"Athena Diagnostics"[submitter] AND "POLGARF"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 448105	NM_002693.3(POLG):c.3323A>G (p.Tyr1108Cys)	POLG, POLGARF (Y1108C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1699813	NM_002693.3(POLG):c.3294T>G (p.Asn1098Lys)	POLG, POLGARF (N1098K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 586358	NM_002693.3(POLG):c.3073C>A (p.Leu1025Met)	POLG, POLGARF (L1025M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684310	NM_002693.3(POLG):c.2852A>G (p.Tyr951Cys)	POLG, POLGARF (Y951C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 586357	NM_002693.3(POLG):c.2644C>A (p.Pro882Thr)	POLG, POLGARF (P882T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684309	NM_002693.3(POLG):c.2633T>C (p.Val878Ala)	POLG, POLGARF (V878A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807560	NM_002693.3(POLG):c.2481-6dup	POLG, POLGARF	Duplication (intron variant)	not provided	GUncertain significance
Select item 448101	NM_002693.3(POLG):c.2372_2373delinsTC (p.Ala791Val)	POLG, POLGARF (A791V)	Indel (missense variant)	not specified	GUncertain significance
Select item 2684308	NM_002693.3(POLG):c.2215_2216insG (p.Tyr739Ter)	POLG, POLGARF (Y739*)	Insertion (nonsense)	not provided	GLikely pathogenic
Select item 586353	NM_002693.3(POLG):c.1784A>G (p.Gln595Arg)	POLG, POLGARF (Q595R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995214	NM_002693.3(POLG):c.1659G>T (p.Lys553Asn)	POLG, POLGARF (K553N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 986011	NM_002693.3(POLG):c.1127T>C (p.Leu376Pro)	POLG, POLGARF (L376P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 803122	NM_002693.3(POLG):c.844T>G (p.Tyr282Asp)	POLG, POLGARF (Y282D)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 986012	NM_002693.3(POLG):c.808A>G (p.Asn270Asp)	POLG, POLGARF (N270D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 994447	NM_002693.3(POLG):c.726T>A (p.Ala242=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +1 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 13515	NM_002693.3(POLG):c.679C>T (p.Arg227Trp)	POLG, POLGARF (R227W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 206581	NM_002693.3(POLG):c.678G>C (p.Gln226His)	POLG, POLGARF (Q226H)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1807556	NM_002693.3(POLG):c.610G>T (p.Ala204Ser)	POLG, POLGARF (A204S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 206580	NM_002693.3(POLG):c.609G>C (p.Leu203Phe)	POLG, POLGARF (L203F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 21318	NM_002693.3(POLG):c.578G>A (p.Arg193Gln)	POLG, POLGARF (R193Q)	Single nucleotide variant (missense variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 448108	NM_002693.3(POLG):c.559G>C (p.Val187Leu)	POLG, POLGARF (V187L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 586365	NM_002693.3(POLG):c.487C>T (p.Pro163Ser)	POLG, POLGARF (P163S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 206578	NM_002693.3(POLG):c.460G>A (p.Ala154Thr)	POLG, POLGARF (A154T)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +4 more	GUncertain significance
Select item 586364	NM_002693.3(POLG):c.453G>A (p.Leu151=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 206577	NM_002693.3(POLG):c.428C>T (p.Ala143Val)	POLG, POLGARF (A143V)	Single nucleotide variant (missense variant)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more	GConflicting classifications of pathogenicity
Select item 206576	NM_002693.3(POLG):c.408C>G (p.Asp136Glu)	POLG, POLGARF (D136E)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1807558	NM_002693.3(POLG):c.406G>T (p.Asp136Tyr)	POLG, POLGARF (D136Y)	Single nucleotide variant (missense variant)	not provided	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 582802	NM_002693.3(POLG):c.388C>T (p.Leu130Phe)	POLG, POLGARF (L130F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 206619	NM_002693.3(POLG):c.328C>T (p.His110Tyr)	POLG, POLGARF (H110Y)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 1807559	NM_002693.3(POLG):c.283C>A (p.Pro95Thr)	POLG, POLGARF (P95T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129992	NM_002693.3(POLG):c.264C>T (p.Phe88=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 1961036	NM_002693.3(POLG):c.178C>T (p.Gln60Ter)	POLG, POLGARF (Q60*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 501355	NM_002693.3(POLG):c.158_166del (p.Gln53_Gln55del)	POLG, POLGARF	Deletion (inframe_deletion)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 598699	NM_002693.3(POLG):c.160C>T (p.Gln54Ter)	POLG, POLGARF (Q54*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 458688	NM_002693.3(POLG):c.126GCA[15] (p.Gln52_Gln55dup)	POLG, POLGARF	Microsatellite (inframe_insertion)	Progressive sclerosing poliodystrophy +3 more	GLikely benign
Select item 422763	NM_002693.3(POLG):c.158_159delinsCT (p.Gln53Pro)	POLG, POLGARF (Q53P)	Indel (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 206485	NM_002693.3(POLG):c.154C>A (p.Gln52Lys)	POLG, POLGARF (Q52K)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 378909	NM_002693.3(POLG):c.150G>A (p.Gln50=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +2 more	GBenign/Likely benign
Select item 421770	NM_002693.2(POLG):c.125_139dup	POLGARF, POLG	Duplication (inframe_insertion)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 195179	NM_002693.3(POLG):c.134A>G (p.Gln45Arg)	POLG, POLGARF (Q45R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 419072	NM_002693.3(POLG):c.119GGC[4] (p.Arg42dup)	POLG, POLGARF	Microsatellite (inframe_insertion)	Progressive sclerosing poliodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 448099	NM_002693.3(POLG):c.101A>T (p.Asp34Val)	POLG, POLGARF (D34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 138755	NM_002693.3(POLG):c.87C>T (p.Ser29=)	POLGARF, POLG	Single nucleotide variant (synonymous variant)	POLG-Related Spectrum Disorders +5 more	GConflicting classifications of pathogenicity
Select item 206550	NM_002693.3(POLG):c.86C>G (p.Ser29Cys)	POLGARF, POLG (S29C)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GUncertain significance
Select item 528389	NM_002693.3(POLG):c.54G>C (p.Pro18=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +1 more	GLikely benign
Select item 586363	NM_002693.3(POLG):c.38C>G (p.Thr13Ser)	POLG, POLGARF (T13S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 195182	NM_002693.3(POLG):c.32G>A (p.Gly11Asp)	POLG, POLGARF (G11D)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +11 more	GConflicting classifications of pathogenicity

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Items: 50