"Ambry Genetics"[submitter] AND "POLG"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21316	NM_002693.3(POLG):c.3708G>T (p.Gln1236His)	FANCI, POLG +1 more (Q1236H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +12 more	GBenign/Likely benign
Select item 2482465	NM_002693.3(POLG):c.3705C>G (p.Ser1235Arg)	FANCI, POLG +1 more (S1235R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 138767	NM_002693.3(POLG):c.3700C>A (p.Arg1234=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2293882	NM_002693.3(POLG):c.3637C>G (p.Pro1213Ala)	POLG, POLGARF (P1213A)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GUncertain significance
Select item 596562	NM_002693.3(POLG):c.3630C>T (p.Tyr1210=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1034711	NM_002693.3(POLG):c.3612T>A (p.Thr1204=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
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 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 206570	NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp)	POLG, POLGARF (R1187W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 426100	NM_002693.3(POLG):c.3550G>A (p.Asp1184Asn)	POLGARF, POLG (D1184N)	Single nucleotide variant (missense variant)	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 430382	NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu)	POLG, POLGARF (S1176L)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +3 more	GConflicting classifications of pathogenicity
Select item 206477	NM_002693.3(POLG):c.3450C>T (p.Ala1150=)	POLGARF, POLG	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 458715	NM_002693.3(POLG):c.3442C>T (p.Arg1148Cys)	POLG, POLGARF (R1148C)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +7 more	GUncertain significance
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 1731195	NM_002693.3(POLG):c.3414C>T (p.Arg1138=)	POLG, POLGARF	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 937766	NM_002693.3(POLG):c.3408G>C (p.Glu1136Asp)	POLG, POLGARF (E1136D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 206475	NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe)	POLG, POLGARF (Y1108F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GUncertain significance
Select item 522129	NM_002693.3(POLG):c.3317T>C (p.Val1106Ala)	POLG, POLGARF (V1106A)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GConflicting classifications of pathogenicity
Select item 1151650	NM_002693.3(POLG):c.3303A>C (p.Val1101=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 206557	NM_002693.3(POLG):c.3287G>A (p.Arg1096His)	POLGARF, POLG (R1096H)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +3 more	GConflicting classifications of pathogenicity
Select item 391063	NM_002693.3(POLG):c.3282C>G (p.Thr1094=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 516497	NM_002693.3(POLG):c.3274-4C>T	POLGARF, POLG	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1729567	NM_002693.3(POLG):c.3264C>G (p.Val1088=)	POLG, POLGARF	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 419974	NM_002693.3(POLG):c.3240_3242dup (p.Arg1081dup)	POLG, POLGARF	Duplication (inframe_insertion)	Progressive sclerosing poliodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 458712	NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln)	POLG, POLGARF (R1081Q)	Single nucleotide variant (missense variant)	not provided +13 more	GConflicting classifications of pathogenicity
Select item 138757	NM_002693.3(POLG):c.3216C>G (p.Thr1072=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 206552	NM_002693.3(POLG):c.3215C>G (p.Thr1072Ser)	POLG, POLGARF (T1072S)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 388649	NM_002693.3(POLG):c.3204C>G (p.Asp1068Glu)	POLG, POLGARF (D1068E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GUncertain significance
Select item 138756	NM_002693.3(POLG):c.3198G>A (p.Thr1066=)	POLGARF, POLG	Single nucleotide variant (synonymous variant)	POLG-Related Spectrum Disorders +5 more	GConflicting classifications of pathogenicity
Select item 1517311	NM_002693.3(POLG):c.3175A>G (p.Asn1059Asp)	POLG, POLGARF (N1059D)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GUncertain significance
Select item 566044	NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg)	POLG, POLGARF (G1051R)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1728098	NM_002693.3(POLG):c.3141G>C (p.Arg1047=)	POLG, POLGARF	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 206548	NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)	POLG, POLGARF (R1047W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 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)	Mitochondrial DNA depletion syndrome 4b +11 more	GConflicting classifications of pathogenicity
