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.1350_1360del (p.Glu450fs)	POLE	Pathogenic	12	133250161	133250171	CCTGGGGCTGCT	C	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.1474-1G>C	POLE	Likely pathogenic	12	133249426	133249426	C	G	criteria provided, single submitter	-
Duplication	NM_006231.4(POLE):c.1625dup (p.His543fs)	POLE	Pathogenic	12	133249273	133249274	G	GC	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	-
Deletion	NM_006231.4(POLE):c.1673del (p.Cys558fs)	POLE	Pathogenic	12	133249226	133249226	GC	G	criteria provided, single submitter	ClinGen:CA16613882
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.1686+32C>G	POLE	Pathogenic/Likely pathogenic	12	133249181	133249181	G	C	criteria provided, multiple submitters, no conflicts	OMIM:174762.0003
Deletion	NC_000012.12:g.(?_132672205)_(132681289_?)del	POLE	Pathogenic	12	133248791	133257875	na	na	criteria provided, single submitter	-
Duplication	NM_006231.4(POLE):c.1836dup (p.Val613fs)	POLE	Pathogenic	12	133245483	133245484	C	CG	criteria provided, single submitter	ClinGen:CA482849577
single nucleotide variant	NM_006231.4(POLE):c.2026+1G>C	POLE	Likely pathogenic	12	133245220	133245220	C	G	criteria provided, single submitter	-