ClinVar for MedGen (Select 371919) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3027430	NM_002693.3(POLG):c.2363_2374del (p.Gly788_Leu792delinsVal)	POLG, POLGARF	Deletion (3 prime UTR variant +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	GUncertain significance
Select item 2585021	NM_002693.3(POLG):c.3488T>A (p.Met1163Lys)	POLG, POLGARF (M1163K)	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	GUncertain significance
Select item 2578542	NM_002693.3(POLG):c.975dup (p.Thr326fs)	POLG, POLGARF (T326fs)	Duplication (3 prime UTR variant +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	GUncertain significance
Select item 2444357	NM_002693.3(POLG):c.3393C>G (p.Ile1131Met)	POLG, POLGARF (I1131M)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	GUncertain significance
Select item 1710434	NM_002693.3(POLG):c.2287G>A (p.Gly763Arg)	POLG, POLGARF (G763R)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	GLikely pathogenic
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 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 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 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 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 859116	NM_002693.3(POLG):c.2981+2T>G	POLG, POLGARF	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy +1 more	GLikely pathogenic
Select item 807309	NM_002693.3(POLG):c.88G>A (p.Val30Ile)	POLG, POLGARF (V30I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 694438	NM_021830.5(TWNK):c.1422G>C (p.Trp474Cys)	TWNK (W20C +1 more)	Single nucleotide variant (missense variant +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +1 more	GPathogenic
Select item 694423	NM_002693.3(POLG):c.2678C>T (p.Ser893Phe)	POLG, POLGARF (S893F)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	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 656231	NM_002693.3(POLG):c.1198G>A (p.Val400Met)	POLG, POLGARF (V400M)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +1 more	GConflicting classifications of pathogenicity
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 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 619422	NM_002693.3(POLG):c.2669A>C (p.Asp890Ala)	POLG, POLGARF (D890A)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	GPathogenic
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 548594	NM_002693.3(POLG):c.1615_1623del (p.Phe539_Gln541del)	POLG, POLGARF	Deletion (inframe_deletion)	not provided +3 more	GConflicting classifications of pathogenicity
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 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 449949	NM_002693.3(POLG):c.1646del (p.Leu549fs)	POLG, POLGARF (L549fs)	Deletion (frameshift variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +1 more	GLikely pathogenic
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 448103	NM_002693.3(POLG):c.2509T>C (p.Tyr837His)	POLG, POLGARF (Y837H)	Single nucleotide variant (missense variant)	not specified +3 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 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 291293	NM_002693.3(POLG):c.1097G>C (p.Gly366Ala)	POLG, POLGARF (G366A)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +6 more	GUncertain significance
Select item 280375	NM_002693.3(POLG):c.925C>T (p.Arg309Cys)	POLG, POLGARF (R309C)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GPathogenic
Select item 280017	NM_002693.3(POLG):c.1433+1G>A	POLG, POLGARF	Single nucleotide variant (splice donor variant)	POLG-related disorder +7 more	GPathogenic
Select item 279961	NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)	POLGARF, POLG (T914P)	Single nucleotide variant (missense variant)	POLG-related disorder +9 more	GPathogenic/Likely pathogenic
Select item 239380	NM_002693.3(POLG):c.3075G>A (p.Leu1025=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 218615	NM_002693.3(POLG):c.2510A>G (p.Tyr837Cys)	POLG, POLGARF (Y837C)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GUncertain significance
Select item 206631	NM_002693.3(POLG):c.1570C>G (p.Pro524Ala)	POLG, POLGARF (P524A)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 206630	NM_002693.3(POLG):c.1403A>G (p.Asn468Ser)	POLG, POLGARF (N468S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GUncertain significance
Select item 206620	NM_002693.3(POLG):c.346C>T (p.Pro116Ser)	POLG, POLGARF (P116S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GConflicting classifications of pathogenicity
Select item 206619	NM_002693.3(POLG):c.328C>T (p.His110Tyr)	POLG, POLGARF (H110Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 206612	NM_002693.3(POLG):c.3077G>A (p.Arg1026His)	POLG, POLGARF (R1026H)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 206596	NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)	POLG, POLGARF (N468D)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +12 more	GConflicting classifications of pathogenicity
Select item 206593	NM_002693.3(POLG):c.1328G>A (p.Arg443His)	POLG, POLGARF (R443H)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GUncertain significance
Select item 206588	NM_002693.3(POLG):c.915C>G (p.Ser305Arg)	POLG, POLGARF (S305R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 206586	NM_002693.3(POLG):c.862C>T (p.Arg288Cys)	POLG, POLGARF (R288C)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GConflicting classifications of pathogenicity
Select item 206582	NM_002693.3(POLG):c.719C>T (p.Ser240Leu)	POLG, POLGARF (S240L)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GUncertain significance
Select item 206581	NM_002693.3(POLG):c.678G>C (p.Gln226His)	POLG, POLGARF (Q226H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 206578	NM_002693.3(POLG):c.460G>A (p.Ala154Thr)	POLG, POLGARF (A154T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 206575	NM_002693.3(POLG):c.3650C>T (p.Ala1217Val)	FANCI, POLG +1 more (A1217V)	Single nucleotide variant (missense variant +1 more)	POLG-Related Spectrum Disorders +9 more	GUncertain significance
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 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 206552	NM_002693.3(POLG):c.3215C>G (p.Thr1072Ser)	POLG, POLGARF (T1072S)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 206550	NM_002693.3(POLG):c.86C>G (p.Ser29Cys)	POLGARF, POLG (S29C)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 206548	NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)	POLG, POLGARF (R1047W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 206546	NM_002693.3(POLG):c.3076C>T (p.Arg1026Cys)	POLGARF, POLG (R1026C)	Single nucleotide variant (missense variant)	POLG-related disorder +8 more	GUncertain significance
Select item 206529	NM_002693.3(POLG):c.2558G>A (p.Arg853Gln)	POLG, POLGARF (R853Q)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome +3 more	GPathogenic/Likely pathogenic
Select item 206528	NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)	POLG, POLGARF (R852C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GPathogenic
Select item 206519	NM_002693.3(POLG):c.2218A>G (p.Asn740Asp)	POLG, POLGARF (N740D)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +7 more	GUncertain significance
Select item 206516	NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)	POLG, POLGARF (N736S)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +10 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

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