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
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	-
Deletion	NC_000012.12:g.(?_132632305)_(132632805_?)del	POLE	Pathogenic	12	133208891	133209391	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.2026+1G>C	POLE	Likely pathogenic	12	133245220	133245220	C	G	criteria provided, single submitter	-