MDH2 (malate dehydrogenase 2) - Rat Genome Database

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Gene: MDH2 (malate dehydrogenase 2) Homo sapiens
Analyze
Symbol: MDH2
Name: malate dehydrogenase 2
RGD ID: 733026
HGNC Page HGNC:6971
Description: Enables L-malate dehydrogenase (NAD+) activity. Involved in aerobic respiration and malate metabolic process. Located in mitochondrion. Implicated in developmental and epileptic encephalopathy 51.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DEE51; EIEE51; M-MDH; malate dehydrogenase 2, NAD (mitochondrial); malate dehydrogenase, mitochondrial; MDH; MGC:3559; MOR1; testicular tissue protein Li 120
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-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
GRCh38776,048,106 - 76,067,508 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl776,048,051 - 76,067,508 (+)EnsemblGRCh38hg38GRCh38
GRCh37775,677,424 - 75,696,826 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36775,515,329 - 75,533,867 (+)NCBINCBI36Build 36hg18NCBI36
Build 34775,322,043 - 75,340,579NCBI
Celera770,545,928 - 70,564,452 (+)NCBICelera
Cytogenetic Map7q11.23NCBI
HuRef770,763,958 - 70,782,483 (+)NCBIHuRef
CHM1_1775,607,380 - 75,625,901 (+)NCBICHM1_1
T2T-CHM13v2.0777,335,642 - 77,355,027 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2775,010,457 - 75,028,995 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2,2-tetramine  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-sulfonyldiphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
7H-xanthine  (ISO)
9H-xanthine  (ISO)
acrolein  (ISO)
acrylamide  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
atrazine  (EXP)
azoxystrobin  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
bleomycin A2  (ISO)
Brodifacoum  (ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
celastrol  (EXP)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
cisplatin  (ISO)
clobetasol  (ISO)
copper(II) chloride  (ISO)
copper(II) sulfate  (EXP)
D-gluconic acid  (ISO)
decabromodiphenyl ether  (EXP)
deoxycholic acid  (ISO)
dexamethasone  (ISO)
dibutyl phthalate  (ISO)
dinophysistoxin 1  (EXP)
Diosbulbin B  (ISO)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
etoposide  (ISO)
fenbendazole  (EXP)
fenofibrate  (EXP)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
gedunin  (EXP)
hydrogen peroxide  (ISO)
indometacin  (ISO)
inulin  (ISO)
ivermectin  (EXP)
linalool  (EXP)
lipopolysaccharide  (EXP)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
mitoxantrone  (ISO)
Monobutylphthalate  (ISO)
N(gamma)-nitro-L-arginine methyl ester  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
nickel dichloride  (EXP)
nicotine  (ISO)
ouabain  (EXP)
ozone  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
PhIP  (ISO)
pirinixic acid  (ISO)
Propiverine  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
streptozocin  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
thimerosal  (EXP)
thiram  (EXP)
tributylstannane  (ISO)
trimellitic anhydride  (ISO)
triptonide  (ISO)
trovafloxacin  (ISO)
uranium atom  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)
zearalenone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IEA)
extracellular exosome  (HDA)
membrane  (IEA)
mitochondrial matrix  (IEA,ISO,TAS)
mitochondrion  (HDA,IBA,IDA,IEA)
nucleus  (HDA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal pyramidal sign  (IAGP)
Absent speech  (IAGP)
Adrenal pheochromocytoma  (IAGP)
Aniridia  (IAGP)
Arachnoid hemangiomatosis  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral hemorrhage  (IAGP)
Chest pain  (IAGP)
Conductive hearing impairment  (IAGP)
Congestive heart failure  (IAGP)
Constipation  (IAGP)
Corpus callosum atrophy  (IAGP)
Cranial nerve compression  (IAGP)
Delayed ability to crawl  (IAGP)
Delayed ability to sit  (IAGP)
Delayed CNS myelination  (IAGP)
Dyskinesia  (IAGP)
Dysphonia  (IAGP)
Dystonia  (IAGP)
Elevated circulating calcitonin concentration  (IAGP)
Elevated lactate:pyruvate ratio  (IAGP)
Elevated urinary dopamine level  (IAGP)
Elevated urinary epinephrine level  (IAGP)
Elevated urinary norepinephrine level  (IAGP)
Epileptic encephalopathy  (IAGP)
Epileptic spasm  (IAGP)
Episodic abdominal pain  (IAGP)
Episodic hyperhidrosis  (IAGP)
Episodic paroxysmal anxiety  (IAGP)
Extraadrenal pheochromocytoma  (IAGP)
Failure to thrive  (IAGP)
Fatigue  (IAGP)
Feeding difficulties  (IAGP)
Flushing  (IAGP)
Focal-onset seizure  (IAGP)
Generalized tonic seizure  (IAGP)
Global developmental delay  (IAGP)
Glomerular sclerosis  (IAGP)
Hematuria  (IAGP)
Hypercalcemia  (IAGP)
Hypertension associated with pheochromocytoma  (IAGP)
Hypertensive retinopathy  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Inability to walk  (IAGP)
Increased circulating lactate concentration  (IAGP)
Increased CSF lactate  (IAGP)
Infantile encephalopathy  (IAGP)
Infantile onset  (IAGP)
Muscle weakness  (IAGP)
Myoclonic seizure  (IAGP)
Nausea  (IAGP)
Neonatal onset  (IAGP)
Pallor  (IAGP)
Palpitations  (IAGP)
Panic attack  (IAGP)
Paraganglioma  (IAGP)
Paraganglioma of head and neck  (IAGP)
Paroxysmal vertigo  (IAGP)
Pleomorphic xanthoastrocytoma  (IAGP)
Poor head control  (IAGP)
Positive regitine blocking test  (IAGP)
Proteinuria  (IAGP)
Pulsatile tinnitus  (IAGP)
Recurrent paroxysmal headache  (IAGP)
Reduced eye contact  (IAGP)
Renal cell carcinoma  (IAGP)
Retinal capillary hemangioma  (IAGP)
Rod-cone dystrophy  (IAGP)
Seizure  (IAGP)
Sinus tachycardia  (IAGP)
Skeletal muscle atrophy  (IAGP)
Strabismus  (IAGP)
Supernumerary nipple  (IAGP)
Tremor  (IAGP)
Vocal cord paralysis  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Effects of ischemia and pharmacological treatment on subcellular fractions from neonatal rat brain. Curti D, etal., Farmaco Sci. 1982 Apr;37(4):275-82.
2. Adriamycin induced myocardial failure in rats: Protective role of Centella asiatica. Gnanapragasam A, etal., Mol Cell Biochem. 2006 Jun 20;.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Effect of alpha-tocopherol on mitochondrial electron transport in experimental myocardial infarction in rats. Ithayarasi AP and Shyamala Devi C, Indian J Biochem Biophys. 1998 Apr;35(2):115-9.
5. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
6. Preparation and properties of mitochondria derived from synaptosomes. Lai JC and Clark JB, Biochem J. 1976 Feb 15;154(2):423-32.
7. Neuronal and astrocytic shuttle mechanisms for cytosolic-mitochondrial transfer of reducing equivalents: current evidence and pharmacological tools. McKenna MC, etal., Biochem Pharmacol. 2006 Feb 14;71(4):399-407. Epub 2005 Dec 20.
8. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
9. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. NAD+/NADH and NADP+/NADPH in cellular functions and cell death: regulation and biological consequences. Ying W Antioxid Redox Signal. 2008 Feb;10(2):179-206.
