SCO2 (synthesis of cytochrome C oxidase 2) - Rat Genome Database

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Gene: SCO2 (synthesis of cytochrome C oxidase 2) Homo sapiens
Analyze
Symbol: SCO2
Name: synthesis of cytochrome C oxidase 2
RGD ID: 1347479
HGNC Page HGNC:10604
Description: Enables protein-disulfide reductase activity. Involved in eye development and mitochondrial cytochrome c oxidase assembly. Located in mitochondrial inner membrane and myofibril. Implicated in cytochrome-c oxidase deficiency disease; hypertrophic cardiomyopathy; mitochondrial complex IV deficiency nuclear type 2; and myopia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CEMCOX1; cytochrome oxidase deficient homolog 2; ECGF1; Gliostatin; MC4DN2; MGC125823; MGC125825; myopia 6; MYP6; PD-ECGF; Platelet-derived endothelial cell growth factor; protein SCO2 homolog, mitochondrial; SCO cytochrome c oxidase assembly protein 2; SCO cytochrome oxidase deficient homolog 2; SCO1L; TdRPase; Thymidine phosphorylase; TP; TYMP
RGD Orthologs
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382250,523,568 - 50,526,442 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2250,523,564 - 50,526,461 (-)Ensemblhg38GRCh38
GRCh372250,961,997 - 50,964,871 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362249,308,863 - 49,310,900 (-)NCBIBuild 36Build 36hg18NCBI36
Build 342249,252,142 - 49,254,116NCBI
Celera2234,838,024 - 34,840,895 (-)NCBICelera
Cytogenetic Map22q13.33NCBI
HuRef2233,853,015 - 33,855,886 (-)NCBIHuRef
CHM1_12250,920,734 - 50,923,605 (-)NCBICHM1_1
T2T-CHM13v2.02251,034,133 - 51,037,007 (-)NCBIT2T-CHM13v2.0
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
mitochondrial inner membrane  (IDA,IEA,TAS)
mitochondrion  (HTP,IDA,IEA,TAS)
myofibril  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal brainstem morphology  (IAGP)
Abnormal brainstem MRI signal intensity  (IAGP)
Abnormal calvaria morphology  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal circulating copper concentration  (IAGP)
Abnormal circulating creatine kinase concentration  (IAGP)
Abnormal corpus callosum morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal fundus morphology  (IAGP)
Abnormal periventricular white matter morphology  (IAGP)
Absent Achilles reflex  (IAGP)
Aminoaciduria  (IAGP)
Anemia  (IAGP)
Apathy  (IAGP)
Areflexia  (IAGP)
Ataxia  (IAGP)
Attenuation of retinal blood vessels  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Basal ganglia gliosis  (IAGP)
Bone spicule pigmentation of the retina  (IAGP)
Bradycardia  (IAGP)
Brain atrophy  (IAGP)
Brisk reflexes  (IAGP)
Cardiac arrest  (IAGP)
Cardiomegaly  (IAGP)
Cardiomyopathy  (IAGP)
Cardiorespiratory arrest  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar vermis atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Childhood onset  (IAGP)
Clumsiness  (IAGP)
Congenital onset  (IAGP)
Congestive heart failure  (IAGP)
Constriction of peripheral visual field  (IAGP)
Cytochrome C oxidase-negative muscle fibers  (IAGP)
Death in childhood  (IAGP)
Death in infancy  (IAGP)
Decreased activity of mitochondrial complex IV  (IAGP)
Decreased liver function  (IAGP)
Decreased total neutrophil count  (IAGP)
Delayed CNS myelination  (IAGP)
Delayed gross motor development  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Diffuse white matter abnormalities  (IAGP)
Distal amyotrophy  (IAGP)
Distal lower limb amyotrophy  (IAGP)
Dolichocephaly  (IAGP)
Dysarthria  (IAGP)
Dysmetria  (IAGP)
Dyspnea  (IAGP)
Elevated lactate:pyruvate ratio  (IAGP)
EMG: chronic denervation signs  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Encephalopathy  (IAGP)
Exercise intolerance  (IAGP)
Exertional dyspnea  (IAGP)
Exotropia  (IAGP)
Facial diplegia  (IAGP)
Facial-lingual fasciculations  (IAGP)
Failure to thrive  (IAGP)
Fasciculations  (IAGP)
Feeding difficulties  (IAGP)
Focal cortical dysplasia  (IAGP)
Focal T2 hyperintense basal ganglia lesion  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Frequent falls  (IAGP)
Gait ataxia  (IAGP)
Generalized hypotonia  (IAGP)
Generalized limb muscle atrophy  (IAGP)
Gliosis  (IAGP)
Global developmental delay  (IAGP)
Glycosuria  (IAGP)
Hand muscle atrophy  (IAGP)
Hearing impairment  (IAGP)
Heart murmur  (IAGP)
Hemeralopia  (IAGP)
Hepatomegaly  (IAGP)
High myopia  (IAGP)
High palate  (IAGP)
Hyperphosphaturia  (IAGP)
Hypertonia  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypoplastic toenails  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Impaired vibration sensation in the lower limbs  (IAGP)
Impaired vibratory sensation  (IAGP)
Increased axial length of the globe  (IAGP)
Increased circulating lactate concentration  (IAGP)
Increased circulating pyruvate concentration  (IAGP)
Increased CSF lactate  (IAGP)
Increased hepatocellular lipid droplets  (IAGP)
Increased intramyocellular lipid droplets  (IAGP)
Increased variability in muscle fiber diameter  (IAGP)
Infantile onset  (IAGP)
Inspiratory stridor  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Irregular respiration  (IAGP)
Jaundice  (IAGP)
Juvenile onset  (IAGP)
Lactic acidosis  (IAGP)
Lacticaciduria  (IAGP)
Lethargy  (IAGP)
Leukoencephalopathy  (IAGP)
Limb dystonia  (IAGP)
Limb hypertonia  (IAGP)
Limited ankle dorsiflexion  (IAGP)
Limited extraocular movements  (IAGP)
Loss of ambulation  (IAGP)
Low-set ears  (IAGP)
Lower limb muscle weakness  (IAGP)
Lower limb pain  (IAGP)
Malignant hyperthermia  (IAGP)
Memory impairment  (IAGP)
Metabolic acidosis  (IAGP)
Microcephaly  (IAGP)
Microretrognathia  (IAGP)
Middle age onset  (IAGP)
Mitochondrial inheritance  (IAGP)
Mixed demyelinating and axonal polyneuropathy  (IAGP)
Motor axonal neuropathy  (IAGP)
Motor delay  (IAGP)
Motor polyneuropathy  (IAGP)
Muscle weakness  (IAGP)
Myoclonus  (IAGP)
Myofiber disarray  (IAGP)
Myopathy  (IAGP)
Myopia  (IAGP)
Neonatal onset  (IAGP)
Neuronal loss in basal ganglia  (IAGP)
Neuronal loss in central nervous system  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Ophthalmoparesis  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peripheral neuropathy  (IAGP)
Persistent fever  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Pigmentary retinopathy  (IAGP)
Positive Romberg sign  (IAGP)
Proteinuria  (IAGP)
Ptosis  (IAGP)
Reduced visual acuity  (IAGP)
Renal Fanconi syndrome  (IAGP)
Renal tubular dysfunction  (IAGP)
Respiratory distress  (IAGP)
Respiratory failure  (IAGP)
Respiratory failure requiring assisted ventilation  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Right ventricular hypertrophy  (IAGP)
Rod-cone dystrophy  (IAGP)
Scotoma  (IAGP)
Seizure  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Skeletal muscle atrophy  (IAGP)
Steppage gait  (IAGP)
Strabismus  (IAGP)
Stridor  (IAGP)
Tachypnea  (IAGP)
Tremor  (IAGP)
Truncal ataxia  (IAGP)
Undetectable light- and dark-adapted electroretinogram  (IAGP)
Upper limb hypertonia  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Vocal cord paralysis  (IAGP)
Weakness of facial musculature  (IAGP)
Wide nasal bridge  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. Jaksch M, etal., Hum Mol Genet. 2000 Mar 22;9(5):795-801.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10218584   PMID:10493829   PMID:10545952   PMID:11673586   PMID:11751685   PMID:11931660   PMID:12020273   PMID:12477932   PMID:12529303   PMID:12538779   PMID:14994243   PMID:15146197  
PMID:15229189   PMID:15273935   PMID:15461802   PMID:15489334   PMID:16083427   PMID:16091356   PMID:16341674   PMID:16728594   PMID:17189203   PMID:17850752   PMID:18254779   PMID:18332255  
PMID:18924171   PMID:19336478   PMID:19353431   PMID:19879173   PMID:19913121   PMID:20139978   PMID:20193760   PMID:20301590   PMID:20628086   PMID:20864674   PMID:21145461   PMID:21150319  
PMID:21820150   PMID:21832049   PMID:21833088   PMID:21873635   PMID:21925769   PMID:22120717   PMID:22939629   PMID:23222517   PMID:23319048   PMID:23364397   PMID:23443559   PMID:23455922  
PMID:23612020   PMID:23643385   PMID:23786650   PMID:24403053   PMID:25476789   PMID:25525168   PMID:25720770   PMID:25959673   PMID:26309161   PMID:26351686   PMID:26425749   PMID:26496610  
PMID:26638075   PMID:26676373   PMID:26700591   PMID:26972000   PMID:27052445   PMID:27432908   PMID:27499152   PMID:27499296   PMID:28330616   PMID:28330871   PMID:28380382   PMID:28675297  
PMID:29154948   PMID:29381136   PMID:29509190   PMID:29568061   PMID:29634976   PMID:29676528   PMID:30022168   PMID:30572598   PMID:30833792   PMID:31073040   PMID:31091453   PMID:31617381  
PMID:31617661   PMID:31723608   PMID:31753913   PMID:32060556   PMID:32296183   PMID:32393512   PMID:32694731   PMID:32707033   PMID:32877691   PMID:32989298   PMID:33499712   PMID:33637726  
PMID:33711283   PMID:33742100   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34349018   PMID:34369624   PMID:34709727   PMID:34800366   PMID:35384245   PMID:35563538   PMID:35944360  
PMID:36114006   PMID:36572190   PMID:36597993   PMID:36629882   PMID:36758106   PMID:37314216   PMID:37317656   PMID:37632749   PMID:37667382   PMID:37827155   PMID:37863970   PMID:38113892  
PMID:40355756  


Genomics

Comparative Map Data
SCO2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382250,523,568 - 50,526,442 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2250,523,564 - 50,526,461 (-)Ensemblhg38GRCh38
GRCh372250,961,997 - 50,964,871 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362249,308,863 - 49,310,900 (-)NCBIBuild 36Build 36hg18NCBI36
Build 342249,252,142 - 49,254,116NCBI
Celera2234,838,024 - 34,840,895 (-)NCBICelera
Cytogenetic Map22q13.33NCBI
HuRef2233,853,015 - 33,855,886 (-)NCBIHuRef
CHM1_12250,920,734 - 50,923,605 (-)NCBICHM1_1
T2T-CHM13v2.02251,034,133 - 51,037,007 (-)NCBIT2T-CHM13v2.0
Sco2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391589,255,833 - 89,258,094 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1589,255,840 - 89,258,049 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm381589,371,630 - 89,373,891 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1589,371,637 - 89,373,846 (-)Ensemblmm10GRCm38
MGSCv371589,202,068 - 89,204,249 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
Celera1591,500,778 - 91,502,959 (-)NCBICelera
Cytogenetic Map15E3NCBI
cM Map1544.85NCBI
LOC106146232
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541333,503,882 - 33,505,417 (-)NCBIChiLan1.0ChiLan1.0
LOC100976808
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22360,443,429 - 60,444,452 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12263,134,243 - 63,135,270 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02230,769,899 - 30,772,008 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12249,879,824 - 49,881,834 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2249,879,867 - 49,880,667 (-)EnsemblpanPan2panpan1.1
SCO2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11016,783,116 - 16,790,011 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1016,788,287 - 16,790,247 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1016,760,885 - 16,767,714 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01017,509,646 - 17,516,477 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
UMICH_Zoey_3.11017,233,936 - 17,240,764 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01017,557,049 - 17,563,783 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01017,689,178 - 17,696,008 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
LOC101962609
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945319,260 - 320,804 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936629318,581 - 320,795 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_004936629318,581 - 320,804 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SCO2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl5220,814 - 225,307 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.15220,801 - 222,678 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.25110,557,622 - 110,559,499 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SCO2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11932,995,153 - 32,997,249 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1932,995,196 - 32,995,996 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366604592,345,404 - 92,347,449 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
LOC106007592
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624752256,376 - 257,825 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_004624752256,243 - 257,829 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
LOC116915068
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v11258,670,841 - 258,672,849 (-)NCBIRrattus_CSIRO_v1

Variants

.
Variants in SCO2
780 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005138.3(SCO2):c.222_223delinsGG (p.Trp75Gly) indel not provided [RCV002726183] Chr22:50524189..50524190 [GRCh38]
Chr22:50962618..50962619 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.179_188dup (p.Ile63fs) duplication Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV000006037] Chr22:50524223..50524224 [GRCh38]
Chr22:50962652..50962653 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1275C>A (p.Val425=) single nucleotide variant not provided [RCV001495063] Chr22:50526026 [GRCh38]
Chr22:50964455 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1160-1G>C single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000018138] Chr22:50526142 [GRCh38]
Chr22:50964571 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.157C>T (p.Gln53Ter) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV000006032]|Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV005031394]|Myopia 6 [RCV000043618]|not provided [RCV001390766] Chr22:50524255 [GRCh38]
Chr22:50962684 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.674C>T (p.Ser225Phe) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV000006033] Chr22:50523738 [GRCh38]
Chr22:50962167 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.511C>T (p.Arg171Trp) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV000006034]|not provided [RCV001851687] Chr22:50523901 [GRCh38]
Chr22:50962330 [GRCh37]
Chr22:22q13.33		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV000006035]|Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV005031395]|Myopia 6 [RCV000043619]|SCO2-related disorder [RCV004752685]|Seizure [RCV000626777]|Tip-toe gait [RCV001610286]|not provided [RCV000198477] Chr22:50523994 [GRCh38]
Chr22:50962423 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic|no classifications from unflagged records
NM_005138.3(SCO2):c.268C>T (p.Arg90Ter) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV000006036]|Myopia 6 [RCV001650831]|not provided [RCV001851688] Chr22:50524144 [GRCh38]
Chr22:50962573 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
NM_005138.3(SCO2):c.398G>A (p.Cys133Tyr) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV000006038] Chr22:50524014 [GRCh38]
Chr22:50962443 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.107G>A (p.Trp36Ter) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV000006039] Chr22:50524305 [GRCh38]
Chr22:50962734 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.406A>C (p.Ile136Leu) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001196853]|not provided [RCV001863111] Chr22:50524006 [GRCh38]
Chr22:50962435 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.341G>A (p.Arg114His) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001149870]|Inborn genetic diseases [RCV002513637]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001149871]|Myopia 6 [RCV000043620]|not provided [RCV000872109] Chr22:50524071 [GRCh38]
Chr22:50962500 [GRCh37]
Chr22:22q13.33		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1 copy number loss See cases [RCV000050935] Chr22:45239376..50739836 [GRCh38]
Chr22:45635257..51178264 [GRCh37]
Chr22:44013921..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47705262-50739836)x1 copy number loss See cases [RCV000050848] Chr22:47705262..50739836 [GRCh38]
Chr22:48101011..51178264 [GRCh37]
Chr22:46479675..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] Chr22:42138114..50739836 [GRCh38]
Chr22:42513525..51178264 [GRCh37]
Chr22:40843471..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 copy number loss See cases [RCV000051371] Chr22:42433752..50738932 [GRCh38]
Chr22:42829758..51177360 [GRCh37]
Chr22:41159702..49524226 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1 copy number loss See cases [RCV000051407] Chr22:42826246..50739836 [GRCh38]
Chr22:43222252..51178264 [GRCh37]
Chr22:41552196..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1 copy number loss See cases [RCV000051408] Chr22:43807366..50739836 [GRCh38]
Chr22:44203246..51178264 [GRCh37]
Chr22:42534579..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1 copy number loss See cases [RCV000051409] Chr22:43993654..50739977 [GRCh38]
Chr22:44389534..51178405 [GRCh37]
Chr22:42720867..49525271 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1 copy number loss See cases [RCV000051410] Chr22:44740175..50739836 [GRCh38]
Chr22:45136055..51178264 [GRCh37]
Chr22:43514719..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1 copy number loss See cases [RCV000051411] Chr22:45648256..50739836 [GRCh38]
Chr22:46044136..51178264 [GRCh37]
Chr22:44422800..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47122613-50739836)x1 copy number loss See cases [RCV000051412] Chr22:47122613..50739836 [GRCh38]
Chr22:47518509..51178264 [GRCh37]
Chr22:45897173..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47234701-50739836)x1 copy number loss See cases [RCV000051413] Chr22:47234701..50739836 [GRCh38]
Chr22:47630451..51178264 [GRCh37]
Chr22:46009115..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1 copy number loss See cases [RCV000051440] Chr22:48138038..50739836 [GRCh38]
Chr22:48533855..51178264 [GRCh37]
Chr22:46912519..49525130 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48423668-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|See cases [RCV000051441] Chr22:48423668..50739836 [GRCh38]
Chr22:48819480..51178264 [GRCh37]
Chr22:47198144..49525130 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48654672-50739836)x1 copy number loss See cases [RCV000051442] Chr22:48654672..50739836 [GRCh38]
Chr22:49050484..51178264 [GRCh37]
Chr22:47436920..49525130 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1 copy number loss See cases [RCV000051443] Chr22:49395349..50738932 [GRCh38]
Chr22:49788999..51177360 [GRCh37]
Chr22:48175003..49524226 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1 copy number loss See cases [RCV000051098] Chr22:46065705..50739836 [GRCh38]
Chr22:46461585..51178264 [GRCh37]
Chr22:44840249..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 copy number gain See cases [RCV000051686] Chr22:42599757..50725241 [GRCh38]
Chr22:42995763..51163669 [GRCh37]
Chr22:41325707..49510535 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3 copy number gain See cases [RCV000051687] Chr22:42653747..50739836 [GRCh38]
Chr22:43049753..51178264 [GRCh37]
Chr22:41379697..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|See cases [RCV000051688] Chr22:44700812..50739836 [GRCh38]
Chr22:45096692..51178264 [GRCh37]
Chr22:43475356..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3 copy number gain See cases [RCV000051689] Chr22:44811200..50739836 [GRCh38]
Chr22:45207080..51178264 [GRCh37]
Chr22:43585744..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:50368887-50599372)x3 copy number gain See cases [RCV000052894] Chr22:50368887..50599372 [GRCh38]
Chr22:50807316..51037801 [GRCh37]
Chr22:49154182..49384667 [NCBI36]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000323507]|Mitochondrial DNA depletion syndrome 1 [RCV000403000]|Spinal muscular atrophy [RCV001274279]|not provided [RCV000676456]|not specified [RCV000118807] Chr22:50525807 [GRCh38]
Chr22:50964236 [GRCh37]
Chr22:22q13.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001953.5(TYMP):c.972C>T (p.Ala324=) single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000278985]|Mitochondrial DNA depletion syndrome 1 [RCV000279726]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000338776]|Spinal muscular atrophy [RCV001276275]|not provided [RCV000676461]|not specified [RCV000118808] Chr22:50526433 [GRCh38]
Chr22:50964862 [GRCh37]
Chr22:22q13.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001953.5(TYMP):c.1074A>G (p.Arg358=) single nucleotide variant not provided [RCV000676460]|not specified [RCV000126201] Chr22:50526331 [GRCh38]
Chr22:50964760 [GRCh37]
Chr22:22q13.33		 benign|likely benign
NM_001953.5(TYMP):c.1159+12G>A single nucleotide variant not provided [RCV002055632]|not specified [RCV000126202] Chr22:50526234 [GRCh38]
Chr22:50964663 [GRCh37]
Chr22:22q13.33		 benign
NM_001953.5(TYMP):c.1284T>A (p.Gly428=) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV000403230]|Mitochondrial DNA depletion syndrome 1 [RCV000297818]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000360806]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001274281]|not provided [RCV000676458]|not specified [RCV000126203] Chr22:50526017 [GRCh38]
Chr22:50964446 [GRCh37]
Chr22:22q13.33		 benign
NM_001953.5(TYMP):c.1290G>A (p.Arg430=) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001831922]|not provided [RCV000727125]|not specified [RCV000126204] Chr22:50526011 [GRCh38]
Chr22:50964440 [GRCh37]
Chr22:22q13.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000373441]|Mitochondrial DNA depletion syndrome 1 [RCV000306032]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001274280]|TYMP-related disorder [RCV003975113]|not provided [RCV000676457]|not specified [RCV000126205] Chr22:50525826 [GRCh38]
Chr22:50964255 [GRCh37]
Chr22:22q13.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005138.3(SCO2):c.-18G>A single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001148414]|Fatal Infantile Cardioencephalomyopathy [RCV000402865]|Mitochondrial DNA depletion syndrome 1 [RCV000321673]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000313637]|not provided [RCV004713352]|not specified [RCV000128011] Chr22:50525476 [GRCh38]
Chr22:50963905 [GRCh37]
Chr22:22q13.33		 benign
NM_005138.3(SCO2):c.59G>C (p.Arg20Pro) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001148413]|Fatal Infantile Cardioencephalomyopathy [RCV000374348]|Mitochondrial DNA depletion syndrome 1 [RCV000271220]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000338357]|Myopia 6 [RCV001807081]|not provided [RCV000676291]|not specified [RCV000128012] Chr22:50524353 [GRCh38]
Chr22:50962782 [GRCh37]
Chr22:22q13.33		 benign
NM_005138.3(SCO2):c.201C>T (p.Phe67=) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV000324221]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000264422]|not provided [RCV000416073]|not specified [RCV000128013] Chr22:50524211 [GRCh38]
Chr22:50962640 [GRCh37]
Chr22:22q13.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005138.3(SCO2):c.327C>T (p.His109=) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001149872]|Fatal Infantile Cardioencephalomyopathy [RCV000370305]|Mitochondrial DNA depletion syndrome 1 [RCV000365573]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000310916]|not provided [RCV000676290]|not specified [RCV000128014] Chr22:50524085 [GRCh38]
Chr22:50962514 [GRCh37]
Chr22:22q13.33		 benign|likely benign
NM_005138.3(SCO2):c.582C>T (p.Ser194=) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001148306]|Fatal Infantile Cardioencephalomyopathy [RCV000406575]|Mitochondrial DNA depletion syndrome 1 [RCV000324968]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000336884]|not provided [RCV000676289]|not specified [RCV000128015] Chr22:50523830 [GRCh38]
Chr22:50962259 [GRCh37]
Chr22:22q13.33		 benign|likely benign
NM_005138.3(SCO2):c.633A>C (p.Ala211=) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001148305]|Fatal Infantile Cardioencephalomyopathy [RCV000404245]|Mitochondrial DNA depletion syndrome 1 [RCV000269901]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000300513]|Myopia 6 [RCV001807082]|not provided [RCV000676288]|not specified [RCV000128016] Chr22:50523779 [GRCh38]
Chr22:50962208 [GRCh37]
Chr22:22q13.33		 benign
NM_005138.3(SCO2):c.763C>A (p.Arg255=) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001145437]|Fatal Infantile Cardioencephalomyopathy [RCV000380439]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000339909]|not provided [RCV000676287]|not specified [RCV000128017] Chr22:50523649 [GRCh38]
Chr22:50962078 [GRCh37]
Chr22:22q13.33		 benign|likely benign|uncertain significance
NM_005138.3(SCO2):c.776C>T (p.Ala259Val) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001145436]|Fatal Infantile Cardioencephalomyopathy [RCV000383650]|Mitochondrial DNA depletion syndrome 1 [RCV000369274]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000284953]|not provided [RCV000431453] Chr22:50523636 [GRCh38]
Chr22:50962065 [GRCh37]
Chr22:22q13.33		 benign|likely benign
NM_005138.3(SCO2):c.227_230del (p.Leu76fs) microsatellite Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV003110139]|not provided [RCV003699027] Chr22:50524182..50524185 [GRCh38]
Chr22:50962611..50962614 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
NM_005138.3(SCO2):c.763C>T (p.Arg255Trp) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV003110141]|Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV005036645]|not provided [RCV003140236] Chr22:50523649 [GRCh38]
Chr22:50962078 [GRCh37]
Chr22:22q13.33		 likely pathogenic|uncertain significance
NM_001953.5(TYMP):c.1410dup (p.Ser471fs) duplication Mitochondrial DNA depletion syndrome 1 [RCV000018137] Chr22:50525808..50525809 [GRCh38]
Chr22:50964237..50964238 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1187CGCTGG[1] (p.Ala398_Leu399del) microsatellite Mitochondrial DNA depletion syndrome 1 [RCV000018139] Chr22:50526103..50526108 [GRCh38]
Chr22:50964532..50964537 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
NM_001953.5(TYMP):c.994_1011dup (p.Gly337_Ser338insAlaAlaLeuAspAspGly) duplication Mitochondrial DNA depletion syndrome 1 [RCV000208647] Chr22:50526393..50526394 [GRCh38]
Chr22:50964822..50964823 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.966T>C (p.Thr322=) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208715] Chr22:50526439 [GRCh38]
Chr22:50964868 [GRCh37]
Chr22:22q13.33		 benign
GRCh38/hg38 22q13.33(chr22:49378128-50739836)x1 copy number loss See cases [RCV000133859] Chr22:49378128..50739836 [GRCh38]
Chr22:49774048..51178264 [GRCh37]
Chr22:48160052..49525130 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1 copy number loss See cases [RCV000133865] Chr22:44606363..50739836 [GRCh38]
Chr22:45002243..51178264 [GRCh37]
Chr22:43380907..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49315518-50739836)x1 copy number loss See cases [RCV000133707] Chr22:49315518..50739836 [GRCh38]
Chr22:49711443..51178264 [GRCh37]
Chr22:48097447..49525130 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49504768-50780581)x1 copy number loss See cases [RCV000135691] Chr22:49504768..50780581 [GRCh38]
