCTCAACAGTGGCTTGGTCATCGAACTCCATGACAAGACAGTTG	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.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.1107-2A>G	POLE	Likely pathogenic	12	133252105	133252105	T	C	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	-