ClinVar for MedGen (Select 60012) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377419	NM_002693.3(POLG):c.419G>T (p.Arg140Leu)	POLG, POLGARF (R140L)	Single nucleotide variant (synonymous variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 3243755	NC_000015.9:g.(?_89862162)_(89864159_?)del	POLG	Deletion	Progressive sclerosing poliodystrophy	GPathogenic
Select item 3243754	NC_000015.9:g.(?_89856115)_(89862000_?)del	FANCI, POLG	Deletion	Progressive sclerosing poliodystrophy	GPathogenic
Select item 3243753	NC_000015.9:g.(?_89860587)_(89876985_?)del	POLG	Deletion	Progressive sclerosing poliodystrophy	GPathogenic
Select item 3243752	NC_000015.9:g.(?_89862142)_(89867152_?)del	POLG	Deletion	Progressive sclerosing poliodystrophy	GPathogenic
Select item 3243751	NC_000015.9:g.(?_89873292)_(89873527_?)del	POLG	Deletion	Progressive sclerosing poliodystrophy	GPathogenic
Select item 3243750	NC_000015.9:g.(?_89860587)_(89860787_?)del	POLG	Deletion	Progressive sclerosing poliodystrophy	GPathogenic
Select item 3243700	NC_000015.9:g.(?_89828307)_(89876985_?)del	FANCI, POLG	Deletion	Fanconi anemia +1 more	GPathogenic
Select item 3241955	NM_002693.3(POLG):c.2755A>G (p.Met919Val)	POLG, POLGARF (M919V)	Single nucleotide variant (missense variant)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +2 more	GLikely pathogenic
Select item 3240178	NM_002693.3(POLG):c.1845_1846insTA (p.Glu616Ter)	POLG, POLGARF (E616*)	Insertion (nonsense)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 3240176	NM_002693.3(POLG):c.740del (p.Leu247fs)	POLG, POLGARF (L247fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 3240175	NM_002693.3(POLG):c.855+1G>C	POLG, POLGARF	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 3240174	NM_002693.3(POLG):c.659+1G>C	POLG, POLGARF	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 3240173	NM_002693.3(POLG):c.3539dup (p.Ser1181fs)	POLG, POLGARF (S1181fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
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 3240171	NM_002693.3(POLG):c.130C>T (p.Gln44Ter)	POLG, POLGARF (Q44*)	Single nucleotide variant (nonsense)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 3023274	NM_002693.3(POLG):c.2158-12T>C	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3021471	NM_002693.3(POLG):c.1335G>C (p.Leu445=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3019306	NM_002693.3(POLG):c.2981+5G>C	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 3017121	NM_002693.3(POLG):c.3104+16G>A	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3016543	NM_002693.3(POLG):c.1170+19C>T	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3015966	NM_002693.3(POLG):c.720G>A (p.Ser240=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3015922	NM_002693.3(POLG):c.2605C>A (p.Arg869=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3015822	NM_002693.3(POLG):c.2981+20C>G	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3015811	NM_002693.3(POLG):c.660-12C>G	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3015655	NM_002693.3(POLG):c.1950-28GCT[5]	POLG	Microsatellite (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3013692	NM_002693.3(POLG):c.3482+1G>T	POLG	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy	GPathogenic
Select item 3013329	NM_002693.3(POLG):c.3187A>G (p.Ser1063Gly)	POLG (S1063G)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 3012605	NM_002693.3(POLG):c.2266-16C>T	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 3011612	NM_002693.3(POLG):c.3483-19_3483-17del	POLG	Deletion (intron variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 3011541	NM_002693.3(POLG):c.777A>G (p.Arg259=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3011384	NM_002693.3(POLG):c.3219G>T (p.Pro1073=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3010773	NM_002693.3(POLG):c.1586-8C>A	POLG, MIR6766	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3010108	NM_002693.3(POLG):c.393C>T (p.Tyr131=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3008558	NM_002693.3(POLG):c.755G>C (p.Gly252Ala)	POLG (G252A)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 3008404	NM_002693.3(POLG):c.1369C>A (p.Arg457=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3008375	NM_002693.3(POLG):c.1893G>A (p.Leu631=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3006158	NM_002693.3(POLG):c.2734+18T>A	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3005242	NM_002693.3(POLG):c.2530G>C (p.Val844Leu)	POLG (V844L)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 3004882	NM_002693.3(POLG):c.2208T>C (p.Asn736=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3004819	NM_002693.3(POLG):c.2072T>C (p.Val691Ala)	POLG (V691A)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 3004155	NM_002693.3(POLG):c.111C>T (p.Asp37=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3003890	NM_002693.3(POLG):c.1171-7G>A	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3003581	NM_002693.3(POLG):c.3366G>A (p.Glu1122=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3003414	NM_002693.3(POLG):c.630A>G (p.Thr210=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3003226	NM_002693.3(POLG):c.3393C>T (p.Ile1131=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3003177	NM_002693.3(POLG):c.3303A>G (p.Val1101=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3002669	NM_002693.3(POLG):c.2801A>G (p.Lys934Arg)	POLG (K934R)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 3000828	NM_002693.3(POLG):c.471G>T (p.Leu157=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 3000540	NM_002693.3(POLG):c.94G>A (p.Ala32Thr)	POLG, POLGARF (A32T)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2999616	NM_002693.3(POLG):c.456G>A (p.Glu152=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2999546	NM_002693.3(POLG):c.1434-9G>A	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2999526	NM_002693.3(POLG):c.2067A>G (p.Gln689=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2999175	NM_002693.3(POLG):c.3482+12C>T	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2998679	NM_002693.3(POLG):c.155_175dup (p.Gln58_Pro59insGlnGlnGlnGlnProGlnGln)	POLG, POLGARF	Duplication (inframe_insertion)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2997814	NM_002693.3(POLG):c.71G>T (p.Arg24Leu)	POLG, POLGARF (R24L)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2996962	NM_002693.3(POLG):c.2200C>G (p.His734Asp)	POLG (H734D)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2996176	NM_002693.3(POLG):c.225C>T (p.Asp75=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2995647	NM_002693.3(POLG):c.1023+14G>C	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2995511	NM_002693.3(POLG):c.3273+9C>T	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2995309	NM_002693.3(POLG):c.1251-4C>A	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2995218	NM_002693.3(POLG):c.1550G>A (p.Gly517Glu)	POLG (G517E)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2995124	NM_002693.3(POLG):c.1644C>T (p.Cys548=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2992797	NM_002693.3(POLG):c.3510G>C (p.Leu1170=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2992771	NM_002693.3(POLG):c.3644-9_3644-8del	FANCI, POLG	Deletion (3 prime UTR variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2991008	NM_002693.3(POLG):c.591C>A (p.Phe197Leu)	POLG, POLGARF (F197L)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2990566	NM_002693.3(POLG):c.2810C>G (p.Thr937Ser)	POLG (T937S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2989740	NM_002693.3(POLG):c.1242C>T (p.Phe414=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2989546	NM_002693.3(POLG):c.2598+7G>A	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2988879	NM_002693.3(POLG):c.39C>G (p.Thr13=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2987131	NM_002693.3(POLG):c.3645T>G (p.Gly1215=)	FANCI, POLG	Single nucleotide variant (synonymous variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2986750	NM_002693.3(POLG):c.2466C>T (p.Pro822=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2985768	NM_002693.3(POLG):c.2734+18T>C	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2985562	NM_002693.3(POLG):c.2364G>A (p.Gly788=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2985558	NM_002693.3(POLG):c.2367C>A (p.Pro789=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2984997	NM_002693.3(POLG):c.2426+17G>T	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2984995	NM_002693.3(POLG):c.2981+11C>T	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2984797	NM_002693.3(POLG):c.2734+10A>G	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2984054	NM_002693.3(POLG):c.1585+7A>G	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2982816	NM_002693.3(POLG):c.1352C>T (p.Thr451Ile)	POLG (T451I)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2982720	NM_002693.3(POLG):c.1417C>T (p.Leu473=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2980794	NM_002693.3(POLG):c.1428A>G (p.Gly476=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2979365	NM_002693.3(POLG):c.273A>G (p.Gly91=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2979224	NM_002693.3(POLG):c.1250+13C>T	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2978438	NM_002693.3(POLG):c.1758C>G (p.Thr586=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2977961	NM_002693.3(POLG):c.2265+20C>T	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy +1 more	GLikely benign
Select item 2977394	NM_002693.3(POLG):c.3342G>T (p.Val1114=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2975025	NM_002693.3(POLG):c.2218_2220del (p.Asn740del)	POLG (N740del)	Deletion (inframe_deletion)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2974889	NM_002693.3(POLG):c.1533C>T (p.Ser511=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2974690	NM_002693.3(POLG):c.2037C>T (p.Phe679=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2973663	NM_002693.3(POLG):c.3049G>A (p.Gly1017Ser)	POLG (G1017S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2973075	NM_002693.3(POLG):c.216C>T (p.Asn72=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2972711	NM_002693.3(POLG):c.3713G>C (p.Gly1238Ala)	FANCI, POLG (G1238A)	Single nucleotide variant (missense variant +1 more)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2971522	NM_002693.3(POLG):c.508G>T (p.Ala170Ser)	POLG, POLGARF (A170S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2971100	NM_002693.3(POLG):c.1151A>G (p.Asp384Gly)	POLG (D384G)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2970694	NM_002693.3(POLG):c.119_142dup (p.Gln47_Gln48insArgArgArgGlnGlnGlnGlnGln)	POLG, POLGARF	Duplication (inframe_insertion)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2970602	NM_002693.3(POLG):c.2914C>A (p.Arg972=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2968380	NM_002693.3(POLG):c.3693G>A (p.Leu1231=)	FANCI, POLG	Single nucleotide variant (synonymous variant +1 more)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2965247	NM_002693.3(POLG):c.1896C>G (p.Ala632=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GLikely benign
Select item 2961317	NM_002693.3(POLG):c.1434-20C>T	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy	GLikely benign

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