C0205710[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2677947	NM_002693.3(POLG):c.3643+1G>A	POLG	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy	GPathogenic
Select item 488798	NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter)	POLG (Q1214*)	Single nucleotide variant (nonsense)	Progressive sclerosing poliodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2677952	NM_002693.3(POLG):c.3626_3629dup (p.Tyr1210Ter)	POLG, POLGARF (Y1210*)	Duplication (nonsense)	Progressive sclerosing poliodystrophy	GPathogenic
Select item 1357431	NM_002693.3(POLG):c.3630C>G (p.Tyr1210Ter)	POLG (Y1210*)	Single nucleotide variant (nonsense)	Progressive sclerosing poliodystrophy	GPathogenic
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 1341586	NM_002693.3(POLG):c.3601del (p.Ser1201fs)	POLG (S1201fs)	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)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +1 more	GPathogenic/Likely pathogenic
Select item 817854	NM_002693.3(POLG):c.3568del (p.Arg1190fs)	POLG, POLGARF +1 more (R1190fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy +1 more	GLikely pathogenic
Select item 2677958	NM_002693.3(POLG):c.3565dup (p.Leu1189fs)	POLG, POLGARF (L1189fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 426100	NM_002693.3(POLG):c.3550G>A (p.Asp1184Asn)	POLG (D1184N)	Single nucleotide variant (missense variant)	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 3240173	NM_002693.3(POLG):c.3539dup (p.Ser1181fs)	POLG, POLGARF (S1181fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 2500695	NM_002693.3(POLG):c.3538_3539dup (p.Ala1182fs)	POLG (A1182fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy	GPathogenic/Likely pathogenic
Select item 2677955	NM_002693.3(POLG):c.3528_3531dup (p.Ala1178fs)	POLG, POLGARF (A1178fs)	Microsatellite (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 805230	NM_002693.3(POLG):c.3528_3531del (p.Val1177fs)	POLG, POLGARF (V1177fs)	Microsatellite (frameshift variant)	Progressive sclerosing poliodystrophy +1 more	GLikely pathogenic
Select item 430382	NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu)	POLG (S1176L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2677964	NM_002693.3(POLG):c.3483-7_3509del	POLG	Deletion (splice acceptor variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 619313	NM_002693.3(POLG):c.3483-4_3497del	POLG	Deletion (splice acceptor variant)	Progressive sclerosing poliodystrophy +2 more	GPathogenic/Likely pathogenic
Select item 1453904	NM_002693.3(POLG):c.3482+2T>C	POLG	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy	GPathogenic/Likely pathogenic
Select item 21313	NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys)	POLG (R1146C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 422438	NM_002693.3(POLG):c.3424dup (p.Arg1142fs)	POLG, POLGARF (R1142fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 206558	NM_002693.3(POLG):c.3406G>A (p.Glu1136Lys)	POLG (E1136K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 419336	NM_002693.3(POLG):c.3358_3361dup (p.Glu1121delinsValTer)	POLG	Duplication (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1517151	NM_002693.3(POLG):c.3328C>T (p.His1110Tyr)	POLG (H1110Y)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 2677954	NM_002693.3(POLG):c.3311C>G (p.Ser1104Cys)	POLG, POLGARF (S1104C)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 206557	NM_002693.3(POLG):c.3287G>A (p.Arg1096His)	POLG (R1096H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 206556	NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)	POLG (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 (R1096G)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome +2 more	GPathogenic/Likely pathogenic
Select item 381517	NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg)	POLG (S1095R)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +2 more	GPathogenic/Likely pathogenic
Select item 813494	NM_002693.3(POLG):c.3282del (p.Ser1095fs)	POLG, POLGARF (S1095fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy +1 more	GLikely pathogenic
Select item 2677943	NM_002693.3(POLG):c.3277_3278del (p.Met1093fs)	POLG, POLGARF (M1093fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 419974	NM_002693.3(POLG):c.3240_3242dup (p.Arg1081dup)	POLG	Duplication (inframe_insertion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 458712	NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln)	POLG (R1081Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +13 more	GConflicting classifications of pathogenicity
