ClinVar for MedGen (Select 375302) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802265	NM_002693.3(POLG):c.1403A>T (p.Asn468Ile)	POLG, POLGARF (N468I)	Single nucleotide variant (missense variant)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more	GUncertain significance
Select item 1698500	NM_002693.3(POLG):c.[1760C>T;752C>T]	POLG, POLGARF (T251I +1 more)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +1 more	GPathogenic
Select item 1564682	NM_002693.3(POLG):c.1023+17G>A	POLG, POLGARF	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 1 +5 more	GLikely benign
Select item 1496673	NM_021830.5(TWNK):c.1190A>G (p.Asp397Gly)	TWNK (D397G)	Single nucleotide variant (missense variant +2 more)	Perrault syndrome 5 +4 more	GUncertain significance
Select item 1455434	NM_002693.3(POLG):c.1457G>A (p.Trp486Ter)	POLG, POLGARF (W486*)	Single nucleotide variant (nonsense)	Progressive sclerosing poliodystrophy +4 more	GPathogenic
Select item 1444207	NM_002693.3(POLG):c.1433+5C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 1418532	NM_002693.3(POLG):c.3532G>A (p.Ala1178Thr)	POLG, POLGARF (A1178T)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 1412024	NM_002693.3(POLG):c.624C>A (p.Cys208Ter)	POLG, POLGARF (C208*)	Single nucleotide variant (nonsense)	Progressive sclerosing poliodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1405547	NM_002693.3(POLG):c.2485C>T (p.Pro829Ser)	POLG, POLGARF (P829S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 1396403	NM_002693.3(POLG):c.2094A>C (p.Glu698Asp)	POLG, POLGARF (E698D)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 1385866	NM_002693.3(POLG):c.3273+17G>A	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy +5 more	GConflicting classifications of pathogenicity
Select item 1361592	NM_002693.3(POLG):c.1907C>G (p.Thr636Arg)	POLG, POLGARF (T636R)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 1354124	NM_002693.3(POLG):c.995C>T (p.Ser332Phe)	POLG, POLGARF (S332F)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 1327430	NM_002693.3:c.2734+39_2734+40insAGGT	POLG, POLGARF	Insertion (intron variant)	Mitochondrial DNA depletion syndrome 4b +4 more	GBenign
Select item 1315451	NM_002693.3(POLG):c.3227G>A (p.Gly1076Asp)	POLG, POLGARF (G1076D)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1063541	NM_002693.3(POLG):c.856-3C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 1061081	NM_002693.3(POLG):c.200G>C (p.Gly67Ala)	POLGARF, POLG (G67A)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 1050879	NM_002693.3(POLG):c.2257C>T (p.Pro753Ser)	POLG, POLGARF (P753S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 1036787	NM_002693.3(POLG):c.1936G>T (p.Val646Phe)	POLG, POLGARF (V646F)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GUncertain significance
Select item 1017643	NM_002693.3(POLG):c.2255T>C (p.Leu752Pro)	POLG, POLGARF (L752P)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GUncertain significance
Select item 982840	NM_002693.3(POLG):c.1811C>T (p.Ala604Val)	POLG, POLGARF (A604V)	Single nucleotide variant (missense variant)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +1 more	GUncertain significance
Select item 966409	NM_002693.3(POLG):c.402C>G (p.Asn134Lys)	POLG, POLGARF (N134K)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 4b +6 more	GUncertain significance
Select item 888159	NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp)	POLG, POLGARF (G1051W)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 880257	NM_021830.5(TWNK):c.*453G>A	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive cerebellar ataxia +3 more	GUncertain significance
Select item 880052	NM_021830.5(TWNK):c.913G>A (p.Val305Ile)	TWNK (V305I)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GUncertain significance
Select item 879588	NM_021830.5(TWNK):c.-584G>C	TWNK	Single nucleotide variant (5 prime UTR variant +2 more)	Infantile onset spinocerebellar ataxia +3 more	GUncertain significance
Select item 879092	NM_021830.5(TWNK):c.*561C>T	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more	GUncertain significance
Select item 878940	NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr)	TWNK (A79T +1 more)	Single nucleotide variant (missense variant +1 more)	Infantile onset spinocerebellar ataxia +5 more	GConflicting classifications of pathogenicity
Select item 878844	NM_021830.5(TWNK):c.672T>C (p.Ala224=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	Infantile onset spinocerebellar ataxia +5 more	GConflicting classifications of pathogenicity
Select item 878551	NM_021830.5(TWNK):c.*769G>A	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Infantile onset spinocerebellar ataxia +3 more	GUncertain significance
Select item 878511	NM_021830.5(TWNK):c.*552G>C	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive cerebellar ataxia +3 more	GUncertain significance
Select item 878456	NM_021830.5(TWNK):c.*346A>C	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more	GUncertain significance
Select item 878455	NM_021830.5(TWNK):c.*341G>A	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more	GUncertain significance
Select item 878401	NM_021830.5(TWNK):c.1953G>A (p.Lys651=)	TWNK	Single nucleotide variant (3 prime UTR variant +2 more)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +4 more	GConflicting classifications of pathogenicity