Additional References at PubMed
PMID:606506   PMID:1505215   PMID:1602151   PMID:2759092   PMID:2899080   PMID:3591372   PMID:6439716   PMID:6576816   PMID:7285903   PMID:7698769   PMID:8349677   PMID:8401585  
PMID:9792106   PMID:9792662   PMID:10075524   PMID:11029287   PMID:12477932   PMID:12601813   PMID:12853948   PMID:14702039   PMID:15342556   PMID:15489334   PMID:15592455   PMID:15635413  
PMID:16169070   PMID:16740313   PMID:16751257   PMID:17603759   PMID:18029348   PMID:19056867   PMID:19135240   PMID:19738201   PMID:20167786   PMID:20379614   PMID:20458337   PMID:20833797  
PMID:20849852   PMID:20877624   PMID:21081666   PMID:21145461   PMID:21152271   PMID:21319273   PMID:21630459   PMID:21653829   PMID:21873635   PMID:22079093   PMID:22304920   PMID:22623428  
PMID:22658674   PMID:22681889   PMID:22939629   PMID:22944692   PMID:23349634   PMID:23376485   PMID:23473034   PMID:23503661   PMID:23533145   PMID:23874603   PMID:24711643   PMID:24981860  
PMID:25147182   PMID:25192599   PMID:25639359   PMID:25766404   PMID:25921289   PMID:25959826   PMID:26217791   PMID:26344197   PMID:26499835   PMID:26618866   PMID:26641092   PMID:26816005  
PMID:26831064   PMID:27342126   PMID:27591049   PMID:27637333   PMID:27684187   PMID:27989324   PMID:28130664   PMID:28137758   PMID:28302793   PMID:28330616   PMID:28433711   PMID:28443643  
PMID:28515276   PMID:29117863   PMID:29128334   PMID:29229926   PMID:29298432   PMID:29395067   PMID:29449217   PMID:29507755   PMID:29568061   PMID:29845934   PMID:29991511   PMID:30008476  
PMID:30021884   PMID:30194290   PMID:30559450   PMID:30561431   PMID:30575818   PMID:30711629   PMID:30833792   PMID:30884312   PMID:30890647   PMID:30948266   PMID:31046837   PMID:31056398  
PMID:31180492   PMID:31300519   PMID:31409639   PMID:31436131   PMID:31501420   PMID:31536960   PMID:31586073   PMID:31617661   PMID:31796584   PMID:31871319   PMID:31980649   PMID:32129710  
PMID:32529326   PMID:32628020   PMID:32687490   PMID:32707033   PMID:32807901   PMID:32877691   PMID:32941674   PMID:32963011   PMID:33545068   PMID:33565687   PMID:33729478   PMID:33762435  
PMID:33863777   PMID:33869196   PMID:33916271   PMID:33957083   PMID:34079125   PMID:34133714   PMID:34349018   PMID:34537242   PMID:34709727   PMID:34718610   PMID:34728620   PMID:34732716  
PMID:34766628   PMID:34825085   PMID:35012549   PMID:35013556   PMID:35031058   PMID:35122331   PMID:35235311   PMID:35271311   PMID:35446349   PMID:35546148   PMID:35562734   PMID:35831314  
PMID:35831895   PMID:35864588   PMID:35906200   PMID:35944360   PMID:36055981   PMID:36114006   PMID:36139014   PMID:36159820   PMID:36168627   PMID:36215168   PMID:36217030   PMID:36244648  
PMID:36527092   PMID:36575184   PMID:36584595   PMID:37071682   PMID:37827155   PMID:38113892  


Genomics

Comparative Map Data
MDH2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38776,048,106 - 76,067,508 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl776,048,051 - 76,067,508 (+)EnsemblGRCh38hg38GRCh38
GRCh37775,677,424 - 75,696,826 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36775,515,329 - 75,533,867 (+)NCBINCBI36Build 36hg18NCBI36
Build 34775,322,043 - 75,340,579NCBI
Celera770,545,928 - 70,564,452 (+)NCBICelera
Cytogenetic Map7q11.23NCBI
HuRef770,763,958 - 70,782,483 (+)NCBIHuRef
CHM1_1775,607,380 - 75,625,901 (+)NCBICHM1_1
T2T-CHM13v2.0777,335,642 - 77,355,027 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2775,010,457 - 75,028,995 (+)NCBI
Mdh2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395135,807,503 - 135,819,240 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5135,807,334 - 135,819,252 (+)EnsemblGRCm39 Ensembl
GRCm385135,778,649 - 135,790,386 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5135,778,480 - 135,790,398 (+)EnsemblGRCm38mm10GRCm38
MGSCv375136,254,519 - 136,266,256 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365136,063,276 - 136,075,013 (+)NCBIMGSCv36mm8
Celera5132,786,019 - 132,797,756 (+)NCBICelera
Cytogenetic Map5G2NCBI
cM Map575.4NCBI
Mdh2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81226,530,886 - 26,543,841 (-)NCBIGRCr8
mRatBN7.21220,894,269 - 20,907,225 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1220,894,262 - 20,907,271 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1222,036,216 - 22,049,189 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01222,648,634 - 22,661,607 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01221,715,096 - 21,728,069 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01223,941,451 - 23,954,406 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1223,941,448 - 23,954,431 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01225,938,703 - 25,951,658 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41222,021,302 - 22,034,257 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11222,008,565 - 22,021,518 (-)NCBI
Celera1222,657,034 - 22,669,988 (-)NCBICelera
Cytogenetic Map12q12NCBI
Mdh2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545614,819,406 - 14,837,142 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545614,819,406 - 14,833,547 (+)NCBIChiLan1.0ChiLan1.0
MDH2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2693,888,151 - 93,906,812 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17142,152,789 - 142,171,414 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0767,953,759 - 67,973,270 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1782,497,799 - 82,517,411 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl782,497,800 - 82,516,526 (+)Ensemblpanpan1.1panPan2
MDH2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.167,389,266 - 7,405,311 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha69,085,235 - 9,101,096 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.067,209,447 - 7,225,514 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl67,209,439 - 7,225,504 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.167,178,719 - 7,194,795 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.067,142,165 - 7,158,017 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.067,305,587 - 7,321,452 (+)NCBIUU_Cfam_GSD_1.0
Mdh2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344131,827,961 - 131,842,493 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365432,194,032 - 2,208,651 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365432,194,074 - 2,208,626 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MDH2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl310,120,083 - 10,132,752 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1310,120,121 - 10,132,705 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.239,953,279 - 9,965,866 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MDH2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12810,294,021 - 10,313,079 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2810,294,021 - 10,313,970 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660706,107,854 - 6,127,132 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mdh2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474014,837,023 - 14,850,988 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474014,837,699 - 14,850,126 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MDH2
