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.2125G>T (p.Glu709Ter)	POLE	Pathogenic	12	133244990	133244990	C	A	criteria provided, single submitter	-
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.2811C>A (p.Tyr937Ter)	POLE	Pathogenic	12	133238166	133238166	G	T	criteria provided, single submitter	-
Deletion	NM_006231.4(POLE):c.2956del (p.Gln986fs)	POLE	Pathogenic	12	133237659	133237659	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.3039G>A (p.Trp1013Ter)	POLE	Pathogenic	12	133237576	133237576	C	T	criteria provided, single submitter	-
Deletion	NM_006231.4(POLE):c.3071del (p.Met1024fs)	POLE	Pathogenic	12	133236085	133236085	CA	C	criteria provided, single submitter	-
Deletion	NM_006231.4(POLE):c.4231_4232del (p.Ile1411fs)	POLE	Pathogenic	12	133220481	133220482	GAT	G	criteria provided, single submitter	-
Duplication	NM_006231.4(POLE):c.4552-1dup	POLE	Pathogenic	12	133219581	133219582	A	AC	criteria provided, single submitter	-
Deletion	NM_006231.4(POLE):c.4593_4611del (p.Ala1532fs)	POLE	Pathogenic	12	133219523	133219541	GGAGGAGGCCGTGCTCTGCT	G	criteria provided, single submitter	-