Chr22:49898417..51203353 [GRCh37]
Chr22:48284421..49565875 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1 copy number loss See cases [RCV000135444] Chr22:43902561..50739836 [GRCh38]
Chr22:44298441..51178264 [GRCh37]
Chr22:42629774..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46919818-50739836)x1 copy number loss See cases [RCV000135615] Chr22:46919818..50739836 [GRCh38]
Chr22:47315714..51178264 [GRCh37]
Chr22:45694378..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:50055303-50677724)x3 copy number gain See cases [RCV000136106] Chr22:50055303..50677724 [GRCh38]
Chr22:50493732..51116152 [GRCh37]
Chr22:48835859..49463018 [NCBI36]
Chr22:22q13.33		 uncertain significance
GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3 copy number gain See cases [RCV000136573] Chr22:44797239..50739836 [GRCh38]
Chr22:45193119..51178264 [GRCh37]
Chr22:43571783..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3 copy number gain See cases [RCV000136124] Chr22:43992879..50683114 [GRCh38]
Chr22:44388759..51121542 [GRCh37]
Chr22:42720092..49468408 [NCBI36]
Chr22:22q13.31-13.33		 benign
GRCh38/hg38 22q13.33(chr22:50274967-50739836)x3 copy number gain See cases [RCV000136874] Chr22:50274967..50739836 [GRCh38]
Chr22:50713396..51178264 [GRCh37]
Chr22:49055523..49525130 [NCBI36]
Chr22:22q13.33		 benign
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48614336-50739836)x1 copy number loss See cases [RCV000136941] Chr22:48614336..50739836 [GRCh38]
Chr22:49010148..51178264 [GRCh37]
Chr22:47396711..49525130 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3 copy number gain See cases [RCV000137136] Chr22:42710276..50739836 [GRCh38]
Chr22:43106282..51178264 [GRCh37]
Chr22:41436226..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1 copy number loss See cases [RCV000136894] Chr22:44764289..50739836 [GRCh38]
Chr22:45160169..51178264 [GRCh37]
Chr22:43538833..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48500344-50780581)x1 copy number loss See cases [RCV000137377] Chr22:48500344..50780581 [GRCh38]
Chr22:48896156..51203353 [GRCh37]
Chr22:47274820..49565875 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1 copy number loss See cases [RCV000140089] Chr22:50149563..50780522 [GRCh38]
Chr22:50587992..51218950 [GRCh37]
Chr22:48930119..49565816 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49535113-50780581)x1 copy number loss See cases [RCV000139655] Chr22:49535113..50780581 [GRCh38]
Chr22:49928762..51203353 [GRCh37]
Chr22:48314766..49565875 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1 copy number loss See cases [RCV000141415] Chr22:42837094..50735806 [GRCh38]
Chr22:43233100..51174234 [GRCh37]
Chr22:41563044..49521100 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1 copy number loss See cases [RCV000140901] Chr22:43187980..50745444 [GRCh38]
Chr22:43583986..51183872 [GRCh37]
Chr22:41913930..49530738 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1 copy number loss See cases [RCV000140772] Chr22:46732445..50780522 [GRCh38]
Chr22:47128342..51218950 [GRCh37]
Chr22:45507006..49565816 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 copy number gain See cases [RCV000141659] Chr22:42380961..50759410 [GRCh38]
Chr22:42776967..51197838 [GRCh37]
Chr22:41106911..49544704 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:50485457-50759410)x1 copy number loss See cases [RCV000142303] Chr22:50485457..50759410 [GRCh38]
Chr22:50923886..51197838 [GRCh37]
Chr22:49270752..49544704 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 copy number gain See cases [RCV000142755] Chr22:42080077..50739836 [GRCh38]
Chr22:42476081..51178264 [GRCh37]
Chr22:40806027..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48241375-50739836)x1 copy number loss See cases [RCV000142589] Chr22:48241375..50739836 [GRCh38]
Chr22:48637187..51178264 [GRCh37]
Chr22:47015851..49525130 [NCBI36]
Chr22:22q13.32-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:49529760-50759410)x1 copy number loss See cases [RCV000143708] Chr22:49529760..50759410 [GRCh38]
Chr22:49923409..51197838 [GRCh37]
Chr22:48309413..49544704 [NCBI36]
Chr22:22q13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46361165-50759299)x1 copy number loss See cases [RCV000143487] Chr22:46361165..50759299 [GRCh38]
Chr22:46757062..51197727 [GRCh37]
Chr22:45135726..49544593 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.33(chr22:50368887-50599372)x3 copy number gain See cases [RCV000148204] Chr22:50368887..50599372 [GRCh38]
Chr22:50807316..51037801 [GRCh37]
Chr22:49154182..49384667 [NCBI36]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759) copy number loss not provided [RCV000767746] Chr22:45075720..51181759 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_005138.3(SCO2):c.283C>T (p.Arg95Cys) single nucleotide variant not provided [RCV001971786] Chr22:50524129 [GRCh38]
Chr22:50962558 [GRCh37]
Chr22:22q13.33		 likely pathogenic|uncertain significance
NM_001953.5(TYMP):c.1219G>C (p.Gly407Arg) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001828034]|not provided [RCV000197532] Chr22:50526082 [GRCh38]
Chr22:50964511 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.378G>A (p.Met126Ile) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV000765657]|not provided [RCV000197726] Chr22:50524034 [GRCh38]
Chr22:50962463 [GRCh37]
Chr22:22q13.33		 likely benign|uncertain significance
NM_005138.3(SCO2):c.535C>T (p.Arg179Cys) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001149868]|Inborn genetic diseases [RCV002517259]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001149869]|not provided [RCV000197926] Chr22:50523877 [GRCh38]
Chr22:50962306 [GRCh37]
Chr22:22q13.33		 likely pathogenic|uncertain significance
NM_001953.5(TYMP):c.1170G>C (p.Glu390Asp) single nucleotide variant not provided [RCV001853205]|not specified [RCV000198365] Chr22:50526131 [GRCh38]
Chr22:50964560 [GRCh37]
Chr22:22q13.33		 likely pathogenic|likely benign|uncertain significance
NM_001953.5(TYMP):c.1439C>G (p.Pro480Arg) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001274278]|not provided [RCV000198490] Chr22:50525780 [GRCh38]
Chr22:50964209 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.*3C>T single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000344723]|Mitochondrial DNA depletion syndrome 1 [RCV001145762]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000392548]|not specified [RCV000126207] Chr22:50525767 [GRCh38]
Chr22:50964196 [GRCh37]
Chr22:22q13.33		 benign|uncertain significance
NM_001953.5(TYMP):c.*10G>A single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000388646]|Mitochondrial DNA depletion syndrome 1 [RCV000289696]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000334196]|not specified [RCV000126208] Chr22:50525760 [GRCh38]
Chr22:50964189 [GRCh37]
Chr22:22q13.33		 benign|uncertain significance
NM_001953.5(TYMP):c.1087G>A (p.Gly363Arg) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001833159]|not provided [RCV000199261] Chr22:50526318 [GRCh38]
Chr22:50964747 [GRCh37]
Chr22:22q13.33		 likely pathogenic|uncertain significance
NM_005138.3(SCO2):c.116C>T (p.Ser39Leu) single nucleotide variant Inborn genetic diseases [RCV004020422]|not provided [RCV002517258]|not specified [RCV000195842] Chr22:50524296 [GRCh38]
Chr22:50962725 [GRCh37]
Chr22:22q13.33		 likely pathogenic|likely benign|uncertain significance
NM_005138.2(SCO2):c.707T>C (p.Leu236Pro) single nucleotide variant not provided [RCV000199522] Chr22:50523705 [GRCh38]
Chr22:50962134 [GRCh37]
Chr22:22q13.33		 likely pathogenic
NM_005138.3(SCO2):c.527C>T (p.Ala176Val) single nucleotide variant Inborn genetic diseases [RCV004020423]|not provided [RCV001705133] Chr22:50523885 [GRCh38]
Chr22:50962314 [GRCh37]
Chr22:22q13.33		 likely benign|uncertain significance
NM_001953.5(TYMP):c.1219G>A (p.Gly407Arg) single nucleotide variant not provided [RCV000196011] Chr22:50526082 [GRCh38]
Chr22:50964511 [GRCh37]
Chr22:22q13.33		 likely pathogenic
NM_005138.3(SCO2):c.764G>A (p.Arg255Gln) single nucleotide variant not provided [RCV001857734] Chr22:50523648 [GRCh38]
Chr22:50962077 [GRCh37]
Chr22:22q13.33		 likely pathogenic|likely benign|uncertain significance
NM_001953.5(TYMP):c.1127G>A (p.Arg376Gln) single nucleotide variant not provided [RCV000419757] Chr22:50526278 [GRCh38]
Chr22:50964707 [GRCh37]
Chr22:22q13.33		 benign|likely benign
NM_005138.3(SCO2):c.517G>A (p.Asp173Asn) single nucleotide variant Inborn genetic diseases [RCV004658987]|not provided [RCV000199680] Chr22:50523895 [GRCh38]
Chr22:50962324 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1321C>T (p.His441Tyr) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001833160]|not provided [RCV000199736] Chr22:50525898 [GRCh38]
Chr22:50964327 [GRCh37]
Chr22:22q13.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_001953.5(TYMP):c.1159+5G>A single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000672181]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001828035]|not provided [RCV000196301]|not specified [RCV004700593] Chr22:50526241 [GRCh38]
Chr22:50964670 [GRCh37]
Chr22:22q13.33		 likely pathogenic|uncertain significance
NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6fs) insertion Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV002288836]|Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV005031781]|Primary dilated cardiomyopathy [RCV000208004]|not provided [RCV001781624] Chr22:50524395..50524396 [GRCh38]
Chr22:50962824..50962825 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
GRCh37/hg19 22q13.33(chr22:50964500-51016275)x3 copy number gain Breast ductal adenocarcinoma [RCV000207317] Chr22:50964500..51016275 [GRCh37]
Chr22:22q13.33		 uncertain significance
Single allele deletion Autism spectrum disorder [RCV000208741] Chr22:49033233..51193680 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
Single allele deletion Autism spectrum disorder [RCV000208731] Chr22:50282986..51304566 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_001953.5(TYMP):c.1308dup (p.Trp437fs) duplication Mitochondrial DNA depletion syndrome 1 [RCV000669866] Chr22:50525910..50525911 [GRCh38]
Chr22:50964339..50964340 [GRCh37]
Chr22:22q13.33		 likely pathogenic
NM_005138.3(SCO2):c.597C>A (p.Ala199=) single nucleotide variant not specified [RCV000604674] Chr22:50523815 [GRCh38]
Chr22:50962244 [GRCh37]
Chr22:22q13.33		 likely benign
GRCh37/hg19 22q13.33(chr22:50922386-51205985)x1 copy number loss See cases [RCV000240423] Chr22:50922386..51205985 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33		 pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33		 pathogenic
NM_005138.3(SCO2):c.738G>C (p.Ser246=) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV000285975]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000336339]|SCO2-related disorder [RCV003910345]|not provided [RCV000870745] Chr22:50523674 [GRCh38]
Chr22:50962103 [GRCh37]
Chr22:22q13.33		 likely benign|uncertain significance
NM_001953.5(TYMP):c.1176C>T (p.Val392=) single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000355404]|Mitochondrial DNA depletion syndrome 1 [RCV001148523]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000274675]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272324]|not provided [RCV000916747] Chr22:50526125 [GRCh38]
Chr22:50964554 [GRCh37]
Chr22:22q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005138.3(SCO2):c.244A>G (p.Lys82Glu) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV000362533]|Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV002488735]|Inborn genetic diseases [RCV005268599]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000272600]|not provided [RCV001850821] Chr22:50524168 [GRCh38]
Chr22:50962597 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1147G>A (p.Ala383Thr) single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000370522]|Mitochondrial DNA depletion syndrome 1 [RCV000275945]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000329849] Chr22:50526258 [GRCh38]
Chr22:50964687 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.162C>T (p.Gly54=) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV000378912]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000279757]|not provided [RCV002057811] Chr22:50524250 [GRCh38]
Chr22:50962679 [GRCh37]
Chr22:22q13.33		 likely benign|uncertain significance
NM_001953.5(TYMP):c.1028T>G (p.Phe343Cys) single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000377624]|Mitochondrial DNA depletion syndrome 1 [RCV001148526]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000283127]|TYMP-related disorder [RCV003957767]|not provided [RCV001478639] Chr22:50526377 [GRCh38]
Chr22:50964806 [GRCh37]
Chr22:22q13.33		 likely benign|uncertain significance
NM_005138.3(SCO2):c.697C>G (p.Pro233Ala) single nucleotide variant not provided [RCV000385463] Chr22:50523715 [GRCh38]
Chr22:50962144 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1137G>A (p.Glu379=) single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000380883]|Mitochondrial DNA depletion syndrome 1 [RCV001148524]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000326267]|not provided [RCV001436435] Chr22:50526268 [GRCh38]
Chr22:50964697 [GRCh37]
Chr22:22q13.33		 likely benign|uncertain significance
NM_005138.3(SCO2):c.237G>A (p.Arg79=) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001145535]|Fatal Infantile Cardioencephalomyopathy [RCV000327533]|Mitochondrial DNA depletion syndrome 1 [RCV001145536]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000377551]|not provided [RCV000875350] Chr22:50524175 [GRCh38]
Chr22:50962604 [GRCh37]
Chr22:22q13.33		 likely benign|uncertain significance
NM_005138.3(SCO2):c.276A>G (p.Glu92=) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV000307590]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000275865] Chr22:50524136 [GRCh38]
Chr22:50962565 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1443G>A (p.Gln481=) single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000290856]|Mitochondrial DNA depletion syndrome 1 [RCV001145763]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000341121]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272319]|TYMP-related disorder [RCV004752866]|not provided [RCV000676455] Chr22:50525776 [GRCh38]
Chr22:50964205 [GRCh37]
Chr22:22q13.33		 likely benign|uncertain significance
NM_005138.3(SCO2):c.-83A>G single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV000265362]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000301806] Chr22:50525541 [GRCh38]
Chr22:50963970 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.4C>G (p.Leu2Val) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV000348680]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000293784] Chr22:50524408 [GRCh38]
Chr22:50962837 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001169109.2(SCO2):c.-14+505G>A single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000293110]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000387314]|not provided [RCV004694690] Chr22:50525741 [GRCh38]
Chr22:50964170 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.995C>T (p.Ala332Val) single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000407538]|Mitochondrial DNA depletion syndrome 1 [RCV001148527]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000342786]|TYMP-related disorder [RCV003957768]|not provided [RCV001399738] Chr22:50526410 [GRCh38]
Chr22:50964839 [GRCh37]
Chr22:22q13.33		 likely benign|uncertain significance
NM_005138.2(SCO2):c.-142G>C single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV000318947]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000263704] Chr22:50525600 [GRCh38]
Chr22:50964029 [GRCh37]
Chr22:22q13.33		 benign|likely benign|uncertain significance
NM_005138.3(SCO2):c.-114G>C single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV000266519]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000360974] Chr22:50525572 [GRCh38]
Chr22:50964001 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1030G>C (p.Glu344Gln) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001274282]|not provided [RCV000489154] Chr22:50526375 [GRCh38]
Chr22:50964804 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1044G>A (p.Ala348=) single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000327619]|Mitochondrial DNA depletion syndrome 1 [RCV001148525]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000291157]|not provided [RCV003765979] Chr22:50526361 [GRCh38]
Chr22:50964790 [GRCh37]
Chr22:22q13.33		 likely benign|uncertain significance
NM_005138.3(SCO2):c.-51C>T single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV000345077]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000404799] Chr22:50525509 [GRCh38]
Chr22:50963938 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.-78G>C single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001149987]|Fatal Infantile Cardioencephalomyopathy [RCV000364567]|Mitochondrial DNA depletion syndrome 1 [RCV000376198]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000309935]|Myopia 6 [RCV001543802]|not provided [RCV004713833] Chr22:50525536 [GRCh38]
Chr22:50963965 [GRCh37]
Chr22:22q13.33		 benign
NM_005138.3(SCO2):c.540C>T (p.Tyr180=) single nucleotide variant not provided [RCV001401869] Chr22:50523872 [GRCh38]
Chr22:50962301 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.4(TYMP):c.929-6_929-3del microsatellite Fatal Infantile Cardioencephalomyopathy [RCV000374728]|Mitochondrial DNA depletion syndrome 1 [RCV000404575]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000293978]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272325]|not provided [RCV000224802]|not specified [RCV000200098] Chr22:50526479..50526482 [GRCh38]
Chr22:50964908..50964911 [GRCh37]
Chr22:22q13.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005138.3(SCO2):c.-135_-132dup duplication Fatal Infantile Cardioencephalomyopathy [RCV000353038]|Mitochondrial DNA depletion syndrome 1 [RCV000286473]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000316989]|not provided [RCV001799657] Chr22:50525589..50525590 [GRCh38]
Chr22:50964018..50964019 [GRCh37]
Chr22:22q13.33		 benign|likely benign
NM_001953.5(TYMP):c.831G>A (p.Leu277=) single nucleotide variant Fatal Infantile Cardioencephalomyopathy [RCV000402916]|Mitochondrial DNA depletion syndrome 1 [RCV000406103]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000348879]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001276277]|not provided [RCV000676462]|not specified [RCV000126199] Chr22:50526673 [GRCh38]
Chr22:50965102 [GRCh37]
Chr22:22q13.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005138.3(SCO2):c.193G>A (p.Gly65Ser) single nucleotide variant not provided [RCV000757745] Chr22:50524219 [GRCh38]
Chr22:50962648 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264) copy number loss Phelan-McDermid syndrome [RCV000767671] Chr22:48533991..51178264 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47247169-51176099)x1 copy number loss See cases [RCV000449140] Chr22:47247169..51176099 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47187586-51237463)x1 copy number loss See cases [RCV000446928] Chr22:47187586..51237463 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50941373-51066468)x3 copy number gain See cases [RCV000447418] Chr22:50941373..51066468 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.-14+9G>A single nucleotide variant not specified [RCV000445349] Chr22:50525463 [GRCh38]
Chr22:50963892 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1389C>T (p.Asp463=) single nucleotide variant not provided [RCV001395089]|not specified [RCV000438948] Chr22:50525830 [GRCh38]
Chr22:50964259 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.714G>A (p.Thr238=) single nucleotide variant not provided [RCV002522554]|not specified [RCV000421533] Chr22:50523698 [GRCh38]
Chr22:50962127 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.738G>A (p.Ser246=) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001147379]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001147380]|not provided [RCV001513957] Chr22:50523674 [GRCh38]
Chr22:50962103 [GRCh37]
Chr22:22q13.33		 benign|likely benign|uncertain significance
NM_001953.5(TYMP):c.1071C>T (p.Ala357=) single nucleotide variant not provided [RCV000879004]|not specified [RCV000419961] Chr22:50526334 [GRCh38]
Chr22:50964763 [GRCh37]
Chr22:22q13.33		 benign|likely benign
NM_005138.3(SCO2):c.537C>G (p.Arg179=) single nucleotide variant not provided [RCV000952437]|not specified [RCV000426569] Chr22:50523875 [GRCh38]
Chr22:50962304 [GRCh37]
Chr22:22q13.33		 benign|likely benign
GRCh37/hg19 22q13.31-13.33(chr22:46866460-51197838)x1 copy number loss See cases [RCV000447857] Chr22:46866460..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_001953.5(TYMP):c.1160-1G>A single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208629]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV000606736]|not provided [RCV001255087] Chr22:50526142 [GRCh38]
Chr22:50964571 [GRCh37]
Chr22:22q13.33		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001953.5(TYMP):c.1159G>A (p.Gly387Ser) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208644] Chr22:50526246 [GRCh38]
Chr22:50964675 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1159+2T>A single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208672]|not provided [RCV000794156] Chr22:50526244 [GRCh38]
Chr22:50964673 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1067T>C (p.Leu356Pro) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208689] Chr22:50526338 [GRCh38]
Chr22:50964767 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1088del (p.Gly363fs) deletion Mitochondrial DNA depletion syndrome 1 [RCV000208695]|not provided [RCV003556266] Chr22:50526317 [GRCh38]
Chr22:50964746 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1112T>C (p.Leu371Pro) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208705]|not provided [RCV002517411] Chr22:50526293 [GRCh38]
Chr22:50964722 [GRCh37]
Chr22:22q13.33		 pathogenic|uncertain significance
NM_001953.5(TYMP):c.1320dup (p.His441fs) duplication Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208617] Chr22:50525898..50525899 [GRCh38]
Chr22:50964327..50964328 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1282G>A (p.Gly428Ser) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208625]|not provided [RCV002515560] Chr22:50526019 [GRCh38]
Chr22:50964448 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
NM_001953.5(TYMP):c.1160-2A>C single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208627] Chr22:50526143 [GRCh38]
Chr22:50964572 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1395_1400del (p.Pro466_Phe467del) deletion Mitochondrial DNA depletion syndrome 1 [RCV000208631] Chr22:50525819..50525824 [GRCh38]
Chr22:50964248..50964253 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1351dup (p.Gln451fs) duplication Mitochondrial DNA depletion syndrome 1 [RCV000208645] Chr22:50525867..50525868 [GRCh38]
Chr22:50964296..50964297 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1300+2T>A single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208650] Chr22:50525999 [GRCh38]
Chr22:50964428 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1311G>A (p.Trp437Ter) single nucleotide variant Mitochondrial DNA depletion syndrome 1 (MNGIE type) [RCV000208654] Chr22:50525908 [GRCh38]
Chr22:50964337 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1301-1G>A single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208666] Chr22:50525919 [GRCh38]
Chr22:50964348 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
NM_001953.5(TYMP):c.1160-2A>G single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208670] Chr22:50526143 [GRCh38]
Chr22:50964572 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1010_1019delinsAA (p.Gly337fs) indel Mitochondrial DNA depletion syndrome 1 [RCV000208673] Chr22:50526386..50526395 [GRCh38]
Chr22:50964815..50964824 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1311del (p.Trp437fs) deletion Mitochondrial DNA depletion syndrome 1 [RCV000208678] Chr22:50525908 [GRCh38]
Chr22:50964337 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1211dup (p.Gly405fs) duplication Mitochondrial DNA depletion syndrome 1 [RCV000208679] Chr22:50526089..50526090 [GRCh38]
Chr22:50964518..50964519 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1360G>C (p.Ala454Pro) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208684] Chr22:50525859 [GRCh38]
Chr22:50964288 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1160G>A (p.Gly387Asp) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208687]|not specified [RCV003235134] Chr22:50526141 [GRCh38]
Chr22:50964570 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic|uncertain significance
NM_001953.5(TYMP):c.1300+1G>A single nucleotide variant Inborn genetic diseases [RCV001266751]|Mitochondrial DNA depletion syndrome 1 [RCV000208711]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001828047]|not provided [RCV002515561] Chr22:50526000 [GRCh38]
Chr22:50964429 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
NM_001953.5(TYMP):c.1412C>A (p.Ser471Ter) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000208621] Chr22:50525807 [GRCh38]
Chr22:50964236 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1432C>T (p.Leu478=) single nucleotide variant not provided [RCV000896546] Chr22:50525787 [GRCh38]
Chr22:50964216 [GRCh37]
Chr22:22q13.33		 benign|likely benign
NM_001953.5(TYMP):c.1401C>T (p.Phe467=) single nucleotide variant not provided [RCV001403810]|not specified [RCV000603940] Chr22:50525818 [GRCh38]
Chr22:50964247 [GRCh37]
Chr22:22q13.33		 benign|likely benign
NM_001953.5(TYMP):c.1431dup (p.Leu478fs) duplication Mitochondrial DNA depletion syndrome 1 [RCV000208688] Chr22:50525787..50525788 [GRCh38]
Chr22:50964216..50964217 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1327_1346del (p.Asp443fs) deletion Mitochondrial DNA depletion syndrome 1 [RCV000208691]|not provided [RCV001853328] Chr22:50525873..50525892 [GRCh38]
Chr22:50964302..50964321 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1 copy number loss See cases [RCV000512121] Chr22:43381459..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_001953.5(TYMP):c.1301-12dup duplication not provided [RCV002525890]|not specified [RCV000478697] Chr22:50525929..50525930 [GRCh38]
Chr22:50964358..50964359 [GRCh37]
Chr22:22q13.33		 benign|likely benign
NM_005138.3(SCO2):c.618dup (p.Val207fs) duplication not provided [RCV000480578] Chr22:50523793..50523794 [GRCh38]
Chr22:50962222..50962223 [GRCh37]
Chr22:22q13.33		 likely pathogenic
