ClinVar for MedGen (Select 155901) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25802291.	NM_014362.4(HIBCH):c.991C>T (p.Arg331Trp) GRCh37: Chr2:191077702 GRCh38: Chr2:190212976	HIBCH	R331W	Mitochondrial disease	Uncertain significance (May 4, 2023)	criteria provided, single submitter
Select item 25802242.	NM_004046.6(ATP5F1A):c.326T>C (p.Leu109Ser) GRCh37: Chr18:43669946 GRCh38: Chr18:46089980	ATP5F1A	L109S, L59S	Mitochondrial disease	Uncertain significance (Feb 6, 2023)	criteria provided, single submitter
Select item 25802103.	NM_023936.2(MRPS34):c.289C>T (p.Leu97Phe) GRCh37: Chr16:1822832 GRCh38: Chr16:1772831	EME2, LOC130058183, MRPS34	L97F	Mitochondrial disease	Uncertain significance (May 22, 2023)	criteria provided, single submitter
Select item 25730014.	NM_017775.4(TTC19):c.451C>T (p.Gln151Ter) GRCh37: Chr17:15906134 GRCh38: Chr17:16002820	TTC19	Q151, Q44	Mitochondrial disease	Pathogenic (Mar 14, 2023)	criteria provided, single submitter
Select item 21369255.	NM_021830.5(TWNK):c.1198C>T (p.Arg400Cys) GRCh37: Chr10:102749165 GRCh38: Chr10:100989408	TWNK	R400C	not provided, Mitochondrial disease	Conflicting interpretations of pathogenicity (Jun 23, 2023)	criteria provided, conflicting interpretations
Select item 18102236.	NM_001098.3(ACO2):c.1534G>A (p.Asp512Asn) GRCh37: Chr22:41920901 GRCh38: Chr22:41524897	ACO2	D512N	not provided, Mitochondrial disease	Conflicting interpretations of pathogenicity (Feb 9, 2023)	criteria provided, conflicting interpretations
Select item 17017207.	NC_012920.1(MT-ND3):m.10161A>T GRCh37: ChrMT:10161 GRCh38: ChrMT:10161	MT-ND3		Mitochondrial disease	Uncertain significance (Feb 15, 2022)	criteria provided, single submitter
Select item 16985008.	NM_002693.3(POLG):c.[1760C>T;752C>T] GRCh37: Chr15:89873415 Chr15:89868870 GRCh38: Chr15:89330184 Chr15:89325639	POLG, POLGARF, POLG, POLGARF	T251I, P587L	POLG-Related Spectrum Disorders	Pathogenic (Jun 7, 2022)	criteria provided, single submitter
Select item 16935539.	NC_012920.1(MT-ND5):m.13379A>G GRCh37: ChrMT:13379 GRCh38: ChrMT:13379	MT-ND5		Mitochondrial disease	Uncertain significance (Jun 30, 2022)	reviewed by expert panel FDA Recognized Database
Select item 169030410.	NM_024678.6(NARS2):c.922-21_922-19del GRCh37: Chr11:78189540-78189542 GRCh38: Chr11:78478494-78478496	NARS2		Mitochondrial disease	Pathogenic	no assertion criteria provided
Select item 167631511.	NC_012920.1(MT-CO1):m.7028C>T GRCh37: ChrMT:7028 GRCh38: ChrMT:7028	MT-CO1		Mitochondrial disease	Benign (Mar 24, 2022)	reviewed by expert panel FDA Recognized Database
Select item 152598512.	NM_017446.4(MRPL39):c.896G>T (p.Gly299Val) GRCh37: Chr21:26965149 GRCh38: Chr21:25592837	MRPL39	G299V	Mitochondrial disease	Likely pathogenic (Mar 24, 2022)	no assertion criteria provided
Select item 132851213.	NC_012920.1(MT-ND2):m.4735C>G GRCh37: ChrMT:4735 GRCh38: ChrMT:4735	MT-ND2		Mitochondrial disease	Uncertain significance (Dec 10, 2021)	reviewed by expert panel FDA Recognized Database
Select item 132851114.	NC_012920.1(MT-CO1):m.7092T>C GRCh37: ChrMT:7092 GRCh38: ChrMT:7092	MT-CO1		Mitochondrial disease	Uncertain significance (Dec 10, 2021)	reviewed by expert panel FDA Recognized Database