558 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1 copy number loss See cases [RCV000050709] Chr7:71225344..81735657 [GRCh38]
Chr7:70690330..81364973 [GRCh37]
Chr7:70328266..81202909 [NCBI36]
Chr7:7q11.22-21.11
pathogenic
GRCh38/hg38 7q11.23(chr7:75526437-76499472)x1 copy number loss See cases [RCV000051302] Chr7:75526437..76499472 [GRCh38]
Chr7:75155767..76128789 [GRCh37]
Chr7:74993703..75966725 [NCBI36]
Chr7:7q11.23
uncertain significance
GRCh38/hg38 7q11.23(chr7:75567961-76584901)x1 copy number loss See cases [RCV000051303] Chr7:75567961..76584901 [GRCh38]
Chr7:75197265..76214218 [GRCh37]
Chr7:75035201..76052154 [NCBI36]
Chr7:7q11.23
uncertain significance
GRCh38/hg38 7q11.21-21.11(chr7:64560824-79186156)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|See cases [RCV000052318] Chr7:64560824..79186156 [GRCh38]
Chr7:64021202..78815472 [GRCh37]
Chr7:63658637..78653408 [NCBI36]
Chr7:7q11.21-21.11
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q11.23(chr7:75769688-76066509)x1 copy number loss See cases [RCV000052686] Chr7:75769688..76066509 [GRCh38]
Chr7:75236942..75533763 [NCBI36]
Chr7:7q11.23
uncertain significance
GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1 copy number loss See cases [RCV000054111] Chr7:69382353..77823832 [GRCh38]
Chr7:68847339..77453149 [GRCh37]
Chr7:68485275..77291085 [NCBI36]
Chr7:7q11.22-11.23
pathogenic
GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1 copy number loss See cases [RCV000054118] Chr7:73873420..83988860 [GRCh38]
Chr7:73992744..83618176 [GRCh37]
Chr7:72925686..83456112 [NCBI36]
Chr7:7q11.23-21.11
pathogenic
GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1 copy number loss See cases [RCV000054153] Chr7:75496701..78375575 [GRCh38]
Chr7:75126024..78004892 [GRCh37]
Chr7:74963960..77842828 [NCBI36]
Chr7:7q11.23-21.11
pathogenic
NM_005918.3(MDH2):c.706G>A (p.Glu236Lys) single nucleotide variant Malignant melanoma [RCV000067942] Chr7:76064411 [GRCh38]
Chr7:75693729 [GRCh37]
Chr7:75531665 [NCBI36]
Chr7:7q11.23
not provided
NM_005918.4(MDH2):c.641C>T (p.Pro214Leu) single nucleotide variant not provided [RCV001910921] Chr7:76064346 [GRCh38]
Chr7:75693664 [GRCh37]
Chr7:75531600 [NCBI36]
Chr7:7q11.23
uncertain significance|not provided
NM_005918.4(MDH2):c.376G>A (p.Ala126Thr) single nucleotide variant Developmental and epileptic encephalopathy, 51 [RCV001331490]|Inborn genetic diseases [RCV002350612]|not provided [RCV001863243] Chr7:76058025 [GRCh38]
Chr7:75687343 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1 copy number loss See cases [RCV000133638] Chr7:73352304..76722261 [GRCh38]
Chr7:72766313..76351578 [GRCh37]
Chr7:72404249..76189514 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q11.23(chr7:75432651-76418304)x1 copy number loss See cases [RCV000135520] Chr7:75432651..76418304 [GRCh38]
Chr7:75061927..76047621 [GRCh37]
Chr7:74899863..75885557 [NCBI36]
Chr7:7q11.23
likely pathogenic
GRCh38/hg38 7q11.23(chr7:75529854-76611483)x1 copy number loss See cases [RCV000136113] Chr7:75529854..76611483 [GRCh38]
Chr7:75159180..76240800 [GRCh37]
Chr7:74997116..76078736 [NCBI36]
Chr7:7q11.23
pathogenic
GRCh38/hg38 7q11.23(chr7:75568161-76584760)x1 copy number loss See cases [RCV000136550] Chr7:75568161..76584760 [GRCh38]
Chr7:75197465..76214077 [GRCh37]
Chr7:75035401..76052013 [NCBI36]
Chr7:7q11.23
uncertain significance
GRCh38/hg38 7q11.23(chr7:75529854-76626561)x3 copy number gain See cases [RCV000135929] Chr7:75529854..76626561 [GRCh38]
Chr7:75159180..76255878 [GRCh37]
Chr7:74997116..76093814 [NCBI36]
Chr7:7q11.23
uncertain significance
GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1 copy number loss See cases [RCV000142381] Chr7:74377395..82031742 [GRCh38]
Chr7:73992744..81661058 [GRCh37]
Chr7:73429661..81498994 [NCBI36]
Chr7:7q11.23-21.11
pathogenic
GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071) copy number gain See cases [RCV000143454] Chr7:72179092..79164071 [GRCh38]
Chr7:71644077..78793387 [GRCh37]
Chr7:71282013..78631323 [NCBI36]
Chr7:7q11.22-21.11
likely pathogenic
GRCh37/hg19 7q11.23(chr7:73591993-75914797)x1 copy number loss See cases [RCV000240532] Chr7:73591993..75914797 [GRCh37]
Chr7:7q11.23
likely pathogenic
NM_005918.4(MDH2):c.66+17G>A single nucleotide variant not provided [RCV000514427] Chr7:76048243 [GRCh38]
Chr7:75677561 [GRCh37]
Chr7:7q11.23
benign|likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7q11.23(chr7:75058408-77082896)x1 copy number loss See cases [RCV000449141] Chr7:75058408..77082896 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_005918.4(MDH2):c.596del (p.Gly199fs) deletion Developmental and epileptic encephalopathy, 51 [RCV000417042]|Infantile encephalopathy [RCV000509017] Chr7:76063554 [GRCh38]
Chr7:75692872 [GRCh37]
Chr7:7q11.23
pathogenic
NM_005918.4(MDH2):c.620C>T (p.Pro207Leu) single nucleotide variant Developmental and epileptic encephalopathy, 51 [RCV000417059]|Infantile encephalopathy [RCV000496994] Chr7:76063579 [GRCh38]
Chr7:75692897 [GRCh37]
Chr7:7q11.23
pathogenic
NM_005918.4(MDH2):c.109G>A (p.Gly37Arg) single nucleotide variant Developmental and epileptic encephalopathy, 51 [RCV000417051] Chr7:76054872 [GRCh38]
Chr7:75684190 [GRCh37]
Chr7:7q11.23
pathogenic
NM_005918.4(MDH2):c.398C>T (p.Pro133Leu) single nucleotide variant Developmental and epileptic encephalopathy, 51 [RCV000417053]|Infantile encephalopathy [RCV000496989]|not provided [RCV001855014] Chr7:76058047 [GRCh38]
Chr7:75687365 [GRCh37]
Chr7:7q11.23
pathogenic|likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q11.23(chr7:75155154-75729363)x1 copy number loss See cases [RCV000511396] Chr7:75155154..75729363 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q11.23(chr7:72456604-76007380)x1 copy number loss See cases [RCV000510782] Chr7:72456604..76007380 [GRCh37]
Chr7:7q11.23
pathogenic
NM_005918.4(MDH2):c.1000G>A (p.Val334Met) single nucleotide variant Inborn genetic diseases [RCV003295693]|not provided [RCV003730512] Chr7:76066393 [GRCh38]
Chr7:75695711 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.446C>T (p.Pro149Leu) single nucleotide variant Inborn genetic diseases [RCV003296824] Chr7:76060389 [GRCh38]
Chr7:75689707 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.263A>G (p.Asp88Gly) single nucleotide variant Inborn genetic diseases [RCV003296825] Chr7:76057437 [GRCh38]
Chr7:75686755 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.795A>G (p.Ala265=) single nucleotide variant Inborn genetic diseases [RCV003296827] Chr7:76064863 [GRCh38]
Chr7:75694181 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.530C>T (p.Ala177Val) single nucleotide variant Inborn genetic diseases [RCV003296828] Chr7:76060473 [GRCh38]