GRCh37/hg19 22q13.33(chr22:49628164-51197838)x1 copy number loss See cases [RCV000510342] Chr22:49628164..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46543160-51197838)x1 copy number loss See cases [RCV000510351] Chr22:46543160..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48556939-51197838)x1 copy number loss See cases [RCV000511340] Chr22:48556939..51197838 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50716021-51157531)x3 copy number gain See cases [RCV000511797] Chr22:50716021..51157531 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.32-13.33(chr22:49305443-51197838)x1 copy number loss See cases [RCV000511993] Chr22:49305443..51197838 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1 copy number loss See cases [RCV000511220] Chr22:45261208..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1 copy number loss See cases [RCV000511256] Chr22:43050743..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 copy number loss See cases [RCV000510765] Chr22:42441918..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1 copy number loss See cases [RCV000511015] Chr22:43875989..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_005138.3(SCO2):c.617G>C (p.Arg206Pro) single nucleotide variant Inborn genetic diseases [RCV003256695] Chr22:50523795 [GRCh38]
Chr22:50962224 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1159+18C>A single nucleotide variant not provided [RCV002066772]|not specified [RCV000613366] Chr22:50526228 [GRCh38]
Chr22:50964657 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.255G>A (p.Leu85=) single nucleotide variant not provided [RCV003708539]|not specified [RCV000616632] Chr22:50524157 [GRCh38]
Chr22:50962586 [GRCh37]
Chr22:22q13.33		 likely benign
GRCh37/hg19 22q13.33(chr22:50145416-51197838)x1 copy number loss See cases [RCV000512145] Chr22:50145416..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_001953.5(TYMP):c.1180G>T (p.Ala394Ser) single nucleotide variant not provided [RCV000676459] Chr22:50526121 [GRCh38]
Chr22:50964550 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1441C>T (p.Gln481Ter) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000668426]|TYMP-related disorder [RCV003892517]|not provided [RCV002531198]|not specified [RCV003488791] Chr22:50525778 [GRCh38]
Chr22:50964207 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:46780978-51183840)x1 copy number loss not provided [RCV000684522] Chr22:46780978..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46768838-51197838)x1 copy number loss not provided [RCV000684523] Chr22:46768838..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46667744-51183840)x1 copy number loss not provided [RCV000684524] Chr22:46667744..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1 copy number loss not provided [RCV000684525] Chr22:45994305..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1 copy number loss not provided [RCV000684526] Chr22:44789956..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1 copy number loss not provided [RCV000684527] Chr22:43320284..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1 copy number loss not provided [RCV000684528] Chr22:43111156..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1 copy number loss not provided [RCV000684529] Chr22:42955616..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50190425-51183767)x1 copy number loss not provided [RCV000684487] Chr22:50190425..51183767 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50613566-51197838)x1 copy number loss not provided [RCV000684479] Chr22:50613566..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50134203-51183840)x1 copy number loss not provided [RCV000684488] Chr22:50134203..51183840 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47782346-51243435)x1 copy number loss not provided [RCV000742061] Chr22:47782346..51243435 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48125251-51211392)x1 copy number loss not provided [RCV000742062] Chr22:48125251..51211392 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:49313561-51195728)x1 copy number loss not provided [RCV000742071] Chr22:49313561..51195728 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50627704-51211392)x1 copy number loss not provided [RCV000742097] Chr22:50627704..51211392 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50921022-51054264)x3 copy number gain not provided [RCV000742112] Chr22:50921022..51054264 [GRCh37]
Chr22:22q13.33		 benign
GRCh37/hg19 22q13.33(chr22:50923113-51055900)x3 copy number gain not provided [RCV000742113] Chr22:50923113..51055900 [GRCh37]
Chr22:22q13.33		 benign
GRCh37/hg19 22q13.33(chr22:50942107-50988376)x3 copy number gain not provided [RCV000742115] Chr22:50942107..50988376 [GRCh37]
Chr22:22q13.33		 benign
GRCh37/hg19 22q13.33(chr22:50944163-50962782)x3 copy number gain not provided [RCV000742121] Chr22:50944163..50962782 [GRCh37]
Chr22:22q13.33		 benign
NM_001953.5(TYMP):c.1300+28C>T single nucleotide variant not provided [RCV001546590] Chr22:50525973 [GRCh38]
Chr22:50964402 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1367A>G (p.Gln456Arg) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV001145765] Chr22:50525852 [GRCh38]
Chr22:50964281 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1320G>A (p.Val440=) single nucleotide variant not provided [RCV000928087] Chr22:50525899 [GRCh38]
Chr22:50964328 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.576C>T (p.Thr192=) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001148307]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001148308]|not provided [RCV000870857] Chr22:50523836 [GRCh38]
Chr22:50962265 [GRCh37]
Chr22:22q13.33		 benign|likely benign|uncertain significance
NM_001953.5(TYMP):c.1340_1361del (p.Leu447fs) deletion Mitochondrial DNA depletion syndrome 1 [RCV005029518]|not provided [RCV001869265]|not specified [RCV000825485] Chr22:50525858..50525879 [GRCh38]
Chr22:50964287..50964308 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33		 pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48454469-51144947)x3 copy number gain not provided [RCV001007507] Chr22:48454469..51144947 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
Single allele deletion not provided [RCV000768459] Chr22:46794432..51139778 [GRCh37]
Chr22:22q13.31-13.33		 likely pathogenic
NM_001953.5(TYMP):c.1001T>G (p.Leu334Arg) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV000855774] Chr22:50526404 [GRCh38]
Chr22:50964833 [GRCh37]
Chr22:22q13.33		 likely pathogenic
NM_005138.3(SCO2):c.762G>A (p.Val254=) single nucleotide variant not provided [RCV000942563] Chr22:50523650 [GRCh38]
Chr22:50962079 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1242G>A (p.Pro414=) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272323]|not provided [RCV000942836] Chr22:50526059 [GRCh38]
Chr22:50964488 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1301-9G>A single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272320]|not provided [RCV000941563] Chr22:50525927 [GRCh38]
Chr22:50964356 [GRCh37]
Chr22:22q13.33		 likely benign
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) copy number loss Phelan-McDermid syndrome [RCV000767745] Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_001953.5(TYMP):c.1023C>T (p.Gly341=) single nucleotide variant not provided [RCV000980488] Chr22:50526382 [GRCh38]
Chr22:50964811 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1287G>A (p.Gln429=) single nucleotide variant not provided [RCV000942408] Chr22:50526014 [GRCh38]
Chr22:50964443 [GRCh37]
Chr22:22q13.33		 likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_001953.5(TYMP):c.1040dup (p.Ala348fs) duplication Mitochondrial neurogastrointestinal encephalomyopathy [RCV001825637]|not provided [RCV000815088] Chr22:50526364..50526365 [GRCh38]
Chr22:50964793..50964794 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
NM_001953.5(TYMP):c.1266G>A (p.Glu422=) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272322]|not provided [RCV000828182] Chr22:50526035 [GRCh38]
Chr22:50964464 [GRCh37]
Chr22:22q13.33		 likely benign|uncertain significance
GRCh37/hg19 22q13.33(chr22:49648935-51197838)x3 copy number gain not provided [RCV001007194] Chr22:49648935..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.2T>C (p.Met1Thr) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV000985024] Chr22:50524410 [GRCh38]
Chr22:50962839 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
NM_001953.5(TYMP):c.1160-48G>A single nucleotide variant not provided [RCV000832992] Chr22:50526189 [GRCh38]
Chr22:50964618 [GRCh37]
Chr22:22q13.33		 benign
NM_005138.3(SCO2):c.456A>T (p.Glu152Asp) single nucleotide variant not provided [RCV000876757] Chr22:50523956 [GRCh38]
Chr22:50962385 [GRCh37]
Chr22:22q13.33		 benign
NM_001953.5(TYMP):c.1189C>T (p.Leu397=) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001825856]|TYMP-related disorder [RCV004753115]|not provided [RCV000920440] Chr22:50526112 [GRCh38]
Chr22:50964541 [GRCh37]
Chr22:22q13.33		 benign|likely benign
NM_001953.5(TYMP):c.1402G>T (p.Ala468Ser) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV001145764] Chr22:50525817 [GRCh38]
Chr22:50964246 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3 copy number gain not provided [RCV000849204] Chr22:46432744..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48223839-51197725)x1 copy number loss not provided [RCV001007506] Chr22:48223839..51197725 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV001027995] Chr22:50526357 [GRCh38]
Chr22:50964786 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33		 pathogenic
NM_001953.5(TYMP):c.1416del (p.Phe473fs) deletion Mitochondrial DNA depletion syndrome 1 [RCV005029567]|not provided [RCV001008084] Chr22:50525803 [GRCh38]
Chr22:50964232 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47740201-51197838)x3 copy number gain not provided [RCV000846659] Chr22:47740201..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_005138.3(SCO2):c.541G>A (p.Val181Ile) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001149867]|Inborn genetic diseases [RCV004960494]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001149866]|SCO2-related disorder [RCV003405357]|not provided [RCV001882460] Chr22:50523871 [GRCh38]
Chr22:50962300 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.173G>A (p.Arg58Gln) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001145653]|Inborn genetic diseases [RCV002559406]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001145652]|not provided [RCV001858956] Chr22:50524239 [GRCh38]
Chr22:50962668 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.533C>T (p.Ala178Val) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV003110140] Chr22:50523879 [GRCh38]
Chr22:50962308 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1324C>T (p.Arg442Trp) single nucleotide variant not provided [RCV003118196] Chr22:50525895 [GRCh38]
Chr22:50964324 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1101A>G (p.Glu367=) single nucleotide variant not provided [RCV003118455] Chr22:50526304 [GRCh38]
Chr22:50964733 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.719A>G (p.Tyr240Cys) single nucleotide variant not provided [RCV004787482] Chr22:50523693 [GRCh38]
Chr22:50962122 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1158T>C (p.Asp386=) single nucleotide variant not provided [RCV003121398] Chr22:50526247 [GRCh38]
Chr22:50964676 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.244_246del (p.Lys82del) deletion Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV005361676]|not provided [RCV001576864] Chr22:50524166..50524168 [GRCh38]
Chr22:50962595..50962597 [GRCh37]
Chr22:22q13.33		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001169109.2(SCO2):c.-14+522A>G single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001543803]|Myopia 6 [RCV001543804]|not provided [RCV001638142] Chr22:50525724 [GRCh38]
Chr22:50964153 [GRCh37]
Chr22:22q13.33		 benign
NM_001953.5(TYMP):c.1301-35G>T single nucleotide variant not provided [RCV001569956] Chr22:50525953 [GRCh38]
Chr22:50964382 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.306C>T (p.Gly102=) single nucleotide variant SCO2-related disorder [RCV003940998]|not provided [RCV001552120] Chr22:50524106 [GRCh38]
Chr22:50962535 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.489C>G (p.Val163=) single nucleotide variant not provided [RCV003106628] Chr22:50523923 [GRCh38]
Chr22:50962352 [GRCh37]
Chr22:22q13.33		 likely benign
NC_000022.10:g.(?_50904370)_(50968138_?)dup duplication not provided [RCV003107564] Chr22:50904370..50968138 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1126C>T (p.Arg376Trp) single nucleotide variant Inborn genetic diseases [RCV003251745] Chr22:50526279 [GRCh38]
Chr22:50964708 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.773T>C (p.Met258Thr) single nucleotide variant not specified [RCV003317875] Chr22:50523639 [GRCh38]
Chr22:50962068 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.970G>T (p.Ala324Ser) single nucleotide variant not provided [RCV001667175] Chr22:50526435 [GRCh38]
Chr22:50964864 [GRCh37]
Chr22:22q13.33		 benign
NM_005138.3(SCO2):c.191C>G (p.Thr64Arg) single nucleotide variant not provided [RCV001907787] Chr22:50524221 [GRCh38]
Chr22:50962650 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.723C>T (p.Tyr241=) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001147381]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001147382]|not provided [RCV000983689] Chr22:50523689 [GRCh38]
Chr22:50962118 [GRCh37]
Chr22:22q13.33		 likely benign|uncertain significance
NM_001953.5(TYMP):c.1295G>A (p.Arg432His) single nucleotide variant Inborn genetic diseases [RCV004028352]|Mitochondrial neurogastrointestinal encephalomyopathy [RCV001272321]|not provided [RCV000886054] Chr22:50526006 [GRCh38]
Chr22:50964435 [GRCh37]
Chr22:22q13.33		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001953.5(TYMP):c.1173G>A (p.Leu391=) single nucleotide variant not provided [RCV000927923] Chr22:50526128 [GRCh38]
Chr22:50964557 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1377C>T (p.Leu459=) single nucleotide variant not provided [RCV000932162] Chr22:50525842 [GRCh38]
Chr22:50964271 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.417C>T (p.Asp139=) single nucleotide variant not provided [RCV000890864] Chr22:50523995 [GRCh38]
Chr22:50962424 [GRCh37]
Chr22:22q13.33		 likely benign
GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1 copy number loss not provided [RCV002472654] Chr22:45977415..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_001953.5(TYMP):c.1034G>A (p.Arg345Gln) single nucleotide variant not provided [RCV001092861] Chr22:50526371 [GRCh38]
Chr22:50964800 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.32-13.33(chr22:48528536-51183840)x1 copy number loss not provided [RCV001007508] Chr22:48528536..51183840 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
NM_005138.3(SCO2):c.226C>T (p.Leu76=) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001145537]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001145651]|not provided [RCV002032370] Chr22:50524186 [GRCh38]
Chr22:50962615 [GRCh37]
Chr22:22q13.33		 likely benign|uncertain significance
GRCh37/hg19 22q13.33(chr22:50099570-51187115)x1 copy number loss not provided [RCV001537924] Chr22:50099570..51187115 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.281T>C (p.Leu94Pro) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV003147639]|not provided [RCV001588330]|not specified [RCV003235591] Chr22:50524131 [GRCh38]
Chr22:50962560 [GRCh37]
Chr22:22q13.33		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NC_000022.10:g.(?_50964189)_(51066217_?)del deletion not provided [RCV001031919] Chr22:50964189..51066217 [GRCh37]
Chr22:22q13.33		 pathogenic
NC_000022.11:g.(?_50525760)_(50529719_?)del deletion not provided [RCV001032507] Chr22:50964189..50968148 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50893448-51060012)x3 copy number gain not provided [RCV001007195] Chr22:50893448..51060012 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.996_1026del (p.Ala333fs) deletion not provided [RCV001090364] Chr22:50526379..50526409 [GRCh38]
Chr22:50964808..50964838 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
NC_000022.11:g.46467175_50759338del deletion Phelan-McDermid syndrome [RCV001254367] Chr22:46467175..50759338 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.44702479_50806138del deletion Phelan-McDermid syndrome [RCV001254370] Chr22:44702479..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.47705262_50739836del deletion Phelan-McDermid syndrome [RCV001254360] Chr22:47705262..50739836 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.46489644_50806138del deletion Phelan-McDermid syndrome [RCV001254363] Chr22:46489644..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.48500337_50739785del deletion Phelan-McDermid syndrome [RCV001254365] Chr22:48500337..50739785 [GRCh38]
Chr22:22q13.32-13.33		 pathogenic
NC_000022.11:g.48500344_50780581del deletion Phelan-McDermid syndrome [RCV001254361] Chr22:48500344..50780581 [GRCh38]
Chr22:22q13.32-13.33		 pathogenic
NC_000022.11:g.43802117_50806121del deletion Phelan-McDermid syndrome [RCV001254364] Chr22:43802117..50806121 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.47513236_50806138del deletion Phelan-McDermid syndrome [RCV001254357] Chr22:47513236..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.49181210_50759297del deletion Phelan-McDermid syndrome [RCV001254368] Chr22:49181210..50759297 [GRCh38]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NC_000022.11:g.46269281_50740560del deletion Phelan-McDermid syndrome [RCV001254358] Chr22:46269281..50740560 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.45819932_50737806del deletion Phelan-McDermid syndrome [RCV001254366] Chr22:45819932..50737806 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.44245760_50806121del deletion Phelan-McDermid syndrome [RCV001254369] Chr22:44245760..50806121 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.47823120_50759410del deletion Phelan-McDermid syndrome [RCV001254355] Chr22:47823120..50759410 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.45708330_50737364del deletion Phelan-McDermid syndrome [RCV001254359] Chr22:45708330..50737364 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.43032129_50739836del deletion Phelan-McDermid syndrome [RCV001254356] Chr22:43032129..50739836 [GRCh38]
Chr22:22q13.2-13.33		 pathogenic
NC_000022.11:g.47447433_50806138del deletion Phelan-McDermid syndrome [RCV001254362] Chr22:47447433..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50791825-51181078)x1 copy number loss not provided [RCV001258791] Chr22:50791825..51181078 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1273G>A (p.Val425Ile) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001278857] Chr22:50526028 [GRCh38]
Chr22:50964457 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1159+1G>A single nucleotide variant Inborn genetic diseases [RCV001266752]|Mitochondrial DNA depletion syndrome 1 [RCV004570658]|not provided [RCV001880125] Chr22:50526245 [GRCh38]
Chr22:50964674 [GRCh37]
Chr22:22q13.33		 pathogenic
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_005138.3(SCO2):c.256C>T (p.Gln86Ter) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001336784] Chr22:50524156 [GRCh38]
Chr22:50962585 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.412C>T (p.Pro138Ser) single nucleotide variant not provided [RCV001310815] Chr22:50524000 [GRCh38]
Chr22:50962429 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.300C>T (p.Gly100=) single nucleotide variant not provided [RCV001310816] Chr22:50524112 [GRCh38]
Chr22:50962541 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1404C>T (p.Ala468=) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001278856]|not provided [RCV003738033] Chr22:50525815 [GRCh38]
Chr22:50964244 [GRCh37]
Chr22:22q13.33		 likely benign|uncertain significance
NM_001953.5(TYMP):c.1413G>A (p.Ser471=) single nucleotide variant TYMP-related disorder [RCV003900426]|not provided [RCV001413537] Chr22:50525806 [GRCh38]
Chr22:50964235 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1410C>T (p.Pro470=) single nucleotide variant not provided [RCV001413802] Chr22:50525809 [GRCh38]
Chr22:50964238 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1225A>G (p.Ser409Gly) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001278858] Chr22:50526076 [GRCh38]
Chr22:50964505 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.303G>C (p.Gln101His) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV004789546]|not provided [RCV001363284] Chr22:50524109 [GRCh38]
Chr22:50962538 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1081T>C (p.Cys361Arg) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV001330872] Chr22:50526324 [GRCh38]
Chr22:50964753 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1419C>T (p.Phe473=) single nucleotide variant TYMP-related disorder [RCV004753313]|not provided [RCV001413292] Chr22:50525800 [GRCh38]
Chr22:50964229 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1217C>A (p.Ala406Asp) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001278859] Chr22:50526084 [GRCh38]
Chr22:50964513 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1209G>A (p.Glu403=) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001278860]|not provided [RCV001478884] Chr22:50526092 [GRCh38]
Chr22:50964521 [GRCh37]
Chr22:22q13.33		 likely benign|uncertain significance
NM_005138.3(SCO2):c.512G>A (p.Arg171Gln) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV001331366]|Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV005038086]|not provided [RCV001732130] Chr22:50523900 [GRCh38]
Chr22:50962329 [GRCh37]
Chr22:22q13.33		 likely pathogenic|uncertain significance
NM_001953.5(TYMP):c.1245C>A (p.Leu415=) single nucleotide variant not provided [RCV001413723] Chr22:50526056 [GRCh38]
Chr22:50964485 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1017C>T (p.Ala339=) single nucleotide variant not provided [RCV001395050] Chr22:50526388 [GRCh38]
Chr22:50964817 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1170G>A (p.Glu390=) single nucleotide variant not provided [RCV001395901] Chr22:50526131 [GRCh38]
Chr22:50964560 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.284G>A (p.Arg95His) single nucleotide variant not provided [RCV001365802] Chr22:50524128 [GRCh38]
Chr22:50962557 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1236G>C (p.Gly412=) single nucleotide variant not provided [RCV001473092] Chr22:50526065 [GRCh38]
Chr22:50964494 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1251G>T (p.Leu417=) single nucleotide variant not provided [RCV001501799] Chr22:50526050 [GRCh38]
Chr22:50964479 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1245C>G (p.Leu415=) single nucleotide variant not provided [RCV001469851] Chr22:50526056 [GRCh38]
Chr22:50964485 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1416C>T (p.Pro472=) single nucleotide variant not provided [RCV001482453] Chr22:50525803 [GRCh38]
Chr22:50964232 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1164C>A (p.Thr388=) single nucleotide variant not provided [RCV001482647] Chr22:50526137 [GRCh38]
Chr22:50964566 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1323C>T (p.His441=) single nucleotide variant not provided [RCV001505968] Chr22:50525896 [GRCh38]
Chr22:50964325 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1140G>A (p.Glu380=) single nucleotide variant not provided [RCV001473583] Chr22:50526265 [GRCh38]
Chr22:50964694 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1164C>T (p.Thr388=) single nucleotide variant not provided [RCV001473849] Chr22:50526137 [GRCh38]
Chr22:50964566 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1122C>G (p.Arg374=) single nucleotide variant not provided [RCV001451735] Chr22:50526283 [GRCh38]
Chr22:50964712 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1300+7G>A single nucleotide variant not provided [RCV001402627] Chr22:50525994 [GRCh38]
Chr22:50964423 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1077C>T (p.Ala359=) single nucleotide variant not provided [RCV001480186] Chr22:50526328 [GRCh38]
Chr22:50964757 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1308C>T (p.Pro436=) single nucleotide variant not provided [RCV001459603] Chr22:50525911 [GRCh38]
Chr22:50964340 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1032G>A (p.Glu344=) single nucleotide variant not provided [RCV001503331] Chr22:50526373 [GRCh38]
Chr22:50964802 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1374G>C (p.Ala458=) single nucleotide variant not provided [RCV001492871] Chr22:50525845 [GRCh38]
Chr22:50964274 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1275C>G (p.Val425=) single nucleotide variant not provided [RCV001426306] Chr22:50526026 [GRCh38]
Chr22:50964455 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1363C>T (p.Leu455=) single nucleotide variant not provided [RCV001477532] Chr22:50525856 [GRCh38]
Chr22:50964285 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1305C>A (p.Thr435=) single nucleotide variant not provided [RCV001453066] Chr22:50525914 [GRCh38]
Chr22:50964343 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1159+10G>C single nucleotide variant not provided [RCV001403517] Chr22:50526236 [GRCh38]
Chr22:50964665 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1149G>A (p.Ala383=) single nucleotide variant not provided [RCV001501439] Chr22:50526256 [GRCh38]
Chr22:50964685 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1152C>T (p.Pro384=) single nucleotide variant not provided [RCV001441004] Chr22:50526253 [GRCh38]
Chr22:50964682 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1270C>T (p.Leu424=) single nucleotide variant not provided [RCV001416874] Chr22:50526031 [GRCh38]
Chr22:50964460 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1159+10G>A single nucleotide variant not provided [RCV001402053] Chr22:50526236 [GRCh38]
Chr22:50964665 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1104C>A (p.Arg368=) single nucleotide variant not provided [RCV001407020] Chr22:50526301 [GRCh38]
Chr22:50964730 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1083C>T (p.Cys361=) single nucleotide variant not provided [RCV001430322] Chr22:50526322 [GRCh38]
Chr22:50964751 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1159+9C>T single nucleotide variant not provided [RCV001416037] Chr22:50526237 [GRCh38]
Chr22:50964666 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1300+9C>T single nucleotide variant not provided [RCV001429337] Chr22:50525992 [GRCh38]
Chr22:50964421 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1065T>C (p.Gly355=) single nucleotide variant not provided [RCV001426356] Chr22:50526340 [GRCh38]
Chr22:50964769 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1071C>A (p.Ala357=) single nucleotide variant not provided [RCV001428820] Chr22:50526334 [GRCh38]
Chr22:50964763 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1014G>C (p.Ser338=) single nucleotide variant not provided [RCV001408430] Chr22:50526391 [GRCh38]
Chr22:50964820 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.963G>A (p.Gly321=) single nucleotide variant not provided [RCV001410996] Chr22:50526442 [GRCh38]
Chr22:50964871 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1380A>T (p.Val460=) single nucleotide variant not provided [RCV001445619] Chr22:50525839 [GRCh38]