Select item 132851015.	NC_012920.1(MT-ND3):m.10172G>A GRCh37: ChrMT:10172 GRCh38: ChrMT:10172	MT-ND3		Mitochondrial disease	Likely benign (Oct 26, 2021)	reviewed by expert panel FDA Recognized Database
Select item 129948816.	NM_012062.5(DNM1L):c.2128A>G (p.Arg710Gly) GRCh37: Chr12:32895656 GRCh38: Chr12:32742722	DNM1L	R507G, R673G, R684G, R686G, R699G, R710G, R712G, R723G	Mitochondrial disease	Likely pathogenic (Oct 8, 2021)	criteria provided, single submitter
Select item 129948717.	NM_012062.5(DNM1L):c.687_689dup (p.Leu230dup) GRCh37: Chr12:32871642-32871643 GRCh38: Chr12:32718708-32718709	DNM1L		not provided, Mitochondrial disease	Conflicting interpretations of pathogenicity (Jul 1, 2022)	criteria provided, conflicting interpretations
Select item 129948618.	NM_012062.5(DNM1L):c.1088G>A (p.Gly363Asp) GRCh37: Chr12:32883956 GRCh38: Chr12:32731022	DNM1L	G160D, G363D, G376D	Mitochondrial disease	Likely pathogenic (Oct 8, 2021)	criteria provided, single submitter
Select item 129948519.	NM_012062.5(DNM1L):c.1201G>A (p.Gly401Ser) GRCh37: Chr12:32884290 GRCh38: Chr12:32731356	DNM1L	G198S, G401S, G414S	DNM1L-related disorders, Mitochondrial disease	Likely pathogenic (Oct 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117252620.	NC_012920.1(MT-ATP6):m.8936T>A GRCh37: ChrMT:8936 GRCh38: ChrMT:8936	MT-ATP6		Mitochondrial disease	Uncertain significance (Mar 22, 2021)	reviewed by expert panel FDA Recognized Database
Select item 99328421.	NM_032906.5(PYURF):c.289_290dup (p.Gln97fs) GRCh37: Chr4:89443093-89443094 GRCh38: Chr4:88521942-88521943	PIGY, PYURF	Q97fs	Mitochondrial disease	Pathogenic (Jan 18, 2021)	no assertion criteria provided
Select item 98650122.	NC_012920.1(MT-ND5):m.13379A>C GRCh37: ChrMT:13379 GRCh38: ChrMT:13379	MT-ND5		Mitochondrial disease	Uncertain significance (Jun 30, 2022)	reviewed by expert panel FDA Recognized Database
Select item 98649623.	NC_012920.1(MT-TL2):m.12316G>A GRCh37: ChrMT:12316 GRCh38: ChrMT:12316	MT-TL2		Mitochondrial disease	Uncertain significance (Feb 27, 2023)	reviewed by expert panel FDA Recognized Database
Select item 98649424.	NC_012920.1(MT-TL2):m.12294G>A GRCh37: ChrMT:12294 GRCh38: ChrMT:12294	MT-TL2		Mitochondrial disease	Uncertain significance (Oct 24, 2022)	reviewed by expert panel FDA Recognized Database
Select item 98647725.	NC_012920.1(MT-TN):m.5690A>G GRCh37: ChrMT:5690 GRCh38: ChrMT:5690	MT-TN		Mitochondrial disease	Likely pathogenic (Jan 9, 2023)	reviewed by expert panel FDA Recognized Database
Select item 98647226.	NC_012920.1(MT-ATP6):m.9155A>G GRCh37: ChrMT:9155 GRCh38: ChrMT:9155	MT-ATP6		Mitochondrial disease	Likely pathogenic (Jul 25, 2022)	reviewed by expert panel FDA Recognized Database
Select item 98645827.	NC_012920.1(MT-TL1):m.3280A>G GRCh37: ChrMT:3280 GRCh38: ChrMT:3280	MT-TL1		Mitochondrial disease	Uncertain significance (Aug 23, 2022)	reviewed by expert panel FDA Recognized Database
Select item 98645428.	NC_012920.1(MT-TL1):m.3258T>C GRCh37: ChrMT:3258 GRCh38: ChrMT:3258	MT-TL1		Mitochondrial disease	Likely pathogenic (Aug 8, 2022)	reviewed by expert panel FDA Recognized Database
