"PreventionGenetics, part of Exact Sciences"[submitter] AND "POLG"[gen - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 257489	NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=)	FANCI, POLG	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group I +4 more	GBenign/Likely benign
Select item 317308	NM_002693.3(POLG):c.*49G>A	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant)	POLG-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 317309	NM_002693.3(POLG):c.*44G>C	POLG, POLGARF +1 more	Single nucleotide variant (3 prime UTR variant)	POLG-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 3054030	NM_002693.3(POLG):c.*42C>T	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant)	POLG-related disorder	GLikely benign
Select item 21316	NM_002693.3(POLG):c.3708G>T (p.Gln1236His)	FANCI, POLG +1 more (Q1236H)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +12 more	GBenign/Likely benign
Select item 2749286	NM_002693.3(POLG):c.3666G>A (p.Gln1222=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant +1 more)	Progressive sclerosing poliodystrophy +1 more	GLikely benign
Select item 1687690	NM_002693.3(POLG):c.3666G>C (p.Gln1222His)	FANCI, POLG +1 more (Q1222H)	Single nucleotide variant (missense variant +1 more)	POLG-related disorder +1 more	GUncertain significance
Select item 206489	NM_002693.3(POLG):c.3652C>T (p.Leu1218=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant +1 more)	POLG-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 696413	NM_002693.3(POLG):c.3644-9_3644-6dup	FANCI, POLG +1 more	Duplication (intron variant +1 more)	POLG-related disorder +1 more	GLikely benign
Select item 129998	NM_002693.3(POLG):c.3644-9A>G	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 206488	NM_002693.3(POLG):c.3644-14G>C	POLGARF, FANCI +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 619343	NM_002693.3(POLG):c.3614G>C (p.Gly1205Ala)	POLG, POLGARF (G1205A)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 138766	NM_002693.3(POLG):c.3597C>A (p.Thr1199=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 1081772	NM_002693.3(POLG):c.3576A>G (p.Glu1192=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +1 more	GLikely benign
Select item 426681	NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn)	POLG, POLGARF (K1191N)	Single nucleotide variant (missense variant)	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 129997	NM_002693.3(POLG):c.3561G>C (p.Arg1187=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 594667	NM_002693.3(POLG):c.3560G>A (p.Arg1187Gln)	POLG, POLGARF (R1187Q)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +7 more	GUncertain significance
Select item 206570	NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp)	POLG, POLGARF (R1187W)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GConflicting classifications of pathogenicity
Select item 317322	NM_002693.3(POLG):c.3549C>T (p.Val1183=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 452604	NM_002693.3(POLG):c.3547G>A (p.Val1183Ile)	POLG, POLGARF (V1183I)	Single nucleotide variant (missense variant)	POLG-related disorder +1 more	GUncertain significance
Select item 413485	NM_002693.3(POLG):c.3519G>A (p.Leu1173=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 206568	NM_002693.3(POLG):c.3505G>A (p.Gly1169Ser)	POLG, POLGARF (G1169S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +7 more	GUncertain significance
Select item 619313	NM_002693.3(POLG):c.3483-4_3497del	POLG, POLGARF	Deletion (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 138763	NM_002693.3(POLG):c.3483-19T>G	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided +6 more	GBenign
Select item 129996	NM_002693.3(POLG):c.3482+7G>A	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 458716	NM_002693.3(POLG):c.3482+6C>G	POLG, POLGARF	Single nucleotide variant (intron variant)	POLG-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 378418	NM_002693.3(POLG):c.3451C>T (p.Leu1151=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 378417	NM_002693.3(POLG):c.3444C>T (p.Arg1148=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 21312	NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)	FANCI, POLG +1 more (E1143G)	Single nucleotide variant (missense variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 21311	NM_002693.3(POLG):c.3424C>T (p.Arg1142Trp)	POLG, POLGARF (R1142W)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +3 more	GUncertain significance
Select item 3034345	NM_002693.3(POLG):c.3402T>C (p.His1134=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	POLG-related disorder	GLikely benign
