Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_001083614.1(EARS2):c.1547G>A (p.Arg516Gln) | 124454 | EARS2 | Pathogenic/Likely pathogenic | 201727231 | RCV000763375; RCV000254773; | N | MedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051; MedGen:CN517202 | 16 | 23535717 | 23535717 | | | | UniProtKB (protein):Q5JPH6#VAR_069247 | CN517202 not provided; | |
NM_001083614.1(EARS2):c.949G>T (p.Gly317Cys) | 124454 | EARS2 | Uncertain significance | 746838793 | RCV000286269; | N | MedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051 | 16 | 23546218 | 23546218 | | | | UniProtKB (protein):Q5JPH6#VAR_069245 | CN201731 Combined oxidative phosphorylation deficiency; | |
NM_001083614.1(EARS2):c.790C>G (p.Leu264Val) | 124454 | EARS2 | Uncertain significance | 1555503379 | RCV000625893; | N | MedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051 | 16 | 23546377 | 23546377 | | | | - | C3554079 614924 Combined oxidative phosphorylation deficiency 12; | |
NM_001083614.1(EARS2):c.610G>A (p.Gly204Ser) | 124454 | EARS2 | Pathogenic | 397514592 | RCV000033012; | N | MedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051 | 16 | 23546557 | 23546557 | | | | OMIM Allelic Variant:612799.0004,UniProtKB (protein):Q5JPH6#VAR_069243 | C3554079 614924 Combined oxidative phosphorylation deficiency 12; | |
NM_001083614.1(EARS2):c.502A>G (p.Arg168Gly) | 124454 | EARS2 | Pathogenic | 397514591 | RCV000033010; | N | MedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051 | 16 | 23546665 | 23546665 | | | | OMIM Allelic Variant:612799.0002,UniProtKB (protein):Q5JPH6#VAR_069242 | C3554079 614924 Combined oxidative phosphorylation deficiency 12; | |
NM_001083614.1(EARS2):c.500G>A (p.Cys167Tyr) | 124454 | EARS2 | Pathogenic | 397514594 | RCV000033014; | N | MedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051 | 16 | 23546667 | 23546667 | | | | OMIM Allelic Variant:612799.0006,UniProtKB (protein):Q5JPH6#VAR_069241 | C3554079 614924 Combined oxidative phosphorylation deficiency 12; | |
NM_001083614.1(EARS2):c.334G>C (p.Ala112Pro) | 124454 | EARS2 | not provided | 749048646 | RCV000509178; | N | MedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051 | 16 | 23555986 | 23555986 | | | | - | C3554079 614924 Combined oxidative phosphorylation deficiency 12; | |
NM_001083614.1(EARS2):c.328G>A (p.Gly110Ser) | 124454 | EARS2 | Pathogenic/Likely pathogenic | 201842633 | RCV000033011; RCV000624375; RCV000485250; | N | MedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051; MeSH:D030342,MedGen:C0950123; MedGen:CN517202 | 16 | 23555992 | 23555992 | | | | OMIM Allelic Variant:612799.0003,UniProtKB (protein):Q5JPH6#VAR_069240 | C3554079 614924 Combined oxidative phosphorylation deficiency 12; | |
NM_001083614.1(EARS2):c.322C>T (p.Arg108Trp) | 124454 | EARS2 | Conflicting interpretations of pathogenicity | 376103091 | RCV000626746; RCV000626746; RCV000033009; RCV000626746; RCV000626746; RCV000626746; RCV000622765; RCV000626746; RCV000626746; RCV000626746; RCV000626746; RCV000255688; | N | Human Phenotype Ontology:HP:0001999,MedGen:C0424503; Human Phenotype Ontology:HP:0000377,MedGen:C0857379; MedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051; Human Phenotype Ontology:HP:0002069,MedGen:C0494475; Human Phenotype Ontology:HP:0001263,MedGen:C0557 | 16 | 23555998 | 23555998 | | | | OMIM Allelic Variant:612799.0001,UniProtKB (protein):Q5JPH6#VAR_069239 | C0424503 Abnormal facial shape; | |
NM_001083614.1(EARS2):c.320G>A (p.Arg107His) | 124454 | EARS2 | Pathogenic/Likely pathogenic | 1021330566 | RCV000578413; RCV000522647; | N | MedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051; MedGen:CN517202 | 16 | 23556000 | 23556000 | | | | - | C3554079 614924 Combined oxidative phosphorylation deficiency 12; | |
NM_001083614.1(EARS2):c.286G>A (p.Glu96Lys) | 124454 | EARS2 | Pathogenic | 397514593 | RCV000033013; | N | MedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051 | 16 | 23563479 | 23563479 | | | | OMIM Allelic Variant:612799.0005,UniProtKB (protein):Q5JPH6#VAR_069237 | C3554079 614924 Combined oxidative phosphorylation deficiency 12; | |
NM_001083614.1(EARS2):c.193A>G (p.Lys65Glu) | 124454 | EARS2 | Pathogenic | 397514595 | RCV000033015; | N | MedGen:C3554079,OMIM:614924, Orphanet:ORPHA314051 | 16 | 23563572 | 23563572 | | | | OMIM Allelic Variant:612799.0007,UniProtKB (protein):Q5JPH6#VAR_069236 | C3554079 614924 Combined oxidative phosphorylation deficiency 12; | |