Chr7:75689791 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.965A>C (p.Glu322Ala) single nucleotide variant Inborn genetic diseases [RCV003296829] Chr7:76066358 [GRCh38]
Chr7:75695676 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.360T>G (p.Ile120Met) single nucleotide variant Inborn genetic diseases [RCV003296830] Chr7:76058009 [GRCh38]
Chr7:75687327 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.539T>C (p.Phe180Ser) single nucleotide variant Inborn genetic diseases [RCV003296831] Chr7:76060482 [GRCh38]
Chr7:75689800 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.29G>C (p.Ser10Thr) single nucleotide variant Inborn genetic diseases [RCV003296832] Chr7:76048189 [GRCh38]
Chr7:75677507 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.21G>A (p.Arg7=) single nucleotide variant Inborn genetic diseases [RCV003296833] Chr7:76048181 [GRCh38]
Chr7:75677499 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.787G>A (p.Val263Met) single nucleotide variant Inborn genetic diseases [RCV003296821] Chr7:76064855 [GRCh38]
Chr7:75694173 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.40C>G (p.Arg14Gly) single nucleotide variant Inborn genetic diseases [RCV003296822] Chr7:76048200 [GRCh38]
Chr7:75677518 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.474T>A (p.His158Gln) single nucleotide variant Inborn genetic diseases [RCV003296823] Chr7:76060417 [GRCh38]
Chr7:75689735 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.916G>A (p.Gly306Ser) single nucleotide variant not provided [RCV000659076] Chr7:76066309 [GRCh38]
Chr7:75695627 [GRCh37]
Chr7:7q11.23
likely benign|conflicting interpretations of pathogenicity|uncertain significance
Single allele deletion not provided [RCV000677988] Chr7:73591993..93683437 [GRCh37]
Chr7:7q11.23-21.3
uncertain significance
GRCh37/hg19 7q11.23(chr7:75384846-76279036)x3 copy number gain not provided [RCV000682872] Chr7:75384846..76279036 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh37/hg19 7q11.23(chr7:75085013-75995207)x3 copy number gain not provided [RCV000682874] Chr7:75085013..75995207 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh37/hg19 7q11.23(chr7:75082354-76007380)x1 copy number loss not provided [RCV000682875] Chr7:75082354..76007380 [GRCh37]
Chr7:7q11.23
likely pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q11.23(chr7:75536736-75769049)x3 copy number gain not provided [RCV000746818] Chr7:75536736..75769049 [GRCh37]
Chr7:7q11.23
benign
GRCh37/hg19 7q11.23-21.11(chr7:75588704-80277632)x1 copy number loss not provided [RCV000746819] Chr7:75588704..80277632 [GRCh37]
Chr7:7q11.23-21.11
pathogenic
NM_005918.4(MDH2):c.*180A>G single nucleotide variant not provided [RCV001611338] Chr7:76066590 [GRCh38]
Chr7:75695908 [GRCh37]
Chr7:7q11.23
benign
NM_005918.4(MDH2):c.138C>T (p.Asn46=) single nucleotide variant not provided [RCV000958342] Chr7:76054901 [GRCh38]
Chr7:75684219 [GRCh37]
Chr7:7q11.23
benign
NM_005918.4(MDH2):c.543T>G (p.Val181=) single nucleotide variant Inborn genetic diseases [RCV002346168]|not provided [RCV000962212] Chr7:76060486 [GRCh38]
Chr7:75689804 [GRCh37]
Chr7:7q11.23
benign|likely benign
NM_005918.4(MDH2):c.1004del (p.Lys335fs) deletion not provided [RCV001907651] Chr7:76066396 [GRCh38]
Chr7:75695714 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.555G>A (p.Lys185=) single nucleotide variant not provided [RCV000883828] Chr7:76060498 [GRCh38]
Chr7:75689816 [GRCh37]
Chr7:7q11.23
benign
NM_005918.4(MDH2):c.504C>T (p.Gly168=) single nucleotide variant Inborn genetic diseases [RCV002346065]|not provided [RCV000897620] Chr7:76060447 [GRCh38]
Chr7:75689765 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.480G>A (p.Val160=) single nucleotide variant Inborn genetic diseases [RCV002336889]|not provided [RCV000905200] Chr7:76060423 [GRCh38]
Chr7:75689741 [GRCh37]
Chr7:7q11.23
benign|likely benign
NM_005918.4(MDH2):c.555+8C>T single nucleotide variant not provided [RCV000971109] Chr7:76060506 [GRCh38]
Chr7:75689824 [GRCh37]
Chr7:7q11.23
benign|likely benign
NM_005918.4(MDH2):c.982A>C (p.Lys328Gln) single nucleotide variant MDH2-related disorder [RCV003940851]|not provided [RCV000900259] Chr7:76066375 [GRCh38]
Chr7:75695693 [GRCh37]
Chr7:7q11.23
benign
NM_005918.4(MDH2):c.999C>T (p.Phe333=) single nucleotide variant Inborn genetic diseases [RCV002382044]|not provided [RCV000898304] Chr7:76066392 [GRCh38]
Chr7:75695710 [GRCh37]
Chr7:7q11.23
benign|likely benign
NM_005918.4(MDH2):c.735C>T (p.Gly245=) single nucleotide variant Inborn genetic diseases [RCV002382200]|MDH2-related disorder [RCV003953356]|not provided [RCV000976146] Chr7:76064803 [GRCh38]
Chr7:75694121 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.399G>T (p.Pro133=) single nucleotide variant Inborn genetic diseases [RCV002372668]|not provided [RCV000962211] Chr7:76058048 [GRCh38]
Chr7:75687366 [GRCh37]
Chr7:7q11.23
benign|likely benign
NM_005918.4(MDH2):c.417C>T (p.Val139=) single nucleotide variant Inborn genetic diseases [RCV002332862]|not provided [RCV000895540] Chr7:76058066 [GRCh38]
Chr7:75687384 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.807G>A (p.Lys269=) single nucleotide variant Inborn genetic diseases [RCV002409304]|not provided [RCV000980315] Chr7:76064875 [GRCh38]
Chr7:75694193 [GRCh37]
Chr7:7q11.23
likely benign
GRCh37/hg19 7q11.23(chr7:72744494-76038818) copy number loss Williams syndrome [RCV000767638] Chr7:72744494..76038818 [GRCh37]
Chr7:7q11.23
pathogenic
NM_005918.4(MDH2):c.26C>T (p.Ala9Val) single nucleotide variant not provided [RCV000826602] Chr7:76048186 [GRCh38]
Chr7:75677504 [GRCh37]
Chr7:7q11.23
benign
GRCh37/hg19 7q11.23(chr7:75076890-76007283)x3 copy number gain not provided [RCV000849303] Chr7:75076890..76007283 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.750C>T (p.Ser250=) single nucleotide variant Inborn genetic diseases [RCV002391023]|not provided [RCV000978505] Chr7:76064818 [GRCh38]
Chr7:75694136 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.633+9A>C single nucleotide variant not provided [RCV000895384] Chr7:76063601 [GRCh38]
Chr7:75692919 [GRCh37]
Chr7:7q11.23
benign
GRCh37/hg19 7q11.23(chr7:75233243-76007283)x3 copy number gain not provided [RCV000849638] Chr7:75233243..76007283 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh37/hg19 7q11.23(chr7:75091878-76117614)x1 copy number loss not provided [RCV000848509] Chr7:75091878..76117614 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.319+165A>G single nucleotide variant not provided [RCV001534495] Chr7:76057658 [GRCh38]
Chr7:75686976 [GRCh37]
Chr7:7q11.23
benign
NM_005918.4(MDH2):c.633+99C>T single nucleotide variant not provided [RCV001690900] Chr7:76063691 [GRCh38]
Chr7:75693009 [GRCh37]
Chr7:7q11.23
benign
NM_005918.4(MDH2):c.66+195G>A single nucleotide variant not provided [RCV001612511] Chr7:76048421 [GRCh38]
Chr7:75677739 [GRCh37]
Chr7:7q11.23
benign
NM_005918.4(MDH2):c.192G>A (p.Val64=) single nucleotide variant not provided [RCV000886645] Chr7:76054955 [GRCh38]
