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
Deletion	NM_006231.4(POLE):c.5783_5784del (p.Lys1928fs)	POLE	Pathogenic	12	133212505	133212506	CTT	C	criteria provided, single submitter	-
Deletion	NM_006231.4(POLE):c.6023del (p.Tyr2008fs)	POLE	Pathogenic	12	133209363	133209363	GT	G	criteria provided, single submitter	-
Deletion	NM_006231.4(POLE):c.6273_6280del (p.Gly2092fs)	POLE	Pathogenic	12	133208951	133208958	TGGGAACCG	T	criteria provided, single submitter	-
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_006231.4(POLE):c.62+1G>C	POLE	Likely pathogenic	12	133263839	133263839	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.331-2A>G	POLE	Likely pathogenic	12	133256634	133256634	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.578+1G>A	POLE	Likely pathogenic	12	133256082	133256082	C	T	criteria provided, single submitter	-
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.1350_1360del (p.Glu450fs)	POLE	Pathogenic	12	133250161	133250171	CCTGGGGCTGCT	C	criteria provided, single submitter	-
Duplication	NM_006231.4(POLE):c.1625dup (p.His543fs)	POLE	Pathogenic	12	133249273	133249274	G	GC	criteria provided, single submitter	-