Select item 138759	NM_002693.3(POLG):c.3294T>C (p.Asn1098=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 206556	NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)	POLG, POLGARF (R1096C)	Single nucleotide variant (missense variant)	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 391063	NM_002693.3(POLG):c.3282C>G (p.Thr1094=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	POLG-related disorder +3 more	GLikely benign
Select item 138758	NM_002693.3(POLG):c.3274-19G>A	POLG, POLGARF	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 514380	NM_002693.3(POLG):c.3222G>T (p.Val1074=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 138756	NM_002693.3(POLG):c.3198G>A (p.Thr1066=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1431486	NM_002693.3(POLG):c.3107C>T (p.Ser1036Leu)	POLG, POLGARF (S1036L)	Single nucleotide variant (missense variant)	POLG-related disorder +2 more	GUncertain significance
Select item 138754	NM_002693.3(POLG):c.3105-11T>C	FANCI, POLG +1 more	Single nucleotide variant (intron variant)	POLG-Related Spectrum Disorders +7 more	GBenign/Likely benign
Select item 206469	NM_002693.3(POLG):c.3017G>A (p.Arg1006Lys)	POLG, POLGARF (R1006K)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +2 more	GUncertain significance
Select item 857083	NM_002693.3(POLG):c.2993C>T (p.Ser998Leu)	POLG, POLGARF (S998L)	Single nucleotide variant (missense variant)	POLG-related disorder +2 more	GUncertain significance
Select item 2900247	NM_002693.3(POLG):c.2981+7G>A	POLG, POLGARF	Single nucleotide variant (intron variant)	POLG-related disorder +1 more	GLikely benign
Select item 405570	NM_002693.3(POLG):c.2977C>T (p.Arg993Cys)	POLG, POLGARF (R993C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GUncertain significance
Select item 129993	NM_002693.3(POLG):c.2958C>T (p.Tyr986=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 378415	NM_002693.3(POLG):c.2880C>T (p.Pro960=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 594839	NM_002693.3(POLG):c.2878C>T (p.Pro960Ser)	POLG, POLGARF (P960S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3031336	NM_002693.3(POLG):c.2775G>A (p.Lys925=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	POLG-related disorder	GLikely benign
Select item 279961	NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)	POLG, POLGARF (T914P)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 2749852	NM_002693.3(POLG):c.2734+9G>C	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy +1 more	GLikely benign
Select item 206531	NM_002693.3(POLG):c.2620T>A (p.Leu874Met)	POLG, POLGARF (L874M)	Single nucleotide variant (missense variant)	POLG-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 138750	NM_002693.3(POLG):c.2601T>C (p.Pro867=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	POLG-Related Spectrum Disorders +4 more	GConflicting classifications of pathogenicity
Select item 2861933	NM_002693.3(POLG):c.2599-7C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	POLG-related disorder +1 more	GLikely benign
Select item 696224	NM_002693.3(POLG):c.2583C>T (p.Thr861=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 13502	NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	POLG, POLGARF (G848S)	Single nucleotide variant (missense variant)	POLG-related disorder +11 more	GPathogenic
Select item 13509	NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys)	POLG, POLGARF (Y831C)	Single nucleotide variant (missense variant)	POLG-related disorder +6 more	GBenign/Likely benign
Select item 288698	NM_002693.3(POLG):c.2487C>T (p.Pro829=)	POLGARF, POLG	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 206467	NM_002693.3(POLG):c.2481-6C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 138747	NM_002693.3(POLG):c.2481-7C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy +4 more	GBenign/Likely benign
Select item 317326	NM_002693.3(POLG):c.2481-10A>C	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 379675	NM_002693.3(POLG):c.2446C>G (p.Leu816Val)	POLG, POLGARF (L816V)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +2 more	GUncertain significance
Select item 619327	NM_002693.3(POLG):c.2437GTG[1] (p.Val814del)	POLGARF, POLG (V814del)	Microsatellite (inframe_deletion)	POLG-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2174469	NM_002693.3(POLG):c.2341G>A (p.Ala781Thr)	POLG, POLGARF (A781T)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1143945	NM_002693.3(POLG):c.2266-8C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy +1 more	GLikely benign
Select item 1807554	NM_002693.3(POLG):c.2265+1G>A	POLG, POLGARF	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 129991	NM_002693.3(POLG):c.2254C>T (p.Leu752=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 206520	NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)	POLG, POLGARF (F749S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GConflicting classifications of pathogenicity
