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.4900del (p.Arg1634fs)	POLE	Pathogenic	12	133219144	133219144	CG	C	criteria provided, single submitter	ClinGen:CA658658216
Deletion	NM_006231.4(POLE):c.4959del (p.His1654fs)	POLE	Pathogenic	12	133218977	133218977	GA	G	criteria provided, single submitter	-
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.5103_5173+29del	POLE	Likely pathogenic	12	133218734	133218833	CTCATGGGCCTCGTCCTCCCGCCCACTTACCTGTGGAGTAACAGCCTGAACTGTTGATCTCAACAGTGGCTTGGTCATCGAACTCCATGACAAGACAGTTG	C	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.5174-2A>C	POLE	Likely pathogenic	12	133218439	133218439	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.5245G>T (p.Glu1749Ter)	POLE	Pathogenic	12	133218366	133218366	C	A	criteria provided, single submitter	-
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.5336del (p.Pro1779fs)	POLE	Pathogenic	12	133218275	133218275	CG	C	criteria provided, single submitter	-
Deletion	NM_006231.4(POLE):c.5423del (p.Gln1808fs)	POLE	Pathogenic	12	133215840	133215840	CT	C	criteria provided, single submitter	-
Deletion	NM_006231.4(POLE):c.5484del (p.Ser1829fs)	POLE	Pathogenic	12	133215779	133215779	AT	A	criteria provided, single submitter	ClinGen:CA658658209