ClinVar for MedGen (Select 1631838) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065101	NM_001953.5(TYMP):c.356G>A (p.Gly119Glu)	TYMP (G119E)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1	GUncertain significance
Select item 3064705	NM_001953.5(TYMP):c.833G>A (p.Gly278Asp)	TYMP (G278D)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1	GUncertain significance
Select item 2679403	NM_001953.5(TYMP):c.417+2T>G	TYMP	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 2679402	NM_001953.5(TYMP):c.207_214+6del	TYMP	Deletion (splice donor variant)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 2679401	NM_001953.5(TYMP):c.418-1G>A	TYMP	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 2679400	NM_001953.5(TYMP):c.214+1G>C	TYMP	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 2679399	NM_001953.5(TYMP):c.536_539dup (p.Cys182fs)	TYMP (C182fs)	Duplication (frameshift variant)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 2679398	NM_001953.5(TYMP):c.535C>T (p.Gln179Ter)	TYMP (Q179*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 2679397	NM_001953.5(TYMP):c.532_548dup (p.Cys183fs)	TYMP (C183fs)	Duplication (frameshift variant)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 2679396	NM_001953.5(TYMP):c.1085C>A (p.Ser362Ter)	LOC130067862, SCO2 +1 more (S362*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 2679395	NM_001953.5(TYMP):c.298C>T (p.Gln100Ter)	TYMP (Q100*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 2679394	NM_001953.5(TYMP):c.928+1dup	LOC130067862, TYMP	Duplication (splice donor variant)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 2138462	NM_001953.5(TYMP):c.1040T>C (p.Leu347Pro)	LOC130067862, SCO2 +1 more (L347P)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1805268	NM_001953.5(TYMP):c.1444C>T (p.Gln482Ter)	SCO2, TYMP (Q482* +1 more)	Single nucleotide variant (nonsense +1 more)	Mitochondrial DNA depletion syndrome 1	GUncertain significance
Select item 1804073	NM_001953.5(TYMP):c.323G>A (p.Trp108Ter)	TYMP (W108*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1802275	NM_001953.5(TYMP):c.86dup (p.Ser30fs)	TYMP (S30fs)	Duplication (frameshift variant)	Mitochondrial DNA depletion syndrome 1	GPathogenic
Select item 1709540	NM_001953.5(TYMP):c.752T>C (p.Leu251Pro)	TYMP (L251P)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1	GUncertain significance
Select item 1705718	NM_001953.5(TYMP):c.1187C>T (p.Pro396Leu)	LOC130067862, SCO2 +1 more (P396L +1 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial DNA depletion syndrome 1	GUncertain significance
Select item 1704528	NM_001953.5(TYMP):c.829dup (p.Leu277fs)	TYMP (L277fs)	Duplication (frameshift variant)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 1699086	NM_001953.5(TYMP):c.695T>C (p.Val232Ala)	TYMP (V232A)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1	GUncertain significance
Select item 1699051	NM_001953.5(TYMP):c.1109A>T (p.Gln370Leu)	LOC130067862, SCO2 +1 more (Q370L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 1	GUncertain significance
Select item 1698500	NM_002693.3(POLG):c.[1760C>T;752C>T]	POLG, POLGARF (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, POLGARF	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 1 +5 more	GLikely benign
Select item 1509692	NM_001953.5(TYMP):c.214+1G>T	TYMP	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome 1 +1 more	GLikely pathogenic
Select item 1456105	NM_001953.5(TYMP):c.235C>T (p.Arg79Ter)	TYMP, LOC130067864 (R79*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1444207	NM_002693.3(POLG):c.1433+5C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 1442892	NM_001953.5(TYMP):c.178G>A (p.Ala60Thr)	TYMP (A60T)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1 +1 more	GUncertain significance
Select item 1418532	NM_002693.3(POLG):c.3532G>A (p.Ala1178Thr)	POLG, POLGARF (A1178T)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 1405547	NM_002693.3(POLG):c.2485C>T (p.Pro829Ser)	POLG, POLGARF (P829S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 1400246	NM_001953.5(TYMP):c.736G>A (p.Glu246Lys)	TYMP (E246K)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1 +1 more	GUncertain significance
Select item 1396403	NM_002693.3(POLG):c.2094A>C (p.Glu698Asp)	POLG, POLGARF (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, POLGARF	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, POLGARF (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, POLGARF (S332F)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 1332698	NM_001953.5(TYMP):c.1198_1203del (p.Val400_Leu401del)	LOC130067862, SCO2 +1 more	Deletion (inframe_deletion +2 more)	Mitochondrial DNA depletion syndrome 1	GPathogenic/Likely pathogenic
Select item 1325321	NM_001953.5(TYMP):c.809T>C (p.Leu270Pro)	TYMP (L270P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1323728	NM_001953.5(TYMP):c.729del (p.Asn244fs)	TYMP (N244fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1315451	NM_002693.3(POLG):c.3227G>A (p.Gly1076Asp)	POLG, POLGARF (G1076D)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1310683	NM_001953.5(TYMP):c.862G>A (p.Glu288Lys)	TYMP (E288K)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1 +1 more	GUncertain significance
Select item 1185199	NM_001953.5(TYMP):c.766-53C>T	TYMP	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 1	GBenign
Select item 1074883	NM_001953.5(TYMP):c.20del (p.Pro7fs)	TYMP (P7fs)	Deletion (frameshift variant)	Mitochondrial DNA depletion syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1063541	NM_002693.3(POLG):c.856-3C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 1061081	NM_002693.3(POLG):c.200G>C (p.Gly67Ala)	POLGARF, POLG (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, POLGARF (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, POLGARF (V646F)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GUncertain significance
Select item 1030497	NM_001953.5(TYMP):c.113A>G (p.Glu38Gly)	TYMP (E38G)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1	GUncertain significance
Select item 1029552	NM_001953.5(TYMP):c.1081T>C (p.Cys361Arg)	LOC130067862, SCO2 +1 more (C361R)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 1	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 966409	NM_002693.3(POLG):c.402C>G (p.Asn134Lys)	POLG, POLGARF (N134K)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 4b +6 more	GUncertain significance
Select item 964197	NM_001953.5(TYMP):c.417+1G>A	TYMP	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 960929	NM_001953.5(TYMP):c.520C>T (p.Gln174Ter)	TYMP (Q174*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 903050	NM_001953.5(TYMP):c.952G>C (p.Gly318Arg)	LOC130067862, TYMP (G318R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 902225	NM_001953.5(TYMP):c.-20C>T	LOC130067866, TYMP	Single nucleotide variant (5 prime UTR variant)	Mitochondrial DNA depletion syndrome 1	GUncertain significance
Select item 902224	NM_001953.5(TYMP):c.28G>C (p.Gly10Arg)	TYMP (G10R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1	GUncertain significance
Select item 902223	NM_001953.5(TYMP):c.46G>C (p.Gly16Arg)	TYMP (G16R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 902222	NM_001953.5(TYMP):c.193A>G (p.Ser65Gly)	TYMP (S65G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 900506	NM_001953.5(TYMP):c.1367A>G (p.Gln456Arg)	LOC130067862, SCO2 +1 more (Q461R +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 1	GUncertain significance
Select item 900505	NM_001953.5(TYMP):c.1402G>T (p.Ala468Ser)	LOC130067862, SCO2 +1 more (A473S +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 1	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 870754	NM_001953.5(TYMP):c.945G>A (p.Trp315Ter)	LOC130067862, TYMP (W315*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 861889	NM_002693.3(POLG):c.730C>G (p.Leu244Val)	POLGARF, POLG (L244V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 844485	NM_001953.5(TYMP):c.646+1G>A	TYMP	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 828126	NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter)	LOC130067862, SCO2 +1 more (Q350*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial DNA depletion syndrome 1	GPathogenic
Select item 807308	NM_002693.3(POLG):c.331G>C (p.Gly111Arg)	POLG, POLGARF (G111R)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +6 more	GUncertain significance
Select item 703069	NM_002693.3(POLG):c.3274-8C>T	POLG, POLGARF	Single nucleotide variant (intron variant)	Progressive sclerosing poliodystrophy +5 more	GLikely benign
Select item 694442	NM_001953.5(TYMP):c.1001T>G (p.Leu334Arg)	LOC130067862, SCO2 +1 more (L334R)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 689441	NM_002693.3(POLG):c.3211C>T (p.Arg1071Cys)	POLG, POLGARF (R1071C)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +5 more	GUncertain significance