Chr7:75684273 [GRCh37]
Chr7:7q11.23
benign
NM_005918.4(MDH2):c.415G>A (p.Val139Ile) single nucleotide variant Inborn genetic diseases [RCV002332855]|MDH2-related disorder [RCV003930666]|not provided [RCV000886118]|not specified [RCV003493754] Chr7:76058064 [GRCh38]
Chr7:75687382 [GRCh37]
Chr7:7q11.23
benign|likely benign|uncertain significance
NM_005918.4(MDH2):c.873G>A (p.Pro291=) single nucleotide variant Inborn genetic diseases [RCV002445127]|not provided [RCV000977765] Chr7:76064941 [GRCh38]
Chr7:75694259 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.300T>G (p.Ala100=) single nucleotide variant Inborn genetic diseases [RCV002434204]|not provided [RCV000907412] Chr7:76057474 [GRCh38]
Chr7:75686792 [GRCh37]
Chr7:7q11.23
benign|likely benign
NM_005918.4(MDH2):c.756G>A (p.Ala252=) single nucleotide variant Inborn genetic diseases [RCV002390877]|not provided [RCV000895059] Chr7:76064824 [GRCh38]
Chr7:75694142 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.633+17C>T single nucleotide variant not provided [RCV001655993] Chr7:76063609 [GRCh38]
Chr7:75692927 [GRCh37]
Chr7:7q11.23
benign
GRCh37/hg19 7q11.23(chr7:75085014-76007380)x1 copy number loss not provided [RCV002472641] Chr7:75085014..76007380 [GRCh37]
Chr7:7q11.23
likely pathogenic
GRCh37/hg19 7q11.23(chr7:75146858-75995207)x3 copy number gain not provided [RCV002473454] Chr7:75146858..75995207 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.902A>G (p.Lys301Arg) single nucleotide variant not provided [RCV001674599] Chr7:76066295 [GRCh38]
Chr7:75695613 [GRCh37]
Chr7:7q11.23
benign
NM_005918.4(MDH2):c.885+77del deletion not provided [RCV001677500] Chr7:76065028 [GRCh38]
Chr7:75694346 [GRCh37]
Chr7:7q11.23
benign
NM_005918.4(MDH2):c.556-21G>T single nucleotide variant not provided [RCV001720790] Chr7:76063494 [GRCh38]
Chr7:75692812 [GRCh37]
Chr7:7q11.23
benign
GRCh37/hg19 7q11.23(chr7:72621722-76007380)x1 copy number loss not provided [RCV001005967] Chr7:72621722..76007380 [GRCh37]
Chr7:7q11.23
pathogenic
NM_005918.4(MDH2):c.734-157T>C single nucleotide variant not provided [RCV001643739] Chr7:76064645 [GRCh38]
Chr7:75693963 [GRCh37]
Chr7:7q11.23
benign
NM_005918.4(MDH2):c.66+34G>T single nucleotide variant not provided [RCV001611614] Chr7:76048260 [GRCh38]
Chr7:75677578 [GRCh37]
Chr7:7q11.23
benign
NM_005918.4(MDH2):c.734-41T>G single nucleotide variant not provided [RCV001668923] Chr7:76064761 [GRCh38]
Chr7:75694079 [GRCh37]
Chr7:7q11.23
benign
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_005918.4(MDH2):c.686G>A (p.Arg229Gln) single nucleotide variant Developmental and epileptic encephalopathy, 51 [RCV001263005]|Inborn genetic diseases [RCV002541602]|not provided [RCV001880051] Chr7:76064391 [GRCh38]
Chr7:75693709 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1 copy number loss not provided [RCV001258798] Chr7:72403117..76709600 [GRCh37]
Chr7:7q11.23
pathogenic
GRCh37/hg19 7q11.23(chr7:75680491-75802523)x1 copy number loss not provided [RCV001258801] Chr7:75680491..75802523 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.421G>A (p.Ala141Thr) single nucleotide variant Developmental and epileptic encephalopathy, 51 [RCV001331491]|Inborn genetic diseases [RCV002329303]|not provided [RCV001863244] Chr7:76058070 [GRCh38]
Chr7:75687388 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.297G>A (p.Pro99=) single nucleotide variant Inborn genetic diseases [RCV002437067]|not provided [RCV001312120] Chr7:76057471 [GRCh38]
Chr7:75686789 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.4C>G (p.Leu2Val) single nucleotide variant Developmental and epileptic encephalopathy, 51 [RCV001331492] Chr7:76048164 [GRCh38]
Chr7:75677482 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.465C>G (p.Phe155Leu) single nucleotide variant Developmental and epileptic encephalopathy, 51 [RCV001335340] Chr7:76060408 [GRCh38]
Chr7:75689726 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.899A>G (p.Glu300Gly) single nucleotide variant Developmental and epileptic encephalopathy, 51 [RCV001420520]|Inborn genetic diseases [RCV002377664] Chr7:76066292 [GRCh38]
Chr7:75695610 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_001317785.2(STYXL1):c.-241G>A single nucleotide variant not provided [RCV001693562] Chr7:76047898 [GRCh38]
Chr7:75677216 [GRCh37]
Chr7:7q11.23
benign
NM_005918.4(MDH2):c.633+55C>G single nucleotide variant not provided [RCV001617744] Chr7:76063647 [GRCh38]
Chr7:75692965 [GRCh37]
Chr7:7q11.23
benign
NM_005918.4(MDH2):c.885+7A>G single nucleotide variant not provided [RCV001484001] Chr7:76064960 [GRCh38]
Chr7:75694278 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.796A>G (p.Met266Val) single nucleotide variant not provided [RCV003108626] Chr7:76064864 [GRCh38]
Chr7:75694182 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.226G>A (p.Ala76Thr) single nucleotide variant Inborn genetic diseases [RCV003163909]|not provided [RCV003238109] Chr7:76054989 [GRCh38]
Chr7:75684307 [GRCh37]
Chr7:7q11.23
likely benign|uncertain significance
NM_005918.4(MDH2):c.690C>G (p.Ile230Met) single nucleotide variant Inborn genetic diseases [RCV002361049]|not provided [RCV003238108] Chr7:76064395 [GRCh38]
Chr7:75693713 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.191T>C (p.Val64Ala) single nucleotide variant not provided [RCV001885120] Chr7:76054954 [GRCh38]
Chr7:75684272 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.866C>G (p.Ser289Cys) single nucleotide variant Inborn genetic diseases [RCV003167037]|not provided [RCV001915017] Chr7:76064934 [GRCh38]
Chr7:75694252 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.898G>A (p.Glu300Lys) single nucleotide variant not provided [RCV001971054] Chr7:76066291 [GRCh38]
Chr7:75695609 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.359T>C (p.Ile120Thr) single nucleotide variant Inborn genetic diseases [RCV002334839]|not provided [RCV001915073] Chr7:76058008 [GRCh38]
Chr7:75687326 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.509C>T (p.Thr170Met) single nucleotide variant not provided [RCV001928353] Chr7:76060452 [GRCh38]
Chr7:75689770 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.22C>G (p.Pro8Ala) single nucleotide variant Inborn genetic diseases [RCV002458916]|not provided [RCV001971277] Chr7:76048182 [GRCh38]
Chr7:75677500 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.457G>C (p.Glu153Gln) single nucleotide variant not provided [RCV001874160] Chr7:76060400 [GRCh38]
Chr7:75689718 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.913A>G (p.Ile305Val) single nucleotide variant Inborn genetic diseases [RCV002579586]|not provided [RCV002025350] Chr7:76066306 [GRCh38]
Chr7:75695624 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.326C>T (p.Thr109Ile) single nucleotide variant not provided [RCV002005872] Chr7:76057975 [GRCh38]
Chr7:75687293 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.859T>C (p.Tyr287His) single nucleotide variant Inborn genetic diseases [RCV004040342]|not provided [RCV001930049] Chr7:76064927 [GRCh38]
