ClinVar for OMIM (Select 258450) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3578010	NM_001430120.1(POLGARF):c.100dup (p.Ala34fs)	POLG, POLGARF (A34fs +1 more)	Duplication (frameshift variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +4 more	GLikely pathogenic
Select item 3578008	NM_002693.3(POLG):c.814del (p.Ser272fs)	POLG (S272fs)	Deletion (frameshift variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +4 more	GLikely pathogenic
Select item 3578007	NM_002693.3(POLG):c.880_881del (p.Thr294fs)	POLG (T294fs)	Microsatellite (frameshift variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +4 more	GLikely pathogenic
Select item 3578005	NM_002693.3(POLG):c.1023+1G>C	POLG	Single nucleotide variant (splice donor variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +4 more	GLikely pathogenic
Select item 3578004	NM_002693.3(POLG):c.1157G>C (p.Arg386Pro)	POLG (R386P)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +4 more	GLikely pathogenic
Select item 3578003	NM_002693.3(POLG):c.1170+1G>C	POLG	Single nucleotide variant (splice donor variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +4 more	GLikely pathogenic
Select item 3578002	NM_002693.3(POLG):c.1552del (p.Ala518fs)	POLG (A518fs)	Deletion (frameshift variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +4 more	GLikely pathogenic
Select item 3578001	NM_002693.3(POLG):c.1663del (p.Thr555fs)	POLG (T555fs)	Deletion (frameshift variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +4 more	GLikely pathogenic
Select item 3578000	NM_002693.3(POLG):c.1949+1G>C	POLG	Single nucleotide variant (splice donor variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +4 more	GLikely pathogenic
Select item 3577998	NM_002693.3(POLG):c.2185C>T (p.Gln729Ter)	POLG (Q729*)	Single nucleotide variant (nonsense)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +4 more	GLikely pathogenic
Select item 3577997	NM_002693.3(POLG):c.2209G>T (p.Gly737Ter)	POLG (G737*)	Single nucleotide variant (nonsense)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +4 more	GLikely pathogenic
Select item 3577995	NM_002693.3(POLG):c.2479_2480+8del	POLG	Deletion (splice donor variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +4 more	GLikely pathogenic
Select item 3577993	NM_002693.3(POLG):c.3104+3A>C	POLG	Single nucleotide variant (intron variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +4 more	GLikely pathogenic
Select item 3577992	NM_002693.3(POLG):c.3374T>A (p.Ile1125Lys)	POLG (I1125K)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +4 more	GUncertain significance
Select item 3577989	NM_002693.3(POLG):c.3514_3517dup (p.Leu1173Ter)	POLG (L1173*)	Duplication (nonsense)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +4 more	GLikely pathogenic
Select item 3377489	NM_002693.3(POLG):c.1787T>G (p.Met596Arg)	POLG (M596R)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	GUncertain significance
Select item 3339756	NM_002693.3(POLG):c.2902C>G (p.Gln968Glu)	POLG (Q968E)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 4b +5 more	GConflicting classifications of pathogenicity
Select item 3336586	NM_002693.3(POLG):c.2768G>A (p.Gly923Asp)	POLG (G923D)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome +5 more	GLikely pathogenic
Select item 3240171	NM_002693.3(POLG):c.130C>T (p.Gln44Ter)	POLG, POLGARF (Q44*)	Single nucleotide variant (nonsense)	Progressive sclerosing poliodystrophy +4 more	GLikely pathogenic
Select item 3068474	NM_002693.3(POLG):c.2386A>C (p.Lys796Gln)	POLG, POLGARF (K796Q)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	GUncertain significance
Select item 2891391	NM_002693.3(POLG):c.967C>T (p.Gln323Ter)	POLG (Q323*)	Single nucleotide variant (nonsense)	Progressive sclerosing poliodystrophy +4 more	GPathogenic/Likely pathogenic
Select item 2864411	NM_002693.3(POLG):c.590_596del (p.Phe197fs)	POLG, POLGARF (F197fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy +4 more	GPathogenic/Likely pathogenic
