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
Duplication	NM_006231.4(POLE):c.4959dup (p.His1654fs)	POLE	Pathogenic	12	133218976	133218977	G	GA	criteria provided, single submitter	ClinGen:CA658798021
Deletion	NM_006231.4(POLE):c.6072del (p.Pro2024_Val2025insTer)	POLE	Pathogenic	12	133209314	133209314	CG	C	criteria provided, single submitter	ClinGen:CA6892286
Deletion	NM_006231.4(POLE):c.6434_6438del (p.Arg2145fs)	POLE	Pathogenic	12	133202796	133202800	GGTCTC	G	criteria provided, single submitter	ClinGen:CA658798011
single nucleotide variant	NM_006231.4(POLE):c.1686+1G>C	POLE	Likely pathogenic	12	133249212	133249212	C	G	criteria provided, single submitter	ClinGen:CA387356438
single nucleotide variant	NM_006231.4(POLE):c.2706+2T>C	POLE	Likely pathogenic	12	133240588	133240588	A	G	criteria provided, single submitter	ClinGen:CA387394843
single nucleotide variant	NM_006231.4(POLE):c.4150-1G>C	POLE	Likely pathogenic	12	133220564	133220564	C	G	criteria provided, single submitter	ClinGen:CA387382572
Deletion	NM_006231.4(POLE):c.4900del (p.Arg1634fs)	POLE	Pathogenic	12	133219144	133219144	CG	C	criteria provided, single submitter	ClinGen:CA658658216
Indel	NM_006231.3(POLE):c.4249_4251delinsCT (p.Glu1417fs)	POLE	Pathogenic	12	133220462	133220464	CTC	AG	criteria provided, single submitter	ClinGen:CA658658180
Deletion	NM_006231.4(POLE):c.5265del (p.Ile1756fs)	POLE	Pathogenic	12	133218346	133218346	TC	T	criteria provided, single submitter	ClinGen:CA658658210,OMIM:174762.0004
Deletion	NM_006231.4(POLE):c.5484del (p.Ser1829fs)	POLE	Pathogenic	12	133215779	133215779	AT	A	criteria provided, single submitter	ClinGen:CA658658209