Chr7:75694245 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.854G>C (p.Cys285Ser) single nucleotide variant not provided [RCV001894852] Chr7:76064922 [GRCh38]
Chr7:75694240 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV001965163] Chr7:76048163 [GRCh38]
Chr7:75677481 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.886-3C>A single nucleotide variant not provided [RCV001965423] Chr7:76066276 [GRCh38]
Chr7:75695594 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.196G>A (p.Ala66Thr) single nucleotide variant Inborn genetic diseases [RCV002422992]|not provided [RCV001927529] Chr7:76054959 [GRCh38]
Chr7:75684277 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.733+5A>T single nucleotide variant not provided [RCV001893791] Chr7:76064443 [GRCh38]
Chr7:75693761 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.886A>C (p.Lys296Gln) single nucleotide variant not provided [RCV001968541] Chr7:76066279 [GRCh38]
Chr7:75695597 [GRCh37]
Chr7:7q11.23
uncertain significance
NC_000007.14:g.(75058300_?)_(?_79083658)del deletion Distal 7q11.23 microdeletion syndrome [RCV001839073] Chr7:75058300..79083658 [GRCh38]
Chr7:7q11.23-21.11
pathogenic
NM_005918.4(MDH2):c.572G>A (p.Arg191Gln) single nucleotide variant Inborn genetic diseases [RCV002343898]|not provided [RCV001893982] Chr7:76063531 [GRCh38]
Chr7:75692849 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.328C>T (p.Arg110Trp) single nucleotide variant Inborn genetic diseases [RCV002443017]|not provided [RCV001986958] Chr7:76057977 [GRCh38]
Chr7:75687295 [GRCh37]
Chr7:7q11.23
uncertain significance
GRCh37/hg19 7q11.23(chr7:75591417-75729363)x1 copy number loss not provided [RCV001834348] Chr7:75591417..75729363 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.638C>A (p.Thr213Asn) single nucleotide variant not provided [RCV002006849] Chr7:76064343 [GRCh38]
Chr7:75693661 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.894C>T (p.Gly298=) single nucleotide variant Inborn genetic diseases [RCV002370617]|not provided [RCV001985523] Chr7:76066287 [GRCh38]
Chr7:75695605 [GRCh37]
Chr7:7q11.23
likely benign|uncertain significance
NM_005918.4(MDH2):c.561G>C (p.Leu187Phe) single nucleotide variant Inborn genetic diseases [RCV003170553]|not provided [RCV002022700] Chr7:76063520 [GRCh38]
Chr7:75692838 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV001984356] Chr7:76048162 [GRCh38]
Chr7:75677480 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.429+1G>T single nucleotide variant not provided [RCV002020332] Chr7:76058079 [GRCh38]
Chr7:75687397 [GRCh37]
Chr7:7q11.23
pathogenic|uncertain significance
NM_005918.4(MDH2):c.950C>T (p.Ser317Leu) single nucleotide variant not provided [RCV002023536] Chr7:76066343 [GRCh38]
Chr7:75695661 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.370C>G (p.Leu124Val) single nucleotide variant Inborn genetic diseases [RCV003161270]|not provided [RCV002021373] Chr7:76058019 [GRCh38]
Chr7:75687337 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.932T>C (p.Phe311Ser) single nucleotide variant Inborn genetic diseases [RCV003166998]|not provided [RCV001884637] Chr7:76066325 [GRCh38]
Chr7:75695643 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.235+6G>A single nucleotide variant not provided [RCV001888177] Chr7:76055004 [GRCh38]
Chr7:75684322 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.16G>C (p.Ala6Pro) single nucleotide variant Inborn genetic diseases [RCV002406951]|not provided [RCV001905489] Chr7:76048176 [GRCh38]
Chr7:75677494 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.591del (p.Ile197fs) deletion not provided [RCV002019725] Chr7:76063549 [GRCh38]
Chr7:75692867 [GRCh37]
Chr7:7q11.23
pathogenic|uncertain significance
NM_005918.4(MDH2):c.832G>A (p.Val278Ile) single nucleotide variant Inborn genetic diseases [RCV003170415]|not provided [RCV002033697] Chr7:76064900 [GRCh38]
Chr7:75694218 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.580G>A (p.Val194Ile) single nucleotide variant not provided [RCV001888725] Chr7:76063539 [GRCh38]
Chr7:75692857 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.734-6C>G single nucleotide variant not provided [RCV001919794] Chr7:76064796 [GRCh38]
Chr7:75694114 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.167_168del (p.Leu55_Tyr56insTer) deletion not provided [RCV002039166] Chr7:76054929..76054930 [GRCh38]
Chr7:75684247..75684248 [GRCh37]
Chr7:7q11.23
pathogenic|uncertain significance
NC_000007.13:g.(?_75583311)_(75988125_?)del deletion not provided [RCV001942954] Chr7:75583311..75988125 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.807G>C (p.Lys269Asn) single nucleotide variant not provided [RCV001887926] Chr7:76064875 [GRCh38]
Chr7:75694193 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.886A>G (p.Lys296Glu) single nucleotide variant not provided [RCV002014021] Chr7:76066279 [GRCh38]
Chr7:75695597 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.397C>G (p.Pro133Ala) single nucleotide variant not provided [RCV001887614] Chr7:76058046 [GRCh38]
Chr7:75687364 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.627C>G (p.Ile209Met) single nucleotide variant Inborn genetic diseases [RCV003375562]|not provided [RCV002038433] Chr7:76063586 [GRCh38]
Chr7:75692904 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.885+14C>T single nucleotide variant not provided [RCV002038826] Chr7:76064967 [GRCh38]
Chr7:75694285 [GRCh37]
Chr7:7q11.23
likely benign|uncertain significance
NC_000007.13:g.(?_75677479)_(75687416_?)dup duplication not provided [RCV001936891] Chr7:75677479..75687416 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.404C>G (p.Ala135Gly) single nucleotide variant Inborn genetic diseases [RCV002324455]|not provided [RCV001978510] Chr7:76058053 [GRCh38]
Chr7:75687371 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.733+3A>T single nucleotide variant not provided [RCV001920322] Chr7:76064441 [GRCh38]
Chr7:75693759 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.704C>T (p.Thr235Met) single nucleotide variant not provided [RCV001932345] Chr7:76064409 [GRCh38]
Chr7:75693727 [GRCh37]
Chr7:7q11.23
uncertain significance
NC_000007.13:g.(?_75684128)_(75684336_?)del deletion not provided [RCV001989936] Chr7:75684128..75684336 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.505G>A (p.Val169Met) single nucleotide variant Inborn genetic diseases [RCV003170468]|not provided [RCV002015080] Chr7:76060448 [GRCh38]
Chr7:75689766 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.244G>A (p.Gly82Arg) single nucleotide variant not provided [RCV001876536] Chr7:76057418 [GRCh38]
Chr7:75686736 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.1000G>T (p.Val334Leu) single nucleotide variant Inborn genetic diseases [RCV002361093]|not provided [RCV002047174] Chr7:76066393 [GRCh38]