Select item 2677950	NM_002693.3(POLG):c.3229dup (p.Cys1077fs)	POLG, POLGARF (C1077fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 13516	NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu)	POLG (P1073L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2677949	NM_002693.3(POLG):c.3161_3162del (p.Glu1054fs)	POLG, POLGARF (E1054fs)	Microsatellite (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 817632	NM_002693.3(POLG):c.3158_3159del (p.Thr1053fs)	POLG, POLGARF (T1053fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 566044	NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg)	POLG (G1051R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 13501	NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)	POLG (G1051R)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +3 more	GConflicting classifications of pathogenicity
Select item 206548	NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)	POLG (R1047W)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 +5 more	GConflicting classifications of pathogenicity
Select item 587863	NM_002693.3(POLG):c.3104+3A>T	POLG	Single nucleotide variant (intron variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +3 more	GPathogenic
Select item 422378	NM_002693.3(POLG):c.3104+2T>A	POLG	Single nucleotide variant (splice donor variant)	not provided +6 more	GLikely pathogenic
Select item 619308	NM_002693.3(POLG):c.3104+1G>A	POLG	Single nucleotide variant (splice donor variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +6 more	GPathogenic/Likely pathogenic
Select item 206470	NM_002693.3(POLG):c.3098C>T (p.Ala1033Val)	POLG (A1033V)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 +7 more	GConflicting classifications of pathogenicity
Select item 432740	NM_002693.3(POLG):c.3037G>T (p.Asp1013Tyr)	POLG (D1013Y)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 859116	NM_002693.3(POLG):c.2981+2T>G	POLG	Single nucleotide variant (splice donor variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +1 more	GLikely pathogenic
Select item 2677957	NM_002693.3(POLG):c.2951_2954dup (p.Met985fs)	POLG, POLGARF (M985fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 372473	NM_002693.3(POLG):c.2897T>G (p.Leu966Arg)	POLG (L966R)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 206537	NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)	POLG (R964C)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 4b +8 more	GConflicting classifications of pathogenicity
Select item 845148	NM_002693.3(POLG):c.2884dup (p.Ala962fs)	POLG (A962fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy	GPathogenic/Likely pathogenic
Select item 13508	NM_002693.3(POLG):c.2869G>T (p.Ala957Ser)	POLG (A957S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GPathogenic/Likely pathogenic
Select item 619427	NM_002693.3(POLG):c.2858G>A (p.Arg953His)	POLG (R953H)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 194838	NM_002693.3(POLG):c.2857C>T (p.Arg953Cys)	POLG (R953C)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 +3 more	GConflicting classifications of pathogenicity
Select item 619302	NM_002693.3(POLG):c.2828G>A (p.Arg943His)	POLG (R943H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 431950	NM_002693.3(POLG):c.2799T>G (p.Ser933Arg)	POLG (S933R)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GLikely pathogenic
Select item 1030582	NM_002693.3(POLG):c.2777G>A (p.Ser926Asn)	POLG, POLGARF (S926N)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 279961	NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)	POLG (T914P)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 4b +8 more	GPathogenic/Likely pathogenic
Select item 448104	NM_002693.3(POLG):c.2665G>A (p.Ala889Thr)	POLG (A889T)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 436357	NM_002693.3(POLG):c.2606G>A (p.Arg869Gln)	POLG (R869Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 444352	NM_002693.3(POLG):c.2605C>T (p.Arg869Ter)	POLG (R869*)	Single nucleotide variant (nonsense)	Progressive sclerosing poliodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 431952	NM_002693.3(POLG):c.2584G>A (p.Ala862Thr)	POLG (A862T)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1033944	NM_002693.3(POLG):c.2566G>A (p.Glu856Lys)	POLG (E856K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 206529	NM_002693.3(POLG):c.2558G>A (p.Arg853Gln)	POLG (R853Q)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +3 more	GPathogenic/Likely pathogenic
Select item 13512	NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)	POLG (R853W)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome +3 more	GConflicting classifications of pathogenicity
Select item 206528	NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)	POLG (R852C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +9 more	GPathogenic
Select item 13502	NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	POLG (G848S)	Single nucleotide variant (missense variant)	Mitochondrial disease +12 more	GPathogenic
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 843452	NM_002693.3(POLG):c.2483A>T (p.His828Leu)	POLG (H828L)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2677953	NM_002693.3(POLG):c.2480+2T>C	POLG	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 619400	NM_002693.3(POLG):c.2480+1G>A	POLG, POLGARF	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy	GPathogenic
