ClinVar for MedGen (Select 155901) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340476	NM_005006.7(NDUFS1):c.699dup (p.Lys234Ter)	NDUFS1 (K123* +4 more)	Duplication (nonsense)	Mitochondrial disease	GLikely pathogenic
Select item 3069159	NC_012920.1(MT-TI):m.4311G>A	MT-TI	Single nucleotide variant	Mitochondrial disease	GUncertain significance
Select item 3062051	NC_012920.1(MT-CYB):m.15261G>C	MT-CYB	Single nucleotide variant	Mitochondrial disease	GUncertain significance
Select item 2683758	NC_012920.1(MT-ND5):m.13345G>A	MT-ND5	Single nucleotide variant	Mitochondrial disease	GUncertain significance
Select item 2664158	NC_012920.1(MT-CYB):m.15192T>G	MT-CYB	Single nucleotide variant	Mitochondrial disease	GUncertain significance
Select item 2580229	NM_014362.4(HIBCH):c.991C>T (p.Arg331Trp)	HIBCH (R331W)	Single nucleotide variant (missense variant)	Mitochondrial disease	GUncertain significance
Select item 2580224	NM_004046.6(ATP5F1A):c.326T>C (p.Leu109Ser)	ATP5F1A (L109S +1 more)	Single nucleotide variant (missense variant)	Mitochondrial disease +1 more	GConflicting classifications of pathogenicity
Select item 2580210	NM_023936.2(MRPS34):c.289C>T (p.Leu97Phe)	EME2, LOC130058183 +1 more (L97F)	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial disease	GUncertain significance
Select item 2573001	NM_017775.4(TTC19):c.451C>T (p.Gln151Ter)	TTC19 (Q151* +1 more)	Single nucleotide variant (nonsense)	Mitochondrial disease	GPathogenic
Select item 2136925	NM_021830.5(TWNK):c.1198C>T (p.Arg400Cys)	TWNK (R400C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1810223	NM_001098.3(ACO2):c.1534G>A (p.Asp512Asn)	ACO2 (D512N)	Single nucleotide variant (missense variant)	Mitochondrial disease +1 more	GConflicting classifications of pathogenicity
Select item 1701720	NC_012920.1(MT-ND3):m.10161A>T	MT-ND3	Single nucleotide variant	Mitochondrial disease	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 1693553	NC_012920.1(MT-ND5):m.13379A>G	MT-ND5	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 1690304	NM_024678.6(NARS2):c.922-21_922-19del	NARS2	Deletion (intron variant)	Mitochondrial disease	GPathogenic
Select item 1679204	NC_012920.1(MT-TL1):m.3273del	MT-TL1	Deletion	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 1676315	NC_012920.1(MT-CO1):m.7028C>T	MT-CO1	Single nucleotide variant	Mitochondrial disease	GBenign FDA Recognized database
Select item 1525985	NM_017446.4(MRPL39):c.896G>T (p.Gly299Val)	MRPL39 (G299V)	Single nucleotide variant (missense variant)	Mitochondrial disease	GLikely pathogenic
Select item 1328512	NC_012920.1(MT-ND2):m.4735C>G	MT-ND2	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 1328511	NC_012920.1(MT-CO1):m.7092T>C	MT-CO1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 1328510	NC_012920.1(MT-ND3):m.10172G>A	MT-ND3	Single nucleotide variant	Mitochondrial disease	GLikely benign FDA Recognized database
Select item 1299488	NM_012062.5(DNM1L):c.2128A>G (p.Arg710Gly)	DNM1L (R507G +7 more)	Single nucleotide variant (missense variant)	Mitochondrial disease	GLikely pathogenic
Select item 1299487	NM_012062.5(DNM1L):c.687_689dup (p.Leu230dup)	DNM1L	Duplication (inframe_insertion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1299486	NM_012062.5(DNM1L):c.1088G>A (p.Gly363Asp)	DNM1L (G160D +2 more)	Single nucleotide variant (missense variant)	Mitochondrial disease	GLikely pathogenic
Select item 1299485	NM_012062.5(DNM1L):c.1201G>A (p.Gly401Ser)	DNM1L (G198S +2 more)	Single nucleotide variant (missense variant)	DNM1L-related disorder +1 more	GLikely pathogenic
Select item 1172526	NC_012920.1(MT-ATP6):m.8936T>A	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 993284	NM_032906.5(PYURF):c.289_290dup (p.Gln97fs)	PIGY, PYURF (Q97fs)	Microsatellite (frameshift variant +1 more)	Mitochondrial disease	GPathogenic
Select item 986501	NC_012920.1(MT-ND5):m.13379A>C	MT-ND5	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 986496	NC_012920.1(MT-TL2):m.12316G>A	MT-TL2	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 986494	NC_012920.1(MT-TL2):m.12294G>A	MT-TL2	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 986477	NC_012920.1(MT-TN):m.5690A>G	MT-TN	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 986472	NC_012920.1(MT-ATP6):m.9155A>G	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 986458	NC_012920.1(MT-TL1):m.3280A>G	MT-TL1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 986454	NC_012920.1(MT-TL1):m.3258T>C	MT-TL1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 986440	NC_012920.1(MT-TM):m.4450G>A	MT-TM	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 986424	NC_012920.1(MT-TK):m.8340G>A	MT-TK	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 986422	NC_012920.1(MT-TK):m.8306T>C	MT-TK	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 886829	NM_002693.3(POLG):c.*100G>A	FANCI, POLG	Single nucleotide variant (3 prime UTR variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 885824	NM_002693.3(POLG):c.*420A>G	FANCI, POLG	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 870596	NC_012920.1(MT-TP):m.15958A>T	MT-TP	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 870573	NC_012920.1(MT-CYB):m.590A>G	MT-TF	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 813296	NM_004549.6(NDUFC2):c.346_*7del (p.His116fs)	NDUFC2, NDUFC2-KCTD14 (H93fs +1 more)	Deletion (frameshift variant +1 more)	Mitochondrial disease	GPathogenic
Select item 813295	NM_004549.6(NDUFC2):c.173A>T (p.His58Leu)	NDUFC2, NDUFC2-KCTD14 (H58L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial disease	GPathogenic
Select item 805947	NC_012920.1(MT-TE):m.14724G>A	MT-TE	Single nucleotide variant	Mitochondrial disease +4 more	GPathogenic
Select item 800504	NC_012920.1(MT-ND1):m.3761C>A	MT-ND1	Single nucleotide variant	Mitochondrial disease +1 more	GPathogenic/Likely pathogenic
Select item 800503	NC_012920.1(MT-ND6):m.14513_14514del	MT-ND6	Deletion	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 694394	NM_021830.5(TWNK):c.793C>T (p.Arg265Cys)	TWNK (R265C)	Single nucleotide variant (missense variant +2 more)	Perrault syndrome 5 +4 more	GConflicting classifications of pathogenicity
Select item 693828	NC_012920.1(MT-CYB):m.15117T>C	MT-CYB	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 693516	NC_012920.1:m.13094T>C	MT-ND5	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 693460	NC_012920.1(MT-ND5):m.12544A>G	MT-ND5	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 693440	NC_012920.1(MT-ND5):m.12425del	MT-ND5	Deletion	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 693067	NC_012920.1(MT-ATP6):m.9055G>A	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GBenign FDA Recognized database
Select item 693062	NC_012920.1(MT-ATP6):m.9038T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 693061	NC_012920.1(MT-ATP6):m.9032T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 693058	NC_012920.1(MT-ATP6):m.9026G>A	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 692900	NC_012920.1(MT-ATP6):m.8557G>A	MT-ATP6, MT-ATP8	Single nucleotide variant	Mitochondrial disease	GBenign FDA Recognized database
Select item 692768	NC_012920.1(MT-CO2):m.7746A>G	MT-CO2	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 692767	NC_012920.1(MT-CO2):m.7724A>T	MT-CO2	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 692687	NC_012920.1(MT-CO1):m.6951G>A	MT-CO1	Single nucleotide variant	Mitochondrial disease	GLikely benign FDA Recognized database
Select item 692567	NC_012920.1(MT-ND2):m.5293G>A	MT-ND2	Single nucleotide variant	Mitochondrial disease	GLikely benign FDA Recognized database
Select item 692523	NC_012920.1(MT-ND2):m.4935A>G	MT-ND2	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692343	NC_012920.1(MT-ND1):m.3357G>C	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 691646	NM_020247.5(COQ8A):c.1029_1030delinsCA (p.Gln343_Val344delinsHisMet)	COQ8A	Indel (missense variant)	Mitochondrial disease	GLikely pathogenic
Select item 691645	NM_020247.5(COQ8A):c.730+608_854-25del	COQ8A	Deletion (splice acceptor variant +1 more)	Mitochondrial disease	GLikely pathogenic
Select item 691644	NM_001086521.2(NDUFAF8):c.45_52dup (p.Phe18fs)	LOC130061929, NDUFAF8 +1 more (F18fs)	Duplication (frameshift variant +1 more)	Mitochondrial disease	GPathogenic
