"Revvity Omics, Revvity"[submitter] AND "POLGARF"[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435150	NM_002693.3(POLG):c.3701dup (p.Ser1235fs)	FANCI, POLG +1 more (S1235fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 488798	NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter)	POLG, POLGARF (Q1214*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 619311	NM_002693.3(POLG):c.3430_3433dup (p.Asp1145fs)	POLG, POLGARF (D1145fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy +1 more	GPathogenic
Select item 2432818	NM_002693.3(POLG):c.3365_3366del (p.Glu1122fs)	POLG, POLGARF (E1122fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 206561	NM_002693.3(POLG):c.3346A>G (p.Met1116Val)	POLG, POLGARF (M1116V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 419974	NM_002693.3(POLG):c.3240_3242dup (p.Arg1081dup)	POLG, POLGARF	Duplication (inframe_insertion)	Progressive sclerosing poliodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 13501	NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)	POLG, POLGARF (G1051R)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +3 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)	Progressive sclerosing poliodystrophy +11 more	GConflicting classifications of pathogenicity
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 2435148	NM_002693.3(POLG):c.2954T>C (p.Met985Thr)	POLG, POLGARF (M985T)	Single nucleotide variant (missense variant)	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 372473	NM_002693.3(POLG):c.2897T>G (p.Leu966Arg)	POLG, POLGARF (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)	POLGARF, POLG (R964C)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 4b +8 more	GConflicting classifications of pathogenicity
Select item 13502	NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	POLG, POLGARF (G848S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +11 more	GPathogenic
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 577990	NM_002693.3(POLG):c.2217_2230dup (p.Ile744fs)	POLG, POLGARF (I744fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy +2 more	GPathogenic/Likely pathogenic
Select item 206519	NM_002693.3(POLG):c.2218A>G (p.Asn740Asp)	POLGARF, POLG (N740D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	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 206507	NM_002693.3(POLG):c.2051A>G (p.Asn684Ser)	POLG, POLGARF (N684S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 888220	NM_002693.3(POLG):c.1910G>A (p.Gly637Asp)	POLG, POLGARF (G637D)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +3 more	GUncertain significance
Select item 206605	NM_002693.3(POLG):c.1898A>C (p.Lys633Thr)	POLG, POLGARF (K633T)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 436359	NM_002693.3(POLG):c.1880G>A (p.Arg627Gln)	POLGARF, POLG (R627Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 13499	NM_002693.3(POLG):c.1879C>T (p.Arg627Trp)	POLG, POLGARF (R627W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 282075	NM_002693.3(POLG):c.1850G>A (p.Arg617His)	POLG, POLGARF (R617H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2435147	NM_002693.3(POLG):c.1838A>T (p.His613Leu)	POLGARF, POLG (H613L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193643	NM_002693.3(POLG):c.1837C>T (p.His613Tyr)	POLG, POLGARF (H613Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GConflicting classifications of pathogenicity
Select item 939873	NM_002693.3(POLG):c.1798C>T (p.Pro600Ser)	POLGARF, POLG (P600S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GUncertain significance
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 +3 more	GPathogenic
Select item 436360	NM_002693.3(POLG):c.1761G>A (p.Pro587=)	POLGARF, POLG	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 13505	NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	POLG, POLGARF (P587L)	Single nucleotide variant (missense variant)	Global developmental delay +14 more	GConflicting classifications of pathogenicity
Select item 206500	NM_002693.3(POLG):c.1599C>G (p.Cys533Trp)	POLG, POLGARF (C533W)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +3 more	GConflicting classifications of pathogenicity
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 206630	NM_002693.3(POLG):c.1403A>G (p.Asn468Ser)	POLG, POLGARF (N468S)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 206596	NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)	POLG, POLGARF (N468D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +12 more	GConflicting classifications of pathogenicity
Select item 13496	NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	POLG, POLGARF (A467T)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +12 more	GPathogenic
Select item 2689805	NM_002693.3(POLG):c.1343C>T (p.Ala448Val)	POLG, POLGARF (A448V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1220071	NM_002693.3(POLG):c.1251-5C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2432801	NM_002693.3(POLG):c.1171-2A>C	POLG, POLGARF	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 206589	NM_002693.3(POLG):c.1156C>T (p.Arg386Cys)	POLG, POLGARF (R386C)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +4 more	GConflicting classifications of pathogenicity
Select item 2435151	NM_002693.3(POLG):c.1146G>C (p.Met382Ile)	POLG, POLGARF (M382I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 21320	NM_002693.3(POLG):c.970C>T (p.Pro324Ser)	POLG, POLGARF (P324S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GConflicting classifications of pathogenicity
Select item 381521	NM_002693.3(POLG):c.926G>A (p.Arg309His)	POLG, POLGARF (R309H)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GPathogenic/Likely pathogenic
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 13497	NM_002693.3(POLG):c.911T>G (p.Leu304Arg)	POLG, POLGARF (L304R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GPathogenic/Likely pathogenic
Select item 206583	NM_002693.3(POLG):c.830A>T (p.His277Leu)	POLG, POLGARF (H277L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +7 more	GConflicting classifications of pathogenicity
Select item 969072	NM_002693.3(POLG):c.809A>G (p.Asn270Ser)	POLG, POLGARF (N270S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 196354	NM_002693.3(POLG):c.803G>C (p.Gly268Ala)	POLG, POLGARF (G268A)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +11 more	GConflicting classifications of pathogenicity
Select item 13503	NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	POLG, POLGARF (T251I)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +15 more	GConflicting classifications of pathogenicity
Select item 2435149	NM_002693.3(POLG):c.680G>A (p.Arg227Gln)	POLG, POLGARF (R227Q)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GUncertain significance
Select item 13515	NM_002693.3(POLG):c.679C>T (p.Arg227Trp)	POLG, POLGARF (R227W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 458719	NM_002693.3(POLG):c.398A>G (p.Asp133Gly)	POLG, POLGARF (D133G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 206492	NM_002693.3(POLG):c.391T>C (p.Tyr131His)	POLG, POLGARF (Y131H)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 419760	NM_002693.3(POLG):c.159_164dup (p.Gln54_Gln55dup)	POLG, POLGARF	Duplication (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 206474	NM_002693.3(POLG):c.116A>G (p.Gln39Arg)	POLG, POLGARF (Q39R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 424403	NM_002693.3(POLG):c.101A>G (p.Asp34Gly)	POLG, POLGARF (D34G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1217033	NM_002693.3(POLG):c.56T>C (p.Val19Ala)	POLGARF, POLG (V19A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2432810	NM_002693.3(POLG):c.18G>A (p.Trp6Ter)	POLG, POLGARF (W6*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic

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Items: 57