Chr22:50964268 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1253G>C (p.Gly418Ala) single nucleotide variant not provided [RCV001508950] Chr22:50526048 [GRCh38]
Chr22:50964477 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1302G>A (p.Gly434=) single nucleotide variant not provided [RCV001472960] Chr22:50525917 [GRCh38]
Chr22:50964346 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1233T>G (p.Ala411=) single nucleotide variant not provided [RCV001464680] Chr22:50526068 [GRCh38]
Chr22:50964497 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.764G>T (p.Arg255Leu) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV004789642]|not provided [RCV001508948] Chr22:50523648 [GRCh38]
Chr22:50962077 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1301-2_1305del deletion not provided [RCV001508949] Chr22:50525914..50525920 [GRCh38]
Chr22:50964343..50964349 [GRCh37]
Chr22:22q13.33		 likely pathogenic
NM_001953.5(TYMP):c.1159+7G>T single nucleotide variant not provided [RCV001491229] Chr22:50526239 [GRCh38]
Chr22:50964668 [GRCh37]
Chr22:22q13.33		 likely benign
NC_000022.11:g.50523425T>C single nucleotide variant not provided [RCV001714260] Chr22:50523425 [GRCh38]
Chr22:50961854 [GRCh37]
Chr22:22q13.33		 benign
NM_001953.5(TYMP):c.1160-29C>G single nucleotide variant not provided [RCV001716639] Chr22:50526170 [GRCh38]
Chr22:50964599 [GRCh37]
Chr22:22q13.33		 benign
NM_001953.5(TYMP):c.1160-7C>T single nucleotide variant not provided [RCV001488218] Chr22:50526148 [GRCh38]
Chr22:50964577 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1050G>A (p.Gln350=) single nucleotide variant not provided [RCV001478278] Chr22:50526355 [GRCh38]
Chr22:50964784 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1272G>T (p.Leu424=) single nucleotide variant not provided [RCV001478024] Chr22:50526029 [GRCh38]
Chr22:50964458 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1159+1G>T single nucleotide variant not provided [RCV001379850] Chr22:50526245 [GRCh38]
Chr22:50964674 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
NM_001953.5(TYMP):c.1440G>A (p.Pro480=) single nucleotide variant not provided [RCV001468478] Chr22:50525779 [GRCh38]
Chr22:50964208 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.72G>A (p.Gly24=) single nucleotide variant not provided [RCV001399612] Chr22:50524340 [GRCh38]
Chr22:50962769 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1428C>T (p.Leu476=) single nucleotide variant not provided [RCV001495378] Chr22:50525791 [GRCh38]
Chr22:50964220 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.456A>G (p.Glu152=) single nucleotide variant not provided [RCV001496110] Chr22:50523956 [GRCh38]
Chr22:50962385 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1160-16_1160-7dup duplication not provided [RCV001481709] Chr22:50526147..50526148 [GRCh38]
Chr22:50964576..50964577 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1056G>A (p.Val352=) single nucleotide variant not provided [RCV001497687] Chr22:50526349 [GRCh38]
Chr22:50964778 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1188G>A (p.Pro396=) single nucleotide variant not provided [RCV001432021] Chr22:50526113 [GRCh38]
Chr22:50964542 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1301-4G>C single nucleotide variant not provided [RCV001453581] Chr22:50525922 [GRCh38]
Chr22:50964351 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1269G>A (p.Leu423=) single nucleotide variant not provided [RCV001476711] Chr22:50526032 [GRCh38]
Chr22:50964461 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1183C>T (p.Leu395=) single nucleotide variant not provided [RCV001398230] Chr22:50526118 [GRCh38]
Chr22:50964547 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1224_1225insT (p.Ser409Ter) insertion not provided [RCV001386342] Chr22:50526076..50526077 [GRCh38]
Chr22:50964505..50964506 [GRCh37]
Chr22:22q13.33		 pathogenic
NC_000022.10:g.(?_50297466)_(51066227_?)del deletion ALG12-congenital disorder of glycosylation [RCV001384242] Chr22:50297466..51066227 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1185G>A (p.Leu395=) single nucleotide variant Mitochondrial neurogastrointestinal encephalomyopathy [RCV001832682]|not provided [RCV001512517] Chr22:50526116 [GRCh38]
Chr22:50964545 [GRCh37]
Chr22:22q13.33		 benign|likely benign
NM_005138.3(SCO2):c.785G>A (p.Arg262His) single nucleotide variant not provided [RCV001732606] Chr22:50523627 [GRCh38]
Chr22:50962056 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.500T>G (p.Val167Gly) single nucleotide variant not provided [RCV001725906] Chr22:50523912 [GRCh38]
Chr22:50962341 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.724G>A (p.Gly242Ser) single nucleotide variant not provided [RCV001756770] Chr22:50523688 [GRCh38]
Chr22:50962117 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.224G>A (p.Trp75Ter) single nucleotide variant not provided [RCV001783719] Chr22:50524188 [GRCh38]
Chr22:50962617 [GRCh37]
Chr22:22q13.33		 likely pathogenic
NM_005138.3(SCO2):c.437_445del (p.Gln146_Val148del) deletion not provided [RCV001773364] Chr22:50523967..50523975 [GRCh38]
Chr22:50962396..50962404 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:47554026-51186813)x1 copy number loss not provided [RCV001795845] Chr22:47554026..51186813 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_001953.5(TYMP):c.1142T>G (p.Leu381Arg) single nucleotide variant not provided [RCV001770621] Chr22:50526263 [GRCh38]
Chr22:50964692 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.377T>C (p.Met126Thr) single nucleotide variant not provided [RCV001752645] Chr22:50524035 [GRCh38]
Chr22:50962464 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1286A>T (p.Gln429Leu) single nucleotide variant not provided [RCV001774669] Chr22:50526015 [GRCh38]
Chr22:50964444 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1 copy number loss Phelan-McDermid syndrome [RCV001801178] Chr22:42321321..51244066 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_005138.3(SCO2):c.395_406del (p.His132_Ile136delinsLeu) deletion SCO2-related disorder [RCV003941120]|not provided [RCV001757867] Chr22:50524006..50524017 [GRCh38]
Chr22:50962435..50962446 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.508G>C (p.Glu170Gln) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV002482350]|not provided [RCV001822036] Chr22:50523904 [GRCh38]
Chr22:50962333 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1198_1203del (p.Val400_Leu401del) deletion Mitochondrial DNA depletion syndrome 1 [RCV001805744] Chr22:50526098..50526103 [GRCh38]
Chr22:50964527..50964532 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
NM_005138.3(SCO2):c.656A>G (p.Asp219Gly) single nucleotide variant not provided [RCV001969837] Chr22:50523756 [GRCh38]
Chr22:50962185 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.118A>G (p.Arg40Gly) single nucleotide variant not provided [RCV001971394] Chr22:50524294 [GRCh38]
Chr22:50962723 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.460G>A (p.Glu154Lys) single nucleotide variant Inborn genetic diseases [RCV004953275]|not provided [RCV001895891] Chr22:50523952 [GRCh38]
Chr22:50962381 [GRCh37]
Chr22:22q13.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_005138.3(SCO2):c.788G>A (p.Ser263Asn) single nucleotide variant not provided [RCV001895737] Chr22:50523624 [GRCh38]
Chr22:50962053 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.445C>T (p.Arg149Trp) single nucleotide variant not provided [RCV001915490] Chr22:50523967 [GRCh38]
Chr22:50962396 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.17G>A (p.Arg6Gln) single nucleotide variant not provided [RCV002021576] Chr22:50524395 [GRCh38]
Chr22:50962824 [GRCh37]
Chr22:22q13.33		 uncertain significance
NC_000022.10:g.(?_50167881)_(51066207_?)dup duplication ALG12-congenital disorder of glycosylation [RCV001950618] Chr22:50167881..51066207 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.787A>G (p.Ser263Gly) single nucleotide variant not provided [RCV002024252] Chr22:50523625 [GRCh38]
Chr22:50962054 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.635G>A (p.Gly212Asp) single nucleotide variant not provided [RCV001970919] Chr22:50523777 [GRCh38]
Chr22:50962206 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.44C>T (p.Ser15Phe) single nucleotide variant not provided [RCV001874412] Chr22:50524368 [GRCh38]
Chr22:50962797 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.652dup (p.Gln218fs) duplication Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV002503513]|not provided [RCV001893302] Chr22:50523759..50523760 [GRCh38]
Chr22:50962188..50962189 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.536G>A (p.Arg179His) single nucleotide variant not provided [RCV002024611] Chr22:50523876 [GRCh38]
Chr22:50962305 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.616C>T (p.Arg206Cys) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV002478111]|not provided [RCV001863506] Chr22:50523796 [GRCh38]
Chr22:50962225 [GRCh37]
Chr22:22q13.33		 uncertain significance
Single allele duplication Chromosome 22q13 duplication syndrome [RCV002280361] Chr22:49883237..50740457 [GRCh38]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.16C>T (p.Arg6Trp) single nucleotide variant not provided [RCV002005244] Chr22:50524396 [GRCh38]
Chr22:50962825 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.359G>C (p.Arg120Pro) single nucleotide variant not provided [RCV002020522] Chr22:50524053 [GRCh38]
Chr22:50962482 [GRCh37]
Chr22:22q13.33		 uncertain significance
NC_000022.10:g.(?_50885571)_(50965732_?)dup duplication not provided [RCV002020698] Chr22:50885571..50965732 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.236G>C (p.Arg79Thr) single nucleotide variant not provided [RCV002005839] Chr22:50524176 [GRCh38]
Chr22:50962605 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1251G>A (p.Leu417=) single nucleotide variant not provided [RCV002035144] Chr22:50526050 [GRCh38]
Chr22:50964479 [GRCh37]
Chr22:22q13.33		 likely benign
GRCh37/hg19 22q13.31-13.33(chr22:47567951-51183840)x1 copy number loss not provided [RCV001832912] Chr22:47567951..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_001953.5(TYMP):c.1254G>A (p.Gly418=) single nucleotide variant not provided [RCV002037832] Chr22:50526047 [GRCh38]
Chr22:50964476 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.664G>A (p.Val222Met) single nucleotide variant not provided [RCV002008150] Chr22:50523748 [GRCh38]
Chr22:50962177 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838) copy number loss not specified [RCV002052757] Chr22:42972719..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:49729747-51197838) copy number loss not specified [RCV002052764] Chr22:49729747..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1279G>C (p.Val427Leu) single nucleotide variant Inborn genetic diseases [RCV003170161]|not provided [RCV002007113] Chr22:50526022 [GRCh38]
Chr22:50964451 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.728G>A (p.Arg243Gln) single nucleotide variant Inborn genetic diseases [RCV002571336]|not provided [RCV002005018] Chr22:50523684 [GRCh38]
Chr22:50962113 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.235_237del (p.Arg79del) deletion not provided [RCV002043394] Chr22:50524175..50524177 [GRCh38]
Chr22:50962604..50962606 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.101G>A (p.Arg34Lys) single nucleotide variant not provided [RCV001967788] Chr22:50524311 [GRCh38]
Chr22:50962740 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.977G>T (p.Gly326Val) single nucleotide variant not provided [RCV002040698] Chr22:50526428 [GRCh38]
Chr22:50964857 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1310G>A (p.Trp437Ter) single nucleotide variant not provided [RCV002016630] Chr22:50525909 [GRCh38]
Chr22:50964338 [GRCh37]
Chr22:22q13.33		 pathogenic|uncertain significance
NM_005138.3(SCO2):c.209G>C (p.Gly70Ala) single nucleotide variant Inborn genetic diseases [RCV004046860]|not provided [RCV002040833] Chr22:50524203 [GRCh38]
Chr22:50962632 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.446G>A (p.Arg149Gln) single nucleotide variant Inborn genetic diseases [RCV004956182]|not provided [RCV002038496] Chr22:50523966 [GRCh38]
Chr22:50962395 [GRCh37]
Chr22:22q13.33		 likely benign|uncertain significance
NC_000022.10:g.(?_50502853)_(51066207_?)dup duplication not provided [RCV001944250] Chr22:50502853..51066207 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.784C>T (p.Arg262Cys) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV002486778]|not provided [RCV002036505] Chr22:50523628 [GRCh38]
Chr22:50962057 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.55C>T (p.Pro19Ser) single nucleotide variant not provided [RCV001991551] Chr22:50524357 [GRCh38]
Chr22:50962786 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.290C>T (p.Ala97Val) single nucleotide variant not provided [RCV002037370] Chr22:50524122 [GRCh38]
Chr22:50962551 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.200T>A (p.Phe67Tyr) single nucleotide variant not provided [RCV001883369] Chr22:50524212 [GRCh38]
Chr22:50962641 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.619G>A (p.Val207Met) single nucleotide variant not provided [RCV002037496] Chr22:50523793 [GRCh38]
Chr22:50962222 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.461A>G (p.Glu154Gly) single nucleotide variant not provided [RCV002000387] Chr22:50523951 [GRCh38]
Chr22:50962380 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1237G>C (p.Glu413Gln) single nucleotide variant not provided [RCV001926103] Chr22:50526064 [GRCh38]
Chr22:50964493 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1325G>A (p.Arg442Gln) single nucleotide variant not provided [RCV001981956] Chr22:50525894 [GRCh38]
Chr22:50964323 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.521T>C (p.Val174Ala) single nucleotide variant not provided [RCV001957099] Chr22:50523891 [GRCh38]
Chr22:50962320 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1298G>T (p.Arg433Leu) single nucleotide variant not provided [RCV001989132] Chr22:50526003 [GRCh38]
Chr22:50964432 [GRCh37]
Chr22:22q13.33		 uncertain significance
NC_000022.10:g.(?_50885571)_(51021210_?)del deletion Megaconial type congenital muscular dystrophy [RCV001918329] Chr22:50885571..51021210 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.775G>A (p.Ala259Thr) single nucleotide variant Inborn genetic diseases [RCV004656717]|not provided [RCV001922664] Chr22:50523637 [GRCh38]
Chr22:50962066 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1429G>A (p.Val477Ile) single nucleotide variant not provided [RCV001913483] Chr22:50525790 [GRCh38]
Chr22:50964219 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.233T>A (p.Leu78Gln) single nucleotide variant not provided [RCV002050475] Chr22:50524179 [GRCh38]
Chr22:50962608 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1062dup (p.Gly355fs) duplication not provided [RCV001891615] Chr22:50526342..50526343 [GRCh38]
Chr22:50964771..50964772 [GRCh37]
Chr22:22q13.33		 pathogenic
NC_000022.10:g.(?_50906785)_(51066207_?)dup duplication Metachromatic leukodystrophy [RCV001900243] Chr22:50906785..51066207 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.617G>A (p.Arg206His) single nucleotide variant Inborn genetic diseases [RCV004970733]|not provided [RCV001989547] Chr22:50523795 [GRCh38]
Chr22:50962224 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.127C>G (p.Pro43Ala) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV002486568]|not provided [RCV002010195] Chr22:50524285 [GRCh38]
Chr22:50962714 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.622T>G (p.Tyr208Asp) single nucleotide variant not provided [RCV001906375] Chr22:50523790 [GRCh38]
Chr22:50962219 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.713C>T (p.Thr238Met) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV002478145]|Inborn genetic diseases [RCV004039822]|not provided [RCV001901986] Chr22:50523699 [GRCh38]
Chr22:50962128 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.796T>C (p.Ser266Pro) single nucleotide variant not provided [RCV001991503] Chr22:50523616 [GRCh38]
Chr22:50962045 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.178C>T (p.Arg60Trp) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV002468649]|not provided [RCV001935690] Chr22:50524234 [GRCh38]
Chr22:50962663 [GRCh37]
Chr22:22q13.33		 pathogenic|uncertain significance
NM_005138.3(SCO2):c.386G>C (p.Gly129Ala) single nucleotide variant not provided [RCV001958161] Chr22:50524026 [GRCh38]
Chr22:50962455 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1128_1153del (p.Glu377fs) deletion TYMP-related disorder [RCV003401967]|not provided [RCV001942329] Chr22:50526252..50526277 [GRCh38]
Chr22:50964681..50964706 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
NM_005138.3(SCO2):c.756C>G (p.Asp252Glu) single nucleotide variant not provided [RCV001883113] Chr22:50523656 [GRCh38]
Chr22:50962085 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.479T>C (p.Val160Ala) single nucleotide variant not provided [RCV001897687] Chr22:50523933 [GRCh38]
Chr22:50962362 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.602C>T (p.Ala201Val) single nucleotide variant not provided [RCV001979766] Chr22:50523810 [GRCh38]
Chr22:50962239 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.340C>T (p.Arg114Cys) single nucleotide variant not provided [RCV001998227] Chr22:50524072 [GRCh38]
Chr22:50962501 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.727C>T (p.Arg243Trp) single nucleotide variant Inborn genetic diseases [RCV004656824]|not provided [RCV002019429] Chr22:50523685 [GRCh38]
Chr22:50962114 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.755_758del (p.Asp252fs) deletion Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV005031905]|not provided [RCV001924195] Chr22:50523654..50523657 [GRCh38]
Chr22:50962083..50962086 [GRCh37]
Chr22:22q13.33		 likely pathogenic|uncertain significance
NM_005138.3(SCO2):c.70G>A (p.Gly24Arg) single nucleotide variant not provided [RCV001992520] Chr22:50524342 [GRCh38]
Chr22:50962771 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.553C>T (p.His185Tyr) single nucleotide variant not provided [RCV001924473] Chr22:50523859 [GRCh38]
Chr22:50962288 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.655G>A (p.Asp219Asn) single nucleotide variant not provided [RCV002026214] Chr22:50523757 [GRCh38]
Chr22:50962186 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1156G>T (p.Asp386Tyr) single nucleotide variant not provided [RCV001944252] Chr22:50526249 [GRCh38]
Chr22:50964678 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.463C>T (p.Pro155Ser) single nucleotide variant not provided [RCV002015274] Chr22:50523949 [GRCh38]
Chr22:50962378 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.327_328del (p.His109fs) microsatellite Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV004571992]|not provided [RCV002027345] Chr22:50524084..50524085 [GRCh38]
Chr22:50962513..50962514 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
NM_005138.3(SCO2):c.142G>A (p.Gly48Arg) single nucleotide variant not provided [RCV001919817] Chr22:50524270 [GRCh38]
Chr22:50962699 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1336G>A (p.Ala446Thr) single nucleotide variant not provided [RCV001886587] Chr22:50525883 [GRCh38]
Chr22:50964312 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1330_1351del (p.Gly444fs) deletion not provided [RCV001989762] Chr22:50525868..50525889 [GRCh38]
Chr22:50964297..50964318 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.340C>G (p.Arg114Gly) single nucleotide variant not provided [RCV002026894] Chr22:50524072 [GRCh38]
Chr22:50962501 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1203G>A (p.Leu401=) single nucleotide variant not provided [RCV002196266] Chr22:50526098 [GRCh38]
Chr22:50964527 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1398A>C (p.Pro466=) single nucleotide variant not provided [RCV002079530] Chr22:50525821 [GRCh38]
Chr22:50964250 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.978C>T (p.Gly326=) single nucleotide variant not provided [RCV002111030] Chr22:50526427 [GRCh38]
Chr22:50964856 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1236G>A (p.Gly412=) single nucleotide variant not provided [RCV002089294] Chr22:50526065 [GRCh38]
Chr22:50964494 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1160-12dup duplication not provided [RCV002089306] Chr22:50526152..50526153 [GRCh38]
Chr22:50964581..50964582 [GRCh37]
Chr22:22q13.33		 benign
NM_001953.5(TYMP):c.1301-10C>T single nucleotide variant not provided [RCV002210677] Chr22:50525928 [GRCh38]
Chr22:50964357 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1062C>T (p.Pro354=) single nucleotide variant not provided [RCV002211914] Chr22:50526343 [GRCh38]
Chr22:50964772 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1227C>T (p.Ser409=) single nucleotide variant not provided [RCV002094657] Chr22:50526074 [GRCh38]
Chr22:50964503 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1218C>T (p.Ala406=) single nucleotide variant not provided [RCV002115639] Chr22:50526083 [GRCh38]
Chr22:50964512 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1212C>T (p.Leu404=) single nucleotide variant not provided [RCV002127918] Chr22:50526089 [GRCh38]
Chr22:50964518 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1160-8C>A single nucleotide variant not provided [RCV002147271] Chr22:50526149 [GRCh38]
Chr22:50964578 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1335C>G (p.Pro445=) single nucleotide variant not provided [RCV002163083] Chr22:50525884 [GRCh38]
Chr22:50964313 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.261G>A (p.Gln87=) single nucleotide variant not provided [RCV002192901] Chr22:50524151 [GRCh38]
Chr22:50962580 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1159+11G>A single nucleotide variant not provided [RCV002100970] Chr22:50526235 [GRCh38]
Chr22:50964664 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.168G>A (p.Gly56=) single nucleotide variant not provided [RCV002186754] Chr22:50524244 [GRCh38]
Chr22:50962673 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1305C>T (p.Thr435=) single nucleotide variant not provided [RCV002125572] Chr22:50525914 [GRCh38]
Chr22:50964343 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.768G>A (p.Arg256=) single nucleotide variant not provided [RCV002106367] Chr22:50523644 [GRCh38]
Chr22:50962073 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1301-4G>A single nucleotide variant not provided [RCV002147111] Chr22:50525922 [GRCh38]
Chr22:50964351 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1160-13C>T single nucleotide variant not provided [RCV002148128] Chr22:50526154 [GRCh38]
Chr22:50964583 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1160-9T>C single nucleotide variant not provided [RCV002159462] Chr22:50526150 [GRCh38]
Chr22:50964579 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1446A>G (p.Gln482=) single nucleotide variant not provided [RCV002162497] Chr22:50525773 [GRCh38]
Chr22:50964202 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.334C>A (p.Arg112=) single nucleotide variant not provided [RCV002146320] Chr22:50524078 [GRCh38]
Chr22:50962507 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1368G>A (p.Gln456=) single nucleotide variant not provided [RCV002071644] Chr22:50525851 [GRCh38]
Chr22:50964280 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1300+14C>A single nucleotide variant not provided [RCV002180030] Chr22:50525987 [GRCh38]
Chr22:50964416 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1159+14dup duplication not provided [RCV002098093] Chr22:50526231..50526232 [GRCh38]
Chr22:50964660..50964661 [GRCh37]
Chr22:22q13.33		 benign
NM_001953.5(TYMP):c.1146G>T (p.Leu382=) single nucleotide variant not provided [RCV002078716] Chr22:50526259 [GRCh38]
Chr22:50964688 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1160-14C>T single nucleotide variant not provided [RCV002105325] Chr22:50526155 [GRCh38]
Chr22:50964584 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1300+10G>A single nucleotide variant not provided [RCV002201567] Chr22:50525991 [GRCh38]
Chr22:50964420 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1239G>A (p.Glu413=) single nucleotide variant not provided [RCV002201013] Chr22:50526062 [GRCh38]
Chr22:50964491 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1215G>A (p.Gly405=) single nucleotide variant not provided [RCV002201087] Chr22:50526086 [GRCh38]
Chr22:50964515 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1113G>A (p.Leu371=) single nucleotide variant not provided [RCV002201994] Chr22:50526292 [GRCh38]
Chr22:50964721 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.507C>T (p.Pro169=) single nucleotide variant not provided [RCV002075193] Chr22:50523905 [GRCh38]
Chr22:50962334 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.795G>A (p.Leu265=) single nucleotide variant not provided [RCV002153505] Chr22:50523617 [GRCh38]
Chr22:50962046 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.195C>G (p.Gly65=) single nucleotide variant not provided [RCV002086591] Chr22:50524217 [GRCh38]
Chr22:50962646 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1344C>T (p.Ser448=) single nucleotide variant not provided [RCV002172814] Chr22:50525875 [GRCh38]
Chr22:50964304 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.432G>C (p.Leu144=) single nucleotide variant not provided [RCV002096917] Chr22:50523980 [GRCh38]
Chr22:50962409 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1176C>G (p.Val392=) single nucleotide variant not provided [RCV002102022] Chr22:50526125 [GRCh38]
Chr22:50964554 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.399C>T (p.Cys133=) single nucleotide variant not provided [RCV002174076] Chr22:50524013 [GRCh38]
Chr22:50962442 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1146G>A (p.Leu382=) single nucleotide variant not provided [RCV002168722] Chr22:50526259 [GRCh38]
Chr22:50964688 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1131G>A (p.Glu377=) single nucleotide variant not provided [RCV002169503] Chr22:50526274 [GRCh38]
Chr22:50964703 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.18G>C (p.Arg6=) single nucleotide variant not provided [RCV002128058] Chr22:50524394 [GRCh38]
Chr22:50962823 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1437G>A (p.Pro479=) single nucleotide variant not provided [RCV002079389] Chr22:50525782 [GRCh38]
Chr22:50964211 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.18G>T (p.Arg6=) single nucleotide variant not provided [RCV002128306] Chr22:50524394 [GRCh38]
Chr22:50962823 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.561A>G (p.Arg187=) single nucleotide variant not provided [RCV002171869] Chr22:50523851 [GRCh38]