Select item 671618	NM_001953.5(TYMP):c.516+27A>G	TYMP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 648222	NM_002693.3(POLG):c.869G>A (p.Arg290His)	POLGARF, POLG (R290H)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GUncertain significance
Select item 646061	NM_001953.5(TYMP):c.11del (p.Ala3_Leu4insTer)	TYMP	Deletion (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 632392	NM_001953.5(TYMP):c.929-1G>A	LOC130067862, TYMP	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 619447	NM_002693.3(POLG):c.824G>A (p.Arg275Gln)	POLG, POLGARF (R275Q)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GConflicting classifications of pathogenicity
Select item 619415	NM_002693.3(POLG):c.2074GAA[1] (p.Glu693del)	POLG, POLGARF (E693del)	Microsatellite (inframe_deletion)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 619398	NM_002693.3(POLG):c.2143C>T (p.Gln715Ter)	POLG, POLGARF (Q715*)	Single nucleotide variant (nonsense)	Progressive sclerosing poliodystrophy +5 more	GPathogenic
Select item 619308	NM_002693.3(POLG):c.3104+1G>A	POLG, POLGARF	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy +6 more	GPathogenic/Likely pathogenic
Select item 597808	NM_002693.3(POLG):c.3643+2T>C	POLG, POLGARF	Single nucleotide variant (splice donor variant)	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 594667	NM_002693.3(POLG):c.3560G>A (p.Arg1187Gln)	POLGARF, POLG (R1187Q)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1 +7 more	GUncertain significance
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 593213	NM_002693.3(POLG):c.739C>G (p.Leu247Val)	POLGARF, POLG (L247V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GUncertain significance
Select item 587834	NM_002693.3(POLG):c.431A>G (p.Gln144Arg)	POLG, POLGARF (Q144R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GUncertain significance
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 571598	NM_002693.3(POLG):c.1669G>C (p.Glu557Gln)	POLG, POLGARF (E557Q)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GUncertain significance
Select item 554264	NM_001953.5(TYMP):c.1308dup (p.Trp437fs)	LOC130067862, SCO2 +1 more (W437fs +1 more)	Duplication (frameshift variant +1 more)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 553052	NM_001953.5(TYMP):c.1441C>T (p.Gln481Ter)	SCO2, TYMP (Q481* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified +3 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 512317	NM_001953.5(TYMP):c.517-15G>A	TYMP	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 502761	NM_002693.3(POLG):c.1420C>A (p.Leu474Ile)	POLG, POLGARF (L474I)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 458718	NM_002693.3(POLG):c.3667A>G (p.Ile1223Val)	FANCI, POLG +1 more (I1223V)	Single nucleotide variant (missense variant +1 more)	Progressive sclerosing poliodystrophy +8 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 458698	NM_002693.3(POLG):c.1882C>T (p.Arg628Trp)	POLGARF, POLG (R628W)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +5 more	GUncertain significance
Select item 458687	NM_002693.3(POLG):c.1276G>A (p.Gly426Ser)	POLG, POLGARF (G426S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GConflicting classifications of pathogenicity
Select item 452496	NM_002693.3(POLG):c.729C>A (p.Asp243Glu)	POLG, POLGARF (D243E)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +7 more	GUncertain significance
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 449762	NM_002693.3(POLG):c.2530G>A (p.Val844Met)	POLG, POLGARF (V844M)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +6 more	GUncertain significance
Select item 448102	NM_002693.3(POLG):c.2468G>A (p.Arg823His)	POLG, POLGARF (R823H)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 440503	NM_001953.5(TYMP):c.763_765del (p.Leu255del)	TYMP (L255del)	Deletion (inframe_deletion)	Mitochondrial DNA depletion syndrome 1	GPathogenic
Select item 440502	NM_001953.5(TYMP):c.628A>C (p.Ser210Arg)	TYMP (S210R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1	GPathogenic
Select item 432673	NM_002693.3(POLG):c.629C>T (p.Thr210Ile)	POLG, POLGARF (T210I)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 432020	NM_002693.3(POLG):c.1613A>C (p.Glu538Ala)	POLG, POLGARF (E538A)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 424791	NM_002693.2(POLG):c.[2554C>T];[32G>A]			Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +1 more	GLikely pathogenic

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