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.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.2468+1G>A	POLE	Likely pathogenic	12	133241887	133241887	C	T	criteria provided, single submitter	ClinGen:CA16613609
single nucleotide variant	NM_006231.4(POLE):c.3276-2A>G	POLE	Likely pathogenic	12	133234558	133234558	T	C	criteria provided, single submitter	ClinGen:CA16613876
single nucleotide variant	NM_006231.4(POLE):c.3060+2T>G	POLE	Likely pathogenic	12	133237553	133237553	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA6893380
single nucleotide variant	NM_006231.4(POLE):c.2865-2A>G	POLE	Likely pathogenic	12	133237752	133237752	T	C	criteria provided, single submitter	ClinGen:CA16613902
single nucleotide variant	NM_006231.4(POLE):c.720+1G>A	POLE	Likely pathogenic	12	133254163	133254163	C	T	criteria provided, single submitter	ClinGen:CA16614044
single nucleotide variant	NM_006231.4(POLE):c.1089C>G (p.Asn363Lys)	POLE	Likely pathogenic	12	133252338	133252338	G	C	criteria provided, single submitter	ClinGen:CA16619477
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
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.1686+1G>C	POLE	Likely pathogenic	12	133249212	133249212	C	G	criteria provided, single submitter	ClinGen:CA387356438