"Genome-Nilou Lab"[submitter] AND "POLE"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 371835	NM_006231.4(POLE):c.6657+16C>T	POLE	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 380218	NM_006231.4(POLE):c.6330+15G>A	POLE	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 380217	NM_006231.4(POLE):c.6252A>G (p.Ser2084=)	POLE	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 676506	NM_006231.4(POLE):c.5812-21G>A	POLE	Single nucleotide variant (intron variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +2 more	GBenign
Select item 676501	NM_006231.4(POLE):c.5553-43T>C	POLE	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1232447	NM_006231.4(POLE):c.5173+39G>A	POLE	Single nucleotide variant (intron variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +2 more	GBenign
Select item 380214	NM_006231.4(POLE):c.4530A>G (p.Ala1510=)	POLE	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 380215	NM_006231.4(POLE):c.4187A>G (p.Asn1396Ser)	POLE (N1396S)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
Select item 380211	NM_006231.4(POLE):c.3582+17A>G	POLE	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 380212	NM_006231.4(POLE):c.3156G>A (p.Thr1052=)	POLE	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 1281902	NM_006231.4(POLE):c.2864+37A>G	POLE	Single nucleotide variant (intron variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +2 more	GBenign
Select item 676496	NM_006231.4(POLE):c.2562-48T>C	POLE	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1249118	NM_006231.4(POLE):c.1359+43G>A	POLE	Single nucleotide variant (intron variant)	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +2 more	GBenign
Select item 380209	NM_006231.4(POLE):c.910-6G>C	POLE	Single nucleotide variant (intron variant)	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +5 more	GBenign
Select item 380208	NM_006231.4(POLE):c.62+15C>T	LOC130009266, POLE	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign