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
single nucleotide variant	NM_006231.4(POLE):c.5658C>A (p.Tyr1886Ter)	POLE	Pathogenic	12	133214620	133214620	G	T	criteria provided, single submitter	-
Deletion	NM_006231.4(POLE):c.5783_5784del (p.Lys1928fs)	POLE	Pathogenic	12	133212505	133212506	CTT	C	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.5867A>T (p.Glu1956Val)	POLE	Likely pathogenic	12	133210909	133210909	T	A	criteria provided, single submitter	-
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.6002C>G (p.Ser2001Ter)	POLE	Pathogenic	12	133210774	133210774	G	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.6026del (p.His2009fs)	POLE	Pathogenic	12	133209360	133209360	GT	G	criteria provided, single submitter	-
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.6273_6280del (p.Gly2092fs)	POLE	Pathogenic	12	133208951	133208958	TGGGAACCG	T	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.6330+1G>A	POLE	Likely pathogenic	12	133208900	133208900	C	T	criteria provided, single submitter	-