Chr22:50962280 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.405C>T (p.Asp135=) single nucleotide variant not provided [RCV002212291] Chr22:50524007 [GRCh38]
Chr22:50962436 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1159+14G>T single nucleotide variant not provided [RCV002103391] Chr22:50526232 [GRCh38]
Chr22:50964661 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.39G>A (p.Arg13=) single nucleotide variant not provided [RCV002081190] Chr22:50524373 [GRCh38]
Chr22:50962802 [GRCh37]
Chr22:22q13.33		 likely benign
Single allele duplication not provided [RCV002227667] Chr22:50023390..50594061 [GRCh38]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.516C>T (p.Asp172=) single nucleotide variant not provided [RCV002179382] Chr22:50523896 [GRCh38]
Chr22:50962325 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.752C>T (p.Ser251Leu) single nucleotide variant not provided [RCV002100396] Chr22:50523660 [GRCh38]
Chr22:50962089 [GRCh37]
Chr22:22q13.33		 likely benign|conflicting interpretations of pathogenicity
NM_005138.3(SCO2):c.789T>C (p.Ser263=) single nucleotide variant not provided [RCV002117723] Chr22:50523623 [GRCh38]
Chr22:50962052 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.576C>G (p.Thr192=) single nucleotide variant not provided [RCV002177896] Chr22:50523836 [GRCh38]
Chr22:50962265 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.96T>C (p.His32=) single nucleotide variant not provided [RCV002202641] Chr22:50524316 [GRCh38]
Chr22:50962745 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.597C>T (p.Ala199=) single nucleotide variant not provided [RCV002219955] Chr22:50523815 [GRCh38]
Chr22:50962244 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.37A>C (p.Arg13=) single nucleotide variant not provided [RCV002159641] Chr22:50524375 [GRCh38]
Chr22:50962804 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.702C>T (p.Asp234=) single nucleotide variant not provided [RCV002118425] Chr22:50523710 [GRCh38]
Chr22:50962139 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.559A>C (p.Arg187=) single nucleotide variant not provided [RCV002219482] Chr22:50523853 [GRCh38]
Chr22:50962282 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.338C>T (p.Ala113Val) single nucleotide variant not provided [RCV004790896] Chr22:50524074 [GRCh38]
Chr22:50962503 [GRCh37]
Chr22:22q13.33		 uncertain significance
NC_000022.10:g.(?_50167881)_(51066207_?)del deletion Metachromatic leukodystrophy [RCV003111291]|not provided [RCV003111290] Chr22:50167881..51066207 [GRCh37]
Chr22:22q13.33		 pathogenic|no classifications from unflagged records
NM_005138.3(SCO2):c.241G>A (p.Glu81Lys) single nucleotide variant not provided [RCV003115326] Chr22:50524171 [GRCh38]
Chr22:50962600 [GRCh37]
Chr22:22q13.33		 uncertain significance
NC_000022.10:g.(?_50297486)_(51066207_?)del deletion not provided [RCV003116314] Chr22:50297486..51066207 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1063G>A (p.Gly355Ser) single nucleotide variant not provided [RCV004790897] Chr22:50526342 [GRCh38]
Chr22:50964771 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.221C>A (p.Ala74Asp) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV004560093]|Inborn genetic diseases [RCV003162188]|not provided [RCV003129155] Chr22:50524191 [GRCh38]
Chr22:50962620 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1110G>T (p.Gln370His) single nucleotide variant Inborn genetic diseases [RCV004285644]|not provided [RCV003234301] Chr22:50526295 [GRCh38]
Chr22:50964724 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:49602454-51183869) copy number loss Phelan-McDermid syndrome [RCV002280637] Chr22:49602454..51183869 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.296T>G (p.Val99Gly) single nucleotide variant not provided [RCV002276436] Chr22:50524116 [GRCh38]
Chr22:50962545 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1109A>T (p.Gln370Leu) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV002272908] Chr22:50526296 [GRCh38]
Chr22:50964725 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1187C>T (p.Pro396Leu) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV002284032] Chr22:50526114 [GRCh38]
Chr22:50964543 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.250A>G (p.Arg84Gly) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV002288391] Chr22:50524162 [GRCh38]
Chr22:50962591 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.358C>T (p.Arg120Trp) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV002290116]|not provided [RCV003097786] Chr22:50524054 [GRCh38]
Chr22:50962483 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.520G>A (p.Val174Ile) single nucleotide variant not provided [RCV002281330] Chr22:50523892 [GRCh38]
Chr22:50962321 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.202G>C (p.Gly68Arg) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV003148476] Chr22:50524210 [GRCh38]
Chr22:50962639 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1 copy number loss not provided [RCV002472623] Chr22:44178749..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1 copy number loss not provided [RCV002472642] Chr22:45977448..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3 copy number gain not provided [RCV002468433] Chr22:43436847..51188164 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1 copy number loss not provided [RCV002473520] Chr22:45889148..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_001953.5(TYMP):c.1444C>T (p.Gln482Ter) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV002471686]|not provided [RCV004785732] Chr22:50525775 [GRCh38]
Chr22:50964204 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1 copy number loss not provided [RCV002473583] Chr22:44390702..51137629 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_001953.5(TYMP):c.1300+2T>C single nucleotide variant not provided [RCV002750481] Chr22:50525999 [GRCh38]
Chr22:50964428 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.800G>C (p.Ter267Ser) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV005032286]|not provided [RCV002473976] Chr22:50523612 [GRCh38]
Chr22:50962041 [GRCh37]
Chr22:22q13.33		 likely pathogenic|uncertain significance
NM_001953.5(TYMP):c.1338G>A (p.Ala446=) single nucleotide variant not provided [RCV002880510] Chr22:50525881 [GRCh38]
Chr22:50964310 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.417C>G (p.Asp139Glu) single nucleotide variant not provided [RCV003012395] Chr22:50523995 [GRCh38]
Chr22:50962424 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.179G>A (p.Arg60Gln) single nucleotide variant not provided [RCV003015445] Chr22:50524233 [GRCh38]
Chr22:50962662 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.985C>A (p.Arg329=) single nucleotide variant not provided [RCV003013235] Chr22:50526420 [GRCh38]
Chr22:50964849 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.604A>G (p.Ser202Gly) single nucleotide variant not provided [RCV002863027] Chr22:50523808 [GRCh38]
Chr22:50962237 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1284T>C (p.Gly428=) single nucleotide variant not provided [RCV002615247] Chr22:50526017 [GRCh38]
Chr22:50964446 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.514G>T (p.Asp172Tyr) single nucleotide variant not provided [RCV003033367] Chr22:50523898 [GRCh38]
Chr22:50962327 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1174G>C (p.Val392Leu) single nucleotide variant not provided [RCV003076125] Chr22:50526127 [GRCh38]
Chr22:50964556 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1200G>A (p.Val400=) single nucleotide variant not provided [RCV003034730] Chr22:50526101 [GRCh38]
Chr22:50964530 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV002843420] Chr22:50524411 [GRCh38]
Chr22:50962840 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.386G>A (p.Gly129Asp) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV004560006]|not provided [RCV003017750] Chr22:50524026 [GRCh38]
Chr22:50962455 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1208A>G (p.Glu403Gly) single nucleotide variant Inborn genetic diseases [RCV002883714] Chr22:50526093 [GRCh38]
Chr22:50964522 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1247G>A (p.Arg416His) single nucleotide variant not provided [RCV002618705] Chr22:50526054 [GRCh38]
Chr22:50964483 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.519C>T (p.Asp173=) single nucleotide variant not provided [RCV002908395] Chr22:50523893 [GRCh38]
Chr22:50962322 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.87G>A (p.Gln29=) single nucleotide variant not provided [RCV002947925] Chr22:50524325 [GRCh38]
Chr22:50962754 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1160-6C>G single nucleotide variant not provided [RCV002618793] Chr22:50526147 [GRCh38]
Chr22:50964576 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.703G>A (p.Gly235Ser) single nucleotide variant Myopia 6 [RCV004765611]|not provided [RCV002972201] Chr22:50523709 [GRCh38]
Chr22:50962138 [GRCh37]
Chr22:22q13.33		 likely pathogenic|uncertain significance
NM_005138.3(SCO2):c.9G>A (p.Leu3=) single nucleotide variant not provided [RCV002904601] Chr22:50524403 [GRCh38]
Chr22:50962832 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1416C>A (p.Pro472=) single nucleotide variant not provided [RCV003012116] Chr22:50525803 [GRCh38]
Chr22:50964232 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1074A>C (p.Arg358=) single nucleotide variant not provided [RCV002970827] Chr22:50526331 [GRCh38]
Chr22:50964760 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.752_753insTA (p.Asp252fs) insertion not provided [RCV003016089] Chr22:50523659..50523660 [GRCh38]
Chr22:50962088..50962089 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.59G>A (p.Arg20Gln) single nucleotide variant not provided [RCV002617549] Chr22:50524353 [GRCh38]
Chr22:50962782 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.45_46del (p.Gln16fs) microsatellite Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV003475434]|not provided [RCV002838566] Chr22:50524366..50524367 [GRCh38]
Chr22:50962795..50962796 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
NM_005138.3(SCO2):c.759T>C (p.Ser253=) single nucleotide variant not provided [RCV002908570] Chr22:50523653 [GRCh38]
Chr22:50962082 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.413C>G (p.Pro138Arg) single nucleotide variant not provided [RCV002843039] Chr22:50523999 [GRCh38]
Chr22:50962428 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.401C>A (p.Pro134His) single nucleotide variant Inborn genetic diseases [RCV004661536]|not provided [RCV002996343] Chr22:50524011 [GRCh38]
Chr22:50962440 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1421C>T (p.Ala474Val) single nucleotide variant not provided [RCV002755602] Chr22:50525798 [GRCh38]
Chr22:50964227 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.3G>A (p.Met1Ile) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV005034587]|not provided [RCV003033856] Chr22:50524409 [GRCh38]
Chr22:50962838 [GRCh37]
Chr22:22q13.33		 likely pathogenic|uncertain significance
NM_005138.3(SCO2):c.608A>G (p.His203Arg) single nucleotide variant not provided [RCV002947741] Chr22:50523804 [GRCh38]
Chr22:50962233 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.742G>A (p.Glu248Lys) single nucleotide variant Inborn genetic diseases [RCV002905114] Chr22:50523670 [GRCh38]
Chr22:50962099 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.463C>G (p.Pro155Ala) single nucleotide variant not provided [RCV002975260] Chr22:50523949 [GRCh38]
Chr22:50962378 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.79G>A (p.Gly27Arg) single nucleotide variant not provided [RCV002870763] Chr22:50524333 [GRCh38]
Chr22:50962762 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1300+4A>G single nucleotide variant not provided [RCV002622850] Chr22:50525997 [GRCh38]
Chr22:50964426 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.975G>A (p.Gln325=) single nucleotide variant not provided [RCV003039223] Chr22:50526430 [GRCh38]
Chr22:50964859 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.214G>A (p.Gly72Ser) single nucleotide variant Inborn genetic diseases [RCV005273595]|not provided [RCV002640327] Chr22:50524198 [GRCh38]
Chr22:50962627 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.777G>A (p.Ala259=) single nucleotide variant SCO2-related disorder [RCV003943549]|not provided [RCV002886635] Chr22:50523635 [GRCh38]
Chr22:50962064 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1395G>C (p.Ala465=) single nucleotide variant not provided [RCV003021850] Chr22:50525824 [GRCh38]
Chr22:50964253 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.39del (p.Arg13fs) deletion not provided [RCV002825407] Chr22:50524373 [GRCh38]
Chr22:50962802 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.990G>T (p.Val330=) single nucleotide variant not provided [RCV002825414] Chr22:50526415 [GRCh38]
Chr22:50964844 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1160-5C>T single nucleotide variant not provided [RCV002800540] Chr22:50526146 [GRCh38]
Chr22:50964575 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.217G>A (p.Gly73Arg) single nucleotide variant not provided [RCV002695825] Chr22:50524195 [GRCh38]
Chr22:50962624 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1428C>G (p.Leu476=) single nucleotide variant not provided [RCV002740347] Chr22:50525791 [GRCh38]
Chr22:50964220 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.599A>G (p.Gln200Arg) single nucleotide variant Inborn genetic diseases [RCV002708203] Chr22:50523813 [GRCh38]
Chr22:50962242 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1249C>G (p.Leu417Val) single nucleotide variant not provided [RCV002953316] Chr22:50526052 [GRCh38]
Chr22:50964481 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1270C>G (p.Leu424Val) single nucleotide variant not provided [RCV003038246] Chr22:50526031 [GRCh38]
Chr22:50964460 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.234G>A (p.Leu78=) single nucleotide variant not provided [RCV002785843] Chr22:50524178 [GRCh38]
Chr22:50962607 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1347C>T (p.Gly449=) single nucleotide variant not provided [RCV002786013] Chr22:50525872 [GRCh38]
Chr22:50964301 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.705C>A (p.Gly235=) single nucleotide variant not provided [RCV002736502] Chr22:50523707 [GRCh38]
Chr22:50962136 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1159+2T>C single nucleotide variant not provided [RCV002591310] Chr22:50526244 [GRCh38]
Chr22:50964673 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.643G>A (p.Asp215Asn) single nucleotide variant Inborn genetic diseases [RCV002845441] Chr22:50523769 [GRCh38]
Chr22:50962198 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.683T>C (p.Ile228Thr) single nucleotide variant not provided [RCV002797191] Chr22:50523729 [GRCh38]
Chr22:50962158 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1385C>G (p.Ser462Cys) single nucleotide variant not provided [RCV002659473] Chr22:50525834 [GRCh38]
Chr22:50964263 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.215G>A (p.Gly72Asp) single nucleotide variant not provided [RCV003054149] Chr22:50524197 [GRCh38]
Chr22:50962626 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.335G>A (p.Arg112Gln) single nucleotide variant Inborn genetic diseases [RCV003170805]|not provided [RCV002998940] Chr22:50524077 [GRCh38]
Chr22:50962506 [GRCh37]
Chr22:22q13.33		 likely benign|uncertain significance
NM_001953.5(TYMP):c.1304C>T (p.Thr435Ile) single nucleotide variant not provided [RCV003080011] Chr22:50525915 [GRCh38]
Chr22:50964344 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.159G>A (p.Gln53=) single nucleotide variant not provided [RCV002756785] Chr22:50524253 [GRCh38]
Chr22:50962682 [GRCh37]
Chr22:22q13.33		 benign
NM_001953.5(TYMP):c.1110_1111delinsTT (p.Gln370His) indel not provided [RCV002638287] Chr22:50526294..50526295 [GRCh38]
Chr22:50964723..50964724 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.107G>C (p.Trp36Ser) single nucleotide variant not provided [RCV002706423] Chr22:50524305 [GRCh38]
Chr22:50962734 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1381C>G (p.Leu461Val) single nucleotide variant not provided [RCV003052891] Chr22:50525838 [GRCh38]
Chr22:50964267 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1252G>A (p.Gly418Arg) single nucleotide variant not provided [RCV002592797] Chr22:50526049 [GRCh38]
Chr22:50964478 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1301-19dup duplication not provided [RCV003052938] Chr22:50525936..50525937 [GRCh38]
Chr22:50964365..50964366 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1288_1289del (p.Arg430fs) microsatellite not provided [RCV002948761] Chr22:50526012..50526013 [GRCh38]
Chr22:50964441..50964442 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.58C>A (p.Arg20=) single nucleotide variant not provided [RCV002639057] Chr22:50524354 [GRCh38]
Chr22:50962783 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1399T>C (p.Phe467Leu) single nucleotide variant not provided [RCV002706177] Chr22:50525820 [GRCh38]
Chr22:50964249 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.601G>A (p.Ala201Thr) single nucleotide variant not provided [RCV002706761] Chr22:50523811 [GRCh38]
Chr22:50962240 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.202G>A (p.Gly68Arg) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV003108135]|not provided [RCV002953353]|not specified [RCV004690336] Chr22:50524210 [GRCh38]
Chr22:50962639 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.611G>A (p.Ser204Asn) single nucleotide variant not provided [RCV002927176] Chr22:50523801 [GRCh38]
Chr22:50962230 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1160-8_1190del deletion not provided [RCV002796575] Chr22:50526111..50526149 [GRCh38]
Chr22:50964540..50964578 [GRCh37]
Chr22:22q13.33		 likely pathogenic
NM_005138.3(SCO2):c.559A>G (p.Arg187Gly) single nucleotide variant not provided [RCV002736818] Chr22:50523853 [GRCh38]
Chr22:50962282 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1326G>A (p.Arg442=) single nucleotide variant not provided [RCV003077143] Chr22:50525893 [GRCh38]
Chr22:50964322 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.479T>G (p.Val160Gly) single nucleotide variant not provided [RCV002949051] Chr22:50523933 [GRCh38]
Chr22:50962362 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.75C>T (p.Thr25=) single nucleotide variant not provided [RCV002867734] Chr22:50524337 [GRCh38]
Chr22:50962766 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.674C>G (p.Ser225Cys) single nucleotide variant not provided [RCV003024787] Chr22:50523738 [GRCh38]
Chr22:50962167 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.4CTG[4] (p.Leu4_Thr5insLeu) microsatellite not provided [RCV002745663] Chr22:50524399..50524400 [GRCh38]
Chr22:50962828..50962829 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1085C>T (p.Ser362Leu) single nucleotide variant not provided [RCV003007635] Chr22:50526320 [GRCh38]
Chr22:50964749 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.453G>A (p.Leu151=) single nucleotide variant not provided [RCV002627343] Chr22:50523959 [GRCh38]
Chr22:50962388 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.477A>G (p.Pro159=) single nucleotide variant not provided [RCV002919015] Chr22:50523935 [GRCh38]
Chr22:50962364 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1329C>G (p.Asp443Glu) single nucleotide variant not provided [RCV002574342] Chr22:50525890 [GRCh38]
Chr22:50964319 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1278C>T (p.Asp426=) single nucleotide variant not provided [RCV002985453] Chr22:50526023 [GRCh38]
Chr22:50964452 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1076C>T (p.Ala359Val) single nucleotide variant not provided [RCV002982559] Chr22:50526329 [GRCh38]
Chr22:50964758 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1017C>A (p.Ala339=) single nucleotide variant not provided [RCV002594512] Chr22:50526388 [GRCh38]
Chr22:50964817 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.671A>G (p.His224Arg) single nucleotide variant not provided [RCV002624176] Chr22:50523741 [GRCh38]
Chr22:50962170 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.282G>A (p.Leu94=) single nucleotide variant not provided [RCV002740691] Chr22:50524130 [GRCh38]
Chr22:50962559 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1300+15C>T single nucleotide variant not provided [RCV002642260] Chr22:50525986 [GRCh38]
Chr22:50964415 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.549C>T (p.Asp183=) single nucleotide variant not provided [RCV003057892] Chr22:50523863 [GRCh38]
Chr22:50962292 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.726C>T (p.Gly242=) single nucleotide variant not provided [RCV002642683] Chr22:50523686 [GRCh38]
Chr22:50962115 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.426G>A (p.Glu142=) single nucleotide variant not provided [RCV003005013] Chr22:50523986 [GRCh38]
Chr22:50962415 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.471G>A (p.Leu157=) single nucleotide variant not provided [RCV002624515] Chr22:50523941 [GRCh38]
Chr22:50962370 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1181C>T (p.Ala394Val) single nucleotide variant not provided [RCV002711063] Chr22:50526120 [GRCh38]
Chr22:50964549 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1134G>A (p.Gln378=) single nucleotide variant not provided [RCV003025638] Chr22:50526271 [GRCh38]
Chr22:50964700 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1357dup (p.Arg453fs) duplication not provided [RCV003040048] Chr22:50525861..50525862 [GRCh38]
Chr22:50964290..50964291 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1195C>T (p.Leu399=) single nucleotide variant not provided [RCV003025307] Chr22:50526106 [GRCh38]
Chr22:50964535 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.669C>A (p.Asp223Glu) single nucleotide variant not provided [RCV003005931] Chr22:50523743 [GRCh38]
Chr22:50962172 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.597C>G (p.Ala199=) single nucleotide variant not provided [RCV002852541] Chr22:50523815 [GRCh38]
Chr22:50962244 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.283C>G (p.Arg95Gly) single nucleotide variant not provided [RCV002829617] Chr22:50524129 [GRCh38]
Chr22:50962558 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1185G>T (p.Leu395=) single nucleotide variant not provided [RCV002894706] Chr22:50526116 [GRCh38]
Chr22:50964545 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1159+12G>T single nucleotide variant not provided [RCV003082106] Chr22:50526234 [GRCh38]
Chr22:50964663 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.220G>T (p.Ala74Ser) single nucleotide variant not provided [RCV002931830] Chr22:50524192 [GRCh38]
Chr22:50962621 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.335G>T (p.Arg112Leu) single nucleotide variant Inborn genetic diseases [RCV002665454] Chr22:50524077 [GRCh38]
Chr22:50962506 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.767G>A (p.Arg256Gln) single nucleotide variant Inborn genetic diseases [RCV002891022]|not provided [RCV002891021] Chr22:50523645 [GRCh38]
Chr22:50962074 [GRCh37]
Chr22:22q13.33		 likely benign|uncertain significance
NM_005138.3(SCO2):c.586A>C (p.Lys196Gln) single nucleotide variant not provided [RCV002953969] Chr22:50523826 [GRCh38]
Chr22:50962255 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.998C>T (p.Ala333Val) single nucleotide variant not provided [RCV002852960] Chr22:50526407 [GRCh38]
Chr22:50964836 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.562C>T (p.Leu188=) single nucleotide variant not provided [RCV002644098] Chr22:50523850 [GRCh38]
Chr22:50962279 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.27A>C (p.Thr9=) single nucleotide variant not provided [RCV002928661] Chr22:50524385 [GRCh38]
Chr22:50962814 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.162C>A (p.Gly54=) single nucleotide variant not provided [RCV002876242] Chr22:50524250 [GRCh38]
Chr22:50962679 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.963G>C (p.Gly321=) single nucleotide variant not provided [RCV002899984] Chr22:50526442 [GRCh38]
Chr22:50964871 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1097C>T (p.Ala366Val) single nucleotide variant not provided [RCV003092058] Chr22:50526308 [GRCh38]
Chr22:50964737 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1066C>T (p.Leu356=) single nucleotide variant not provided [RCV002962866] Chr22:50526339 [GRCh38]
Chr22:50964768 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.341G>C (p.Arg114Pro) single nucleotide variant not provided [RCV003010406] Chr22:50524071 [GRCh38]
Chr22:50962500 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1041G>A (p.Leu347=) single nucleotide variant not provided [RCV003049204] Chr22:50526364 [GRCh38]
Chr22:50964793 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1051G>A (p.Gly351Ser) single nucleotide variant not provided [RCV003049465] Chr22:50526354 [GRCh38]
Chr22:50964783 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1300+16G>A single nucleotide variant not provided [RCV003090191] Chr22:50525985 [GRCh38]
Chr22:50964414 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.188T>C (p.Ile63Thr) single nucleotide variant not provided [RCV002675789] Chr22:50524224 [GRCh38]
Chr22:50962653 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1098A>G (p.Ala366=) single nucleotide variant not provided [RCV002806930] Chr22:50526307 [GRCh38]
Chr22:50964736 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.618C>T (p.Arg206=) single nucleotide variant not provided [RCV003049008] Chr22:50523794 [GRCh38]
Chr22:50962223 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1095C>T (p.Pro365=) single nucleotide variant not provided [RCV003046984] Chr22:50526310 [GRCh38]
Chr22:50964739 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1438C>G (p.Pro480Ala) single nucleotide variant Inborn genetic diseases [RCV004066861]|not provided [RCV002676384] Chr22:50525781 [GRCh38]
Chr22:50964210 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1327G>A (p.Asp443Asn) single nucleotide variant not provided [RCV002647757] Chr22:50525892 [GRCh38]
Chr22:50964321 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.180G>C (p.Arg60=) single nucleotide variant not provided [RCV003026866] Chr22:50524232 [GRCh38]
Chr22:50962661 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.978C>A (p.Gly326=) single nucleotide variant not provided [RCV002834298] Chr22:50526427 [GRCh38]
Chr22:50964856 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1405G>T (p.Ala469Ser) single nucleotide variant not provided [RCV002649334] Chr22:50525814 [GRCh38]
Chr22:50964243 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1222C>T (p.Arg408Cys) single nucleotide variant not provided [RCV003009793] Chr22:50526079 [GRCh38]
Chr22:50964508 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1386C>A (p.Ser462=) single nucleotide variant not provided [RCV003061522] Chr22:50525833 [GRCh38]
