Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_021830.4(C10orf2):c.955A>G (p.Lys319Glu) | 56652 | C10orf2 | Pathogenic | 80356543 | RCV000004888; RCV000020867; | N | MedGen:C1836439,OMIM:609286; MedGen:C1843851,OMIM:607459,ORPHA:70595 | 10 | 102748922 | 102748922 | NM_021830.4:c.955A>G | NP_068602.2:p.Lys319Glu | NC_000010.10:g.102748922A>G | OMIM Allelic Variant:606075.0010 | C1836439 609286 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3; C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | |
NM_002693.2(POLG):c.3151G>C (p.Gly1051Arg) | 5428 | POLG | Pathogenic | 121918049 | RCV000014455; RCV000188604; | N | MedGen:C1843851,OMIM:607459,ORPHA:70595; MedGen:CN221809 | 15 | 89862284 | 89862284 | NM_002693.2:c.3151G>C | NP_002684.1:p.Gly1051Arg | NC_000015.9:g.89862284C>G | OMIM Allelic Variant:174763.0010 | CN221809 not provided; C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | |
NM_002693.2(POLG):c.2794C>T (p.His932Tyr) | 5428 | POLG | Pathogenic | 121918048 | RCV000014454; | N | MedGen:C1843851,OMIM:607459,ORPHA:70595 | 15 | 89864184 | 89864184 | NM_002693.2:c.2794C>T | NP_002684.1:p.His932Tyr | NC_000015.9:g.89864184G>A | OMIM Allelic Variant:174763.0009 | C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | |
NM_002693.2(POLG):c.2554C>T (p.Arg852Cys) | 5428 | POLG | Likely pathogenic;Pathogenic | 144500145 | RCV000188581; RCV000196524; | N | MedGen:C1843851,OMIM:607459,ORPHA:70595; MedGen:C1850303,OMIM:258450,ORPHA:254886; MedGen:CN221809 | 15 | 89865011 | 89865011 | NM_002693.2:c.2554C>T | NP_002684.1:p.Arg852Cys | NC_000015.9:g.89865011G>A | - | C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia; CN221809 not provided; C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | |
NM_002693.2(POLG):c.2554C>T (p.Arg852Cys) | 5428 | POLG | Likely pathogenic;Pathogenic | 144500145 | RCV000188581; RCV000196524; | N | MedGen:C1843851,OMIM:607459,ORPHA:70595; MedGen:C1850303,OMIM:258450,ORPHA:254886; MedGen:CN221809 | 15 | 89865011 | 89865011 | NM_002693.2:c.2554C>T | NP_002684.1:p.Arg852Cys | NC_000015.9:g.89865011G>A | - | C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia; CN221809 not provided; C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | |
NM_002693.2(POLG):c.2243G>C (p.Trp748Ser) | 5428 | POLG | Pathogenic;Uncertain significance | 113994097 | RCV000014459; RCV000014460; RCV000014461; RCV000080023; RCV000144870; | N | MedGen:C0007959, Orphanet:ORPHA166,SNOMED CT:50548001; MedGen:C0205710,OMIM:203700,ORPHA:726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459,ORPHA:70595; MedGen:C1843852; MedGen:CN221809 | 15 | 89866657 | 89866657 | NM_002693.2:c.2243G>C | NP_002684.1:p.Trp748Ser | NC_000015.9:g.89866657C>G | HGMD:CM042764,OMIM Allelic Variant:174763.0013 | C0007959 Charcot-Marie-Tooth disease; C1843852 Myoclonic epilepsy myopathy sensory ataxia; CN221809 not provided; C0205710 203700 Progressive sclerosing poliodystrophy; C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | |
NM_002693.2(POLG):c.2243G>C (p.Trp748Ser) | 5428 | POLG | Pathogenic;Uncertain significance | 113994097 | RCV000014459; RCV000014460; RCV000014461; RCV000080023; RCV000144870; | N | MedGen:C0007959, Orphanet:ORPHA166,SNOMED CT:50548001; MedGen:C0205710,OMIM:203700,ORPHA:726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459,ORPHA:70595; MedGen:C1843852; MedGen:CN221809 | 15 | 89866657 | 89866657 | NM_002693.2:c.2243G>C | NP_002684.1:p.Trp748Ser | NC_000015.9:g.89866657C>G | HGMD:CM042764,OMIM Allelic Variant:174763.0013 | C0007959 Charcot-Marie-Tooth disease; C1843852 Myoclonic epilepsy myopathy sensory ataxia; CN221809 not provided; CN169374 not specified; C0205710 203700 Progressive sclerosing poliodystrophy; C1843851 607459 Sensory ataxic neuropathy, dysarthria, an | | |
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) | 5428 | POLG | Pathogenic;Uncertain significance | 121918054 | RCV000174519; RCV000014467; RCV000174520; RCV000188568; RCV000190616; | N | MedGen:C1843851,OMIM:607459,ORPHA:70595; MedGen:C1850303,OMIM:258450,ORPHA:254886; MedGen:C3150914,OMIM:613662; MedGen:CN169374; MedGen:CN221809 | 15 | 89866691 | 89866691 | NM_002693.2:c.2209G>C | NP_002684.1:p.Gly737Arg | NC_000015.9:g.89866691C>G | OMIM Allelic Variant:174763.0019 | C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia; C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type; CN221809 not provided; CN169374 not specified; C1843851 607459 Sensory ataxic neuropathy, dysart | | |
NM_002693.2(POLG):c.1879C>T (p.Arg627Trp) | 5428 | POLG | Pathogenic | 121918046 | RCV000014446; | N | MedGen:C1843851,OMIM:607459,ORPHA:70595 | 15 | 89868751 | 89868751 | NM_002693.2:c.1879C>T | NP_002684.1:p.Arg627Trp | NC_000015.9:g.89868751G>A | OMIM Allelic Variant:174763.0005 | C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | |
NM_002693.2(POLG):c.1399G>A (p.Ala467Thr) | 5428 | POLG | Pathogenic | 113994095 | RCV000014441; RCV000184011; RCV000014440; RCV000014442; RCV000014443; RCV000188658; | N | MedGen:C0205710,OMIM:203700,ORPHA:726,SNOMED CT:20415001; MedGen:C1834846,OMIM:157640; MedGen:C1843851,OMIM:607459,ORPHA:70595; MedGen:C1843852; MedGen:C1850303,OMIM:258450,ORPHA:254886; MedGen:CN221809 | 15 | 89870432 | 89870432 | NM_002693.2:c.1399G>A | NP_002684.1:p.Ala467Thr | NC_000015.9:g.89870432C>T | OMIM Allelic Variant:174763.0002 | C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia; C1843852 Myoclonic epilepsy myopathy sensory ataxia; CN221 | | |
NM_002693.2(POLG):c.32G>A (p.Gly11Asp) | 5428 | POLG | Likely pathogenic;Pathogenic;Uncertain significance | 765472726 | RCV000175734; RCV000196524; | N | MedGen:C1843851,OMIM:607459,ORPHA:70595; MedGen:C1850303,OMIM:258450,ORPHA:254886; MedGen:CN221809 | 15 | 89876954 | 89876954 | NM_002693.2:c.32G>A | NP_002684.1:p.Gly11Asp | NC_000015.9:g.89876954C>T | - | C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia; CN221809 not provided; C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | |
NM_002693.2(POLG):c.32G>A (p.Gly11Asp) | 5428 | POLG | Likely pathogenic;Pathogenic;Uncertain significance | 765472726 | RCV000175734; RCV000196524; | N | MedGen:C1843851,OMIM:607459,ORPHA:70595; MedGen:C1850303,OMIM:258450,ORPHA:254886; MedGen:CN221809 | 15 | 89876954 | 89876954 | NM_002693.2:c.32G>A | NP_002684.1:p.Gly11Asp | NC_000015.9:g.89876954C>T | - | C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia; CN221809 not provided; C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | |