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.1686+32C>G	POLE	Pathogenic/Likely pathogenic	12	133249181	133249181	G	C	criteria provided, multiple submitters, no conflicts	OMIM:174762.0003
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
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
Deletion	NC_000012.12:g.(?_132660959)_(132661174_?)del	POLE	Pathogenic	12	133237545	133237760	na	na	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_132672205)_(132681289_?)del	POLE	Pathogenic	12	133248791	133257875	na	na	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_132632305)_(132632805_?)del	POLE	Pathogenic	12	133208891	133209391	na	na	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.1351C>T (p.Gln451Ter)	POLE	Pathogenic	12	133250169	133250169	G	A	criteria provided, single submitter	-
Deletion	NM_006231.4(POLE):c.1623_1633del (p.His543fs)	POLE	Pathogenic	12	133249266	133249276	TCCACGTGGCCC	T	criteria provided, single submitter	-