Chr22:50964262 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.481C>T (p.Gln161Ter) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV003475398]|not provided [RCV002578538] Chr22:50523931 [GRCh38]
Chr22:50962360 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
NM_001953.5(TYMP):c.1206C>T (p.His402=) single nucleotide variant not provided [RCV003009929] Chr22:50526095 [GRCh38]
Chr22:50964524 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.708C>G (p.Leu236=) single nucleotide variant not provided [RCV002647830] Chr22:50523704 [GRCh38]
Chr22:50962133 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1017C>G (p.Ala339=) single nucleotide variant not provided [RCV002832962] Chr22:50526388 [GRCh38]
Chr22:50964817 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.232C>T (p.Leu78=) single nucleotide variant not provided [RCV003086750] Chr22:50524180 [GRCh38]
Chr22:50962609 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.254T>A (p.Leu85Gln) single nucleotide variant Inborn genetic diseases [RCV004661603]|not provided [RCV002629980] Chr22:50524158 [GRCh38]
Chr22:50962587 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1160-15C>G single nucleotide variant not provided [RCV002631881] Chr22:50526156 [GRCh38]
Chr22:50964585 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.358C>G (p.Arg120Gly) single nucleotide variant not provided [RCV002938596] Chr22:50524054 [GRCh38]
Chr22:50962483 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.327C>G (p.His109Gln) single nucleotide variant not provided [RCV002597967] Chr22:50524085 [GRCh38]
Chr22:50962514 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.128C>T (p.Pro43Leu) single nucleotide variant Inborn genetic diseases [RCV004066168]|not provided [RCV002900623] Chr22:50524284 [GRCh38]
Chr22:50962713 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.39G>C (p.Arg13Ser) single nucleotide variant Inborn genetic diseases [RCV004958699]|not provided [RCV002676309] Chr22:50524373 [GRCh38]
Chr22:50962802 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.557C>G (p.Pro186Arg) single nucleotide variant not provided [RCV002856782] Chr22:50523855 [GRCh38]
Chr22:50962284 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1255G>A (p.Val419Met) single nucleotide variant Inborn genetic diseases [RCV004069068]|not provided [RCV002632540] Chr22:50526046 [GRCh38]
Chr22:50964475 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.747G>C (p.Gln249His) single nucleotide variant not provided [RCV002604451] Chr22:50523665 [GRCh38]
Chr22:50962094 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.544C>T (p.Gln182Ter) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV003475480]|not provided [RCV003052197] Chr22:50523868 [GRCh38]
Chr22:50962297 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1159+16G>A single nucleotide variant not provided [RCV003051478] Chr22:50526230 [GRCh38]
Chr22:50964659 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.991G>A (p.Ala331Thr) single nucleotide variant not provided [RCV003093382] Chr22:50526414 [GRCh38]
Chr22:50964843 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1040T>C (p.Leu347Pro) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV003147815]|not provided [RCV003050585] Chr22:50526365 [GRCh38]
Chr22:50964794 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
NM_001953.5(TYMP):c.1160-16G>A single nucleotide variant not provided [RCV002654967] Chr22:50526157 [GRCh38]
Chr22:50964586 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1241C>A (p.Pro414Gln) single nucleotide variant not provided [RCV003052731] Chr22:50526060 [GRCh38]
Chr22:50964489 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1160-8C>G single nucleotide variant not provided [RCV002636016] Chr22:50526149 [GRCh38]
Chr22:50964578 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.577G>A (p.Gly193Ser) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV003235733]|Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV005032330]|not provided [RCV002608443] Chr22:50523835 [GRCh38]
Chr22:50962264 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
NM_001953.5(TYMP):c.1327G>C (p.Asp443His) single nucleotide variant not provided [RCV003067754] Chr22:50525892 [GRCh38]
Chr22:50964321 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1207G>A (p.Glu403Lys) single nucleotide variant not provided [RCV002654876] Chr22:50526094 [GRCh38]
Chr22:50964523 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.659A>G (p.Tyr220Cys) single nucleotide variant not provided [RCV002608706] Chr22:50523753 [GRCh38]
Chr22:50962182 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.522T>C (p.Val174=) single nucleotide variant not provided [RCV002583829] Chr22:50523890 [GRCh38]
Chr22:50962319 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.724G>C (p.Gly242Arg) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV005399090]|not provided [RCV003069297] Chr22:50523688 [GRCh38]
Chr22:50962117 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1246C>T (p.Arg416Cys) single nucleotide variant not provided [RCV002607433] Chr22:50526055 [GRCh38]
Chr22:50964484 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.342C>T (p.Arg114=) single nucleotide variant not provided [RCV002589387] Chr22:50524070 [GRCh38]
Chr22:50962499 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1047G>A (p.Ala349=) single nucleotide variant not provided [RCV002725525] Chr22:50526358 [GRCh38]
Chr22:50964787 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.59G>T (p.Arg20Leu) single nucleotide variant not provided [RCV002585822] Chr22:50524353 [GRCh38]
Chr22:50962782 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.480G>A (p.Val160=) single nucleotide variant not provided [RCV002586199] Chr22:50523932 [GRCh38]
Chr22:50962361 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.610dup (p.Ser204fs) duplication Inborn genetic diseases [RCV003279885] Chr22:50523801..50523802 [GRCh38]
Chr22:50962230..50962231 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.21C>A (p.Ser7Arg) single nucleotide variant Inborn genetic diseases [RCV003195452] Chr22:50524391 [GRCh38]
Chr22:50962820 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.679G>A (p.Ala227Thr) single nucleotide variant not provided [RCV003136530] Chr22:50523733 [GRCh38]
Chr22:50962162 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.686A>G (p.Tyr229Cys) single nucleotide variant not provided [RCV003136531] Chr22:50523726 [GRCh38]
Chr22:50962155 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.490T>G (p.Phe164Val) single nucleotide variant not provided [RCV003136532] Chr22:50523922 [GRCh38]
Chr22:50962351 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.737C>T (p.Ser246Leu) single nucleotide variant Inborn genetic diseases [RCV003287996]|not provided [RCV004763637] Chr22:50523675 [GRCh38]
Chr22:50962104 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1 copy number loss Phelan-McDermid syndrome [RCV003327722] Chr22:49757859..50740457 [GRCh38]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50014114-51244066)x1 copy number loss Chromosome 22q13 duplication syndrome [RCV003329540] Chr22:50014114..51244066 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1241C>G (p.Pro414Arg) single nucleotide variant Inborn genetic diseases [RCV003364460] Chr22:50526060 [GRCh38]
Chr22:50964489 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1174G>T (p.Val392Phe) single nucleotide variant Inborn genetic diseases [RCV003352371] Chr22:50526127 [GRCh38]
Chr22:50964556 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1085C>A (p.Ser362Ter) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV003464756] Chr22:50526320 [GRCh38]
Chr22:50964749 [GRCh37]
Chr22:22q13.33		 likely pathogenic
NM_005138.3(SCO2):c.438_439dup (p.Val147fs) duplication not provided [RCV003686262] Chr22:50523972..50523973 [GRCh38]
Chr22:50962401..50962402 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.753A>G (p.Ser251=) single nucleotide variant not provided [RCV003686423] Chr22:50523659 [GRCh38]
Chr22:50962088 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1255dup (p.Val419fs) duplication not provided [RCV003873111] Chr22:50526045..50526046 [GRCh38]
Chr22:50964474..50964475 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.514_515dup (p.Asp172fs) duplication Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV003472601] Chr22:50523896..50523897 [GRCh38]
Chr22:50962325..50962326 [GRCh37]
Chr22:22q13.33		 likely pathogenic
NM_005138.3(SCO2):c.233_236delinsA (p.Leu78_Arg79delinsGln) indel Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV003472604]|SCO2-related disorder [RCV004731537] Chr22:50524176..50524179 [GRCh38]
Chr22:50962605..50962608 [GRCh37]
Chr22:22q13.33		 likely pathogenic|uncertain significance
NM_005138.3(SCO2):c.84C>T (p.Gly28=) single nucleotide variant not provided [RCV003690890] Chr22:50524328 [GRCh38]
Chr22:50962757 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.999G>A (p.Ala333=) single nucleotide variant not provided [RCV003875322] Chr22:50526406 [GRCh38]
Chr22:50964835 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1281G>C (p.Val427=) single nucleotide variant not provided [RCV003715778] Chr22:50526020 [GRCh38]
Chr22:50964449 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.498T>C (p.Thr166=) single nucleotide variant not provided [RCV003875342] Chr22:50523914 [GRCh38]
Chr22:50962343 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1116G>A (p.Leu372=) single nucleotide variant not provided [RCV003730023] Chr22:50526289 [GRCh38]
Chr22:50964718 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1077C>A (p.Ala359=) single nucleotide variant TYMP-related disorder [RCV004753702]|not provided [RCV003679413] Chr22:50526328 [GRCh38]
Chr22:50964757 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.963G>T (p.Gly321=) single nucleotide variant not provided [RCV003732614] Chr22:50526442 [GRCh38]
Chr22:50964871 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1301-12C>G single nucleotide variant not provided [RCV003733260] Chr22:50525930 [GRCh38]
Chr22:50964359 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1329C>T (p.Asp443=) single nucleotide variant not provided [RCV003733678] Chr22:50525890 [GRCh38]
Chr22:50964319 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1159+12G>C single nucleotide variant not provided [RCV003738956] Chr22:50526234 [GRCh38]
Chr22:50964663 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1014G>A (p.Ser338=) single nucleotide variant not provided [RCV003739387] Chr22:50526391 [GRCh38]
Chr22:50964820 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.186G>T (p.Leu62=) single nucleotide variant not provided [RCV003571768] Chr22:50524226 [GRCh38]
Chr22:50962655 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1167G>A (p.Val389=) single nucleotide variant not provided [RCV003684023] Chr22:50526134 [GRCh38]
Chr22:50964563 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1160-11T>A single nucleotide variant not provided [RCV003719119] Chr22:50526152 [GRCh38]
Chr22:50964581 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1159+14G>A single nucleotide variant not provided [RCV003735590] Chr22:50526232 [GRCh38]
Chr22:50964661 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1425G>A (p.Glu475=) single nucleotide variant not provided [RCV003663220] Chr22:50525794 [GRCh38]
Chr22:50964223 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1160-6C>T single nucleotide variant not provided [RCV003684808] Chr22:50526147 [GRCh38]
Chr22:50964576 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1212C>G (p.Leu404=) single nucleotide variant not provided [RCV003690174] Chr22:50526089 [GRCh38]
Chr22:50964518 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1191G>A (p.Leu397=) single nucleotide variant not provided [RCV003690809] Chr22:50526110 [GRCh38]
Chr22:50964539 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1300+8C>A single nucleotide variant not provided [RCV003695527] Chr22:50525993 [GRCh38]
Chr22:50964422 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1011C>A (p.Gly337=) single nucleotide variant not provided [RCV003721295] Chr22:50526394 [GRCh38]
Chr22:50964823 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1078del (p.Leu360fs) deletion not provided [RCV003692392] Chr22:50526327 [GRCh38]
Chr22:50964756 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1159+11G>C single nucleotide variant not provided [RCV003731936] Chr22:50526235 [GRCh38]
Chr22:50964664 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1386C>G (p.Ser462=) single nucleotide variant not provided [RCV003699930] Chr22:50525833 [GRCh38]
Chr22:50964262 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1030G>T (p.Glu344Ter) single nucleotide variant not provided [RCV003700478] Chr22:50526375 [GRCh38]
Chr22:50964804 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1215G>C (p.Gly405=) single nucleotide variant not provided [RCV003679931] Chr22:50526086 [GRCh38]
Chr22:50964515 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1249C>T (p.Leu417=) single nucleotide variant not provided [RCV003687020] Chr22:50526052 [GRCh38]
Chr22:50964481 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1179G>A (p.Arg393=) single nucleotide variant not provided [RCV003693598] Chr22:50526122 [GRCh38]
Chr22:50964551 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1437G>T (p.Pro479=) single nucleotide variant not provided [RCV003660699] Chr22:50525782 [GRCh38]
Chr22:50964211 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1026C>G (p.Arg342=) single nucleotide variant not provided [RCV003676043] Chr22:50526379 [GRCh38]
Chr22:50964808 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1301-13C>T single nucleotide variant not provided [RCV003676958] Chr22:50525931 [GRCh38]
Chr22:50964360 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.987G>A (p.Arg329=) single nucleotide variant not provided [RCV003707527] Chr22:50526418 [GRCh38]
Chr22:50964847 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1332C>G (p.Gly444=) single nucleotide variant not provided [RCV003707878] Chr22:50525887 [GRCh38]
Chr22:50964316 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1160-19T>C single nucleotide variant not provided [RCV003722250] Chr22:50526160 [GRCh38]
Chr22:50964589 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1301-20A>G single nucleotide variant not provided [RCV003722305] Chr22:50525938 [GRCh38]
Chr22:50964367 [GRCh37]
Chr22:22q13.33		 likely benign
GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1 copy number loss not provided [RCV003483399] Chr22:45611226..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_001953.5(TYMP):c.1159+13G>A single nucleotide variant not provided [RCV003668982] Chr22:50526233 [GRCh38]
Chr22:50964662 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1272G>A (p.Leu424=) single nucleotide variant not provided [RCV003711263] Chr22:50526029 [GRCh38]
Chr22:50964458 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1160-17A>G single nucleotide variant not provided [RCV003737397] Chr22:50526158 [GRCh38]
Chr22:50964587 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1086G>A (p.Ser362=) single nucleotide variant not provided [RCV003706661] Chr22:50526319 [GRCh38]
Chr22:50964748 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1201C>T (p.Leu401=) single nucleotide variant not provided [RCV003724636] Chr22:50526100 [GRCh38]
Chr22:50964529 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1161C>T (p.Gly387=) single nucleotide variant not provided [RCV003725440] Chr22:50526140 [GRCh38]
Chr22:50964569 [GRCh37]
Chr22:22q13.33		 likely benign
GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3 copy number gain not provided [RCV003485247] Chr22:45657164..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_005138.3(SCO2):c.180G>A (p.Arg60=) single nucleotide variant not provided [RCV003568895] Chr22:50524232 [GRCh38]
Chr22:50962661 [GRCh37]
Chr22:22q13.33		 likely benign
GRCh37/hg19 22q13.33(chr22:50661573-51166665)x3 copy number gain not provided [RCV003485250] Chr22:50661573..51166665 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:50797048-51044946)x3 copy number gain not provided [RCV003485251] Chr22:50797048..51044946 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.-812G>A single nucleotide variant not specified [RCV003479977] Chr22:50526270 [GRCh38]
Chr22:50964699 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.225G>A (p.Trp75Ter) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV003472600]|not provided [RCV005100222] Chr22:50524187 [GRCh38]
Chr22:50962616 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
NM_001953.5(TYMP):c.1165G>A (p.Val389Met) single nucleotide variant not provided [RCV003437697] Chr22:50526136 [GRCh38]
Chr22:50964565 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.672_682del (p.Ser225fs) deletion Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV003472603] Chr22:50523730..50523740 [GRCh38]
Chr22:50962159..50962169 [GRCh37]
Chr22:22q13.33		 likely pathogenic
NM_005138.3(SCO2):c.385G>A (p.Gly129Ser) single nucleotide variant SCO2-related disorder [RCV003402108] Chr22:50524027 [GRCh38]
Chr22:50962456 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.609_610del (p.His203fs) microsatellite Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV003472602] Chr22:50523802..50523803 [GRCh38]
Chr22:50962231..50962232 [GRCh37]
Chr22:22q13.33		 likely pathogenic
NM_005138.3(SCO2):c.790G>A (p.Val264Ile) single nucleotide variant not provided [RCV003433349] Chr22:50523622 [GRCh38]
Chr22:50962051 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.269G>A (p.Arg90Gln) single nucleotide variant not provided [RCV003433350] Chr22:50524143 [GRCh38]
Chr22:50962572 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1 copy number loss not provided [RCV003457366] Chr22:43820992..51218654 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_005138.3(SCO2):c.750_756dup (p.Ser253fs) duplication not provided [RCV003441698] Chr22:50523655..50523656 [GRCh38]
Chr22:50962084..50962085 [GRCh37]
Chr22:22q13.33		 likely pathogenic
NM_005138.3(SCO2):c.387_388del (p.Phe130fs) deletion not provided [RCV003576790] Chr22:50524024..50524025 [GRCh38]
Chr22:50962453..50962454 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1182G>A (p.Ala394=) single nucleotide variant not provided [RCV003826745] Chr22:50526119 [GRCh38]
Chr22:50964548 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.684C>T (p.Ile228=) single nucleotide variant not provided [RCV003696599] Chr22:50523728 [GRCh38]
Chr22:50962157 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.169_191dup (p.Thr64_Gly65insPheGluProGlyCysTer) duplication not provided [RCV003579514] Chr22:50524220..50524221 [GRCh38]
Chr22:50962649..50962650 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.438G>A (p.Gln146=) single nucleotide variant not provided [RCV003692129] Chr22:50523974 [GRCh38]
Chr22:50962403 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.250_251del (p.Arg84fs) microsatellite not provided [RCV003826218] Chr22:50524161..50524162 [GRCh38]
Chr22:50962590..50962591 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.711C>T (p.Phe237=) single nucleotide variant not provided [RCV003696534] Chr22:50523701 [GRCh38]
Chr22:50962130 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.564G>C (p.Leu188=) single nucleotide variant not provided [RCV003694891] Chr22:50523848 [GRCh38]
Chr22:50962277 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1221G>A (p.Gly407=) single nucleotide variant not provided [RCV003831772] Chr22:50526080 [GRCh38]
Chr22:50964509 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.357C>T (p.Phe119=) single nucleotide variant not provided [RCV003696797] Chr22:50524055 [GRCh38]
Chr22:50962484 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.993C>T (p.Ala331=) single nucleotide variant not provided [RCV003565115] Chr22:50526412 [GRCh38]
Chr22:50964841 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.282G>C (p.Leu94=) single nucleotide variant not provided [RCV003689598] Chr22:50524130 [GRCh38]
Chr22:50962559 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.441G>A (p.Val147=) single nucleotide variant not provided [RCV003694199] Chr22:50523971 [GRCh38]
Chr22:50962400 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.525A>G (p.Glu175=) single nucleotide variant not provided [RCV003692573] Chr22:50523887 [GRCh38]
Chr22:50962316 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.195C>T (p.Gly65=) single nucleotide variant not provided [RCV003688200] Chr22:50524217 [GRCh38]
Chr22:50962646 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1095C>A (p.Pro365=) single nucleotide variant not provided [RCV003544135] Chr22:50526310 [GRCh38]
Chr22:50964739 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.645T>C (p.Asp215=) single nucleotide variant not provided [RCV003714077] Chr22:50523767 [GRCh38]
Chr22:50962196 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.243G>A (p.Glu81=) single nucleotide variant not provided [RCV003545913] Chr22:50524169 [GRCh38]
Chr22:50962598 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1215_1224dup (p.Ser409fs) duplication not provided [RCV003559537] Chr22:50526076..50526077 [GRCh38]
Chr22:50964505..50964506 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.687C>T (p.Tyr229=) single nucleotide variant not provided [RCV003661104] Chr22:50523725 [GRCh38]
Chr22:50962154 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.618C>G (p.Arg206=) single nucleotide variant not provided [RCV003688695] Chr22:50523794 [GRCh38]
Chr22:50962223 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.66C>A (p.Leu22=) single nucleotide variant not provided [RCV003696140] Chr22:50524346 [GRCh38]
Chr22:50962775 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.184C>T (p.Leu62=) single nucleotide variant not provided [RCV003696177] Chr22:50524228 [GRCh38]
Chr22:50962657 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.12G>A (p.Leu4=) single nucleotide variant not provided [RCV003714569] Chr22:50524400 [GRCh38]
Chr22:50962829 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1226del (p.Ser409fs) deletion not provided [RCV003547036] Chr22:50526075 [GRCh38]
Chr22:50964504 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1159+19C>T single nucleotide variant not provided [RCV003575730] Chr22:50526227 [GRCh38]
Chr22:50964656 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.501G>A (p.Val167=) single nucleotide variant not provided [RCV003575282] Chr22:50523911 [GRCh38]
Chr22:50962340 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.102G>A (p.Arg34=) single nucleotide variant not provided [RCV003714576] Chr22:50524310 [GRCh38]
Chr22:50962739 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1301-14C>T single nucleotide variant not provided [RCV003881228] Chr22:50525932 [GRCh38]
Chr22:50964361 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.780T>C (p.Ala260=) single nucleotide variant not provided [RCV003879913] Chr22:50523632 [GRCh38]
Chr22:50962061 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1405G>A (p.Ala469Thr) single nucleotide variant not provided [RCV003876818] Chr22:50525814 [GRCh38]
Chr22:50964243 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.116C>A (p.Ser39Ter) single nucleotide variant not provided [RCV003571999] Chr22:50524296 [GRCh38]
Chr22:50962725 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1035G>T (p.Arg345=) single nucleotide variant not provided [RCV003572835] Chr22:50526370 [GRCh38]
Chr22:50964799 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1250del (p.Leu417fs) deletion not provided [RCV003573753] Chr22:50526051 [GRCh38]
Chr22:50964480 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.156C>G (p.Pro52=) single nucleotide variant not provided [RCV003715748] Chr22:50524256 [GRCh38]
Chr22:50962685 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.539dup (p.Tyr180Ter) duplication not provided [RCV003665865] Chr22:50523872..50523873 [GRCh38]
Chr22:50962301..50962302 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1159+14G>C single nucleotide variant not provided [RCV003811166] Chr22:50526232 [GRCh38]
Chr22:50964661 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.59_60delinsCA (p.Arg20Pro) indel not provided [RCV003717163] Chr22:50524352..50524353 [GRCh38]
Chr22:50962781..50962782 [GRCh37]
Chr22:22q13.33		 likely benign|conflicting interpretations of pathogenicity
NM_005138.3(SCO2):c.116_131dup (p.Glu45fs) duplication not provided [RCV003557768] Chr22:50524280..50524281 [GRCh38]
Chr22:50962709..50962710 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.800G>A (p.Ter267=) single nucleotide variant not provided [RCV003726080] Chr22:50523612 [GRCh38]
Chr22:50962041 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.210A>G (p.Gly70=) single nucleotide variant not provided [RCV003725847] Chr22:50524202 [GRCh38]
Chr22:50962631 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.172C>T (p.Arg58Ter) single nucleotide variant not provided [RCV003665537] Chr22:50524240 [GRCh38]
Chr22:50962669 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.69T>C (p.Pro23=) single nucleotide variant not provided [RCV003664537] Chr22:50524343 [GRCh38]
Chr22:50962772 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.121C>T (p.Gln41Ter) single nucleotide variant not provided [RCV003664994] Chr22:50524291 [GRCh38]
Chr22:50962720 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.447G>A (p.Arg149=) single nucleotide variant not provided [RCV003670321] Chr22:50523965 [GRCh38]
Chr22:50962394 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.401_402del (p.Pro134fs) deletion Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV004574113]|Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV005036893]|not provided [RCV003560181] Chr22:50524010..50524011 [GRCh38]
Chr22:50962439..50962440 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
NM_005138.3(SCO2):c.198G>C (p.Leu66=) single nucleotide variant not provided [RCV003697708] Chr22:50524214 [GRCh38]
Chr22:50962643 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.690G>C (p.Leu230=) single nucleotide variant not provided [RCV003558995] Chr22:50523722 [GRCh38]
Chr22:50962151 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.423G>T (p.Leu141=) single nucleotide variant not provided [RCV003855462] Chr22:50523989 [GRCh38]
Chr22:50962418 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1141C>T (p.Leu381=) single nucleotide variant not provided [RCV003840111] Chr22:50526264 [GRCh38]
Chr22:50964693 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.183G>A (p.Leu61=) single nucleotide variant not provided [RCV003856207] Chr22:50524229 [GRCh38]
Chr22:50962658 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.364C>T (p.Gln122Ter) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV004574076]|not provided [RCV003559074] Chr22:50524048 [GRCh38]
Chr22:50962477 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