Select item 98644029.	NC_012920.1(MT-TM):m.4450G>A GRCh37: ChrMT:4450 GRCh38: ChrMT:4450	MT-TM		Mitochondrial disease	Likely pathogenic (Feb 27, 2023)	reviewed by expert panel FDA Recognized Database
Select item 98642230.	NC_012920.1(MT-TK):m.8306T>C GRCh37: ChrMT:8306 GRCh38: ChrMT:8306	MT-TK		Mitochondrial disease	Uncertain significance (Oct 24, 2022)	reviewed by expert panel FDA Recognized Database
Select item 88682931.	NM_002693.3(POLG):c.*100G>A GRCh37: Chr15:89859882 GRCh38: Chr15:89316651	FANCI, POLG, POLGARF		Mitochondrial disease	Uncertain significance (May 6, 2021)	reviewed by expert panel FDA Recognized Database
Select item 88582432.	NM_002693.3(POLG):c.*420A>G GRCh37: Chr15:89859562 GRCh38: Chr15:89316331	FANCI, POLGARF, POLG		Mitochondrial disease	Uncertain significance (May 6, 2021)	reviewed by expert panel FDA Recognized Database
Select item 87059633.	NC_012920.1(MT-TP):m.15958A>T GRCh37: ChrMT:15958 GRCh38: ChrMT:15958	MT-TP		Mitochondrial disease	Pathogenic (Oct 1, 2019)	no assertion criteria provided
Select item 87057334.	NC_012920.1(MT-CYB):m.590A>G GRCh37: ChrMT:590 GRCh38: ChrMT:590	MT-TF		Mitochondrial disease	Pathogenic (Oct 1, 2019)	no assertion criteria provided
Select item 81329635.	NM_004549.6(NDUFC2):c.346_*7del (p.His116fs) GRCh37: Chr11:77781026-77781047 GRCh38: Chr11:78069980-78070001	NDUFC2, NDUFC2-KCTD14	H93fs, H116fs	Mitochondrial disease	Pathogenic (Feb 10, 2020)	criteria provided, single submitter
Select item 81329536.	NM_004549.6(NDUFC2):c.173A>T (p.His58Leu) GRCh37: Chr11:77784181 GRCh38: Chr11:78073135	NDUFC2, NDUFC2-KCTD14	H58L	Mitochondrial disease	Pathogenic (Feb 10, 2020)	criteria provided, single submitter
Select item 80594737.	NC_012920.1(MT-TE):m.14724G>A GRCh37: ChrMT:14724 GRCh38: ChrMT:14724	MT-TE		Mitochondrial disease, Abnormal basal ganglia MRI signal intensity, Gonadal dysgenesis, Cerebellar ataxia, Progressive spastic paraparesis	Pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80050438.	NC_012920.1(MT-ND1):m.3761C>A GRCh37: ChrMT:3761 GRCh38: ChrMT:3761	MT-ND1		Mitochondrial disease, See cases	Pathogenic/Likely pathogenic (Dec 9, 2019)	criteria provided, multiple submitters, no conflicts
Select item 80050339.	NC_012920.1(MT-ND6):m.14513_14514del GRCh37: ChrMT:14512-14513 GRCh38: ChrMT:14512-14513	MT-ND6		Mitochondrial disease	Pathogenic (Dec 9, 2019)	criteria provided, single submitter
Select item 69439440.	NM_021830.5(TWNK):c.793C>T (p.Arg265Cys) GRCh37: Chr10:102748760 GRCh38: Chr10:100989003	TWNK	R265C	not provided, Mitochondrial disease, TWNK-related condition, Perrault syndrome 5, Infantile onset spinocerebellar ataxia	Conflicting interpretations of pathogenicity (Jun 23, 2023)	criteria provided, conflicting interpretations
Select item 69382841.	NC_012920.1(MT-CYB):m.15117T>C GRCh37: ChrMT:15117 GRCh38: ChrMT:15117	MT-CYB		Mitochondrial disease	Uncertain significance (Dec 10, 2021)	reviewed by expert panel FDA Recognized Database
