C1843851[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 298494	NM_021830.5(TWNK):c.76G>A (p.Gly26Ser)	TWNK (G26S)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 298495	NM_021830.5(TWNK):c.77G>T (p.Gly26Val)	TWNK (G26V)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive cerebellar ataxia +4 more	GUncertain significance
Select item 279715	NM_021830.5(TWNK):c.241C>G (p.Leu81Val)	TWNK (L81V)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 136587	NM_021830.5(TWNK):c.639C>T (p.Gly213=)	TWNK	Single nucleotide variant (synonymous variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +6 more	GConflicting classifications of pathogenicity
Select item 298500	NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)	TWNK (G348R)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive cerebellar ataxia +5 more	GConflicting classifications of pathogenicity
Select item 136588	NM_021830.5(TWNK):c.1102G>A (p.Val368Ile)	TWNK (V368I)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia +6 more	GBenign
Select item 136589	NM_021830.5(TWNK):c.1593-5C>T	TWNK	Single nucleotide variant (intron variant)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +5 more	GBenign
Select item 136590	NM_021830.5(TWNK):c.1593-3T>C	TWNK	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 298504	NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu)	TWNK (P618L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Infantile onset spinocerebellar ataxia +4 more	GUncertain significance
Select item 214178	NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)	TWNK (A659T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive cerebellar ataxia +5 more	GConflicting classifications of pathogenicity
Select item 21316	NM_002693.3(POLG):c.3708G>T (p.Gln1236His)	FANCI, POLG (Q1236H)	Single nucleotide variant (missense variant +1 more)	not provided +12 more	GBenign/Likely benign
Select item 458718	NM_002693.3(POLG):c.3667A>G (p.Ile1223Val)	FANCI, POLG (I1223V)	Single nucleotide variant (missense variant +1 more)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 21312	NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)	FANCI, POLG (E1143G)	Single nucleotide variant (missense variant)	Mitochondrial disease	GBenign FDA Recognized database
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 129994	NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)	POLG (V1044A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +11 more	GConflicting classifications of pathogenicity
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 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 13502	NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	POLG (G848S)	Single nucleotide variant (missense variant)	Mitochondrial disease +12 more	GPathogenic
Select item 194376	NM_002693.3(POLG):c.2369G>A (p.Arg790His)	POLG (R790H)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +9 more	GUncertain significance
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 206519	NM_002693.3(POLG):c.2218A>G (p.Asn740Asp)	POLG (N740D)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
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 206516	NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)	POLG (N736S)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 206509	NM_002693.3(POLG):c.2085T>G (p.Asp695Glu)	POLG (D695E)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 193643	NM_002693.3(POLG):c.1837C>T (p.His613Tyr)	POLG (H613Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GConflicting classifications of pathogenicity
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 571598	NM_002693.3(POLG):c.1669G>C (p.Glu557Gln)	POLG (E557Q)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 432020	NM_002693.3(POLG):c.1613A>C (p.Glu538Ala)	POLG (E538A)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 206631	NM_002693.3(POLG):c.1570C>G (p.Pro524Ala)	POLG (P524A)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 65665	NM_002693.3(POLG):c.1550G>T (p.Gly517Val)	POLG (G517V)	Single nucleotide variant (missense variant)	Tip-toe gait +10 more	GConflicting classifications of pathogenicity
Select item 13510	NM_002693.3(POLG):c.1491G>C (p.Gln497His)	POLG (Q497H)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
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
Select item 206589	NM_002693.3(POLG):c.1156C>T (p.Arg386Cys)	POLG (R386C)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 4b +4 more	GConflicting classifications of pathogenicity
Select item 196354	NM_002693.3(POLG):c.803G>C (p.Gly268Ala)	POLG (G268A)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 13503	NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	POLG (T251I)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +16 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 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 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 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 167523	NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del)	POLG, POLGARF	Microsatellite (inframe_deletion)	not specified +8 more	GBenign/Likely benign

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Items: 43