ClinVar for MedGen (Select 452449) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336586	NM_002693.3(POLG):c.2768G>A (p.Gly923Asp)	POLG, POLGARF (G923D)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome	GLikely pathogenic
Select item 3233457	NM_002693.3(POLG):c.1760_1765delinsTGGGCA (p.Pro587_Pro589delinsLeuGlyThr)	POLG, POLGARF	Indel (missense variant)	Mitochondrial DNA depletion syndrome	GLikely pathogenic
Select item 3063945	NC_000002.11:g.(27535977_27545314)_(27545965_?)del	MPV17	Deletion	Mitochondrial DNA depletion syndrome	GPathogenic
Select item 2681195	NM_002437.5(MPV17):c.[122G>A];[71-2A>G]			Charcot-Marie-Tooth disease, axonal, type 2EE	GLikely pathogenic
Select item 2581455	NM_002437.5(MPV17):c.70+5G>A	MPV17	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1810247	NM_002437.5(MPV17):c.280G>C (p.Gly94Arg)	MPV17 (G94R)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 1677093	NM_004614.5(TK2):c.71_72insTT (p.Pro25fs)	LOC130059156, TK2 (P25fs)	Insertion (frameshift variant +3 more)	Mitochondrial DNA depletion syndrome	GLikely pathogenic
Select item 1410181	NM_004614.5(TK2):c.415G>A (p.Ala139Thr)	TK2 (A139T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1308463	NM_002693.3(POLG):c.2391G>T (p.Met797Ile)	POLG (M797I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 983269	NM_002437.5(MPV17):c.263_265delinsTGT (p.Lys88_Met89delinsMetLeu)	MPV17	Indel (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 872786	NM_002693.3(POLG):c.868C>T (p.Arg290Cys)	POLG (R290C)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +4 more	GConflicting classifications of pathogenicity
Select item 666968	NM_001278716.2(FBXL4):c.1012G>T (p.Glu338Ter)	FBXL4 (E338*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial DNA depletion syndrome	GLikely pathogenic
Select item 626263	NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)	MPV17 (R41Q)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +3 more	GPathogenic/Likely pathogenic
Select item 619395	NM_002693.3(POLG):c.2551A>G (p.Thr851Ala)	POLG (T851A)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +1 more	GPathogenic
Select item 522129	NM_002693.3(POLG):c.3317T>C (p.Val1106Ala)	POLG (V1106A)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 4b +3 more	GLikely pathogenic
Select item 405572	NM_002693.3(POLG):c.641C>T (p.Ala214Val)	POLG, POLGARF (A214V)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +4 more	GUncertain significance
Select item 381523	NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)	MPV17 (P64R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome +3 more	GPathogenic/Likely pathogenic
Select item 361173	NM_015713.5(RRM2B):c.*74del	RRM2B	Deletion (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +4 more	GUncertain significance
Select item 361154	NM_015713.5(RRM2B):c.*1894dup	RRM2B	Duplication (3 prime UTR variant)	Mitochondrial DNA depletion syndrome +1 more	GBenign
Select item 361149	NM_015713.5(RRM2B):c.2151_2152insA	RRM2B	Insertion (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions +1 more	GLikely benign
Select item 361147	NM_015713.5(RRM2B):c.*2328A>T	RRM2B	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions +1 more	GUncertain significance
Select item 361145	NM_015713.5(RRM2B):c.*2492AAGTT[1]	RRM2B	Microsatellite (3 prime UTR variant)	Mitochondrial DNA depletion syndrome +1 more	GUncertain significance
Select item 361143	NM_015713.5(RRM2B):c.*2613del	RRM2B	Deletion (3 prime UTR variant)	Mitochondrial DNA depletion syndrome +1 more	GUncertain significance
Select item 361134	NM_015713.5(RRM2B):c.3003_3004del	RRM2B	Deletion (3 prime UTR variant)	Mitochondrial DNA depletion syndrome +1 more	GLikely benign
Select item 337170	NM_003849.3(SUCLG1):c.-186G>A	LOC129934178, SUCLG1	Single nucleotide variant	Mitochondrial DNA depletion syndrome 9 +1 more	GUncertain significance
Select item 337169	NM_003849.3(SUCLG1):c.-150T>A	LOC129934178, SUCLG1	Single nucleotide variant	Mitochondrial DNA depletion syndrome 9 +1 more	GUncertain significance
Select item 337168	NM_003849.3(SUCLG1):c.-133C>T	LOC129934178, SUCLG1	Single nucleotide variant	not provided +2 more	GLikely benign
Select item 337167	NM_003849.3(SUCLG1):c.-107A>G	LOC129934178, SUCLG1	Single nucleotide variant	Mitochondrial DNA depletion syndrome 9 +2 more	GConflicting classifications of pathogenicity
Select item 337166	NM_003849.3(SUCLG1):c.-71G>T	LOC129934178, SUCLG1	Single nucleotide variant	Mitochondrial DNA depletion syndrome 9 +1 more	GUncertain significance
Select item 337165	NM_003849.3(SUCLG1):c.-39C>A	SUCLG1	Single nucleotide variant	Mitochondrial DNA depletion syndrome 9 +1 more	GConflicting classifications of pathogenicity
Select item 337164	NM_003849.3(SUCLG1):c.-39C>G	SUCLG1	Single nucleotide variant	Mitochondrial DNA depletion syndrome 9 +2 more	GConflicting classifications of pathogenicity
Select item 337163	NM_003849.4(SUCLG1):c.98-15_98-14insAACC	SUCLG1	Insertion (intron variant)	Mitochondrial DNA depletion syndrome +1 more	GUncertain significance
