"Illumina Laboratory Services, Illumina"[submitter] AND "POLG"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 317299	NM_001113378.2(FANCI):c.3816+15A>T	FANCI, POLG	Single nucleotide variant (intron variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 257489	NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=)	FANCI, POLG	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group I +4 more	GBenign/Likely benign
Select item 317302	NM_001113378.2(FANCI):c.3925-84_3925-81dup	FANCI, POLG	Duplication (intron variant)	Fanconi anemia +1 more	GUncertain significance
Select item 885823	NM_001113378.2(FANCI):c.3925-80G>A	FANCI, POLG	Single nucleotide variant (intron variant)	POLG-Related Spectrum Disorders	GUncertain significance
Select item 885824	NM_002693.3(POLG):c.*420A>G	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 317304	NM_002693.3(POLG):c.*122G>A	POLG, POLGARF +1 more	Single nucleotide variant (3 prime UTR variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 886829	NM_002693.3(POLG):c.*100G>A	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 317305	NM_002693.3(POLG):c.*63A>G	POLG, POLGARF +1 more	Single nucleotide variant (3 prime UTR variant)	POLG-Related Spectrum Disorders +1 more	GUncertain significance
Select item 317306	NM_002693.3(POLG):c.*49dup	FANCI, POLG +1 more	Duplication (3 prime UTR variant)	POLG-Related Spectrum Disorders +2 more	GBenign/Likely benign
Select item 317308	NM_002693.3(POLG):c.*49G>A	POLGARF, FANCI +1 more	Single nucleotide variant (3 prime UTR variant)	Progressive sclerosing poliodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 317309	NM_002693.3(POLG):c.*44G>C	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant)	POLG-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 317310	NM_002693.3(POLG):c.*30G>A	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 21316	NM_002693.3(POLG):c.3708G>T (p.Gln1236His)	FANCI, POLG +1 more (Q1236H)	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group I +12 more	GBenign/Likely benign
Select item 317311	NM_002693.3(POLG):c.3700C>G (p.Arg1234Gly)	FANCI, POLG +1 more (R1234G)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +3 more	GUncertain significance
Select item 206575	NM_002693.3(POLG):c.3650C>T (p.Ala1217Val)	FANCI, POLG +1 more (A1217V)	Single nucleotide variant (missense variant +1 more)	POLG-Related Spectrum Disorders +9 more	GUncertain significance
Select item 129998	NM_002693.3(POLG):c.3644-9A>G	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 317312	NM_002693.3(POLG):c.3644-16T>C	POLG, FANCI +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive sclerosing poliodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 317313	NM_002693.3(POLG):c.3644-72C>A	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	POLG-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 317314	NM_002693.3(POLG):c.3644-99C>T	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	POLG-Related Spectrum Disorders +3 more	GConflicting classifications of pathogenicity
Select item 317315	NM_002693.3(POLG):c.3644-116T>C	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	POLG-Related Spectrum Disorders +2 more	GUncertain significance
Select item 317316	NM_002693.3(POLG):c.3644-178_3644-176dup	FANCI, POLG +1 more	Duplication (3 prime UTR variant +1 more)	POLG-Related Spectrum Disorders +1 more	GUncertain significance
Select item 317318	NM_002693.3(POLG):c.3644-184T>C	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	POLG-Related Spectrum Disorders +1 more	GUncertain significance
Select item 317319	NM_001113378.2(FANCI):c.*614T>G	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group I	GUncertain significance
Select item 317320	NM_002693.3(POLG):c.3643+258A>G	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	POLG-Related Spectrum Disorders +3 more	GBenign/Likely benign
Select item 317321	NM_002693.3(POLG):c.3643+257T>G	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	POLG-Related Spectrum Disorders +3 more	GBenign
Select item 885887	NM_001113378.2(FANCI):c.*662C>G	FANCI, POLG +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group I	GUncertain significance
Select item 138766	NM_002693.3(POLG):c.3597C>A (p.Thr1199=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 885888	NM_002693.3(POLG):c.3561G>T (p.Arg1187=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	POLG-Related Spectrum Disorders	GUncertain significance
Select item 129997	NM_002693.3(POLG):c.3561G>C (p.Arg1187=)	POLGARF, POLG	Single nucleotide variant (synonymous variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 317322	NM_002693.3(POLG):c.3549C>T (p.Val1183=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 138760	NM_002693.3(POLG):c.3482+6C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	POLG-Related Spectrum Disorders +8 more	GConflicting classifications of pathogenicity