Chr7:75695711 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.635G>A (p.Cys212Tyr) single nucleotide variant Inborn genetic diseases [RCV002361086]|not provided [RCV002049988] Chr7:76064340 [GRCh38]
Chr7:75693658 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.157dup (p.Leu53fs) duplication Inborn genetic diseases [RCV002548963]|not provided [RCV002027641] Chr7:76054918..76054919 [GRCh38]
Chr7:75684236..75684237 [GRCh37]
Chr7:7q11.23
pathogenic|uncertain significance
NM_005918.4(MDH2):c.885+5G>A single nucleotide variant Developmental and epileptic encephalopathy, 51 [RCV003773104]|not provided [RCV001976296] Chr7:76064958 [GRCh38]
Chr7:75694276 [GRCh37]
Chr7:7q11.23
pathogenic|uncertain significance
NM_005918.4(MDH2):c.46A>G (p.Ser16Gly) single nucleotide variant Inborn genetic diseases [RCV002331588]|not provided [RCV001989525] Chr7:76048206 [GRCh38]
Chr7:75677524 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.517G>A (p.Asp173Asn) single nucleotide variant Developmental and epileptic encephalopathy, 51 [RCV003772784]|not provided [RCV001937891] Chr7:76060460 [GRCh38]
Chr7:75689778 [GRCh37]
Chr7:7q11.23
pathogenic|uncertain significance
NM_005918.4(MDH2):c.407T>C (p.Met136Thr) single nucleotide variant Inborn genetic diseases [RCV003166938]|not provided [RCV001905820] Chr7:76058056 [GRCh38]
Chr7:75687374 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.790G>A (p.Asp264Asn) single nucleotide variant Inborn genetic diseases [RCV003170506]|not provided [RCV001996507] Chr7:76064858 [GRCh38]
Chr7:75694176 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.844G>A (p.Glu282Lys) single nucleotide variant Inborn genetic diseases [RCV002442934]|not provided [RCV001997102] Chr7:76064912 [GRCh38]
Chr7:75694230 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.226G>T (p.Ala76Ser) single nucleotide variant Inborn genetic diseases [RCV002443063]|not provided [RCV002027268] Chr7:76054989 [GRCh38]
Chr7:75684307 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.236-2A>C single nucleotide variant not provided [RCV001936336] Chr7:76057408 [GRCh38]
Chr7:75686726 [GRCh37]
Chr7:7q11.23
likely pathogenic|uncertain significance
NM_005918.4(MDH2):c.763G>A (p.Gly255Ser) single nucleotide variant Inborn genetic diseases [RCV002388821]|not provided [RCV001938039] Chr7:76064831 [GRCh38]
Chr7:75694149 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.700G>A (p.Gly234Ser) single nucleotide variant not provided [RCV001997240] Chr7:76064405 [GRCh38]
Chr7:75693723 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.767C>T (p.Ala256Val) single nucleotide variant not provided [RCV001982031] Chr7:76064835 [GRCh38]
Chr7:75694153 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.733+5_733+6del microsatellite not provided [RCV001919890] Chr7:76064441..76064442 [GRCh38]
Chr7:75693759..75693760 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.133A>C (p.Lys45Gln) single nucleotide variant not provided [RCV002010018] Chr7:76054896 [GRCh38]
Chr7:75684214 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.565C>G (p.Pro189Ala) single nucleotide variant Inborn genetic diseases [RCV003355761]|not provided [RCV002047749] Chr7:76063524 [GRCh38]
Chr7:75692842 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.659A>G (p.Gln220Arg) single nucleotide variant Inborn genetic diseases [RCV002370392]|not provided [RCV001905327] Chr7:76064364 [GRCh38]
Chr7:75693682 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.555+3A>G single nucleotide variant not provided [RCV001996682] Chr7:76060501 [GRCh38]
Chr7:75689819 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.368C>T (p.Thr123Ile) single nucleotide variant not provided [RCV001998610] Chr7:76058017 [GRCh38]
Chr7:75687335 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.416T>C (p.Val139Ala) single nucleotide variant Inborn genetic diseases [RCV002331371]|not provided [RCV001905083] Chr7:76058065 [GRCh38]
Chr7:75687383 [GRCh37]
Chr7:7q11.23
uncertain significance
NC_000007.13:g.(?_75677479)_(75687416_?)del deletion not provided [RCV001981638] Chr7:75677479..75687416 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.442A>T (p.Ile148Phe) single nucleotide variant Inborn genetic diseases [RCV002331394]|not provided [RCV001883563] Chr7:76060385 [GRCh38]
Chr7:75689703 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.138C>G (p.Asn46Lys) single nucleotide variant not provided [RCV001884848] Chr7:76054901 [GRCh38]
Chr7:75684219 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.727G>A (p.Gly243Arg) single nucleotide variant Inborn genetic diseases [RCV004039030]|not provided [RCV001867036] Chr7:76064432 [GRCh38]
Chr7:75693750 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.478G>A (p.Val160Met) single nucleotide variant MDH2-related disorder [RCV003401789]|not provided [RCV001899809] Chr7:76060421 [GRCh38]
Chr7:75689739 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.20G>A (p.Arg7Gln) single nucleotide variant not provided [RCV002012617] Chr7:76048180 [GRCh38]
Chr7:75677498 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.155G>A (p.Arg52His) single nucleotide variant not provided [RCV001901950] Chr7:76054918 [GRCh38]
Chr7:75684236 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.733+2T>C single nucleotide variant not provided [RCV001922898] Chr7:76064440 [GRCh38]
Chr7:75693758 [GRCh37]
Chr7:7q11.23
likely pathogenic|uncertain significance
NM_005918.4(MDH2):c.633+6C>T single nucleotide variant not provided [RCV001979614] Chr7:76063598 [GRCh38]
Chr7:75692916 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.225C>T (p.Ala75=) single nucleotide variant Inborn genetic diseases [RCV002443156]|not provided [RCV002090555] Chr7:76054988 [GRCh38]
Chr7:75684306 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.66+14G>A single nucleotide variant not provided [RCV002192373] Chr7:76048240 [GRCh38]
Chr7:75677558 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.67-6T>C single nucleotide variant not provided [RCV002186571] Chr7:76054824 [GRCh38]
Chr7:75684142 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.915C>T (p.Ile305=) single nucleotide variant Inborn genetic diseases [RCV002372933]|not provided [RCV002109612] Chr7:76066308 [GRCh38]
Chr7:75695626 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.66+11C>T single nucleotide variant not provided [RCV002164976] Chr7:76048237 [GRCh38]
Chr7:75677555 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.685C>G (p.Arg229Gly) single nucleotide variant Inborn genetic diseases [RCV002361431]|MDH2-related disorder [RCV003978519]|not provided [RCV002165105] Chr7:76064390 [GRCh38]
Chr7:75693708 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.849G>A (p.Thr283=) single nucleotide variant Inborn genetic diseases [RCV002409523]|not provided [RCV002146940] Chr7:76064917 [GRCh38]
Chr7:75694235 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.87G>T (p.Val29=) single nucleotide variant Inborn genetic diseases [RCV002372942]|not provided [RCV002146890] Chr7:76054850 [GRCh38]