Select item 878400	NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr)	TWNK (A182T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +4 more	GUncertain significance
Select item 878242	NM_021830.5(TWNK):c.596G>A (p.Arg199Gln)	TWNK (R199Q)	Single nucleotide variant (missense variant +2 more)	Infantile onset spinocerebellar ataxia +4 more	GUncertain significance
Select item 878124	NM_021830.5(TWNK):c.-592C>T	TWNK	Single nucleotide variant (5 prime UTR variant +2 more)	Infantile onset spinocerebellar ataxia +4 more	GUncertain significance
Select item 877431	NM_021830.5(TWNK):c.*248G>A	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more	GUncertain significance
Select item 877377	NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu)	TWNK (R155L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Infantile onset spinocerebellar ataxia +3 more	GUncertain significance
Select item 877318	NM_021830.5(TWNK):c.1572C>T (p.His524=)	TWNK	Single nucleotide variant (synonymous variant +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +4 more	GConflicting classifications of pathogenicity
Select item 877146	NM_021830.5(TWNK):c.-304G>A	TWNK	Single nucleotide variant (5 prime UTR variant +2 more)	Infantile onset spinocerebellar ataxia +3 more	GUncertain significance
Select item 877145	NM_021830.5(TWNK):c.-418C>T	TWNK	Single nucleotide variant (5 prime UTR variant +2 more)	Infantile onset spinocerebellar ataxia +3 more	GUncertain significance
Select item 877083	NM_021830.5(TWNK):c.-622C>T	TWNK	Single nucleotide variant (5 prime UTR variant +1 more)	Infantile onset spinocerebellar ataxia +3 more	GUncertain significance
Select item 861889	NM_002693.3(POLG):c.730C>G (p.Leu244Val)	POLGARF, POLG (L244V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 807661	NM_002693.3(POLG):c.1362G>T (p.Glu454Asp)	POLG, POLGARF (E454D)	Single nucleotide variant (missense variant)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	GLikely pathogenic
Select item 807660	NM_002693.3(POLG):c.2515del (p.Ala839fs)	POLG, POLGARF (A839fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 807659	NM_002693.3(POLG):c.3574_3577del (p.Lys1191_Glu1192insTer)	POLG, POLGARF	Microsatellite (nonsense)	Progressive sclerosing poliodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 807308	NM_002693.3(POLG):c.331G>C (p.Gly111Arg)	POLG, POLGARF (G111R)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +6 more	GUncertain significance
Select item 703069	NM_002693.3(POLG):c.3274-8C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy +5 more	GLikely benign
Select item 694430	NM_002693.3(POLG):c.3630C>A (p.Tyr1210Ter)	POLG, POLGARF (Y1210*)	Single nucleotide variant (nonsense)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	GPathogenic
Select item 694424	NM_002693.3(POLG):c.2792T>G (p.Leu931Arg)	POLG, POLGARF (L931R)	Single nucleotide variant (missense variant)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	GLikely pathogenic
Select item 689441	NM_002693.3(POLG):c.3211C>T (p.Arg1071Cys)	POLG, POLGARF (R1071C)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +5 more	GUncertain significance
Select item 648222	NM_002693.3(POLG):c.869G>A (p.Arg290His)	POLGARF, POLG (R290H)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GUncertain significance
Select item 640935	NM_002693.3(POLG):c.3255dup (p.Ser1086fs)	POLG, POLGARF (S1086fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy	GPathogenic
Select item 632124	NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro)	TWNK (R357P)	Single nucleotide variant (missense variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +4 more	GConflicting classifications of pathogenicity
Select item 625997	NM_002693.3(POLG):c.2466C>G (p.Pro822=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 4b +4 more	GUncertain significance
Select item 619492	NM_002693.3(POLG):c.3105-36A>G	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +5 more	GBenign
Select item 619447	NM_002693.3(POLG):c.824G>A (p.Arg275Gln)	POLG, POLGARF (R275Q)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GConflicting classifications of pathogenicity
Select item 619415	NM_002693.3(POLG):c.2074GAA[1] (p.Glu693del)	POLG, POLGARF (E693del)	Microsatellite (inframe_deletion)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 619398	NM_002693.3(POLG):c.2143C>T (p.Gln715Ter)	POLG, POLGARF (Q715*)	Single nucleotide variant (nonsense)	Progressive sclerosing poliodystrophy +5 more	GPathogenic
Select item 619385	NM_002693.3(POLG):c.2071-22T>C	POLG, POLGARF	Single nucleotide variant (intron variant)	POLG-related disorder +6 more	GBenign
Select item 619308	NM_002693.3(POLG):c.3104+1G>A	POLG, POLGARF	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy +6 more	GPathogenic/Likely pathogenic
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 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 593514	NM_002693.3(POLG):c.2704C>G (p.Leu902Val)	POLG, POLGARF (L902V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GUncertain significance
Select item 593213	NM_002693.3(POLG):c.739C>G (p.Leu247Val)	POLG, POLGARF (L247V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GUncertain significance