Select item 21312	NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)	FANCI, POLG +1 more (E1143G)	Single nucleotide variant (missense variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 21311	NM_002693.3(POLG):c.3424C>T (p.Arg1142Trp)	POLG, POLGARF (R1142W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 317323	NM_002693.3(POLG):c.3334A>T (p.Met1112Leu)	POLG, POLGARF (M1112L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 317324	NM_002693.3(POLG):c.3273+6T>A	POLGARF, POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 206553	NM_002693.3(POLG):c.3239G>C (p.Ser1080Thr)	POLG, POLGARF (S1080T)	Single nucleotide variant (missense variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 619336	NM_002693.3(POLG):c.3229T>G (p.Cys1077Gly)	POLG, POLGARF (C1077G)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 138756	NM_002693.3(POLG):c.3198G>A (p.Thr1066=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +5 more	GConflicting classifications of pathogenicity
Select item 317325	NM_002693.3(POLG):c.3197C>T (p.Thr1066Met)	POLG, POLGARF (T1066M)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +1 more	GUncertain significance
Select item 195487	NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser)	POLG, POLGARF (N1059S)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 888159	NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp)	POLG, POLGARF (G1051W)	Single nucleotide variant (missense variant)	not provided +7 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)	Hereditary spastic paraplegia +11 more	GConflicting classifications of pathogenicity
Select item 888160	NM_002693.3(POLG):c.3120G>C (p.Lys1040Asn)	POLG, POLGARF (K1040N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 138754	NM_002693.3(POLG):c.3105-11T>C	FANCI, POLG +1 more	Single nucleotide variant (intron variant)	POLG-Related Spectrum Disorders +7 more	GBenign/Likely benign
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 206546	NM_002693.3(POLG):c.3076C>T (p.Arg1026Cys)	POLGARF, POLG (R1026C)	Single nucleotide variant (missense variant)	POLG-related disorder +8 more	GUncertain significance
Select item 885041	NM_002693.3(POLG):c.2988G>A (p.Arg996=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	POLG-Related Spectrum Disorders +1 more	GConflicting classifications of pathogenicity
Select item 129993	NM_002693.3(POLG):c.2958C>T (p.Tyr986=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +6 more	GBenign/Likely benign
Select item 528381	NM_002693.3(POLG):c.2939A>C (p.Glu980Ala)	POLGARF, POLG (E980A)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +2 more	GUncertain significance
Select item 138753	NM_002693.3(POLG):c.2853C>T (p.Tyr951=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +5 more	GConflicting classifications of pathogenicity
Select item 206535	NM_002693.3(POLG):c.2830G>A (p.Glu944Lys)	POLG, POLGARF (E944K)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +3 more	GUncertain significance
Select item 279961	NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)	POLGARF, POLG (T914P)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 138752	NM_002693.3(POLG):c.2735-7C>G	POLG, POLGARF	Single nucleotide variant (intron variant)	POLG-Related Spectrum Disorders +3 more	GConflicting classifications of pathogenicity
Select item 194733	NM_002693.3(POLG):c.2724C>T (p.Ala908=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 206611	NM_002693.3(POLG):c.2642C>T (p.Pro881Leu)	POLG, POLGARF (P881L)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +2 more	GUncertain significance
Select item 138750	NM_002693.3(POLG):c.2601T>C (p.Pro867=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +4 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)	not provided +11 more	GPathogenic
Select item 138748	NM_002693.3(POLG):c.2541C>T (p.Ala847=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 13509	NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys)	POLG, POLGARF (Y831C)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GBenign/Likely benign
Select item 317326	NM_002693.3(POLG):c.2481-10A>C	POLG, POLGARF	Single nucleotide variant (intron variant)	POLG-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 574386	NM_002693.3(POLG):c.2354G>A (p.Gly785Asp)	POLG, POLGARF (G785D)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +2 more	GUncertain significance
Select item 586355	NM_002693.3(POLG):c.2287G>C (p.Gly763Arg)	POLGARF, POLG (G763R)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 317327	NM_002693.3(POLG):c.2279G>A (p.Cys760Tyr)	POLG, POLGARF (C760Y)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders	GUncertain significance
Select item 317328	NM_002693.3(POLG):c.2266-11G>C	POLG, POLGARF	Single nucleotide variant (intron variant)	POLG-Related Spectrum Disorders +1 more	GConflicting classifications of pathogenicity
