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.720+1G>A	POLE	Likely pathogenic	12	133254163	133254163	C	T	criteria provided, single submitter	ClinGen:CA16614044
single nucleotide variant	NM_006231.4(POLE):c.729G>A (p.Trp243Ter)	POLE	Pathogenic	12	133254021	133254021	C	T	criteria provided, single submitter	-
Deletion	NM_006231.4(POLE):c.905del (p.Gly302fs)	POLE	Pathogenic	12	133253136	133253136	GC	G	criteria provided, single submitter	-
Indel	NM_006231.4(POLE):c.929_932delinsCCAACT (p.Arg310fs)	POLE	Pathogenic	12	133252768	133252771	TCCC	AGTTGG	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.1021-1G>C	POLE	Likely pathogenic	12	133252407	133252407	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.1089C>G (p.Asn363Lys)	POLE	Likely pathogenic	12	133252338	133252338	G	C	criteria provided, single submitter	ClinGen:CA16619477
single nucleotide variant	NM_006231.4(POLE):c.1106+2T>G	POLE	Likely pathogenic	12	133252319	133252319	A	C	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	-
Deletion	NM_006231.4(POLE):c.1226+2_1226+5del	POLE	Likely pathogenic	12	133251979	133251982	CCCTA	C	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.1270C>G (p.Leu424Val)	POLE	Pathogenic	12	133250250	133250250	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA130722,UniProtKB:Q07864#VAR_069344,OMIM:174762.0001