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_002691.4(POLD1):c.1433G>A (p.Ser478Asn)	POLD1	Pathogenic/Likely pathogenic	19	50909713	50909713	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA130715,UniProtKB:P28340#VAR_069335,OMIM:174761.0001
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
single nucleotide variant	NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro)	POLD1	Pathogenic/Likely pathogenic	19	50909701	50909701	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA170564,UniProtKB:P28340#VAR_071966,OMIM:174761.0004
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
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.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.3958C>T (p.Arg1320Ter)	POLE	Pathogenic	12	133225939	133225939	G	A	criteria provided, single submitter	ClinGen:CA16613662
Insertion	NM_006231.4(POLE):c.3501_3502insGGTCAAA (p.His1168fs)	POLE	Pathogenic	12	133233802	133233803	G	GTTTGACC	criteria provided, single submitter	ClinGen:CA16613670
Indel	NM_006231.3(POLE):c.2189_2199delinsT (p.Ala730fs)	POLE	Pathogenic	12	133244209	133244219	CTTCTTGTAGG	A	criteria provided, single submitter	ClinGen:CA16613870
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