Select item 587863	NM_002693.3(POLG):c.3104+3A>T	POLG, POLGARF	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 1727670	NM_002693.3(POLG):c.3104+1G>T	POLG, POLGARF	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 429545	NM_002693.3(POLG):c.3101G>A (p.Arg1034Lys)	POLG, POLGARF (R1034K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 588422	NM_002693.3(POLG):c.3095C>G (p.Thr1032Ser)	POLG, POLGARF (T1032S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1727307	NM_002693.3(POLG):c.3075G>C (p.Leu1025=)	POLG, POLGARF	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 279948	NM_002693.3(POLG):c.3014_3057del (p.Val1005fs)	POLGARF, POLG (V1005fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1511290	NM_002693.3(POLG):c.3041G>A (p.Arg1014Lys)	POLG, POLGARF (R1014K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 619429	NM_002693.3(POLG):c.2998G>A (p.Glu1000Lys)	POLG, POLGARF (E1000K)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +2 more	GUncertain significance
Select item 287775	NM_002693.3(POLG):c.2994G>C (p.Ser998=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +4 more	GBenign/Likely benign
Select item 857083	NM_002693.3(POLG):c.2993C>T (p.Ser998Leu)	POLGARF, POLG (S998L)	Single nucleotide variant (missense variant)	POLG-related disorder +2 more	GUncertain significance
Select item 206544	NM_002693.3(POLG):c.2987G>A (p.Arg996Gln)	POLG, POLGARF (R996Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 689545	NM_002693.3(POLG):c.2982G>C (p.Trp994Cys)	POLG, POLGARF (W994C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 405570	NM_002693.3(POLG):c.2977C>T (p.Arg993Cys)	POLGARF, POLG (R993C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GUncertain significance
Select item 129993	NM_002693.3(POLG):c.2958C>T (p.Tyr986=)	FANCI, POLG +1 more	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 1798074	NM_002693.3(POLG):c.2952G>C (p.Gln984His)	POLG, POLGARF (Q984H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 206537	NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)	POLG, POLGARF (R964C)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +8 more	GConflicting classifications of pathogenicity
Select item 138753	NM_002693.3(POLG):c.2853C>T (p.Tyr951=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	POLG-Related Spectrum Disorders +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)	Inborn genetic diseases +3 more	GUncertain significance
Select item 194733	NM_002693.3(POLG):c.2724C>T (p.Ala908=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	POLG-Related Spectrum Disorders +4 more	GConflicting classifications of pathogenicity
Select item 593514	NM_002693.3(POLG):c.2704C>G (p.Leu902Val)	POLG, POLGARF (L902V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GUncertain significance
Select item 448104	NM_002693.3(POLG):c.2665G>A (p.Ala889Thr)	POLG, POLGARF (A889T)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1794266	NM_002693.3(POLG):c.2647G>A (p.Gly883Ser)	POLG, POLGARF (G883S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 502515	NM_002693.3(POLG):c.2596C>T (p.Arg866Trp)	POLG, POLGARF (R866W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 619421	NM_002693.3(POLG):c.2573C>T (p.Thr858Ile)	POLG, POLGARF (T858I)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 206528	NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)	POLG, POLGARF (R852C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GPathogenic
Select item 13502	NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	POLG, POLGARF (G848S)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +11 more	GPathogenic
Select item 138748	NM_002693.3(POLG):c.2541C>T (p.Ala847=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	POLG-Related Spectrum Disorders +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)	POLG-related disorder +6 more	GBenign/Likely benign