Select item 13507	NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	POLG, POLGARF (W748S)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 258790	NM_002693.3(POLG):c.2220C>T (p.Asn740=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 13513	NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)	POLG, POLGARF (G737R)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 206516	NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)	POLG, POLGARF (N736S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +10 more	GConflicting classifications of pathogenicity
Select item 3053690	NM_002693.3(POLG):c.2202T>C (p.His734=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	POLG-related disorder	GLikely benign
Select item 2629837	NM_002693.3(POLG):c.2193C>G (p.Ser731Arg)	POLG, POLGARF (S731R)	Single nucleotide variant (missense variant)	POLG-related disorder	GUncertain significance
Select item 1547165	NM_002693.3(POLG):c.2166T>C (p.Arg722=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	POLG-related disorder +1 more	GLikely benign
Select item 1562440	NM_002693.3(POLG):c.2157+14C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	POLG-related disorder +1 more	GLikely benign
Select item 378413	NM_002693.3(POLG):c.2149C>T (p.Leu717=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 381338	NM_002693.3(POLG):c.2118G>A (p.Glu706=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 138745	NM_002693.3(POLG):c.2109C>T (p.Ala703=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +5 more	GConflicting classifications of pathogenicity
Select item 680331	NM_002693.3(POLG):c.2100G>A (p.Glu700=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	POLG-related disorder +2 more	GLikely benign
Select item 138744	NM_002693.3(POLG):c.2071-14T>G	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 1581470	NM_002693.3(POLG):c.2071-15C>T	POLGARF, POLG	Single nucleotide variant (intron variant)	POLG-related disorder +1 more	GLikely benign
Select item 619385	NM_002693.3(POLG):c.2071-22T>C	POLG, POLGARF	Single nucleotide variant (intron variant)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +6 more	GBenign
Select item 3029127	NM_002693.3(POLG):c.2071-24A>G	POLG, POLGARF	Single nucleotide variant (intron variant)	POLG-related disorder	GLikely benign
Select item 206508	NM_002693.3(POLG):c.2059A>G (p.Ile687Val)	POLG, POLGARF (I687V)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +7 more	GUncertain significance
Select item 888219	NM_002693.3(POLG):c.2040G>A (p.Leu680=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	POLG-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 206462	NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)	POLGARF, POLG (G674D)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 285501	NM_002693.3(POLG):c.2019C>T (p.Ala673=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	POLG-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3035924	NM_002693.3(POLG):c.1991G>C (p.Gly664Ala)	POLG, POLGARF (G664A)	Single nucleotide variant (missense variant)	POLG-related disorder	GUncertain significance
Select item 21310	NM_002693.3(POLG):c.1984G>A (p.Glu662Lys)	POLG, POLGARF (E662K)	Single nucleotide variant (missense variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 595215	NM_002693.3(POLG):c.1977C>T (p.His659=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 761614	NM_002693.3(POLG):c.1968C>T (p.Tyr656=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +1 more	GLikely benign
Select item 517996	NM_002693.3(POLG):c.1965G>A (p.Leu655=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +2 more	GLikely benign
Select item 1298635	NM_002693.3(POLG):c.1957G>A (p.Glu653Lys)	POLG, POLGARF (E653K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1581528	NM_002693.3(POLG):c.1947C>T (p.Tyr649=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	POLG-related disorder +1 more	GLikely benign
Select item 378411	NM_002693.3(POLG):c.1905G>T (p.Pro635=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 317330	NM_002693.3(POLG):c.1905G>A (p.Pro635=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 206605	NM_002693.3(POLG):c.1898A>C (p.Lys633Thr)	POLG, POLGARF (K633T)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +4 more	GConflicting classifications of pathogenicity
Select item 436359	NM_002693.3(POLG):c.1880G>A (p.Arg627Gln)	POLG, POLGARF (R627Q)	Single nucleotide variant (missense variant)	POLG-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 516490	NM_002693.3(POLG):c.1867T>C (p.Leu623=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 593891	NM_002693.3(POLG):c.1842C>T (p.Tyr614=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 193643	NM_002693.3(POLG):c.1837C>T (p.His613Tyr)	POLG, POLGARF (H613Y)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity

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