Select item 206517	NM_002693.3(POLG):c.2265+1G>C	POLG, POLGARF	Single nucleotide variant (splice donor variant)	POLG-Related Spectrum Disorders	GUncertain significance
Select item 1017643	NM_002693.3(POLG):c.2255T>C (p.Leu752Pro)	POLG, POLGARF (L752P)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GUncertain significance
Select item 129991	NM_002693.3(POLG):c.2254C>T (p.Leu752=)	POLGARF, POLG	Single nucleotide variant (synonymous variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 206520	NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)	POLG, POLGARF (F749S)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
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 206519	NM_002693.3(POLG):c.2218A>G (p.Asn740Asp)	POLG, POLGARF (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 206516	NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)	POLG, POLGARF (N736S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +10 more	GConflicting classifications of pathogenicity
Select item 886954	NM_002693.3(POLG):c.2159C>G (p.Thr720Ser)	POLG, POLGARF (T720S)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders	GUncertain significance
Select item 317329	NM_002693.3(POLG):c.2157+15G>A	POLG, POLGARF	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 138746	NM_002693.3(POLG):c.2157+11C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 138745	NM_002693.3(POLG):c.2109C>T (p.Ala703=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	POLG-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 129990	NM_002693.3(POLG):c.2109C>A (p.Ala703=)	POLGARF, POLG	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +8 more	GBenign/Likely benign
Select item 138744	NM_002693.3(POLG):c.2071-14T>G	POLG, POLGARF	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 888219	NM_002693.3(POLG):c.2040G>A (p.Leu680=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 138743	NM_002693.3(POLG):c.2028G>A (p.Ala676=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 206462	NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)	POLG, POLGARF (G674D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GConflicting classifications of pathogenicity
Select item 21310	NM_002693.3(POLG):c.1984G>A (p.Glu662Lys)	POLG, POLGARF (E662K)	Single nucleotide variant (missense variant)	Mitochondrial disease	GBenign FDA Recognized database
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 317330	NM_002693.3(POLG):c.1905G>A (p.Pro635=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 317331	NM_002693.3(POLG):c.1902G>T (p.Leu634=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	POLG-Related Spectrum Disorders	GUncertain significance
Select item 206605	NM_002693.3(POLG):c.1898A>C (p.Lys633Thr)	POLG, POLGARF (K633T)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +4 more	GConflicting classifications of pathogenicity
Select item 317332	NM_002693.3(POLG):c.1887C>T (p.Asp629=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 424559	NM_002693.3(POLG):c.1886A>C (p.Asp629Ala)	POLG, POLGARF (D629A)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +2 more	GUncertain significance
Select item 13505	NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	POLG, POLGARF (P587L)	Single nucleotide variant (missense variant)	not specified +14 more	GConflicting classifications of pathogenicity
Select item 138779	NM_002693.3(POLG):c.1743C>T (p.Asp581=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +5 more	GConflicting classifications of pathogenicity
Select item 138777	NM_002693.3(POLG):c.1712+10G>A	POLG, POLGARF	Single nucleotide variant (intron variant)	POLG-Related Spectrum Disorders +2 more	GBenign/Likely benign
Select item 381078	NM_002693.3(POLG):c.1629C>T (p.Val543=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 593634	NM_002693.3(POLG):c.1626T>C (p.Asp542=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	POLG-Related Spectrum Disorders +3 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 138776	NM_002693.3(POLG):c.1585+11T>C	POLGARF, POLG	Single nucleotide variant (intron variant)	POLG-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 65665	NM_002693.3(POLG):c.1550G>T (p.Gly517Val)	POLG, POLGARF (G517V)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +11 more	GConflicting classifications of pathogenicity
Select item 405575	NM_002693.3(POLG):c.1498G>A (p.Ala500Thr)	POLGARF, POLG (A500T)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +2 more	GUncertain significance
Select item 886020	NM_002693.3(POLG):c.1439A>G (p.Lys480Arg)	POLG, POLGARF (K480R)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GUncertain significance
Select item 206596	NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)	POLG, POLGARF (N468D)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 +12 more	GConflicting classifications of pathogenicity

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