Select item 1792017	NM_002693.3(POLG):c.2488G>A (p.Asp830Asn)	POLG, POLGARF (D830N)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1448080	NM_002693.3(POLG):c.2481-4C>G	POLG, POLGARF	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 206524	NM_002693.3(POLG):c.2467C>T (p.Arg823Cys)	POLG, POLGARF (R823C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1791385	NM_002693.3(POLG):c.2445G>C (p.Trp815Cys)	POLG, POLGARF (W815C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2491825	NM_002693.3(POLG):c.2440G>C (p.Val814Leu)	POLG, POLGARF (V814L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1309963	NM_002693.3(POLG):c.2377G>A (p.Glu793Lys)	POLG, POLGARF (E793K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 194376	NM_002693.3(POLG):c.2369G>A (p.Arg790His)	POLG, POLGARF (R790H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GUncertain significance
Select item 1788837	NM_002693.3(POLG):c.2274T>C (p.Asn758=)	POLGARF, POLG	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 129991	NM_002693.3(POLG):c.2254C>T (p.Leu752=)	POLG, POLGARF	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)	POLG-Related Spectrum Disorders +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 458702	NM_002693.3(POLG):c.2221G>A (p.Asp741Asn)	POLG, POLGARF (D741N)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 258790	NM_002693.3(POLG):c.2220C>T (p.Asn740=)	POLGARF, POLG	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 206519	NM_002693.3(POLG):c.2218A>G (p.Asn740Asp)	POLGARF, POLG (N740D)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +7 more	GUncertain significance
Select item 13513	NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)	POLG, POLGARF (G737R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	POLG-Related Spectrum Disorders +10 more	GConflicting classifications of pathogenicity
Select item 589968	NM_002693.3(POLG):c.2197C>T (p.His733Tyr)	POLG, POLGARF (H733Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 961408	NM_002693.3(POLG):c.2167G>C (p.Gly723Arg)	POLG, POLGARF (G723R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 206513	NM_002693.3(POLG):c.2165G>T (p.Arg722Leu)	POLG, POLGARF (R722L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 378413	NM_002693.3(POLG):c.2149C>T (p.Leu717=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 458701	NM_002693.3(POLG):c.2134G>A (p.Val712Met)	POLG, POLGARF (V712M)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +2 more	GUncertain significance
Select item 138745	NM_002693.3(POLG):c.2109C>T (p.Ala703=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	POLG-Related Spectrum Disorders +5 more	GConflicting classifications of pathogenicity
Select item 129990	NM_002693.3(POLG):c.2109C>A (p.Ala703=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +8 more	GBenign/Likely benign
Select item 1983654	NM_002693.3(POLG):c.2084A>G (p.Asp695Gly)	POLG, POLGARF (D695G)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 579888	NM_002693.3(POLG):c.2069C>T (p.Thr690Met)	POLG, POLGARF (T690M)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 206507	NM_002693.3(POLG):c.2051A>G (p.Asn684Ser)	POLG, POLGARF (N684S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 138743	NM_002693.3(POLG):c.2028G>A (p.Ala676=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	POLG-Related Spectrum Disorders +5 more	GConflicting classifications of pathogenicity
Select item 451086	NM_002693.3(POLG):c.2027C>T (p.Ala676Val)	POLG, POLGARF (A676V)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +7 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)	POLG-Related Spectrum Disorders +9 more	GConflicting classifications of pathogenicity
Select item 497733	NM_002693.3(POLG):c.1991G>A (p.Gly664Glu)	POLG, POLGARF (G664E)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +2 more	GUncertain significance
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 1783166	NM_002693.3(POLG):c.1949+218_1949+415del	POLG, POLGARF	Deletion (intron variant)	Inborn genetic diseases	GBenign
Select item 1783165	NM_002693.3(POLG):c.1949+195_1949+396del	POLG, POLGARF	Deletion (intron variant)	Inborn genetic diseases	GBenign
Select item 1549453	NM_002693.3(POLG):c.1926A>T (p.Ser642=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 138780	NM_002693.3(POLG):c.1890C>T (p.Asn630=)	POLG, POLGARF	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1367175	NM_002693.3(POLG):c.1870G>A (p.Val624Met)	POLG, POLGARF (V624M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 282075	NM_002693.3(POLG):c.1850G>A (p.Arg617His)	POLG, POLGARF (R617H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 193643	NM_002693.3(POLG):c.1837C>T (p.His613Tyr)	POLG, POLGARF (H613Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GConflicting classifications of pathogenicity

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