Select item 69351642.	NC_012920.1:m.13094T>C GRCh37: ChrMT:13094 GRCh38: ChrMT:13094	MT-ND5		Mitochondrial disease	Pathogenic (Jul 25, 2022)	reviewed by expert panel FDA Recognized Database
Select item 69346043.	NC_012920.1(MT-ND5):m.12544A>G GRCh37: ChrMT:12544 GRCh38: ChrMT:12544	MT-ND5		Mitochondrial disease	Uncertain significance (Dec 10, 2021)	reviewed by expert panel FDA Recognized Database
Select item 69306744.	NC_012920.1(MT-ATP6):m.9055G>A GRCh37: ChrMT:9055 GRCh38: ChrMT:9055	MT-ATP6		Mitochondrial disease	Benign (Oct 26, 2021)	reviewed by expert panel FDA Recognized Database
Select item 69306245.	NC_012920.1(MT-ATP6):m.9038T>C GRCh37: ChrMT:9038 GRCh38: ChrMT:9038	MT-ATP6		Mitochondrial disease	Uncertain significance (Apr 17, 2023)	reviewed by expert panel FDA Recognized Database
Select item 69306146.	NC_012920.1(MT-ATP6):m.9032T>C GRCh37: ChrMT:9032 GRCh38: ChrMT:9032	MT-ATP6		Mitochondrial disease	Uncertain significance (Oct 26, 2021)	reviewed by expert panel FDA Recognized Database
Select item 69305847.	NC_012920.1(MT-ATP6):m.9026G>A GRCh37: ChrMT:9026 GRCh38: ChrMT:9026	MT-ATP6		Mitochondrial disease	Uncertain significance (Mar 22, 2021)	reviewed by expert panel FDA Recognized Database
Select item 69290048.	NC_012920.1:m.8557G>A GRCh37: ChrMT:8557 GRCh38: ChrMT:8557	MT-ATP6, MT-ATP8		Mitochondrial disease	Benign (Mar 24, 2022)	reviewed by expert panel FDA Recognized Database
Select item 69276749.	NC_012920.1(MT-CO2):m.7724A>T GRCh37: ChrMT:7724 GRCh38: ChrMT:7724	MT-CO2		Mitochondrial disease	Uncertain significance (Jul 24, 2023)	reviewed by expert panel FDA Recognized Database
Select item 69268750.	NC_012920.1(MT-CO1):m.6951G>A GRCh37: ChrMT:6951 GRCh38: ChrMT:6951	MT-CO1		Mitochondrial disease	Likely benign (Jul 10, 2023)	reviewed by expert panel FDA Recognized Database
Select item 69256751.	NC_012920.1(MT-ND2):m.5293G>A GRCh37: ChrMT:5293 GRCh38: ChrMT:5293	MT-ND2		Mitochondrial disease	Likely benign (Mar 24, 2022)	reviewed by expert panel FDA Recognized Database
Select item 69252352.	NC_012920.1(MT-ND2):m.4935A>G GRCh37: ChrMT:4935 GRCh38: ChrMT:4935	MT-ND2		Leigh syndrome	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 69234353.	NC_012920.1(MT-ND1):m.3357G>C GRCh37: ChrMT:3357 GRCh38: ChrMT:3357	MT-ND1		Mitochondrial disease	Uncertain significance (Dec 10, 2021)	reviewed by expert panel FDA Recognized Database
Select item 69164654.	NM_020247.5(COQ8A):c.1029_1030delinsCA (p.Gln343_Val344delinsHisMet) GRCh37: Chr1:227170684-227170685 GRCh38: Chr1:226982983-226982984	COQ8A		Mitochondrial disease	Likely pathogenic (Sep 18, 2019)	criteria provided, single submitter
Select item 69164555.	NM_020247.5(COQ8A):c.730+608_854-25del GRCh37: Chr1:227165830-227170352 GRCh38: Chr1:226978129-226982651	COQ8A		Mitochondrial disease	Likely pathogenic (Sep 18, 2019)	criteria provided, single submitter
Select item 69164456.	NM_001086521.2(NDUFAF8):c.45_52dup (p.Phe18fs) GRCh37: Chr17:79213202-79213203 GRCh38: Chr17:81239402-81239403	LOC130061928, LOC130061929, NDUFAF8	F18fs	Mitochondrial disease	Pathogenic (Oct 9, 2019)	criteria provided, single submitter