Select item 337162	NM_003849.4(SUCLG1):c.98-13_98-11del	SUCLG1	Deletion (intron variant)	Mitochondrial DNA depletion syndrome +2 more	GBenign
Select item 337161	NM_003849.4(SUCLG1):c.98-10_98-8del	SUCLG1	Deletion (intron variant)	Mitochondrial DNA depletion syndrome +1 more	GUncertain significance
Select item 337160	NM_003849.4(SUCLG1):c.101C>T (p.Pro34Leu)	SUCLG1 (P34L)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome +2 more	GUncertain significance
Select item 337159	NM_003849.4(SUCLG1):c.201+8T>A	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9 +1 more	GConflicting classifications of pathogenicity
Select item 337158	NM_003849.4(SUCLG1):c.242A>G (p.Lys81Arg)	SUCLG1 (K81R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9 +1 more	GConflicting classifications of pathogenicity
Select item 337157	NM_003849.4(SUCLG1):c.345T>C (p.Ala115=)	SUCLG1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 337156	NM_003849.4(SUCLG1):c.395C>G (p.Ala132Gly)	SUCLG1 (A132G)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9 +2 more	GConflicting classifications of pathogenicity
Select item 337155	NM_003849.4(SUCLG1):c.590-6G>A	SUCLG1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 337154	NM_003849.4(SUCLG1):c.959G>A (p.Ser320Asn)	SUCLG1 (S320N)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9 +2 more	GUncertain significance
Select item 337153	NM_003849.4(SUCLG1):c.1028G>C (p.Arg343Thr)	SUCLG1 (R343T)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome +1 more	GUncertain significance
Select item 337152	NM_003849.4(SUCLG1):c.*13del	SUCLG1	Deletion (3 prime UTR variant)	Mitochondrial DNA depletion syndrome +1 more	GUncertain significance
Select item 337151	NM_003849.4(SUCLG1):c.*38C>T	SUCLG1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 9 +1 more	GUncertain significance
Select item 337150	NM_003849.4(SUCLG1):c.*55G>C	SUCLG1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 9 +2 more	GLikely benign
Select item 337149	NM_003849.4(SUCLG1):c.*163T>C	SUCLG1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome +2 more	GBenign
Select item 337148	NM_003849.4(SUCLG1):c.*207A>G	SUCLG1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 337147	NM_003849.4(SUCLG1):c.*218A>G	SUCLG1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome +1 more	GUncertain significance
Select item 337053	NM_080916.3(DGUOK):c.206_210dup	DGUOK, DGUOK-AS1	Duplication (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337051	NM_080916.2(DGUOK):c.707+3_707+6dupAAGT	DGUOK	Microsatellite (intron variant)	not provided +1 more	GUncertain significance
Select item 337048	NM_080916.3(DGUOK):c.592-9del	DGUOK	Deletion (intron variant)	Mitochondrial DNA depletion syndrome +1 more	GConflicting classifications of pathogenicity
Select item 337041	NM_080916.2(DGUOK):c.-54C>A	DGUOK	Single nucleotide variant	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 337040	NM_080916.2(DGUOK):c.-60_-57dup	DGUOK	Duplication	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 335527	NM_002437.5(MPV17):c.164T>C (p.Val55Ala)	MPV17 (V55A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 335524	NM_002437.5(MPV17):c.*80C>T	MPV17	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +1 more	GUncertain significance
Select item 335522	NM_002437.5(MPV17):c.*194G>A	MPV17	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome +1 more	GUncertain significance
Select item 320139	NM_004614.5(TK2):c.*1591dup	TK2	Duplication (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 320133	NM_004614.5(TK2):c.1739_1740insC	TK2	Insertion (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 320132	NM_004614.5(TK2):c.1756_1757dup	TK2	Duplication (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome +1 more	GUncertain significance
Select item 320131	NM_004614.5(TK2):c.*1758del	TK2	Deletion (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 320130	NM_004614.5(TK2):c.1758_1759insTT	TK2	Insertion (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 320129	NM_004614.5(TK2):c.1758_1759insT	TK2	Insertion (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 320128	NM_004614.5(TK2):c.*2122G>A	TK2	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 312265	NM_003850.3(SUCLA2):c.*35T>G	SUCLA2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 312264	NM_003850.3(SUCLA2):c.*195A>G	SUCLA2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 312260	NM_003850.3(SUCLA2):c.*294TTC[1]	SUCLA2	Microsatellite (3 prime UTR variant)	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 312252	NM_003850.3(SUCLA2):c.*714dup	SUCLA2	Duplication (3 prime UTR variant)	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 298521	NM_021830.5(TWNK):c.*803A>G	TWNK	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome +3 more	GUncertain significance
Select item 298512	NM_021830.5(TWNK):c.*472GA[2]	TWNK	Microsatellite (3 prime UTR variant +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions +3 more	GLikely benign