Select item 2860133	NM_002693.3(POLG):c.2480+1G>T	POLG	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy +4 more	GPathogenic/Likely pathogenic
Select item 2677961	NM_002693.3(POLG):c.1356T>G (p.Tyr452Ter)	POLG (Y452*)	Single nucleotide variant (nonsense)	Progressive sclerosing poliodystrophy +4 more	GPathogenic
Select item 2677952	NM_002693.3(POLG):c.3626_3629dup (p.Tyr1210Ter)	POLG (Y1210*)	Duplication (nonsense)	Progressive sclerosing poliodystrophy +4 more	GPathogenic/Likely pathogenic
Select item 2677950	NM_002693.3(POLG):c.3229dup (p.Cys1077fs)	POLG (C1077fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy +4 more	GLikely pathogenic
Select item 1961036	NM_002693.3(POLG):c.178C>T (p.Gln60Ter)	POLG, POLGARF (Q60*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 1802265	NM_002693.3(POLG):c.1403A>T (p.Asn468Ile)	POLG (N468I)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 4b +3 more	GUncertain significance
Select item 1698500	NM_002693.3(POLG):c.[1760C>T;752C>T]	POLG (T251I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1564682	NM_002693.3(POLG):c.1023+17G>A	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy +5 more	GLikely benign
Select item 1458421	NM_002693.3(POLG):c.1575_1578del (p.Met525fs)	POLG (M525fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy +4 more	GPathogenic/Likely pathogenic
Select item 1455434	NM_002693.3(POLG):c.1457G>A (p.Trp486Ter)	POLG (W486*)	Single nucleotide variant (nonsense)	Progressive sclerosing poliodystrophy +4 more	GPathogenic
Select item 1453904	NM_002693.3(POLG):c.3482+2T>C	POLG	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy +4 more	GPathogenic/Likely pathogenic
Select item 1444207	NM_002693.3(POLG):c.1433+5C>T	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 1418532	NM_002693.3(POLG):c.3532G>A (p.Ala1178Thr)	POLG (A1178T)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +5 more	GUncertain significance
Select item 1405547	NM_002693.3(POLG):c.2485C>T (p.Pro829Ser)	POLG (P829S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 1396403	NM_002693.3(POLG):c.2094A>C (p.Glu698Asp)	POLG (E698D)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 1385866	NM_002693.3(POLG):c.3273+17G>A	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy +5 more	GConflicting classifications of pathogenicity
Select item 1361592	NM_002693.3(POLG):c.1907C>G (p.Thr636Arg)	POLG (T636R)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 1354124	NM_002693.3(POLG):c.995C>T (p.Ser332Phe)	POLG (S332F)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 1341586	NM_002693.3(POLG):c.3601del (p.Ser1201fs)	POLG (S1201fs)	Deletion (frameshift variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +5 more	GPathogenic/Likely pathogenic
Select item 1339608	NM_002693.3(POLG):c.660-2A>G	POLG, POLGARF	Single nucleotide variant (splice acceptor variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +5 more	GPathogenic/Likely pathogenic
Select item 1327430	NM_002693.3:c.2734+39_2734+40insAGGT	POLG	Insertion (intron variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +4 more	GBenign
Select item 1315451	NM_002693.3(POLG):c.3227G>A (p.Gly1076Asp)	POLG (G1076D)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GUncertain significance
Select item 1163576	NM_002693.3(POLG):c.3104+2_3104+5del	POLG	Deletion (splice donor variant)	Progressive sclerosing poliodystrophy +5 more	GLikely pathogenic
Select item 1063541	NM_002693.3(POLG):c.856-3C>T	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy +6 more	GUncertain significance
Select item 1061081	NM_002693.3(POLG):c.200G>C (p.Gly67Ala)	POLG, POLGARF (G67A)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 1050879	NM_002693.3(POLG):c.2257C>T (p.Pro753Ser)	POLG (P753S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 1036787	NM_002693.3(POLG):c.1936G>T (p.Val646Phe)	POLG (V646F)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GUncertain significance