Select item 69164357.	NM_001086521.2(NDUFAF8):c.1A>G (p.Met1Val) GRCh37: Chr17:79213164 GRCh38: Chr17:81239364	LOC130061928, NDUFAF8	M1V	Mitochondrial disease	Pathogenic (Oct 9, 2019)	criteria provided, single submitter
Select item 69164258.	NM_001086521.2(NDUFAF8):c.195+271C>T GRCh37: Chr17:79213749 GRCh38: Chr17:81239949	NDUFAF8		not provided, Mitochondrial disease, Mitochondrial complex 1 deficiency, nuclear type 34	Pathogenic/Likely pathogenic (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69164159.	NM_001086521.2(NDUFAF8):c.165C>G (p.Phe55Leu) GRCh37: Chr17:79213448 GRCh38: Chr17:81239648	NDUFAF8	F55L	Mitochondrial disease	Likely pathogenic (Oct 9, 2019)	criteria provided, single submitter
Select item 69028060.	NC_012920.1(MT-ATP6):m.9035T>C GRCh37: ChrMT:9035 GRCh38: ChrMT:9035	MT-ATP6		Mitochondrial disease	Likely pathogenic (Jun 30, 2022)	reviewed by expert panel FDA Recognized Database
Select item 69020761.	NC_012920.1(MT-CYB):m.14710G>A GRCh37: ChrMT:14710 GRCh38: ChrMT:14710	MT-TE		Mitochondrial disease	Uncertain significance (Dec 15, 2022)	reviewed by expert panel FDA Recognized Database
Select item 69019362.	NC_012920.1(MT-CYB):m.12308A>G GRCh37: ChrMT:12308 GRCh38: ChrMT:12308	MT-TL2		Mitochondrial disease	Benign (Jan 10, 2022)	reviewed by expert panel FDA Recognized Database
Select item 69018963.	NC_012920.1(MT-CYB):m.12293G>A GRCh37: ChrMT:12293 GRCh38: ChrMT:12293	MT-TL2		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69018264.	NC_012920.1(MT-CYB):m.12278T>C GRCh37: ChrMT:12278 GRCh38: ChrMT:12278	MT-TL2		Mitochondrial disease, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, multiple submitters, no conflicts
Select item 69018165.	NC_012920.1(MT-CYB):m.12276G>A GRCh37: ChrMT:12276 GRCh38: ChrMT:12276	MT-TL2		Mitochondrial disease	Likely pathogenic (Nov 30, 2022)	reviewed by expert panel FDA Recognized Database
Select item 69012366.	NC_012920.1(MT-CYB):m.10455A>G GRCh37: ChrMT:10455 GRCh38: ChrMT:10455	MT-TR		Mitochondrial disease	Uncertain significance (Dec 10, 2021)	reviewed by expert panel FDA Recognized Database
Select item 69011267.	NC_012920.1(MT-CYB):m.10406G>A GRCh37: ChrMT:10406 GRCh38: ChrMT:10406	MT-TR		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, Mitochondrial disease	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69010468.	NC_012920.1(MT-CYB):m.10034T>C GRCh37: ChrMT:10034 GRCh38: ChrMT:10034	MT-TG		Mitochondrial disease	Benign (Mar 24, 2022)	reviewed by expert panel FDA Recognized Database
Select item 69005069.	NC_012920.1(MT-TD):m.7566G>A GRCh37: ChrMT:7566 GRCh38: ChrMT:7566	MT-TD		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, Mitochondrial disease	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 68997370.	NC_012920.1(MT-CYB):m.5672T>C GRCh37: ChrMT:5672 GRCh38: ChrMT:5672	MT-TN		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 68994171.	NC_012920.1(MT-CYB):m.5558A>G GRCh37: ChrMT:5558 GRCh38: ChrMT:5558	MT-TW		Mitochondrial disease	Uncertain significance (Dec 10, 2021)	reviewed by expert panel FDA Recognized Database
Select item 68993072.	NC_012920.1(MT-CYB):m.5538G>A GRCh37: ChrMT:5538 GRCh38: ChrMT:5538	MT-TW		Mitochondrial disease	Uncertain significance (Oct 26, 2021)	reviewed by expert panel FDA Recognized Database