Select item 298496	NM_021830.5(TWNK):c.274G>A (p.Gly92Ser)	TWNK (G92S)	Single nucleotide variant (missense variant +2 more)	Mitochondrial DNA depletion syndrome +3 more	GUncertain significance
Select item 298493	NM_021830.5(TWNK):c.-105T>C	TWNK	Single nucleotide variant (5 prime UTR variant +2 more)	Mitochondrial DNA depletion syndrome +3 more	GUncertain significance
Select item 298490	NM_021830.5(TWNK):c.-306GT[1]	TWNK	Microsatellite (5 prime UTR variant +2 more)	Mitochondrial DNA depletion syndrome +4 more	GLikely benign
Select item 279716	NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln)	TWNK (K684Q +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Infantile onset spinocerebellar ataxia +7 more	GConflicting classifications of pathogenicity
Select item 206583	NM_002693.3(POLG):c.830A>T (p.His277Leu)	POLG (H277L)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +7 more	GConflicting classifications of pathogenicity
Select item 206556	NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)	POLG (R1096C)	Single nucleotide variant (missense variant)	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 206555	NM_002693.3(POLG):c.3286C>G (p.Arg1096Gly)	POLG (R1096G)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome +2 more	GPathogenic/Likely pathogenic
Select item 206529	NM_002693.3(POLG):c.2558G>A (p.Arg853Gln)	POLG (R853Q)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +3 more	GPathogenic/Likely pathogenic
Select item 206492	NM_002693.3(POLG):c.391T>C (p.Tyr131His)	POLG, POLGARF (Y131H)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +7 more	GConflicting classifications of pathogenicity
Select item 203970	NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp)	SUCLG1 (G79D)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 203968	NM_003849.4(SUCLG1):c.110G>C (p.Gly37Ala)	SUCLG1 (G37A)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9 +2 more	GConflicting classifications of pathogenicity
Select item 203967	NM_003849.4(SUCLG1):c.900C>T (p.Ala300=)	SUCLG1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 195172	NM_002437.5(MPV17):c.27G>T (p.Arg9=)	MPV17	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +3 more	GConflicting classifications of pathogenicity
Select item 139369	NM_003849.4(SUCLG1):c.202-4T>C	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9 +2 more	GConflicting classifications of pathogenicity
Select item 139368	NM_003849.4(SUCLG1):c.201+9A>G	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome +3 more	GBenign/Likely benign
Select item 137084	NM_080916.2(DGUOK):c.-48G>A	DGUOK	Single nucleotide variant	not specified +2 more	GBenign/Likely benign
Select item 66091	NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter)	FBXL4 (R435*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial DNA depletion syndrome 13 +3 more	GPathogenic
Select item 38995	NM_004614.5(TK2):c.604_606del (p.Lys202del)	TK2 (K202del +5 more)	Deletion (inframe_deletion +2 more)	Mitochondrial DNA depletion syndrome, myopathic form +2 more	GPathogenic/Likely pathogenic
Select item 38992	NM_004614.5(TK2):c.547C>T (p.Arg183Trp)	TK2 (R183W +5 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial DNA depletion syndrome, myopathic form +2 more	GPathogenic
Select item 38990	NM_004614.5(TK2):c.416C>T (p.Ala139Val)	TK2 (A139V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 38986	NM_004614.5(TK2):c.360_361delinsAA (p.His121Asn)	TK2 (H90N +5 more)	Indel (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 38982	NM_004614.5(TK2):c.268C>T (p.Arg90Cys)	TK2 (R90C +3 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GLikely pathogenic
Select item 38978	NM_004614.5(TK2):c.173A>G (p.Asn58Ser)	TK2 (N58S +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 38977	NM_004614.5(TK2):c.156+2T>C	TK2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 38355	NM_002437.5(MPV17):c.293C>T (p.Pro98Leu)	MPV17 (P98L)	Single nucleotide variant (missense variant)	MPV17-related disorder +4 more	GPathogenic
Select item 38353	NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del)	MPV17 (L91del)	Microsatellite (inframe_deletion)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +3 more	GPathogenic/Likely pathogenic
Select item 16160	NM_002437.5(MPV17):c.149G>A (p.Arg50Gln)	MPV17 (R50Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, type 2EE +3 more	GPathogenic
Select item 13515	NM_002693.3(POLG):c.679C>T (p.Arg227Trp)	POLG, POLGARF (R227W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 13512	NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)	POLG (R853W)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome +3 more	GConflicting classifications of pathogenicity
Select item 13506	NM_002693.3(POLG):c.2591A>G (p.Asn864Ser)	POLG (N864S)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome +1 more	GPathogenic
Select item 13502	NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	POLG (G848S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +12 more	GPathogenic

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