C0205710[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1353105	NM_002693.3(POLG):c.3710C>T (p.Pro1237Leu)	FANCI, POLG (P1237L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 598136	NM_002693.3(POLG):c.3680C>A (p.Thr1227Asn)	FANCI, POLG (T1227N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 488798	NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter)	POLG (Q1214*)	Single nucleotide variant (nonsense)	Progressive sclerosing poliodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 138766	NM_002693.3(POLG):c.3597C>A (p.Thr1199=)	POLG	Single nucleotide variant (synonymous variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 426681	NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn)	POLG (K1191N)	Single nucleotide variant (missense variant)	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 374526	NM_002693.3(POLG):c.3542G>A (p.Ser1181Asn)	POLG (S1181N)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1151735	NM_002693.3(POLG):c.3522C>T (p.Pro1174=)	POLG	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1424324	NM_002693.3(POLG):c.3483-12_3498dup	POLG	Duplication (splice acceptor variant)	not provided +1 more	GUncertain significance
Select item 586360	NM_002693.3(POLG):c.3445G>A (p.Ala1149Thr)	POLG (A1149T)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GUncertain significance
Select item 206564	NM_002693.3(POLG):c.3443G>A (p.Arg1148His)	POLG (R1148H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 559173	NM_002693.3(POLG):c.3412C>T (p.Arg1138Cys)	POLG (R1138C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 317323	NM_002693.3(POLG):c.3334A>T (p.Met1112Leu)	POLG (M1112L)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +2 more	GUncertain significance
Select item 138756	NM_002693.3(POLG):c.3198G>A (p.Thr1066=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +5 more	GConflicting classifications of pathogenicity
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 1431486	NM_002693.3(POLG):c.3107C>T (p.Ser1036Leu)	POLG (S1036L)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GUncertain significance
Select item 1163576	NM_002693.3(POLG):c.3104+2_3104+5del	POLG	Deletion (splice donor variant)	Progressive sclerosing poliodystrophy +1 more	GLikely pathogenic
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 392141	NM_002693.3(POLG):c.3046G>A (p.Glu1016Lys)	POLG (E1016K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 619429	NM_002693.3(POLG):c.2998G>A (p.Glu1000Lys)	POLG (E1000K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 206544	NM_002693.3(POLG):c.2987G>A (p.Arg996Gln)	POLG (R996Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 129993	NM_002693.3(POLG):c.2958C>T (p.Tyr986=)	POLG, FANCI	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +6 more	GBenign/Likely benign
Select item 206537	NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)	POLG (R964C)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 4b +8 more	GConflicting classifications of pathogenicity
Select item 595463	NM_002693.3(POLG):c.2884G>A (p.Ala962Thr)	POLG (A962T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 13495	NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys)	POLG (Y955C)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome +2 more	GPathogenic
Select item 1693652	NM_002693.3(POLG):c.2849A>G (p.Asn950Ser)	POLG (N950S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GUncertain significance
Select item 619302	NM_002693.3(POLG):c.2828G>A (p.Arg943His)	POLG (R943H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 194733	NM_002693.3(POLG):c.2724C>T (p.Ala908=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +4 more	GConflicting classifications of pathogenicity
Select item 502515	NM_002693.3(POLG):c.2596C>T (p.Arg866Trp)	POLG (R866W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 138747	NM_002693.3(POLG):c.2481-7C>T	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy +4 more	GConflicting classifications of pathogenicity
Select item 206524	NM_002693.3(POLG):c.2467C>T (p.Arg823Cys)	POLG (R823C)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +2 more	GUncertain significance
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 574386	NM_002693.3(POLG):c.2354G>A (p.Gly785Asp)	POLG (G785D)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +2 more	GUncertain significance
Select item 129991	NM_002693.3(POLG):c.2254C>T (p.Leu752=)	POLG	Single nucleotide variant (synonymous variant)	Mitochondrial disease	GBenign FDA Recognized database
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 845486	NM_002693.3(POLG):c.2201A>G (p.His734Arg)	POLG (H734R)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GUncertain significance
Select item 458701	NM_002693.3(POLG):c.2134G>A (p.Val712Met)	POLG (V712M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 206510	NM_002693.3(POLG):c.2101G>A (p.Ala701Thr)	POLG (A701T)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GUncertain significance
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 2887182	NM_002693.3(POLG):c.2034G>T (p.Glu678Asp)	POLG (E678D)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GUncertain significance
Select item 21310	NM_002693.3(POLG):c.1984G>A (p.Glu662Lys)	POLG (E662K)	Single nucleotide variant (missense variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 206503	NM_002693.3(POLG):c.1904C>T (p.Pro635Leu)	POLG (P635L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 424559	NM_002693.3(POLG):c.1886A>C (p.Asp629Ala)	POLG (D629A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 436359	NM_002693.3(POLG):c.1880G>A (p.Arg627Gln)	POLG (R627Q)	Single nucleotide variant (missense variant)	POLG-related disorder +2 more	GPathogenic/Likely pathogenic
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 1163578	NM_002693.3(POLG):c.1816dup (p.Thr606fs)	POLG (T606fs)	Duplication (frameshift variant)	not provided +2 more	GLikely pathogenic
Select item 576551	NM_002693.3(POLG):c.1790G>A (p.Arg597Gln)	POLG (R597Q)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +2 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 619318	NM_002693.3(POLG):c.1639G>T (p.Ala547Ser)	POLG (A547S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GUncertain significance
Select item 594499	NM_002693.3(POLG):c.1639G>A (p.Ala547Thr)	POLG (A547T)	Single nucleotide variant (missense variant)	not provided +1 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 206634	NM_002693.3(POLG):c.1612_1613delinsTT (p.Glu538Leu)	POLG (E538L)	Indel (missense variant)	Progressive sclerosing poliodystrophy +2 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 426869	NM_002693.3(POLG):c.1543A>G (p.Ile515Val)	POLG (I515V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 206597	NM_002693.3(POLG):c.1493A>C (p.Lys498Thr)	POLG (K498T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 138772	NM_002693.3(POLG):c.1066C>T (p.Leu356=)	POLG	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 21320	NM_002693.3(POLG):c.970C>T (p.Pro324Ser)	POLG (P324S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 1982752	NM_002693.3(POLG):c.929G>T (p.Ser310Ile)	POLG (S310I)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GUncertain significance
Select item 872786	NM_002693.3(POLG):c.868C>T (p.Arg290Cys)	POLG (R290C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 206496	NM_002693.3(POLG):c.856-17CTC[4]	POLG	Microsatellite (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 206584	NM_002693.3(POLG):c.855G>C (p.Gln285His)	POLG (Q285H)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GUncertain significance
Select item 206583	NM_002693.3(POLG):c.830A>T (p.His277Leu)	POLG (H277L)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +7 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 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 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 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

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