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.2659A>T (p.Lys887Ter)	POLE	Pathogenic	12	133240637	133240637	T	A	criteria provided, single submitter	ClinGen:CA16613907
single nucleotide variant	NM_006231.4(POLE):c.2706+2T>C	POLE	Likely pathogenic	12	133240588	133240588	A	G	criteria provided, single submitter	ClinGen:CA387394843
Deletion	NM_006231.4(POLE):c.2706+1_2706+5del	POLE	Likely pathogenic	12	133240585	133240589	ACTCAC	A	criteria provided, single submitter	ClinGen:CA6893476
single nucleotide variant	NM_006231.4(POLE):c.2707-2A>G	POLE	Likely pathogenic	12	133238272	133238272	T	C	criteria provided, single submitter	-
Deletion	NM_006231.4(POLE):c.2731del (p.Gln911fs)	POLE	Pathogenic	12	133238246	133238246	TG	T	criteria provided, single submitter	ClinGen:CA658797985
single nucleotide variant	NM_006231.4(POLE):c.2811C>A (p.Tyr937Ter)	POLE	Pathogenic	12	133238166	133238166	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.2865-2A>G	POLE	Likely pathogenic	12	133237752	133237752	T	C	criteria provided, single submitter	ClinGen:CA16613902
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	-
single nucleotide variant	NM_006231.4(POLE):c.3060+2T>G	POLE	Likely pathogenic	12	133237553	133237553	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA6893380