"Eurofins Ntd Llc (ga)"[submitter] AND "POLG"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 595846	NM_000326.5(RLBP1):c.504_508del (p.Ser168fs)	POLG, RLBP1 (S168fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy +1 more	GPathogenic
Select item 21316	NM_002693.3(POLG):c.3708G>T (p.Gln1236His)	FANCI, POLG +1 more (Q1236H)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group I +12 more	GBenign/Likely benign
Select item 138767	NM_002693.3(POLG):c.3700C>A (p.Arg1234=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant +1 more)	Progressive sclerosing poliodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 598136	NM_002693.3(POLG):c.3680C>A (p.Thr1227Asn)	FANCI, POLG +1 more (T1227N)	Single nucleotide variant (missense variant +1 more)	not provided +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 597808	NM_002693.3(POLG):c.3643+2T>C	POLG, POLGARF	Single nucleotide variant (splice donor variant)	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 596562	NM_002693.3(POLG):c.3630C>T (p.Tyr1210=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 285869	NM_002693.3(POLG):c.3609_3612dup (p.Gly1205fs)	POLG, POLGARF (G1205fs)	Duplication (frameshift variant)	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 594667	NM_002693.3(POLG):c.3560G>A (p.Arg1187Gln)	POLG, POLGARF (R1187Q)	Single nucleotide variant (missense variant)	POLG-related disorder +7 more	GUncertain significance
Select item 206570	NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp)	POLG, POLGARF (R1187W)	Single nucleotide variant (missense variant)	POLG-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 586361	NM_002693.3(POLG):c.3511A>C (p.Asn1171His)	POLG, POLGARF (N1171H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 138760	NM_002693.3(POLG):c.3482+6C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	POLG-Related Spectrum Disorders +8 more	GConflicting classifications of pathogenicity
Select item 383336	NM_002693.3(POLG):c.3480C>T (p.Thr1160=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 596856	NM_002693.3(POLG):c.3468C>T (p.Thr1156=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 206477	NM_002693.3(POLG):c.3450C>T (p.Ala1150=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +3 more	GConflicting classifications of pathogenicity
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 195591	NM_002693.3(POLG):c.3425G>A (p.Arg1142Gln)	POLG, POLGARF (R1142Q)	Single nucleotide variant (missense variant)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +6 more	GUncertain significance
Select item 21311	NM_002693.3(POLG):c.3424C>T (p.Arg1142Trp)	POLG, POLGARF (R1142W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 593423	NM_002693.3(POLG):c.3383G>A (p.Arg1128His)	POLG, POLGARF (R1128H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 206557	NM_002693.3(POLG):c.3287G>A (p.Arg1096His)	POLG, POLGARF (R1096H)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +3 more	GConflicting classifications of pathogenicity
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 206555	NM_002693.3(POLG):c.3286C>G (p.Arg1096Gly)	POLG, POLGARF (R1096G)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome +2 more	GPathogenic/Likely pathogenic
Select item 596900	NM_002693.3(POLG):c.3258G>A (p.Ser1086=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 514380	NM_002693.3(POLG):c.3222G>T (p.Val1074=)	POLGARF, POLG	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 138757	NM_002693.3(POLG):c.3216C>G (p.Thr1072=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +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)	Progressive sclerosing poliodystrophy +5 more	GConflicting classifications of pathogenicity
Select item 317325	NM_002693.3(POLG):c.3197C>T (p.Thr1066Met)	POLG, POLGARF (T1066M)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +1 more	GUncertain significance
Select item 195487	NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser)	POLG, POLGARF (N1059S)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 206548	NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)	POLG, POLGARF (R1047W)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +5 more	GConflicting classifications of pathogenicity
Select item 129994	NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)	POLG, POLGARF (V1044A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +11 more	GConflicting classifications of pathogenicity
Select item 595165	NM_002693.3(POLG):c.3105G>A (p.Lys1035=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +1 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 206471	NM_002693.3(POLG):c.3104+8C>A	POLGARF, POLG	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 422378	NM_002693.3(POLG):c.3104+2T>A	POLG, POLGARF	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy +6 more	GLikely pathogenic
Select item 206470	NM_002693.3(POLG):c.3098C>T (p.Ala1033Val)	POLG, POLGARF (A1033V)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +7 more	GConflicting classifications of pathogenicity
Select item 392141	NM_002693.3(POLG):c.3046G>A (p.Glu1016Lys)	POLG, POLGARF (E1016K)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GUncertain significance
Select item 597293	NM_002693.3(POLG):c.3024G>A (p.Leu1008=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 194946	NM_002693.3(POLG):c.3014T>G (p.Val1005Gly)	POLG, POLGARF (V1005G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597842	NM_002693.3(POLG):c.3012G>T (p.Leu1004=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 500748	NM_002693.3(POLG):c.2994G>T (p.Ser998=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 287775	NM_002693.3(POLG):c.2994G>C (p.Ser998=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 206544	NM_002693.3(POLG):c.2987G>A (p.Arg996Gln)	POLG, POLGARF (R996Q)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +2 more	GUncertain significance
Select item 206543	NM_002693.3(POLG):c.2986C>T (p.Arg996Trp)	POLG, POLGARF (R996W)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GUncertain significance
Select item 405570	NM_002693.3(POLG):c.2977C>T (p.Arg993Cys)	POLG, POLGARF (R993C)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +9 more	GUncertain significance
Select item 597085	NM_002693.3(POLG):c.2943G>T (p.Lys981Asn)	POLG, POLGARF (K981N)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GUncertain significance