Select item 1033944	NM_002693.3(POLG):c.2566G>A (p.Glu856Lys)	POLG (E856K)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GConflicting classifications of pathogenicity
Select item 1017643	NM_002693.3(POLG):c.2255T>C (p.Leu752Pro)	POLG (L752P)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +6 more	GUncertain significance
Select item 984421	NM_002693.3(POLG):c.67_88del (p.Gly23fs)	POLG, POLGARF (G23fs)	Deletion (frameshift variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 +1 more	GPathogenic/Likely pathogenic
Select item 971975	NM_002693.3(POLG):c.2608G>C (p.Val870Leu)	POLG (V870L)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +5 more	GUncertain significance
Select item 966409	NM_002693.3(POLG):c.402C>G (p.Asn134Lys)	POLG, POLGARF (N134K)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GUncertain significance
Select item 939308	NM_002693.3(POLG):c.1252T>C (p.Cys418Arg)	POLG (C418R)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +5 more	GConflicting classifications of pathogenicity
Select item 888159	NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp)	POLG (G1051W)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +7 more	GConflicting classifications of pathogenicity
Select item 872786	NM_002693.3(POLG):c.868C>T (p.Arg290Cys)	POLG (R290C)	Single nucleotide variant (missense variant)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +8 more	GConflicting classifications of pathogenicity
Select item 861889	NM_002693.3(POLG):c.730C>G (p.Leu244Val)	POLG (L244V)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GConflicting classifications of pathogenicity
Select item 845148	NM_002693.3(POLG):c.2884dup (p.Ala962fs)	POLG (A962fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy +4 more	GPathogenic/Likely pathogenic
Select item 807308	NM_002693.3(POLG):c.331G>C (p.Gly111Arg)	POLG, POLGARF (G111R)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 803122	NM_002693.3(POLG):c.844T>G (p.Tyr282Asp)	POLG (Y282D)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 4b +5 more	GConflicting classifications of pathogenicity
Select item 703069	NM_002693.3(POLG):c.3274-8C>T	POLG	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy +5 more	GLikely benign
Select item 689441	NM_002693.3(POLG):c.3211C>T (p.Arg1071Cys)	POLG (R1071C)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GUncertain significance
Select item 648222	NM_002693.3(POLG):c.869G>A (p.Arg290His)	POLG (R290H)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 625997	NM_002693.3(POLG):c.2466C>G (p.Pro822=)	POLG	Single nucleotide variant (synonymous variant)	Progressive sclerosing poliodystrophy +4 more	GUncertain significance
Select item 619492	NM_002693.3(POLG):c.3105-36A>G	POLG	Single nucleotide variant (intron variant)	not specified +6 more	GBenign
Select item 619447	NM_002693.3(POLG):c.824G>A (p.Arg275Gln)	POLG (R275Q)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 4b +4 more	GConflicting classifications of pathogenicity
Select item 619415	NM_002693.3(POLG):c.2074GAA[1] (p.Glu693del)	POLG (E693del)	Microsatellite (inframe_deletion)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 619412	NM_002693.3(POLG):c.191C>G (p.Ser64Trp)	POLG, POLGARF (S64W)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 4b +4 more	GUncertain significance
Select item 619398	NM_002693.3(POLG):c.2143C>T (p.Gln715Ter)	POLG (Q715*)	Single nucleotide variant (nonsense)	Progressive sclerosing poliodystrophy +5 more	GPathogenic
Select item 619385	NM_002693.3(POLG):c.2071-22T>C	POLG	Single nucleotide variant (intron variant)	not specified +6 more	GBenign
Select item 619311	NM_002693.3(POLG):c.3430_3433dup (p.Asp1145fs)	POLG (D1145fs)	Duplication (frameshift variant)	Mitochondrial DNA depletion syndrome 4b +5 more	GPathogenic/Likely pathogenic
Select item 619308	NM_002693.3(POLG):c.3104+1G>A	POLG	Single nucleotide variant (splice donor variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 619306	NM_002693.3(POLG):c.2674dup (p.Asp892fs)	POLG (D892fs)	Duplication (frameshift variant)	Mitochondrial DNA depletion syndrome 4b +4 more	GPathogenic