Select item 587834	NM_002693.3(POLG):c.431A>G (p.Gln144Arg)	POLG, POLGARF (Q144R)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +7 more	GUncertain significance
Select item 585152	NM_002693.3(POLG):c.260T>C (p.Ile87Thr)	POLG, POLGARF (I87T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 579888	NM_002693.3(POLG):c.2069C>T (p.Thr690Met)	POLG, POLGARF (T690M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GUncertain significance
Select item 571598	NM_002693.3(POLG):c.1669G>C (p.Glu557Gln)	POLG, POLGARF (E557Q)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GUncertain significance
Select item 522129	NM_002693.3(POLG):c.3317T>C (p.Val1106Ala)	POLG, POLGARF (V1106A)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GConflicting classifications of pathogenicity
Select item 507889	NM_021830.5(TWNK):c.1244-14C>T	TWNK	Single nucleotide variant (intron variant)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +4 more	GConflicting classifications of pathogenicity
Select item 502761	NM_002693.3(POLG):c.1420C>A (p.Leu474Ile)	POLG, POLGARF (L474I)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 458718	NM_002693.3(POLG):c.3667A>G (p.Ile1223Val)	FANCI, POLG +1 more (I1223V)	Single nucleotide variant (missense variant +1 more)	Progressive sclerosing poliodystrophy +8 more	GConflicting classifications of pathogenicity
Select item 458715	NM_002693.3(POLG):c.3442C>T (p.Arg1148Cys)	POLG, POLGARF (R1148C)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +7 more	GUncertain significance
Select item 458698	NM_002693.3(POLG):c.1882C>T (p.Arg628Trp)	POLGARF, POLG (R628W)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 458687	NM_002693.3(POLG):c.1276G>A (p.Gly426Ser)	POLG, POLGARF (G426S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GConflicting classifications of pathogenicity
Select item 452496	NM_002693.3(POLG):c.729C>A (p.Asp243Glu)	POLG, POLGARF (D243E)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +7 more	GUncertain significance
Select item 451086	NM_002693.3(POLG):c.2027C>T (p.Ala676Val)	POLG, POLGARF (A676V)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +7 more	GConflicting classifications of pathogenicity
Select item 449762	NM_002693.3(POLG):c.2530G>A (p.Val844Met)	POLG, POLGARF (V844M)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GUncertain significance
Select item 448102	NM_002693.3(POLG):c.2468G>A (p.Arg823His)	POLG, POLGARF (R823H)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 432673	NM_002693.3(POLG):c.629C>T (p.Thr210Ile)	POLG, POLGARF (T210I)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 432020	NM_002693.3(POLG):c.1613A>C (p.Glu538Ala)	POLG, POLGARF (E538A)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 427833	NM_002693.2(POLG):c.[2693T>C];[924G>T]			Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	GLikely pathogenic
Select item 426493	NM_021830.5(TWNK):c.56G>A (p.Gly19Glu)	TWNK (G19E)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive cerebellar ataxia +4 more	GConflicting classifications of pathogenicity
Select item 424791	NM_002693.2(POLG):c.[2554C>T];[32G>A]			Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 +1 more	GLikely pathogenic
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 413484	NM_002693.3(POLG):c.30C>T (p.Ala10=)	POLGARF, POLG	Single nucleotide variant (synonymous variant)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +5 more	GLikely benign
Select item 405570	NM_002693.3(POLG):c.2977C>T (p.Arg993Cys)	POLGARF, POLG (R993C)	Single nucleotide variant (missense variant)	not specified +9 more	GUncertain significance
Select item 388649	NM_002693.3(POLG):c.3204C>G (p.Asp1068Glu)	POLGARF, POLG (D1068E)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 383137	NM_021830.5(TWNK):c.1609T>C (p.Tyr537His)	TWNK (Y537H +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive cerebellar ataxia +7 more	GConflicting classifications of pathogenicity
Select item 381520	NM_002693.3(POLG):c.1789C>T (p.Arg597Trp)	POLG, POLGARF (R597W)	Single nucleotide variant (missense variant)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +2 more	GPathogenic
Select item 298520	NM_021830.5(TWNK):c.*766A>T	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +3 more	GBenign
Select item 298519	NM_021830.5(TWNK):c.*763T>C	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more	GUncertain significance
Select item 298518	NM_021830.5(TWNK):c.*747C>G	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +3 more	GUncertain significance
Select item 298517	NM_021830.5(TWNK):c.*709C>G	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Infantile onset spinocerebellar ataxia +3 more	GUncertain significance
Select item 298516	NM_021830.5(TWNK):c.*619G>A	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +3 more	GUncertain significance
Select item 298515	NM_021830.5(TWNK):c.*574C>T	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive cerebellar ataxia +3 more	GUncertain significance
Select item 298514	NM_021830.5(TWNK):c.*555G>A	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Infantile onset spinocerebellar ataxia +3 more	GUncertain significance
Select item 298513	NM_021830.5(TWNK):c.*521C>G	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive cerebellar ataxia +4 more	GBenign

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