Select item 594107	NM_002693.3(POLG):c.2923CAG[1] (p.Gln976del)	POLG, POLGARF (Q976del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 206540	NM_002693.3(POLG):c.2915G>A (p.Arg972Gln)	POLG, POLGARF (R972Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 206537	NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)	POLG, POLGARF (R964C)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 595463	NM_002693.3(POLG):c.2884G>A (p.Ala962Thr)	POLGARF, POLG (A962T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 378415	NM_002693.3(POLG):c.2880C>T (p.Pro960=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +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 280016	NM_002693.3(POLG):c.2870C>T (p.Ala957Val)	POLG, POLGARF (A957V)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 594822	NM_002693.3(POLG):c.2865T>C (p.Tyr955=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 194838	NM_002693.3(POLG):c.2857C>T (p.Arg953Cys)	POLGARF, POLG (R953C)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +3 more	GConflicting classifications of pathogenicity
Select item 138753	NM_002693.3(POLG):c.2853C>T (p.Tyr951=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +5 more	GConflicting classifications of pathogenicity
Select item 501094	NM_002693.3(POLG):c.2831A>G (p.Glu944Gly)	POLGARF, POLG (E944G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 206535	NM_002693.3(POLG):c.2830G>A (p.Glu944Lys)	POLG, POLGARF (E944K)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +3 more	GUncertain significance
Select item 501460	NM_002693.3(POLG):c.2808C>G (p.Ala936=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 279961	NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)	POLGARF, POLG (T914P)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 497614	NM_002693.3(POLG):c.2739C>T (p.Cys913=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 138752	NM_002693.3(POLG):c.2735-7C>G	POLG, POLGARF	Single nucleotide variant (intron variant)	POLG-Related Spectrum Disorders +3 more	GConflicting classifications of pathogenicity
Select item 392282	NM_002693.3(POLG):c.2733T>G (p.His911Gln)	POLG, POLGARF (H911Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 194733	NM_002693.3(POLG):c.2724C>T (p.Ala908=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 593514	NM_002693.3(POLG):c.2704C>G (p.Leu902Val)	POLG, POLGARF (L902V)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +7 more	GUncertain significance
Select item 597264	NM_002693.3(POLG):c.2653A>G (p.Thr885Ala)	POLG, POLGARF (T885A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 206611	NM_002693.3(POLG):c.2642C>T (p.Pro881Leu)	POLG, POLGARF (P881L)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +2 more	GUncertain significance
Select item 206532	NM_002693.3(POLG):c.2636A>G (p.Gln879Arg)	POLG, POLGARF (Q879R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 287559	NM_002693.3(POLG):c.2632G>T (p.Val878Leu)	POLG, POLGARF (V878L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138750	NM_002693.3(POLG):c.2601T>C (p.Pro867=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +4 more	GConflicting classifications of pathogenicity
Select item 498704	NM_002693.3(POLG):c.2599-10C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 502515	NM_002693.3(POLG):c.2596C>T (p.Arg866Trp)	POLG, POLGARF (R866W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 13502	NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	POLG, POLGARF (G848S)	Single nucleotide variant (missense variant)	not provided +11 more	GPathogenic
Select item 138748	NM_002693.3(POLG):c.2541C>T (p.Ala847=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 13509	NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys)	POLG, POLGARF (Y831C)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GBenign/Likely benign
Select item 288698	NM_002693.3(POLG):c.2487C>T (p.Pro829=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
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)	POLG-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 194376	NM_002693.3(POLG):c.2369G>A (p.Arg790His)	POLG, POLGARF (R790H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GUncertain significance
Select item 596893	NM_002693.3(POLG):c.2277C>T (p.Ser759=)	POLGARF, POLG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 501901	NM_002693.3(POLG):c.2264A>C (p.Lys755Thr)	POLG, POLGARF (K755T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 206520	NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)	POLG, POLGARF (F749S)	Single nucleotide variant (missense variant)	not provided +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 458702	NM_002693.3(POLG):c.2221G>A (p.Asp741Asn)	POLG, POLGARF (D741N)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 258790	NM_002693.3(POLG):c.2220C>T (p.Asn740=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 594491	NM_002693.3(POLG):c.2209G>A (p.Gly737Arg)	POLG, POLGARF (G737R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	Inborn genetic diseases +10 more	GConflicting classifications of pathogenicity
Select item 206514	NM_002693.3(POLG):c.2177A>G (p.Lys726Arg)	POLG, POLGARF (K726R)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 381518	NM_002693.3(POLG):c.2165G>A (p.Arg722His)	POLG, POLGARF (R722H)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 499420	NM_002693.3(POLG):c.2158-10G>A	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 432235	NM_002693.3(POLG):c.2152G>T (p.Ala718Ser)	POLG, POLGARF (A718S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GUncertain significance
Select item 378413	NM_002693.3(POLG):c.2149C>T (p.Leu717=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 206512	NM_002693.3(POLG):c.2146C>T (p.Pro716Ser)	POLG, POLGARF (P716S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 595252	NM_002693.3(POLG):c.2133A>G (p.Ala711=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 206509	NM_002693.3(POLG):c.2085T>G (p.Asp695Glu)	POLG, POLGARF (D695E)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 138743	NM_002693.3(POLG):c.2028G>A (p.Ala676=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 451086	NM_002693.3(POLG):c.2027C>T (p.Ala676Val)	POLG, POLGARF (A676V)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 206506	NM_002693.3(POLG):c.2026G>A (p.Ala676Thr)	POLG, POLGARF (A676T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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