Select item 619305	NM_002693.3(POLG):c.1345C>T (p.Gln449Ter)	POLG (Q449*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 4b +4 more	GPathogenic
Select item 597808	NM_002693.3(POLG):c.3643+2T>C	POLG	Single nucleotide variant (splice donor variant)	Mitochondrial disease	GPathogenicFDA Recognized database
Select item 594667	NM_002693.3(POLG):c.3560G>A (p.Arg1187Gln)	POLG (R1187Q)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GUncertain significance
Select item 594491	NM_002693.3(POLG):c.2209G>A (p.Gly737Arg)	POLG (G737R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 4b +5 more	GConflicting classifications of pathogenicity
Select item 593514	NM_002693.3(POLG):c.2704C>G (p.Leu902Val)	POLG (L902V)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 593213	NM_002693.3(POLG):c.739C>G (p.Leu247Val)	POLG (L247V)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +7 more	GUncertain significance
Select item 587863	NM_002693.3(POLG):c.3104+3A>T	POLG	Single nucleotide variant (intron variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +6 more	GPathogenic
Select item 587834	NM_002693.3(POLG):c.431A>G (p.Gln144Arg)	POLG, POLGARF (Q144R)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 579888	NM_002693.3(POLG):c.2069C>T (p.Thr690Met)	POLG (T690M)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 571598	NM_002693.3(POLG):c.1669G>C (p.Glu557Gln)	POLG (E557Q)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GUncertain significance
Select item 566044	NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg)	POLG (G1051R)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GPathogenic/Likely pathogenic
Select item 522129	NM_002693.3(POLG):c.3317T>C (p.Val1106Ala)	POLG (V1106A)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GLikely pathogenic
Select item 502761	NM_002693.3(POLG):c.1420C>A (p.Leu474Ile)	POLG (L474I)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GUncertain significance
Select item 458718	NM_002693.3(POLG):c.3667A>G (p.Ile1223Val)	POLG, FANCI (I1223V)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 458715	NM_002693.3(POLG):c.3442C>T (p.Arg1148Cys)	POLG (R1148C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GUncertain significance
Select item 458698	NM_002693.3(POLG):c.1882C>T (p.Arg628Trp)	POLG (R628W)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1 +5 more	GUncertain significance
Select item 458695	NM_002693.3(POLG):c.1735C>T (p.Arg579Trp)	POLG (R579W)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 458687	NM_002693.3(POLG):c.1276G>A (p.Gly426Ser)	POLG (G426S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 452496	NM_002693.3(POLG):c.729C>A (p.Asp243Glu)	POLG (D243E)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +7 more	GUncertain significance
Select item 451086	NM_002693.3(POLG):c.2027C>T (p.Ala676Val)	POLG (A676V)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 449762	NM_002693.3(POLG):c.2530G>A (p.Val844Met)	POLG (V844M)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1 +6 more	GUncertain significance
Select item 448104	NM_002693.3(POLG):c.2665G>A (p.Ala889Thr)	POLG (A889T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 448102	NM_002693.3(POLG):c.2468G>A (p.Arg823His)	POLG (R823H)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1 +7 more	GUncertain significance
Select item 444352	NM_002693.3(POLG):c.2605C>T (p.Arg869Ter)	POLG (R869*)	Single nucleotide variant (nonsense)	Progressive sclerosing poliodystrophy +5 more	GPathogenic/Likely pathogenic
Select item 436358	NM_002693.3(POLG):c.2869G>C (p.Ala957Pro)	POLG (A957P)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GPathogenic/Likely pathogenic
Select item 436357	NM_002693.3(POLG):c.2606G>A (p.Arg869Gln)	POLG (R869Q)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +4 more	GPathogenic/Likely pathogenic

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