Select item 68988573.	NC_012920.1(MT-CYB):m.4327T>C GRCh37: ChrMT:4327 GRCh38: ChrMT:4327	MT-TI		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 68987574.	NC_012920.1(MT-CYB):m.4308G>A GRCh37: ChrMT:4308 GRCh38: ChrMT:4308	MT-TI		Mitochondrial disease	Uncertain significance (Oct 10, 2022)	reviewed by expert panel FDA Recognized Database
Select item 68987475.	NC_012920.1(MT-CYB):m.4298G>A GRCh37: ChrMT:4298 GRCh38: ChrMT:4298	MT-TI		Mitochondrial disease	Uncertain significance (Dec 12, 2022)	reviewed by expert panel FDA Recognized Database
Select item 68987176.	NC_012920.1(MT-CYB):m.3302A>G GRCh37: ChrMT:3302 GRCh38: ChrMT:3302	MT-TL1		Mitochondrial disease	Likely pathogenic (Nov 14, 2022)	reviewed by expert panel FDA Recognized Database
Select item 68985677.	NC_012920.1(MT-CYB):m.3243A>T GRCh37: ChrMT:3243 GRCh38: ChrMT:3243	MT-TL1		Mitochondrial disease	Likely pathogenic (Oct 10, 2022)	reviewed by expert panel FDA Recognized Database
Select item 68984678.	NC_012920.1(MT-CYB):m.1644G>A GRCh37: ChrMT:1644 GRCh38: ChrMT:1644	MT-TV		Mitochondrial disease	Likely pathogenic (Dec 10, 2021)	reviewed by expert panel FDA Recognized Database
Select item 68984079.	NC_012920.1(MT-CYB):m.1630A>G GRCh37: ChrMT:1630 GRCh38: ChrMT:1630	MT-TV		Mitochondrial disease	Uncertain significance (Nov 14, 2022)	reviewed by expert panel FDA Recognized Database
Select item 68981880.	NC_012920.1(MT-CYB):m.618T>C GRCh37: ChrMT:618 GRCh38: ChrMT:618	MT-TF		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, Mitochondrial disease	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 67762881.	NM_002693.3(POLG):c.3483-164A>C GRCh37: Chr15:89860931 GRCh38: Chr15:89317700	POLGARF, POLG		Mitochondrial disease	Benign (May 6, 2021)	reviewed by expert panel FDA Recognized Database
Select item 66795182.	NM_002693.3(POLG):c.1250+188A>G GRCh37: Chr15:89871499 GRCh38: Chr15:89328268	POLG, POLGARF		Mitochondrial disease	Benign (May 7, 2021)	reviewed by expert panel FDA Recognized Database
Select item 61949683.	NM_002693.3(POLG):c.3643+48A>G GRCh37: Chr15:89860559 GRCh38: Chr15:89317328	POLGARF, POLG		Mitochondrial disease	Uncertain significance (May 6, 2021)	reviewed by expert panel FDA Recognized Database
Select item 61949484.	NM_002693.3(POLG):c.3483-41A>C GRCh37: Chr15:89860808 GRCh38: Chr15:89317577	POLG, POLGARF		Mitochondrial disease	Benign (May 6, 2021)	reviewed by expert panel FDA Recognized Database
Select item 61934085.	NM_002693.3(POLG):c.3572A>G (p.Lys1191Arg) GRCh37: Chr15:89860678 GRCh38: Chr15:89317447	POLG, POLGARF	K1191R	Mitochondrial disease	Uncertain significance (May 6, 2021)	reviewed by expert panel FDA Recognized Database
Select item 61821986.	NC_012920.1(MT-ND6):m.14633A>G GRCh37: ChrMT:14633 GRCh38: ChrMT:14633	MT-ND6		Mitochondrial disease	Uncertain significance (Mar 28, 2023)	reviewed by expert panel FDA Recognized Database
Select item 61821687.	NC_012920.1(MT-CYB):m.15467A>G GRCh37: ChrMT:15467 GRCh38: ChrMT:15467	MT-CYB		Mitochondrial disease	Uncertain significance (Mar 28, 2023)	reviewed by expert panel FDA Recognized Database