NM_005138.3(SCO2):c.741T>G (p.Ala247=) single nucleotide variant not provided [RCV003668937] Chr22:50523671 [GRCh38]
Chr22:50962100 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.270A>G (p.Arg90=) single nucleotide variant not provided [RCV003702256] Chr22:50524142 [GRCh38]
Chr22:50962571 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.579C>T (p.Gly193=) single nucleotide variant not provided [RCV003666992] Chr22:50523833 [GRCh38]
Chr22:50962262 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.660C>T (p.Tyr220=) single nucleotide variant not provided [RCV003854326] Chr22:50523752 [GRCh38]
Chr22:50962181 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.639C>T (p.Pro213=) single nucleotide variant not provided [RCV003701443] Chr22:50523773 [GRCh38]
Chr22:50962202 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.181C>T (p.Leu61=) single nucleotide variant not provided [RCV003559561] Chr22:50524231 [GRCh38]
Chr22:50962660 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.699T>C (p.Pro233=) single nucleotide variant not provided [RCV003550277] Chr22:50523713 [GRCh38]
Chr22:50962142 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.330_331del (p.Gly111fs) microsatellite not provided [RCV003671284] Chr22:50524081..50524082 [GRCh38]
Chr22:50962510..50962511 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.445dup (p.Arg149fs) duplication not provided [RCV003665298] Chr22:50523966..50523967 [GRCh38]
Chr22:50962395..50962396 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_001953.5(TYMP):c.1260C>T (p.Gly420=) single nucleotide variant not provided [RCV003835424] Chr22:50526041 [GRCh38]
Chr22:50964470 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.204G>A (p.Gly68=) single nucleotide variant not provided [RCV003708274] Chr22:50524208 [GRCh38]
Chr22:50962637 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.54G>A (p.Lys18=) single nucleotide variant not provided [RCV003843676] Chr22:50524358 [GRCh38]
Chr22:50962787 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.141T>A (p.Gly47=) single nucleotide variant not provided [RCV003679960] Chr22:50524271 [GRCh38]
Chr22:50962700 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.74_81del (p.Thr25fs) microsatellite not provided [RCV003554371] Chr22:50524331..50524338 [GRCh38]
Chr22:50962760..50962767 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.555C>T (p.His185=) single nucleotide variant not provided [RCV003711285] Chr22:50523857 [GRCh38]
Chr22:50962286 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.633A>T (p.Ala211=) single nucleotide variant not provided [RCV003840615] Chr22:50523779 [GRCh38]
Chr22:50962208 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1428C>A (p.Leu476=) single nucleotide variant not provided [RCV003822154] Chr22:50525791 [GRCh38]
Chr22:50964220 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.178C>A (p.Arg60=) single nucleotide variant not provided [RCV003567961] Chr22:50524234 [GRCh38]
Chr22:50962663 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.232_233del (p.Leu78fs) deletion not provided [RCV003676391] Chr22:50524179..50524180 [GRCh38]
Chr22:50962608..50962609 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.213C>T (p.Leu71=) single nucleotide variant not provided [RCV003735911] Chr22:50524199 [GRCh38]
Chr22:50962628 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.15T>C (p.Thr5=) single nucleotide variant not provided [RCV003677533] Chr22:50524397 [GRCh38]
Chr22:50962826 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.213C>G (p.Leu71=) single nucleotide variant not provided [RCV003541840] Chr22:50524199 [GRCh38]
Chr22:50962628 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.27A>G (p.Thr9=) single nucleotide variant not provided [RCV003681660] Chr22:50524385 [GRCh38]
Chr22:50962814 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.543C>G (p.Val181=) single nucleotide variant not provided [RCV003679659] Chr22:50523869 [GRCh38]
Chr22:50962298 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.150C>T (p.Gly50=) single nucleotide variant not provided [RCV003557167] Chr22:50524262 [GRCh38]
Chr22:50962691 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.777G>C (p.Ala259=) single nucleotide variant not provided [RCV003737222] Chr22:50523635 [GRCh38]
Chr22:50962064 [GRCh37]
Chr22:22q13.33		 likely benign
GRCh37/hg19 22q13.31-13.33(chr22:48218869-51197838)x1 copy number loss not specified [RCV003986172] Chr22:48218869..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_005138.3(SCO2):c.219G>A (p.Gly73=) single nucleotide variant not provided [RCV003719422] Chr22:50524193 [GRCh38]
Chr22:50962622 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.727C>A (p.Arg243=) single nucleotide variant not provided [RCV003566697] Chr22:50523685 [GRCh38]
Chr22:50962114 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.486T>C (p.Pro162=) single nucleotide variant not provided [RCV003867236] Chr22:50523926 [GRCh38]
Chr22:50962355 [GRCh37]
Chr22:22q13.33		 likely benign
GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329) copy number loss Phelan-McDermid syndrome [RCV003986080] Chr22:44549957..50789329 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NM_005138.3(SCO2):c.186G>C (p.Leu62=) single nucleotide variant not provided [RCV003567287] Chr22:50524226 [GRCh38]
Chr22:50962655 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.153G>A (p.Gln51=) single nucleotide variant not provided [RCV003854186] Chr22:50524259 [GRCh38]
Chr22:50962688 [GRCh37]
Chr22:22q13.33		 likely benign
GRCh37/hg19 22q13.33(chr22:49434634-51197838)x1 copy number loss not specified [RCV003986170] Chr22:49434634..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1 copy number loss not specified [RCV003986178] Chr22:44034281..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1 copy number loss not specified [RCV003986180] Chr22:43107363..51156692 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_005138.3(SCO2):c.66C>T (p.Leu22=) single nucleotide variant not provided [RCV003868765] Chr22:50524346 [GRCh38]
Chr22:50962775 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1377C>G (p.Leu459=) single nucleotide variant not provided [RCV003868833] Chr22:50525842 [GRCh38]
Chr22:50964271 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.384T>C (p.Phe128=) single nucleotide variant not provided [RCV003683725] Chr22:50524028 [GRCh38]
Chr22:50962457 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.714G>T (p.Thr238=) single nucleotide variant not provided [RCV003720984] Chr22:50523698 [GRCh38]
Chr22:50962127 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.228G>A (p.Leu76=) single nucleotide variant not provided [RCV003722275] Chr22:50524184 [GRCh38]
Chr22:50962613 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.90C>G (p.Ala30=) single nucleotide variant not provided [RCV003684901] Chr22:50524322 [GRCh38]
Chr22:50962751 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.252G>A (p.Arg84=) single nucleotide variant not provided [RCV003557277] Chr22:50524160 [GRCh38]
Chr22:50962589 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.390C>T (p.Phe130=) single nucleotide variant not provided [RCV003683971] Chr22:50524022 [GRCh38]
Chr22:50962451 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.172C>G (p.Arg58Gly) single nucleotide variant not provided [RCV003670877] Chr22:50524240 [GRCh38]
Chr22:50962669 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.358del (p.Arg120fs) deletion not provided [RCV003870176] Chr22:50524054 [GRCh38]
Chr22:50962483 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.135G>A (p.Glu45=) single nucleotide variant not provided [RCV003861901] Chr22:50524277 [GRCh38]
Chr22:50962706 [GRCh37]
Chr22:22q13.33		 likely benign
GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1 copy number loss not specified [RCV003986171] Chr22:44502872..51183871 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_005138.3(SCO2):c.373C>T (p.Leu125=) single nucleotide variant not provided [RCV003843894] Chr22:50524039 [GRCh38]
Chr22:50962468 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.423G>A (p.Leu141=) single nucleotide variant not provided [RCV003710777] Chr22:50523989 [GRCh38]
Chr22:50962418 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.358C>A (p.Arg120=) single nucleotide variant not provided [RCV003862467] Chr22:50524054 [GRCh38]
Chr22:50962483 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1392C>T (p.Arg464=) single nucleotide variant not provided [RCV003858980] Chr22:50525827 [GRCh38]
Chr22:50964256 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.250A>C (p.Arg84=) single nucleotide variant not provided [RCV003711189] Chr22:50524162 [GRCh38]
Chr22:50962591 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1407C>A (p.Ala469=) single nucleotide variant not provided [RCV003859167] Chr22:50525812 [GRCh38]
Chr22:50964241 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.108G>A (p.Trp36Ter) single nucleotide variant not provided [RCV003675561] Chr22:50524304 [GRCh38]
Chr22:50962733 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.333C>T (p.Gly111=) single nucleotide variant not provided [RCV003566103] Chr22:50524079 [GRCh38]
Chr22:50962508 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.186G>A (p.Leu62=) single nucleotide variant not provided [RCV003565796] Chr22:50524226 [GRCh38]
Chr22:50962655 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.177C>T (p.Thr59=) single nucleotide variant not provided [RCV003821808] Chr22:50524235 [GRCh38]
Chr22:50962664 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1300+15dup duplication not provided [RCV003820755] Chr22:50525985..50525986 [GRCh38]
Chr22:50964414..50964415 [GRCh37]
Chr22:22q13.33		 benign
NM_001953.5(TYMP):c.1407C>T (p.Ala469=) single nucleotide variant not provided [RCV003848060] Chr22:50525812 [GRCh38]
Chr22:50964241 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.699T>G (p.Pro233=) single nucleotide variant not provided [RCV003734082] Chr22:50523713 [GRCh38]
Chr22:50962142 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.267G>A (p.Lys89=) single nucleotide variant not provided [RCV003551761] Chr22:50524145 [GRCh38]
Chr22:50962574 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.449dup (p.Leu151fs) duplication not provided [RCV003565320] Chr22:50523962..50523963 [GRCh38]
Chr22:50962391..50962392 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.289G>T (p.Ala97Ser) single nucleotide variant not specified [RCV003988578] Chr22:50524123 [GRCh38]
Chr22:50962552 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1 copy number loss not provided [RCV003885499] Chr22:49479980..51304566 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.593T>C (p.Val198Ala) single nucleotide variant SCO2-related disorder [RCV003978979] Chr22:50523819 [GRCh38]
Chr22:50962248 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.*6C>T single nucleotide variant TYMP-related disorder [RCV003896969] Chr22:50525764 [GRCh38]
Chr22:50964193 [GRCh37]
Chr22:22q13.33		 likely benign
GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1 copy number loss not provided [RCV003885498] Chr22:49103529..51220722 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
NM_005138.3(SCO2):c.407T>C (p.Ile136Thr) single nucleotide variant not provided [RCV003886095] Chr22:50524005 [GRCh38]
Chr22:50962434 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.26C>G (p.Thr9Arg) single nucleotide variant Inborn genetic diseases [RCV004455004] Chr22:50524386 [GRCh38]
Chr22:50962815 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.218G>C (p.Gly73Ala) single nucleotide variant Inborn genetic diseases [RCV004455003] Chr22:50524194 [GRCh38]
Chr22:50962623 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1021G>C (p.Gly341Arg) single nucleotide variant Inborn genetic diseases [RCV004484091] Chr22:50526384 [GRCh38]
Chr22:50964813 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1189C>A (p.Leu397Met) single nucleotide variant Inborn genetic diseases [RCV004484092] Chr22:50526112 [GRCh38]
Chr22:50964541 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1408C>T (p.Pro470Ser) single nucleotide variant Inborn genetic diseases [RCV004484094] Chr22:50525811 [GRCh38]
Chr22:50964240 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.226C>A (p.Leu76Met) single nucleotide variant Inborn genetic diseases [RCV004658837] Chr22:50524186 [GRCh38]
Chr22:50962615 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.307G>A (p.Asp103Asn) single nucleotide variant Inborn genetic diseases [RCV004658835] Chr22:50524105 [GRCh38]
Chr22:50962534 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.661A>G (p.Ile221Val) single nucleotide variant not specified [RCV004690615] Chr22:50523751 [GRCh38]
Chr22:50962180 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.563del (p.Leu188fs) deletion Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV004573560] Chr22:50523849 [GRCh38]
Chr22:50962278 [GRCh37]
Chr22:22q13.33		 likely pathogenic
NM_005138.3(SCO2):c.120_135del (p.Gly42fs) deletion Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV004573558] Chr22:50524277..50524292 [GRCh38]
Chr22:50962706..50962721 [GRCh37]
Chr22:22q13.33		 likely pathogenic
NM_005138.3(SCO2):c.135_136del (p.Glu45fs) microsatellite Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV004573559]|not provided [RCV005101911] Chr22:50524276..50524277 [GRCh38]
Chr22:50962705..50962706 [GRCh37]
Chr22:22q13.33		 pathogenic|likely pathogenic
NM_005138.3(SCO2):c.586A>G (p.Lys196Glu) single nucleotide variant Inborn genetic diseases [RCV004658836] Chr22:50523826 [GRCh38]
Chr22:50962255 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1283_1284delinsAA (p.Gly428Glu) indel not provided [RCV004723859] Chr22:50526017..50526018 [GRCh38]
Chr22:50964446..50964447 [GRCh37]
Chr22:22q13.33		 likely pathogenic
NM_001953.5(TYMP):c.1145T>C (p.Leu382Pro) single nucleotide variant not provided [RCV004701993] Chr22:50526260 [GRCh38]
Chr22:50964689 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.508G>T (p.Glu170Ter) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV005034855] Chr22:50523904 [GRCh38]
Chr22:50962333 [GRCh37]
Chr22:22q13.33		 likely pathogenic
NM_005138.3(SCO2):c.210_229del (p.Leu71fs) deletion Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV005034856] Chr22:50524183..50524202 [GRCh38]
Chr22:50962612..50962631 [GRCh37]
Chr22:22q13.33		 likely pathogenic
NM_005138.3(SCO2):c.738_750dup (p.Ser251delinsGlyTer) duplication Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV005034854] Chr22:50523661..50523662 [GRCh38]
Chr22:50962090..50962091 [GRCh37]
Chr22:22q13.33		 likely pathogenic
NM_001953.5(TYMP):c.1353G>C (p.Gln451His) single nucleotide variant Inborn genetic diseases [RCV004969697] Chr22:50525866 [GRCh38]
Chr22:50964295 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1348C>G (p.Pro450Ala) single nucleotide variant Inborn genetic diseases [RCV004969695] Chr22:50525871 [GRCh38]
Chr22:50964300 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1447T>C (p.Ter483Gln) single nucleotide variant Mitochondrial DNA depletion syndrome 1 [RCV005034857] Chr22:50525772 [GRCh38]
Chr22:50964201 [GRCh37]
Chr22:22q13.33		 likely pathogenic
NM_001953.5(TYMP):c.1438C>T (p.Pro480Ser) single nucleotide variant Inborn genetic diseases [RCV004969699] Chr22:50525781 [GRCh38]
Chr22:50964210 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1069G>A (p.Ala357Thr) single nucleotide variant Inborn genetic diseases [RCV004969700] Chr22:50526336 [GRCh38]
Chr22:50964765 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1234G>A (p.Gly412Arg) single nucleotide variant not provided [RCV004820671] Chr22:50526067 [GRCh38]
Chr22:50964496 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:50893449-51197838)x3 copy number gain not provided [RCV004819666] Chr22:50893449..51197838 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:50489358-51121377)x3 copy number gain not provided [RCV004819665] Chr22:50489358..51121377 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.91C>T (p.Leu31=) single nucleotide variant not provided [RCV005107294] Chr22:50524321 [GRCh38]
Chr22:50962750 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1300+10G>T single nucleotide variant not provided [RCV005174230] Chr22:50525991 [GRCh38]
Chr22:50964420 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.972C>A (p.Ala324=) single nucleotide variant not provided [RCV005129564] Chr22:50526433 [GRCh38]
Chr22:50964862 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1293G>A (p.Leu431=) single nucleotide variant not provided [RCV005158255] Chr22:50526008 [GRCh38]
Chr22:50964437 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1159+9C>G single nucleotide variant not provided [RCV005159249] Chr22:50526237 [GRCh38]
Chr22:50964666 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.261G>C (p.Gln87His) single nucleotide variant not provided [RCV005196453] Chr22:50524151 [GRCh38]
Chr22:50962580 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.796T>G (p.Ser266Ala) single nucleotide variant not provided [RCV005147666] Chr22:50523616 [GRCh38]
Chr22:50962045 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.667G>A (p.Asp223Asn) single nucleotide variant not specified [RCV005088484] Chr22:50523745 [GRCh38]
Chr22:50962174 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1404C>A (p.Ala468=) single nucleotide variant not provided [RCV005116547] Chr22:50525815 [GRCh38]
Chr22:50964244 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.741T>C (p.Ala247=) single nucleotide variant not provided [RCV005170715] Chr22:50523671 [GRCh38]
Chr22:50962100 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1080G>A (p.Leu360=) single nucleotide variant not provided [RCV005138396] Chr22:50526325 [GRCh38]
Chr22:50964754 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1318G>A (p.Val440Met) single nucleotide variant not provided [RCV005190599] Chr22:50525901 [GRCh38]
Chr22:50964330 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1160-7C>G single nucleotide variant not provided [RCV005190656] Chr22:50526148 [GRCh38]
Chr22:50964577 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1002G>A (p.Leu334=) single nucleotide variant not provided [RCV005166831] Chr22:50526403 [GRCh38]
Chr22:50964832 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1410C>A (p.Pro470=) single nucleotide variant not provided [RCV005105476] Chr22:50525809 [GRCh38]
Chr22:50964238 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.627C>T (p.Tyr209=) single nucleotide variant not provided [RCV005172870] Chr22:50523785 [GRCh38]
Chr22:50962214 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1160-5del deletion not provided [RCV005124089] Chr22:50526146 [GRCh38]
Chr22:50964575 [GRCh37]
Chr22:22q13.33		 benign
NM_001953.5(TYMP):c.969G>A (p.Gln323=) single nucleotide variant not provided [RCV005174198] Chr22:50526436 [GRCh38]
Chr22:50964865 [GRCh37]
Chr22:22q13.33		 likely benign
NM_001953.5(TYMP):c.1072C>T (p.Arg358Ter) single nucleotide variant not provided [RCV005177983] Chr22:50526333 [GRCh38]
Chr22:50964762 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_005138.3(SCO2):c.387C>T (p.Gly129=) single nucleotide variant not provided [RCV005075814] Chr22:50524025 [GRCh38]
Chr22:50962454 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.636C>T (p.Gly212=) single nucleotide variant not provided [RCV005201852] Chr22:50523776 [GRCh38]
Chr22:50962205 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.323A>G (p.Asp108Gly) single nucleotide variant not specified [RCV005238621] Chr22:50524089 [GRCh38]
Chr22:50962518 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.600G>A (p.Gln200=) single nucleotide variant not provided [RCV005162847] Chr22:50523812 [GRCh38]
Chr22:50962241 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.334C>G (p.Arg112Gly) single nucleotide variant not specified [RCV005238541] Chr22:50524078 [GRCh38]
Chr22:50962507 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.235A>T (p.Arg79Trp) single nucleotide variant not provided [RCV005233353] Chr22:50524177 [GRCh38]
Chr22:50962606 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.6G>A (p.Leu2=) single nucleotide variant not provided [RCV005207458] Chr22:50524406 [GRCh38]
Chr22:50962835 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.309C>T (p.Asp103=) single nucleotide variant not provided [RCV005135290] Chr22:50524103 [GRCh38]
Chr22:50962532 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.61G>A (p.Val21Ile) single nucleotide variant not provided [RCV005151529] Chr22:50524351 [GRCh38]
Chr22:50962780 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.414A>G (p.Pro138=) single nucleotide variant not provided [RCV005135874] Chr22:50523998 [GRCh38]
Chr22:50962427 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.624C>T (p.Tyr208=) single nucleotide variant not provided [RCV005159068] Chr22:50523788 [GRCh38]
Chr22:50962217 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.297G>A (p.Val99=) single nucleotide variant not provided [RCV005068827] Chr22:50524115 [GRCh38]
Chr22:50962544 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.754G>A (p.Asp252Asn) single nucleotide variant not provided [RCV005149751] Chr22:50523658 [GRCh38]
Chr22:50962087 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.359G>A (p.Arg120Gln) single nucleotide variant not provided [RCV005200201] Chr22:50524053 [GRCh38]
Chr22:50962482 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.372G>A (p.Val124=) single nucleotide variant not provided [RCV005153565] Chr22:50524040 [GRCh38]
Chr22:50962469 [GRCh37]
Chr22:22q13.33		 likely benign
NM_005138.3(SCO2):c.766C>G (p.Arg256Gly) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV005393772] Chr22:50523646 [GRCh38]
Chr22:50962075 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.766C>T (p.Arg256Trp) single nucleotide variant Inborn genetic diseases [RCV005275236] Chr22:50523646 [GRCh38]
Chr22:50962075 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.433G>A (p.Val145Met) single nucleotide variant Inborn genetic diseases [RCV005275238] Chr22:50523979 [GRCh38]
Chr22:50962408 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.31T>C (p.Trp11Arg) single nucleotide variant Inborn genetic diseases [RCV005275239] Chr22:50524381 [GRCh38]
Chr22:50962810 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.752_753del (p.Ile250_Ser251insTer) deletion not provided [RCV005254424] Chr22:50523659..50523660 [GRCh38]
Chr22:50962088..50962089 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:50894560-51197838)x3 copy number gain not provided [RCV005430875] Chr22:50894560..51197838 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.601G>C (p.Ala201Pro) single nucleotide variant not specified [RCV005418884] Chr22:50523811 [GRCh38]
Chr22:50962240 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_001953.5(TYMP):c.1330G>A (p.Gly444Ser) single nucleotide variant not provided [RCV005414220] Chr22:50525889 [GRCh38]
Chr22:50964318 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_005138.3(SCO2):c.361G>C (p.Gly121Arg) single nucleotide variant Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 [RCV005410309] Chr22:50524051 [GRCh38]
Chr22:50962480 [GRCh37]
Chr22:22q13.33		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1830
Count of miRNA genes:436
Interacting mature miRNAs:483
Transcripts:ENST00000252785, ENST00000395693, ENST00000423348, ENST00000439934, ENST00000535425, ENST00000543927
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407084354GWAS733330_H5-methyluridine (ribothymidine) measurement QTL GWAS733330 (human)2e-2405-methyluridine (ribothymidine) measurement225052572450525725Human
628701562GWAS2609791_Hlevel of thymidine phosphorylase in blood QTL GWAS2609791 (human)2e-169level of thymidine phosphorylase in blood225052572450525725Human
598078368GWAS1797667_Herythrocyte attribute QTL GWAS1797667 (human)2e-18erythrocyte attribute225052511150525112Human
597113233GWAS1209307_HRed cell distribution width QTL GWAS1209307 (human)3e-33erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)225052492850524929Human
597085841GWAS1181915_Hmean corpuscular hemoglobin QTL GWAS1181915 (human)3e-11erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin (CMO:0000290)225052511150525112Human
616988609GWAS2006108_Herythrocyte volume QTL GWAS2006108 (human)9e-11erythrocyte volume225052435350524354Human
628868220GWAS2776449_Hprotein measurement QTL GWAS2776449 (human)1e-64protein amount (VT:0010120)225052547650525477Human
597325715GWAS1421789_Huridine measurement QTL GWAS1421789 (human)2e-22uridine measurement225052572450525725Human
407093065GWAS742041_H5,6-dihydrothymine measurement QTL GWAS742041 (human)3e-125,6-dihydrothymine measurement225052511150525112Human
628437631GWAS2345860_Herythrocyte volume QTL GWAS2345860 (human)9e-11erythrocyte volume225052435350524354Human
406993740GWAS642716_Hmean corpuscular volume QTL GWAS642716 (human)2e-366mean corpuscular volume225052553650525537Human
597320340GWAS1416414_Huridine measurement QTL GWAS1416414 (human)1e-34uridine measurement225052572450525725Human
617086664GWAS2104163_Herythrocyte volume QTL GWAS2104163 (human)0.0000001erythrocyte volume225052580750525808Human
407188053GWAS837029_Hmean corpuscular hemoglobin QTL GWAS837029 (human)5e-56mean corpuscular hemoglobin225052492850524929Human
406928720GWAS577696_Huridine measurement QTL GWAS577696 (human)1e-19uridine measurement225052572450525725Human
407404123GWAS1053099_Hmean reticulocyte volume QTL GWAS1053099 (human)6e-09mean reticulocyte volume225052643350526434Human
598063283GWAS1782582_Herythrocyte volume QTL GWAS1782582 (human)0.0000001erythrocyte volume225052580750525808Human
596953485GWAS1073004_HRed cell distribution width QTL GWAS1073004 (human)3e-40Red cell distribution width225052377950523780Human
628569450GWAS2477679_Hmitochondrial DNA measurement QTL GWAS2477679 (human)1e-10tissue deoxyribonucleic acid amount (VT:0011005)225052377950523780Human
628673893GWAS2582122_H5-methyluridine (ribothymidine) measurement QTL GWAS2582122 (human)3e-2045-methyluridine (ribothymidine) measurement225052572450525725Human
616985319GWAS2002818_HRed cell distribution width QTL GWAS2002818 (human)0.0000006Red cell distribution width225052435350524354Human
597048499GWAS1144573_Hmean corpuscular hemoglobin QTL GWAS1144573 (human)2e-09mean corpuscular hemoglobin225052435350524354Human
616554138GWAS1950721_HRed cell distribution width QTL GWAS1950721 (human)3e-39Red cell distribution width225052492850524929Human
616985312GWAS2002811_Hmean corpuscular hemoglobin QTL GWAS2002811 (human)3e-09mean corpuscular hemoglobin225052435350524354Human
407086692GWAS735668_Huridine measurement QTL GWAS735668 (human)1e-16uridine measurement225052572450525725Human
628902481GWAS2810710_Hlevel of thymidine phosphorylase in blood serum QTL GWAS2810710 (human)1e-36level of thymidine phosphorylase in blood serum225052572450525725Human
597050040GWAS1146114_Hmean corpuscular volume QTL GWAS1146114 (human)9e-11mean corpuscular volume225052435350524354Human
