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.1089C>G (p.Asn363Lys)	POLE	Likely pathogenic	12	133252338	133252338	G	C	criteria provided, single submitter	ClinGen:CA16619477
Duplication	NM_006231.4(POLE):c.663dup (p.Arg222fs)	POLE	Pathogenic	12	133254220	133254221	G	GC	criteria provided, single submitter	ClinGen:CA16614045
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.2659A>T (p.Lys887Ter)	POLE	Pathogenic	12	133240637	133240637	T	A	criteria provided, single submitter	ClinGen:CA16613907
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.3060+2T>G	POLE	Likely pathogenic	12	133237553	133237553	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA6893380
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.3276-2A>G	POLE	Likely pathogenic	12	133234558	133234558	T	C	criteria provided, single submitter	ClinGen:CA16613876
Indel	NM_006231.3(POLE):c.2189_2199delinsT (p.Ala730fs)	POLE	Pathogenic	12	133244209	133244219	CTTCTTGTAGG	A	criteria provided, single submitter	ClinGen:CA16613870
Insertion	NM_006231.4(POLE):c.3501_3502insGGTCAAA (p.His1168fs)	POLE	Pathogenic	12	133233802	133233803	G	GTTTGACC	criteria provided, single submitter	ClinGen:CA16613670