Select item 59780888.	NM_002693.3(POLG):c.3643+2T>C GRCh37: Chr15:89860605 GRCh38: Chr15:89317374	POLGARF, POLG		Mitochondrial disease	Pathogenic (May 6, 2021)	reviewed by expert panel FDA Recognized Database
Select item 56673389.	NM_002693.3(POLG):c.3523C>T (p.Gln1175Ter) GRCh37: Chr15:89860727 GRCh38: Chr15:89317496	POLG, POLGARF	Q1175*	Mitochondrial disease	Likely pathogenic (May 23, 2021)	reviewed by expert panel FDA Recognized Database
Select item 56016090.	NM_005015.5(OXA1L):c.440G>T (p.Cys147Phe) GRCh37: Chr14:23239000 GRCh38: Chr14:22769791	OXA1L	C147F	Mitochondrial disease	Pathogenic (Jul 25, 2018)	no assertion criteria provided
Select item 56015991.	NM_005015.5(OXA1L):c.320_327dup (p.Ser110fs) GRCh37: Chr14:23237259-23237260 GRCh38: Chr14:22768050-22768051	OXA1L	S110fs	Mitochondrial disease	Pathogenic (Jul 25, 2018)	no assertion criteria provided
Select item 54966692.	NM_002490.6(NDUFA6):c.355del (p.Leu119fs) GRCh37: Chr22:42482219 GRCh38: Chr22:42086215	NDUFA6	L119fs	Mitochondrial complex 1 deficiency, nuclear type 33, Mitochondrial disease	Pathogenic (Dec 13, 2018)	no assertion criteria provided
Select item 54966593.	NM_002490.6(NDUFA6):c.309del (p.Met104fs) GRCh37: Chr22:42482265 GRCh38: Chr22:42086261	NDUFA6	M104fs	Inborn genetic diseases	Likely pathogenic (Jan 20, 2022)	criteria provided, single submitter
Select item 52271794.	NC_012920.1:m.12372G>A GRCh37: ChrMT:12372 GRCh38: ChrMT:12372	MT-ND5		not specified, Mitochondrial disease	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 52271695.	NC_012920.1:m.11467A>G GRCh37: ChrMT:11467 GRCh38: ChrMT:11467	MT-ND4		not specified, Mitochondrial disease	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 48938696.	NM_001687.5(ATP5F1D):c.317T>G (p.Val106Gly) GRCh37: Chr19:1244117 GRCh38: Chr19:1244118	ATP5F1D	V106G	Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5, Mitochondrial disease	Pathogenic (Sep 17, 2018)	no assertion criteria provided
Select item 48747897.	NM_002490.6(NDUFA6):c.265G>T (p.Glu89Ter) GRCh37: Chr22:42482309 GRCh38: Chr22:42086305	NDUFA6	E89*	Mitochondrial complex 1 deficiency, nuclear type 33, Mitochondrial disease	Pathogenic (Dec 13, 2018)	no assertion criteria provided
Select item 48747798.	NM_002490.6(NDUFA6):c.191G>C (p.Arg64Pro) GRCh37: Chr22:42483128 GRCh38: Chr22:42087124	NDUFA6	R64P	Mitochondrial complex 1 deficiency, nuclear type 33, Mitochondrial disease	Pathogenic (Dec 13, 2018)	no assertion criteria provided
Select item 48747699.	NM_002490.6(NDUFA6):c.3G>A (p.Met1Ile) GRCh37: Chr22:42486746 GRCh38: Chr22:42090742	NDUFA6	M1I	Mitochondrial disease, Mitochondrial complex 1 deficiency, nuclear type 33	Pathogenic (Dec 13, 2018)	no assertion criteria provided
Select item 487475100.	NM_002490.6(NDUFA6):c.331_332del (p.Glu111fs) GRCh37: Chr22:42482242-42482243 GRCh38: Chr22:42086238-42086239	NDUFA6	E111fs	Mitochondrial complex 1 deficiency, nuclear type 33, Mitochondrial disease	Pathogenic (Dec 13, 2018)	no assertion criteria provided

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