Select item 691643	NM_001086521.2(NDUFAF8):c.1A>G (p.Met1Val)	LOC130061928, NDUFAF8 (M1V)	Single nucleotide variant (missense variant +2 more)	Mitochondrial disease	GPathogenic
Select item 691642	NM_001086521.2(NDUFAF8):c.195+271C>T	NDUFAF8	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial disease +2 more	GPathogenic/Likely pathogenic
Select item 691641	NM_001086521.2(NDUFAF8):c.165C>G (p.Phe55Leu)	NDUFAF8 (F55L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial disease	GLikely pathogenic
Select item 690280	NC_012920.1(MT-ATP6):m.9035T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 690207	NC_012920.1(MT-TE):m.14710G>A	MT-TE	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 690193	NC_012920.1(MT-CYB):m.12308A>G	MT-TL2	Single nucleotide variant	Mitochondrial disease	GBenign FDA Recognized database
Select item 690189	NC_012920.1(MT-CYB):m.12293G>A	MT-TL2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690182	NC_012920.1(MT-CYB):m.12278T>C	MT-TL2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +2 more	GConflicting classifications of pathogenicity
Select item 690181	NC_012920.1(MT-CYB):m.12276G>A	MT-TL2	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 690169	NC_012920.1(MT-CYB):m.12241del	MT-TS2	Deletion	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 690161	NC_012920.1(MT-TS2):m.12217A>G	MT-TS2	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 690123	NC_012920.1(MT-CYB):m.10455A>G	MT-TR	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 690112	NC_012920.1(MT-CYB):m.10406G>A	MT-TR	Single nucleotide variant	Mitochondrial disease +1 more	GPathogenic/Likely pathogenic
Select item 690104	NC_012920.1(MT-CYB):m.10034T>C	MT-TG	Single nucleotide variant	Mitochondrial disease	GBenign FDA Recognized database
Select item 690090	NC_012920.1(MT-TG):m.9997T>A	MT-TG	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 690050	NC_012920.1(MT-TD):m.7566G>A	MT-TD	Single nucleotide variant	Mitochondrial disease +1 more	GPathogenic/Likely pathogenic
Select item 689973	NC_012920.1(MT-CYB):m.5672T>C	MT-TN	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689941	NC_012920.1(MT-CYB):m.5558A>G	MT-TW	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 689930	NC_012920.1(MT-CYB):m.5538G>A	MT-TW	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 689929	NC_012920.1(MT-TW):m.5536_5537insT	MT-TW	Insertion	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 689885	NC_012920.1(MT-CYB):m.4327T>C	MT-TI	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 689875	NC_012920.1(MT-CYB):m.4308G>A	MT-TI	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 689874	NC_012920.1(MT-TI):m.4298G>A	MT-TI	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 689871	NC_012920.1(MT-TL1):m.3302A>G	MT-TL1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 689856	NC_012920.1(MT-TL1):m.3243A>T	MT-TL1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 689846	NC_012920.1(MT-CYB):m.1644G>A	MT-TV	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 689840	NC_012920.1(MT-ND1):m.1630A>G	MT-TV	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 689818	NC_012920.1(MT-CYB):m.618T>C	MT-TF	Single nucleotide variant	Mitochondrial disease +1 more	GPathogenic/Likely pathogenic
Select item 677628	NM_002693.3(POLG):c.3483-164A>C	POLG	Single nucleotide variant (intron variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 667951	NM_002693.3(POLG):c.1250+188A>G	POLG	Single nucleotide variant (intron variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 619496	NM_002693.3(POLG):c.3643+48A>G	POLG, POLGARF	Single nucleotide variant (intron variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 619494	NM_002693.3(POLG):c.3483-41A>C	POLG	Single nucleotide variant (intron variant)	Mitochondrial disease	GBenign FDA Recognized database
Select item 619340	NM_002693.3(POLG):c.3572A>G (p.Lys1191Arg)	POLG, POLGARF (K1191R)	Single nucleotide variant (missense variant)	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 618222	NC_012920.1(MT-ND1):m.1619C>T	MT-TV	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 618219	NC_012920.1(MT-ND6):m.14633A>G	MT-ND6	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database

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