ポリメラーゼ校正関連ポリポーシス

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.3958C>T (p.Arg1320Ter)	POLE	Pathogenic	12	133225939	133225939	G	A	criteria provided, single submitter	ClinGen:CA16613662
single nucleotide variant	NM_006231.4(POLE):c.2468+1G>A	POLE	Likely pathogenic	12	133241887	133241887	C	T	criteria provided, single submitter	ClinGen:CA16613609
Duplication	NM_006231.4(POLE):c.3510dup (p.Leu1171fs)	POLE	Pathogenic	12	133233793	133233794	G	GT	criteria provided, single submitter	ClinGen:CA16613592
single nucleotide variant	NM_006231.4(POLE):c.4006-1G>T	POLE	Likely pathogenic	12	133225659	133225659	C	A	criteria provided, single submitter	ClinGen:CA16043996
single nucleotide variant	NM_006231.4(POLE):c.1270C>G (p.Leu424Val)	POLE	Pathogenic	12	133250250	133250250	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA130722,UniProtKB:Q07864#VAR_069344,OMIM:174762.0001