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.6330+1G>A	POLE	Likely pathogenic	12	133208900	133208900	C	T	criteria provided, single submitter	-
Deletion	NM_006231.4(POLE):c.6434_6438del (p.Arg2145fs)	POLE	Pathogenic	12	133202796	133202800	GGTCTC	G	criteria provided, single submitter	ClinGen:CA658798011
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_002691.4(POLD1):c.1433G>A (p.Ser478Asn)	POLD1	Pathogenic/Likely pathogenic	19	50909713	50909713	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA130715,UniProtKB:P28340#VAR_069335,OMIM:174761.0001
single nucleotide variant	NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro)	POLD1	Pathogenic/Likely pathogenic	19	50909701	50909701	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA170564,UniProtKB:P28340#VAR_071966,OMIM:174761.0004