597269175GWAS1365249_H5-methyluridine (ribothymidine) measurement QTL GWAS1365249 (human)1e-275-methyluridine (ribothymidine) measurement225052572450525725Human
406965108GWAS614084_Hlevel of thymidine phosphorylase in blood serum QTL GWAS614084 (human)1e-36level of thymidine phosphorylase in blood serum225052572450525725Human
598016668GWAS1735967_Herythrocyte volume QTL GWAS1735967 (human)3e-09erythrocyte volume225052643350526434Human
407098114GWAS747090_Huridine measurement QTL GWAS747090 (human)2e-22uridine measurement225052572450525725Human
407092225GWAS741201_Hmean corpuscular volume QTL GWAS741201 (human)3e-09mean corpuscular volume225052643350526434Human
598040550GWAS1759849_Herythrocyte volume QTL GWAS1759849 (human)2e-11erythrocyte volume225052580750525808Human
596958419GWAS1077938_HRed cell distribution width QTL GWAS1077938 (human)2e-40Red cell distribution width225052492850524929Human
628674111GWAS2582340_Huridine measurement QTL GWAS2582340 (human)2e-22uridine measurement225052572450525725Human
407098890GWAS747866_H5-methyluridine (ribothymidine) measurement QTL GWAS747866 (human)3e-2045-methyluridine (ribothymidine) measurement225052572450525725Human
597402833GWAS1498907_Hmean reticulocyte volume QTL GWAS1498907 (human)6e-09mean reticulocyte volume225052643350526434Human
628607802GWAS2516031_Hmean corpuscular hemoglobin QTL GWAS2516031 (human)5e-56erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin (CMO:0000290)225052492850524929Human
628400186GWAS2308415_Herythrocyte volume QTL GWAS2308415 (human)2e-366erythrocyte volume225052553650525537Human
628765748GWAS2673977_Hblood protein amount QTL GWAS2673977 (human)5e-17blood protein amount225052572450525725Human
406960145GWAS609121_Hobsolete_red blood cell distribution width QTL GWAS609121 (human)0.0000006obsolete_red blood cell distribution width225052435350524354Human
407123989GWAS772965_Hmean corpuscular hemoglobin QTL GWAS772965 (human)3e-09mean corpuscular hemoglobin225052435350524354Human
407163669GWAS812645_Hhemoglobin measurement QTL GWAS812645 (human)2e-11hemoglobin measurement225052572450525725Human
597187274GWAS1283348_H5-methyluridine (ribothymidine) measurement QTL GWAS1283348 (human)2e-2405-methyluridine (ribothymidine) measurement225052572450525725Human
617022098GWAS2039597_Herythrocyte volume QTL GWAS2039597 (human)2e-11erythrocyte volume225052580750525808Human
597182912GWAS1278986_Hprotein measurement QTL GWAS1278986 (human)1e-64protein measurement225052547650525477Human
628706851GWAS2615080_H5-methyluridine (ribothymidine) measurement QTL GWAS2615080 (human)5e-1285-methyluridine (ribothymidine) measurement225052572450525725Human
597328321GWAS1424395_H5-methyluridine (ribothymidine) measurement QTL GWAS1424395 (human)3e-2045-methyluridine (ribothymidine) measurement225052572450525725Human
598037502GWAS1756801_Hcerebrospinal fluid composition attribute, 5-methyluridine (ribothymidine) measurement QTL GWAS1756801 (human)2e-72cerebrospinal fluid composition attribute, 5-methyluridine (ribothymidine) measurement225052572450525725Human
629066789GWAS2960964_Herythrocyte volume QTL GWAS2960964 (human)0.0000001erythrocyte volume225052580750525808Human
616976282GWAS1993781_Hmean reticulocyte volume QTL GWAS1993781 (human)6e-09mean reticulocyte volume225052643350526434Human
628609579GWAS2517808_Hcerebrospinal fluid composition attribute, 5-methyluridine (ribothymidine) measurement QTL GWAS2517808 (human)2e-72cerebrospinal fluid composition attribute, 5-methyluridine (ribothymidine) measurement225052572450525725Human
597136586GWAS1232660_H5-methyluridine (ribothymidine) measurement QTL GWAS1232660 (human)8e-1035-methyluridine (ribothymidine) measurement225052572450525725Human
616372440GWAS1852682_Hobsolete_blood protein measurement QTL GWAS1852682 (human)5e-17obsolete_blood protein measurement225052572450525725Human
598007234GWAS1726533_Herythrocyte volume QTL GWAS1726533 (human)9e-11erythrocyte volume225052435350524354Human
406957610GWAS606586_Hprotein measurement QTL GWAS606586 (human)1e-64protein measurement225052547650525477Human
628439582GWAS2347811_HRed cell distribution width QTL GWAS2347811 (human)0.0000006erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)225052435350524354Human
407098158GWAS747134_H2'-deoxyuridine measurement QTL GWAS747134 (human)5e-572'-deoxyuridine measurement225052572450525725Human
597322485GWAS1418559_Hlevel of thymidine phosphorylase in blood serum QTL GWAS1418559 (human)1e-36level of thymidine phosphorylase in blood serum225052572450525725Human
407192375GWAS841351_Herythrocyte measurement QTL GWAS841351 (human)2e-18erythrocyte measurement225052511150525112Human
616376014GWAS1856256_Hobsolete_serum metabolite measurement QTL GWAS1856256 (human)4e-82obsolete_serum metabolite measurement225052572450525725Human
407241778GWAS890754_Hblood protein measurement QTL GWAS890754 (human)5e-17blood protein measurement225052572450525725Human
616494790GWAS1891373_Hserum metabolite level QTL GWAS1891373 (human)4e-82serum metabolite level225052572450525725Human
629044742GWAS2938917_Hmean corpuscular hemoglobin QTL GWAS2938917 (human)1e-40erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin (CMO:0000290)225052643350526434Human
597818843GWAS1686234_H5-methyluridine (ribothymidine) measurement QTL GWAS1686234 (human)2e-725-methyluridine (ribothymidine) measurement225052572450525725Human
597084651GWAS1180725_Hserum metabolite measurement QTL GWAS1180725 (human)4e-82serum metabolite measurement225052572450525725Human
597187045GWAS1283119_Huridine measurement QTL GWAS1283119 (human)1e-16uridine measurement225052572450525725Human
407409608GWAS1058584_Hmean corpuscular volume QTL GWAS1058584 (human)0.0000001mean corpuscular volume225052580750525808Human
626442196GWAS2256129_HRed cell distribution width QTL GWAS2256129 (human)0.0000006Red cell distribution width225052435350524354Human
596954899GWAS1074418_Hmean corpuscular hemoglobin QTL GWAS1074418 (human)2e-09mean corpuscular hemoglobin225052435350524354Human
597400080GWAS1496154_Hmean corpuscular volume QTL GWAS1496154 (human)3e-09mean corpuscular volume225052643350526434Human
407032526GWAS681502_Hmean corpuscular volume QTL GWAS681502 (human)4e-12mean corpuscular volume225052511150525112Human
597122843GWAS1218917_Hblood protein measurement QTL GWAS1218917 (human)5e-17blood protein measurement225052572450525725Human
616988234GWAS2005733_Herythrocyte volume QTL GWAS2005733 (human)2e-09mean corpuscular hemoglobin225052435350524354Human
626442200GWAS2256133_Herythrocyte volume QTL GWAS2256133 (human)9e-11erythrocyte volume225052435350524354Human
407079372GWAS728348_Hobsolete_red blood cell distribution width QTL GWAS728348 (human)3e-33obsolete_red blood cell distribution width225052492850524929Human
596977690GWAS1097209_HRed cell distribution width QTL GWAS1097209 (human)3e-33Red cell distribution width225052492850524929Human
407255254GWAS904230_H5-methyluridine (ribothymidine) measurement QTL GWAS904230 (human)1e-275-methyluridine (ribothymidine) measurement225052572450525725Human
628829931GWAS2738160_HRed cell distribution width QTL GWAS2738160 (human)3e-39erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)225052492850524929Human
628763626GWAS2671855_H2'-deoxyuridine measurement QTL GWAS2671855 (human)1e-682'-deoxyuridine measurement225052572450525725Human
597186573GWAS1282647_H5,6-dihydrothymine measurement QTL GWAS1282647 (human)3e-125,6-dihydrothymine measurement225052511150525112Human
597330191GWAS1426265_H2'-deoxyuridine measurement QTL GWAS1426265 (human)5e-572'-deoxyuridine measurement225052572450525725Human
407085269GWAS734245_H2'-deoxyuridine measurement QTL GWAS734245 (human)1e-682'-deoxyuridine measurement225052572450525725Human
597141517GWAS1237591_Huridine measurement QTL GWAS1237591 (human)1e-19uridine measurement225052572450525725Human
628433646GWAS2341875_Hmean corpuscular hemoglobin QTL GWAS2341875 (human)3e-09erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin (CMO:0000290)225052435350524354Human
628660708GWAS2568937_Hhemoglobin measurement QTL GWAS2568937 (human)2e-11blood hemoglobin amount (VT:0001588)hemoglobin measurement (CMO:0000508)225052572450525725Human
629043679GWAS2937854_Herythrocyte volume QTL GWAS2937854 (human)2e-11erythrocyte volume225052580750525808Human
597293115GWAS1389189_Hmean corpuscular volume QTL GWAS1389189 (human)2e-11mean corpuscular volume225052580750525808Human
628433367GWAS2341596_Hmean corpuscular hemoglobin QTL GWAS2341596 (human)2e-09erythrocyte hemoglobin amount (VT:0010953)mean corpuscular hemoglobin (CMO:0000290)225052435350524354Human
596987965GWAS1107484_Hmean corpuscular volume QTL GWAS1107484 (human)0.0000001mean corpuscular volume225052580750525808Human
596956733GWAS1076252_HRed cell distribution width QTL GWAS1076252 (human)0.0000006Red cell distribution width225052435350524354Human
616994927GWAS2012426_Hmean corpuscular hemoglobin QTL GWAS2012426 (human)1e-40mean corpuscular hemoglobin225052643350526434Human
597343280GWAS1439354_Hhemoglobin measurement QTL GWAS1439354 (human)2e-11hemoglobin measurement225052572450525725Human
597052728GWAS1148802_HRed cell distribution width QTL GWAS1148802 (human)2e-40erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)225052492850524929Human
628859083GWAS2767312_Huridine measurement QTL GWAS2767312 (human)1e-34uridine measurement225052572450525725Human
628896968GWAS2805197_H5-methyluridine (ribothymidine) measurement QTL GWAS2805197 (human)1e-275-methyluridine (ribothymidine) measurement225052572450525725Human
629025227GWAS2919402_Herythrocyte volume QTL GWAS2919402 (human)3e-09erythrocyte volume225052643350526434Human
406924025GWAS573001_H5-methyluridine (ribothymidine) measurement QTL GWAS573001 (human)8e-1035-methyluridine (ribothymidine) measurement225052572450525725Human
628866243GWAS2774472_H5-methyluridine (ribothymidine) measurement QTL GWAS2774472 (human)8e-1035-methyluridine (ribothymidine) measurement225052572450525725Human
597306915GWAS1402989_H5-methyluridine (ribothymidine) measurement QTL GWAS1402989 (human)5e-1285-methyluridine (ribothymidine) measurement225052572450525725Human
617195632GWAS2176072_Hlevel of thymidine phosphorylase in blood QTL GWAS2176072 (human)2e-169level of thymidine phosphorylase in blood225052572450525725Human
616973181GWAS1990680_Herythrocyte volume QTL GWAS1990680 (human)3e-09erythrocyte volume225052643350526434Human
628677827GWAS2586056_H2'-deoxyuridine measurement QTL GWAS2586056 (human)5e-572'-deoxyuridine measurement225052572450525725Human
407305720GWAS954696_Hserum metabolite measurement QTL GWAS954696 (human)4e-82serum metabolite measurement225052572450525725Human
626457833GWAS2271766_Herythrocyte volume QTL GWAS2271766 (human)4e-59erythrocyte volume225052435350524354Human
628926147GWAS2834376_Herythrocyte volume QTL GWAS2834376 (human)4e-59erythrocyte volume225052435350524354Human
597982817GWAS1702116_Herythrocyte volume QTL GWAS1702116 (human)2e-366erythrocyte volume225052553650525537Human
597275743GWAS1371817_Hmean corpuscular volume QTL GWAS1371817 (human)0.0000001mean corpuscular volume225052580750525808Human
597079896GWAS1175970_Hmean corpuscular volume QTL GWAS1175970 (human)4e-12mean corpuscular volume225052511150525112Human
597047111GWAS1143185_HRed cell distribution width QTL GWAS1143185 (human)0.0000006Red cell distribution width225052435350524354Human
598016628GWAS1735927_Herythrocyte volume QTL GWAS1735927 (human)4e-12erythrocyte volume225052511150525112Human
616509547GWAS1906130_Hlevel of thymidine phosphorylase in blood serum QTL GWAS1906130 (human)2e-169level of thymidine phosphorylase in blood serum225052572450525725Human
628866990GWAS2775219_H5-methyluridine (ribothymidine) measurement QTL GWAS2775219 (human)1e-3685-methyluridine (ribothymidine) measurement225052572450525725Human
597346637GWAS1442711_Herythrocyte measurement QTL GWAS1442711 (human)2e-18erythrocyte measurement225052511150525112Human
407349405GWAS998381_Hmean corpuscular hemoglobin QTL GWAS998381 (human)1e-40mean corpuscular hemoglobin225052643350526434Human
406957210GWAS606186_Hmean corpuscular volume QTL GWAS606186 (human)2e-09mean corpuscular hemoglobin225052435350524354Human
407404179GWAS1053155_Hmitochondrial DNA measurement QTL GWAS1053155 (human)1e-10mitochondrial DNA measurement225052377950523780Human
626442125GWAS2256058_Hmean corpuscular hemoglobin QTL GWAS2256058 (human)3e-09mean corpuscular hemoglobin225052435350524354Human
626442122GWAS2256055_Hmean corpuscular hemoglobin QTL GWAS2256055 (human)2e-09erythrocyte volume225052435350524354Human
406958748GWAS607724_Hmean corpuscular volume QTL GWAS607724 (human)9e-11mean corpuscular volume225052435350524354Human
628758949GWAS2667178_H5-methyluridine (ribothymidine) measurement QTL GWAS2667178 (human)2e-2405-methyluridine (ribothymidine) measurement225052572450525725Human
597462653GWAS1558727_Hmean corpuscular hemoglobin QTL GWAS1558727 (human)1e-40mean corpuscular hemoglobin225052643350526434Human
406901415GWAS550391_H5-methyluridine (ribothymidine) measurement QTL GWAS550391 (human)1e-3685-methyluridine (ribothymidine) measurement225052572450525725Human
407094955GWAS743931_Huridine measurement QTL GWAS743931 (human)1e-34uridine measurement225052572450525725Human
597383283GWAS1479357_HRed cell distribution width QTL GWAS1479357 (human)3e-40erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)225052377950523780Human
597436021GWAS1532095_Hcerebrospinal fluid biomarker measurement, 5-methyluridine (ribothymidine) measurement QTL GWAS1532095 (human)2e-72cerebrospinal fluid biomarker measurement, 5-methyluridine (ribothymidine) measurement225052572450525725Human
597261426GWAS1357500_Hmean corpuscular hemoglobin QTL GWAS1357500 (human)5e-56mean corpuscular hemoglobin225052492850524929Human
628867479GWAS2775708_Huridine measurement QTL GWAS2775708 (human)1e-19uridine measurement225052572450525725Human
616482640GWAS1879223_Hblood protein amount QTL GWAS1879223 (human)5e-17blood protein amount225052572450525725Human
629024913GWAS2919088_Hmean reticulocyte volume QTL GWAS2919088 (human)6e-09reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)225052643350526434Human
597189225GWAS1285299_H2'-deoxyuridine measurement QTL GWAS1285299 (human)1e-682'-deoxyuridine measurement225052572450525725Human
597428589GWAS1524663_Hmitochondrial DNA measurement QTL GWAS1524663 (human)1e-10mitochondrial DNA measurement225052377950523780Human
628762760GWAS2670989_Huridine measurement QTL GWAS2670989 (human)1e-16uridine measurement225052572450525725Human
628761225GWAS2669454_H5,6-dihydrothymine measurement QTL GWAS2669454 (human)3e-12nucleotide metabolism trait (VT:0003806)225052511150525112Human
406963893GWAS612869_Hgranulocyte percentage of myeloid white cells QTL GWAS612869 (human)7e-09granulocyte quantity (VT:0000334)225052572450525725Human
407382205GWAS1031181_Hobsolete_red blood cell distribution width QTL GWAS1031181 (human)3e-40obsolete_red blood cell distribution width225052377950523780Human
407383230GWAS1032206_Hobsolete_red blood cell distribution width QTL GWAS1032206 (human)2e-40obsolete_red blood cell distribution width225052492850524929Human
596988259GWAS1107778_Hmean corpuscular volume QTL GWAS1107778 (human)2e-11mean corpuscular volume225052580750525808Human
628684416GWAS2592645_Herythrocyte attribute QTL GWAS2592645 (human)2e-18erythrocyte attribute225052511150525112Human
597141102GWAS1237176_H5-methyluridine (ribothymidine) measurement QTL GWAS1237176 (human)1e-3685-methyluridine (ribothymidine) measurement225052572450525725Human
407005113GWAS654089_Hmean corpuscular hemoglobin QTL GWAS654089 (human)3e-11mean corpuscular hemoglobin225052511150525112Human
407061437GWAS710413_H5-methyluridine (ribothymidine) measurement QTL GWAS710413 (human)5e-1285-methyluridine (ribothymidine) measurement225052572450525725Human
597050728GWAS1146802_Hmean corpuscular hemoglobin QTL GWAS1146802 (human)3e-09mean corpuscular hemoglobin225052435350524354Human

Markers in Region
D22S685  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,595,593 - 34,595,779UniSTSGRCh37
Build 362232,925,593 - 32,925,779RGDNCBI36
Celera2218,398,304 - 18,398,490RGD
Cytogenetic Map22q12UniSTS
HuRef2217,552,003 - 17,552,189UniSTS
Marshfield Genetic Map2232.39UniSTS
Marshfield Genetic Map2232.39RGD
deCODE Assembly Map2238.79UniSTS
Stanford-G3 RH Map22848.0UniSTS
Whitehead-RH Map22107.5UniSTS
Whitehead-YAC Contig Map22 UniSTS
NCBI RH Map22143.7UniSTS
RH92958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372250,962,980 - 50,963,117UniSTSGRCh37
Build 362249,309,846 - 49,309,983RGDNCBI36
Celera2234,839,007 - 34,839,144RGD
Cytogenetic Map22q13.33UniSTS
HuRef2233,853,998 - 33,854,135UniSTS
GeneMap99-GB4 RH Map22174.97UniSTS
WI-11276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372250,961,766 - 50,961,896UniSTSGRCh37
Build 362249,308,632 - 49,308,762RGDNCBI36
Celera2234,837,793 - 34,837,923RGD
Cytogenetic Map22q13.33UniSTS
HuRef2233,852,784 - 33,852,914UniSTS
GeneMap99-GB4 RH Map22174.97UniSTS
Whitehead-RH Map22197.2UniSTS
UniSTS:50701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372250,965,140 - 50,965,443UniSTSGRCh37
Build 362249,312,006 - 49,312,309RGDNCBI36
Celera2234,841,167 - 34,841,470RGD
HuRef2233,856,158 - 33,856,461UniSTS
SCO2__5555  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372250,961,970 - 50,962,855UniSTSGRCh37
Build 362249,308,836 - 49,309,721RGDNCBI36
Celera2234,837,997 - 34,838,882RGD
HuRef2233,852,988 - 33,853,873UniSTS


Expression

RNA-SEQ Expression

endoderm
hemolymphoid system
mesenchyme
mesoderm
respiratory system
1 147 147 147 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_021419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001169109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001169110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001169111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF177385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL021683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC102024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC102025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG392981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM787182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ878572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN409692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U62317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000252785   ⟹   ENSP00000252785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,523,596 - 50,525,604 (-)Ensembl
Ensembl Acc Id: ENST00000395693   ⟹   ENSP00000379046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,523,568 - 50,525,598 (-)Ensembl
Ensembl Acc Id: ENST00000535425   ⟹   ENSP00000444242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,523,568 - 50,526,145 (-)Ensembl
Ensembl Acc Id: ENST00000543927   ⟹   ENSP00000444433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,523,573 - 50,526,461 (-)Ensembl
Ensembl Acc Id: ENST00000638598   ⟹   ENSP00000491753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,523,906 - 50,526,145 (-)Ensembl
Ensembl Acc Id: ENST00000862162   ⟹   ENSP00000532221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,523,568 - 50,525,621 (-)Ensembl
Ensembl Acc Id: ENST00000862163   ⟹   ENSP00000532222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,523,568 - 50,525,595 (-)Ensembl
Ensembl Acc Id: ENST00000862164   ⟹   ENSP00000532223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,523,571 - 50,525,570 (-)Ensembl
Ensembl Acc Id: ENST00000862165   ⟹   ENSP00000532224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,523,571 - 50,525,546 (-)Ensembl
Ensembl Acc Id: ENST00000862166   ⟹   ENSP00000532225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,523,570 - 50,525,496 (-)Ensembl
Ensembl Acc Id: ENST00000862167   ⟹   ENSP00000532226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,523,570 - 50,525,492 (-)Ensembl
Ensembl Acc Id: ENST00000862168   ⟹   ENSP00000532227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,523,570 - 50,525,237 (-)Ensembl
Ensembl Acc Id: ENST00000862169   ⟹   ENSP00000532228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,523,568 - 50,524,967 (-)Ensembl
Ensembl Acc Id: ENST00000928020   ⟹   ENSP00000598079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2250,523,564 - 50,525,602 (-)Ensembl
RefSeq Acc Id: NM_001169109   ⟹   NP_001162580
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,523,568 - 50,526,442 (-)NCBI
GRCh372250,961,997 - 50,964,868 (-)ENTREZGENE
HuRef2233,853,015 - 33,855,886 (-)ENTREZGENE
CHM1_12250,920,734 - 50,923,605 (-)NCBI
T2T-CHM13v2.02251,034,133 - 51,037,007 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001169110   ⟹   NP_001162581
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,523,568 - 50,526,145 (-)NCBI
GRCh372250,961,997 - 50,964,868 (-)ENTREZGENE
HuRef2233,853,015 - 33,855,886 (-)ENTREZGENE
CHM1_12250,920,734 - 50,923,311 (-)NCBI
T2T-CHM13v2.02251,034,133 - 51,036,710 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001169111   ⟹   NP_001162582
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,523,568 - 50,525,598 (-)NCBI
GRCh372250,961,997 - 50,964,868 (-)ENTREZGENE
HuRef2233,853,015 - 33,855,886 (-)ENTREZGENE
CHM1_12250,920,734 - 50,922,770 (-)NCBI
T2T-CHM13v2.02251,034,133 - 51,036,163 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005138   ⟹   NP_005129
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,523,568 - 50,525,598 (-)NCBI
GRCh372250,961,997 - 50,964,868 (-)ENTREZGENE
Build 362249,308,863 - 49,310,900 (-)NCBI Archive
HuRef2233,853,015 - 33,855,886 (-)ENTREZGENE
CHM1_12250,920,734 - 50,922,771 (-)NCBI
T2T-CHM13v2.02251,034,133 - 51,036,163 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001162580   ⟸   NM_001169109
- Peptide Label: precursor
- UniProtKB: Q3T1B5 (UniProtKB/Swiss-Prot),   Q9UK87 (UniProtKB/Swiss-Prot),   O43819 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001162581   ⟸   NM_001169110
- Peptide Label: precursor
- UniProtKB: Q3T1B5 (UniProtKB/Swiss-Prot),   Q9UK87 (UniProtKB/Swiss-Prot),   O43819 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_005129   ⟸   NM_005138
- Peptide Label: precursor
- UniProtKB: Q3T1B5 (UniProtKB/Swiss-Prot),   Q9UK87 (UniProtKB/Swiss-Prot),   O43819 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001162582   ⟸   NM_001169111
- Peptide Label: precursor
- UniProtKB: Q3T1B5 (UniProtKB/Swiss-Prot),   Q9UK87 (UniProtKB/Swiss-Prot),   O43819 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000252785   ⟸   ENST00000252785
Ensembl Acc Id: ENSP00000444433   ⟸   ENST00000543927
Ensembl Acc Id: ENSP00000491753   ⟸   ENST00000638598
Ensembl Acc Id: ENSP00000444242   ⟸   ENST00000535425
Ensembl Acc Id: ENSP00000379046   ⟸   ENST00000395693
Ensembl Acc Id: ENSP00000598079   ⟸   ENST00000928020
Ensembl Acc Id: ENSP00000532225   ⟸   ENST00000862166
Ensembl Acc Id: ENSP00000532222   ⟸   ENST00000862163
Ensembl Acc Id: ENSP00000532224   ⟸   ENST00000862165
Ensembl Acc Id: ENSP00000532227   ⟸   ENST00000862168
Ensembl Acc Id: ENSP00000532221   ⟸   ENST00000862162
Ensembl Acc Id: ENSP00000532228   ⟸   ENST00000862169
Ensembl Acc Id: ENSP00000532226   ⟸   ENST00000862167
Ensembl Acc Id: ENSP00000532223   ⟸   ENST00000862164
Protein Domains
Thioredoxin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43819-F1-model_v2 AlphaFold O43819 1-266 view protein structure

Promoters
RGD ID:6800341
Promoter ID:HG_KWN:43394
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:UC010HBC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362249,309,061 - 49,310,172 (-)MPROMDB
RGD ID:6800338
Promoter ID:HG_KWN:43395
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001169109,   NM_001169110,   OTTHUMT00000317090,   UC003BMA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362249,310,791 - 49,312,692 (-)MPROMDB
RGD ID:13604556
Promoter ID:EPDNEW_H28462
Type:initiation region
Name:SCO2_4
Description:SCO2, cytochrome c oxidase assembly protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28463  EPDNEW_H28464  EPDNEW_H28468  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,525,251 - 50,525,311EPDNEW
RGD ID:13604558
Promoter ID:EPDNEW_H28463
Type:initiation region
Name:SCO2_1
Description:SCO2, cytochrome c oxidase assembly protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28462  EPDNEW_H28464  EPDNEW_H28468  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,525,572 - 50,525,632EPDNEW
RGD ID:13604560
Promoter ID:EPDNEW_H28464
Type:initiation region
Name:SCO2_3
Description:SCO2, cytochrome c oxidase assembly protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28462  EPDNEW_H28463  EPDNEW_H28468  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,526,431 - 50,526,491EPDNEW
RGD ID:13604570
Promoter ID:EPDNEW_H28468
Type:initiation region
Name:SCO2_2
Description:SCO2, cytochrome c oxidase assembly protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28462  EPDNEW_H28463  EPDNEW_H28464  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,532,498 - 50,532,558EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10604 AgrOrtholog
COSMIC SCO2 COSMIC
Ensembl Genes ENSG00000284194 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000252785 ENTREZGENE
  ENST00000252785.3 UniProtKB/Swiss-Prot
  ENST00000395693 ENTREZGENE
  ENST00000395693.8 UniProtKB/Swiss-Prot
  ENST00000535425 ENTREZGENE
  ENST00000535425.5 UniProtKB/Swiss-Prot
  ENST00000543927 ENTREZGENE
  ENST00000543927.6 UniProtKB/Swiss-Prot
Gene3D-CATH Glutaredoxin UniProtKB/Swiss-Prot
GTEx ENSG00000284194 GTEx
HGNC ID HGNC:10604 ENTREZGENE
Human Proteome Map SCO2 Human Proteome Map
InterPro SCO1/SenC UniProtKB/Swiss-Prot
  Synth_of_cyt-c-oxidase_Sco1/2 UniProtKB/Swiss-Prot
  Thioredoxin-like_sf UniProtKB/Swiss-Prot
  Thioredoxin_domain UniProtKB/Swiss-Prot
KEGG Report hsa:9997 UniProtKB/Swiss-Prot
NCBI Gene 9997 ENTREZGENE
OMIM 604272 OMIM
PANTHER PROTEIN SCO2 HOMOLOG, MITOCHONDRIAL UniProtKB/Swiss-Prot
  PTHR12151 UniProtKB/Swiss-Prot
Pfam SCO1-SenC UniProtKB/Swiss-Prot
PharmGKB PA35013 PharmGKB
PIRSF SCO1 UniProtKB/Swiss-Prot
PROSITE THIOREDOXIN_2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52833 UniProtKB/Swiss-Prot
UniProt A0A1W2PQK0_HUMAN UniProtKB/TrEMBL
  O43819 ENTREZGENE
  Q3T1B5 ENTREZGENE
  Q9UK87 ENTREZGENE
  SCO2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q3T1B5 UniProtKB/Swiss-Prot
  Q9UK87 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-10-08 SCO2  synthesis of cytochrome C oxidase 2  SCO2  SCO cytochrome c oxidase assembly protein 2  Symbol and/or name change 5135510 APPROVED
2019-01-29 SCO2  SCO cytochrome c oxidase assembly protein 2    SCO2, cytochrome c oxidase assembly protein  Symbol and/or name change 5135510 APPROVED
2016-08-16 SCO2  SCO2, cytochrome c oxidase assembly protein    SCO2 cytochrome c oxidase assembly protein  Symbol and/or name change 5135510 APPROVED
2012-10-23 SCO2  SCO2 cytochrome c oxidase assembly protein    SCO cytochrome oxidase deficient homolog 2 (yeast)  Symbol and/or name change 5135510 APPROVED