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.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_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
Deletion	NM_006231.4(POLE):c.1226+2_1226+5del	POLE	Likely pathogenic	12	133251979	133251982	CCCTA	C	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.4006-2A>T	POLE	Likely pathogenic	12	133225660	133225660	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.4445-2A>C	POLE	Likely pathogenic	12	133219918	133219918	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.1021-1G>C	POLE	Likely pathogenic	12	133252407	133252407	C	G	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_132660959)_(132661174_?)del	POLE	Pathogenic	12	133237545	133237760	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.1106+2T>G	POLE	Likely pathogenic	12	133252319	133252319	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.2707-2A>G	POLE	Likely pathogenic	12	133238272	133238272	T	C	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_132672205)_(132681289_?)del	POLE	Pathogenic	12	133248791	133257875	na	na	criteria provided, single submitter	-