Select item 206523	NM_002693.3(POLG):c.2420G>A (p.Arg807His)	POLG (R807H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 279982	NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)	POLG (R807C)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 +4 more	GConflicting classifications of pathogenicity
Select item 206632	NM_002693.3(POLG):c.2395del (p.Ser799fs)	POLG (S799fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1030581	NM_002693.3(POLG):c.2384A>G (p.Asn795Ser)	POLG, POLGARF (N795S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 458703	NM_002693.3(POLG):c.2293C>A (p.Pro765Thr)	POLG (P765T)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GConflicting classifications of pathogenicity
Select item 206520	NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)	POLG (F749S)	Single nucleotide variant (missense variant)	Intellectual disability +6 more	GConflicting classifications of pathogenicity
Select item 13507	NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	POLG (W748S)	Single nucleotide variant (missense variant)	Mitochondrial disease +8 more	GPathogenic/Likely pathogenic
Select item 13513	NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)	POLG (G737R)	Single nucleotide variant (missense variant)	Mitochondrial disease +9 more	GPathogenic/Likely pathogenic
Select item 941768	NM_002693.3(POLG):c.2115G>A (p.Met705Ile)	POLG (M705I)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2677965	NM_002693.3(POLG):c.2070+2T>G	POLG, POLGARF	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 2677960	NM_002693.3(POLG):c.1944del (p.Tyr649fs)	POLG, POLGARF (Y649fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 206606	NM_002693.3(POLG):c.1943C>G (p.Pro648Arg)	POLG (P648R)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +2 more	GPathogenic/Likely pathogenic
Select item 436359	NM_002693.3(POLG):c.1880G>A (p.Arg627Gln)	POLG (R627Q)	Single nucleotide variant (missense variant)	POLG-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 13499	NM_002693.3(POLG):c.1879C>T (p.Arg627Trp)	POLG (R627W)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome +2 more	GPathogenic
Select item 206603	NM_002693.3(POLG):c.1868T>G (p.Leu623Trp)	POLG (L623W)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 3240178	NM_002693.3(POLG):c.1845_1846insTA (p.Glu616Ter)	POLG, POLGARF (E616*)	Insertion (nonsense)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 2677968	NM_002693.3(POLG):c.1845dup (p.Glu616fs)	POLG, POLGARF (E616fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 936926	NM_002693.3(POLG):c.1818del (p.Trp607fs)	POLG (W607fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy	GPathogenic/Likely pathogenic
Select item 381520	NM_002693.3(POLG):c.1789C>T (p.Arg597Trp)	POLG (R597W)	Single nucleotide variant (missense variant)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more	GPathogenic
Select item 13505	NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	POLG (P587L)	Single nucleotide variant (missense variant)	Mitochondrial disease +15 more	GConflicting classifications of pathogenicity
Select item 458695	NM_002693.3(POLG):c.1735C>T (p.Arg579Trp)	POLG (R579W)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 619321	NM_002693.3(POLG):c.1721G>A (p.Arg574Gln)	POLG (R574Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1452045	NM_002693.3(POLG):c.1720C>T (p.Arg574Trp)	POLG (R574W)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GPathogenic
Select item 3240172	NM_002693.3(POLG):c.1712+2T>G	POLG, POLGARF	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 2677946	NM_002693.3(POLG):c.1640_1641del (p.Ala547fs)	POLG, POLGARF (A547fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 1030580	NM_002693.3(POLG):c.1586-1G>A	MIR6766, POLG +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive sclerosing poliodystrophy +1 more	GLikely pathogenic
Select item 1458421	NM_002693.3(POLG):c.1575_1578del (p.Met525fs)	POLG (M525fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy	GPathogenic/Likely pathogenic
Select item 1457847	NM_002693.3(POLG):c.1433+2T>C	POLG	Single nucleotide variant (splice donor variant)	POLG-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 280017	NM_002693.3(POLG):c.1433+1G>A	POLG	Single nucleotide variant (splice donor variant)	not provided +6 more	GPathogenic
Select item 206596	NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)	POLG (N468D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +13 more	GConflicting classifications of pathogenicity
Select item 13496	NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	POLG (A467T)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +12 more	GPathogenic

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