"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "POLGARF"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683324	NM_002693.3(POLG):c.3271G>A (p.Glu1091Lys)	POLG, POLGARF (E1091K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 206521	NM_002693.3(POLG):c.2252A>G (p.Lys751Arg)	POLG, POLGARF (K751R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163577	NM_002693.3(POLG):c.2188C>A (p.Pro730Thr)	POLG, POLGARF (P730T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683326	NM_002693.3(POLG):c.1591G>C (p.Gly531Arg)	POLG, POLGARF (G531R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163975	NM_002693.3(POLG):c.1361A>C (p.Glu454Ala)	POLG, POLGARF (E454A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693653	NM_002693.3(POLG):c.1351A>T (p.Thr451Ser)	POLG, POLGARF (T451S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683327	NM_002693.3(POLG):c.1070C>T (p.Ala357Val)	POLG, POLGARF (A357V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683328	NM_002693.3(POLG):c.725C>A (p.Ala242Asp)	POLG, POLGARF (A242D)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GUncertain significance
Select item 1026332	NM_002693.3(POLG):c.722C>T (p.Pro241Leu)	POLG, POLGARF (P241L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1339608	NM_002693.3(POLG):c.660-2A>G	POLG, POLGARF	Single nucleotide variant (splice acceptor variant)	Progressive sclerosing poliodystrophy +1 more	GPathogenic/Likely pathogenic
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 559174	NM_002693.3(POLG):c.484C>G (p.Leu162Val)	POLG, POLGARF (L162V)	Single nucleotide variant (missense variant)	not provided	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 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 458719	NM_002693.3(POLG):c.398A>G (p.Asp133Gly)	POLG, POLGARF (D133G)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +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 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 1446460	NM_002693.3(POLG):c.327G>T (p.Lys109Asn)	POLG, POLGARF (K109N)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GUncertain significance
Select item 381522	NM_002693.3(POLG):c.264C>G (p.Phe88Leu)	POLGARF, POLG (F88L)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 1054134	NM_002693.3(POLG):c.187T>C (p.Ser63Pro)	POLG, POLGARF (S63P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2683329	NM_002693.3(POLG):c.149_166del (p.Gln50_Gln55del)	POLG, POLGARF	Deletion (inframe deletion +1 more)	not provided	GUncertain significance
Select item 419760	NM_002693.3(POLG):c.159_164dup (p.Gln54_Gln55dup)	POLG, POLGARF	Duplication (inframe_insertion)	Progressive sclerosing poliodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 206484	NM_002693.3(POLG):c.126GCA[13] (p.Gln54_Gln55dup)	POLG, POLGARF	Microsatellite (inframe_insertion)	Hereditary spastic paraplegia +4 more	GBenign/Likely benign
Select item 206482	NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup)	POLG, POLGARF	Microsatellite (inframe_insertion)	Inborn genetic diseases +8 more	GBenign/Likely benign
Select item 167522	NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup)	POLG, POLGARF	Microsatellite (inframe_insertion)	not provided +11 more	GBenign/Likely benign
Select item 138762	NM_002693.3(POLG):c.159A>G (p.Gln53=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 289240	NM_002693.3(POLG):c.126GCA[4] (p.Gln49_Gln55del)	POLG, POLGARF	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 167523	NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del)	POLG, POLGARF	Microsatellite (inframe_deletion)	not specified +8 more	GBenign/Likely benign
Select item 167521	NM_002693.3(POLG):c.126GCA[10] (p.Gln55del)	POLG, POLGARF (Q55del)	Microsatellite (inframe_deletion)	not specified +5 more	GBenign/Likely benign
Select item 559176	NM_002693.3(POLG):c.153G>A (p.Gln51=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy	GBenign/Likely benign
Select item 195177	NM_002693.3(POLG):c.131A>G (p.Gln44Arg)	POLG, POLGARF (Q44R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1047240	NM_002693.3(POLG):c.127_128insGGCAGC (p.Arg42_Gln43insArgGln)	POLG, POLGARF	Insertion (inframe_insertion)	Progressive sclerosing poliodystrophy +1 more	GUncertain significance
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 129989	NM_002693.3(POLG):c.128A>G (p.Gln43Arg)	POLG, POLGARF (Q43R)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 206476	NM_002693.3(POLG):c.125G>A (p.Arg42Gln)	POLG, POLGARF (R42Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 559177	NM_002693.3(POLG):c.122G>A (p.Arg41Gln)	POLG, POLGARF (R41Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163976	NM_002693.3(POLG):c.119G>T (p.Arg40Leu)	POLG, POLGARF (R40L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3380324	NM_002693.3(POLG):c.61G>C (p.Ala21Pro)	POLG, POLGARF (A21P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 528383	NM_002693.3(POLG):c.1A>G (p.Met1Val)	POLG, POLGARF (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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Items: 40