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.2164del (p.Arg722fs)	POLE	Pathogenic	12	133244951	133244951	CT	C	criteria provided, single submitter	ClinGen:CA658797990
Deletion	NM_006231.4(POLE):c.5932_5942del (p.Asn1978fs)	POLE	Pathogenic	12	133210834	133210844	GTTCCAGTTGTT	G	criteria provided, single submitter	ClinGen:CA658798015
single nucleotide variant	NM_006231.4(POLE):c.340C>T (p.Arg114Ter)	POLE	Pathogenic	12	133256623	133256623	G	A	criteria provided, single submitter	ClinGen:CA387368351
Duplication	NM_006231.4(POLE):c.1836dup (p.Val613fs)	POLE	Pathogenic	12	133245483	133245484	C	CG	criteria provided, single submitter	ClinGen:CA482849577
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.3534C>A (p.Tyr1178Ter)	POLE	Pathogenic	12	133233770	133233770	G	T	criteria provided, single submitter	ClinGen:CA387388492
Deletion	NM_006231.4(POLE):c.4193_4194del (p.Leu1397_Tyr1398insTer)	POLE	Pathogenic	12	133220519	133220520	CAT	C	criteria provided, single submitter	ClinGen:CA608514131
Deletion	NM_006231.4(POLE):c.4420del (p.Ala1474fs)	POLE	Pathogenic	12	133220017	133220017	GC	G	criteria provided, single submitter	ClinGen:CA658798028
Deletion	NM_006231.4(POLE):c.4689del (p.Ile1564fs)	POLE	Pathogenic	12	133219445	133219445	TG	T	criteria provided, single submitter	ClinGen:CA658798024
Duplication	NM_006231.4(POLE):c.4959dup (p.His1654fs)	POLE	Pathogenic	12	133218976	133218977	G	GA	criteria provided, single submitter	ClinGen:CA658798021