Chr7:75684168 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.319+15G>T single nucleotide variant not provided [RCV002144782] Chr7:76057508 [GRCh38]
Chr7:75686826 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.522C>T (p.Ile174=) single nucleotide variant Inborn genetic diseases [RCV002337182]|not provided [RCV002072764] Chr7:76060465 [GRCh38]
Chr7:75689783 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.399G>A (p.Pro133=) single nucleotide variant Inborn genetic diseases [RCV002324535]|not provided [RCV002187555] Chr7:76058048 [GRCh38]
Chr7:75687366 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.315G>A (p.Lys105=) single nucleotide variant Inborn genetic diseases [RCV002325653]|not provided [RCV002086336] Chr7:76057489 [GRCh38]
Chr7:75686807 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.375C>T (p.Thr125=) single nucleotide variant Inborn genetic diseases [RCV002346340]|not provided [RCV002087623] Chr7:76058024 [GRCh38]
Chr7:75687342 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.235+10G>A single nucleotide variant not provided [RCV002214762] Chr7:76055008 [GRCh38]
Chr7:75684326 [GRCh37]
Chr7:7q11.23
benign
NM_005918.4(MDH2):c.66+15G>A single nucleotide variant not provided [RCV002214849] Chr7:76048241 [GRCh38]
Chr7:75677559 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.66+19G>A single nucleotide variant not provided [RCV002169119] Chr7:76048245 [GRCh38]
Chr7:75677563 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.501C>T (p.Phe167=) single nucleotide variant Inborn genetic diseases [RCV002346341]|not provided [RCV002071400] Chr7:76060444 [GRCh38]
Chr7:75689762 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.951G>C (p.Ser317=) single nucleotide variant Inborn genetic diseases [RCV003303723]|not provided [RCV002196969] Chr7:76066344 [GRCh38]
Chr7:75695662 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.66+14G>T single nucleotide variant not provided [RCV002146666] Chr7:76048240 [GRCh38]
Chr7:75677558 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.222A>G (p.Lys74=) single nucleotide variant Inborn genetic diseases [RCV002427716]|not provided [RCV002193441] Chr7:76054985 [GRCh38]
Chr7:75684303 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.429G>A (p.Pro143=) single nucleotide variant not provided [RCV002213976] Chr7:76058078 [GRCh38]
Chr7:75687396 [GRCh37]
Chr7:7q11.23
benign
NM_005918.4(MDH2):c.792T>C (p.Asp264=) single nucleotide variant Inborn genetic diseases [RCV002423341]|not provided [RCV002090656] Chr7:76064860 [GRCh38]
Chr7:75694178 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.909G>C (p.Leu303=) single nucleotide variant Inborn genetic diseases [RCV002372908]|MDH2-related disorder [RCV003978624]|not provided [RCV002095278] Chr7:76066302 [GRCh38]
Chr7:75695620 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.87G>A (p.Val29=) single nucleotide variant Inborn genetic diseases [RCV002372866]|not provided [RCV002209336] Chr7:76054850 [GRCh38]
Chr7:75684168 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.966G>A (p.Glu322=) single nucleotide variant Inborn genetic diseases [RCV002372894]|not provided [RCV002093077] Chr7:76066359 [GRCh38]
Chr7:75695677 [GRCh37]
Chr7:7q11.23
benign|likely benign
NM_005918.4(MDH2):c.30C>T (p.Ser10=) single nucleotide variant Inborn genetic diseases [RCV002325677]|not provided [RCV002134328] Chr7:76048190 [GRCh38]
Chr7:75677508 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.556-18T>G single nucleotide variant not provided [RCV002193538] Chr7:76063497 [GRCh38]
Chr7:75692815 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.228T>C (p.Ala76=) single nucleotide variant Inborn genetic diseases [RCV003164304]|not provided [RCV002208383] Chr7:76054991 [GRCh38]
Chr7:75684309 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.734-5C>A single nucleotide variant not provided [RCV002133578] Chr7:76064797 [GRCh38]
Chr7:75694115 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.951G>A (p.Ser317=) single nucleotide variant Inborn genetic diseases [RCV002372948]|not provided [RCV002137347] Chr7:76066344 [GRCh38]
Chr7:75695662 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.186C>T (p.Pro62=) single nucleotide variant Inborn genetic diseases [RCV002409576]|not provided [RCV002136027] Chr7:76054949 [GRCh38]
Chr7:75684267 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.510G>A (p.Thr170=) single nucleotide variant Inborn genetic diseases [RCV002337358]|not provided [RCV002140023] Chr7:76060453 [GRCh38]
Chr7:75689771 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.733+20C>T single nucleotide variant not provided [RCV002158842] Chr7:76064458 [GRCh38]
Chr7:75693776 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.168T>C (p.Tyr56=) single nucleotide variant Inborn genetic diseases [RCV002398216]|not provided [RCV002103124] Chr7:76054931 [GRCh38]
Chr7:75684249 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.831C>T (p.Phe277=) single nucleotide variant Inborn genetic diseases [RCV002427565]|not provided [RCV002180446] Chr7:76064899 [GRCh38]
Chr7:75694217 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.825T>C (p.Cys275=) single nucleotide variant not provided [RCV002144402] Chr7:76064893 [GRCh38]
Chr7:75694211 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.886-11A>T single nucleotide variant not provided [RCV002184534] Chr7:76066268 [GRCh38]
Chr7:75695586 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.513C>T (p.Thr171=) single nucleotide variant Inborn genetic diseases [RCV003161567]|not provided [RCV002101895] Chr7:76060456 [GRCh38]
Chr7:75689774 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.430-19T>C single nucleotide variant not provided [RCV002102031] Chr7:76060354 [GRCh38]
Chr7:75689672 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.114G>A (p.Gln38=) single nucleotide variant not provided [RCV002220955] Chr7:76054877 [GRCh38]
Chr7:75684195 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.555+16G>T single nucleotide variant not provided [RCV002136473] Chr7:76060514 [GRCh38]
Chr7:75689832 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.485A>G (p.Asn162Ser) single nucleotide variant not provided [RCV002101215] Chr7:76060428 [GRCh38]
Chr7:75689746 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.66+12G>C single nucleotide variant not provided [RCV002184304] Chr7:76048238 [GRCh38]
Chr7:75677556 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.258G>A (p.Leu86=) single nucleotide variant Inborn genetic diseases [RCV002441285]|not provided [RCV002202897] Chr7:76057432 [GRCh38]
Chr7:75686750 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.492C>T (p.Asn164=) single nucleotide variant Inborn genetic diseases [RCV002337376]|not provided [RCV002161008] Chr7:76060435 [GRCh38]
Chr7:75689753 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.699C>T (p.Ala233=) single nucleotide variant Inborn genetic diseases [RCV002372861]|MDH2-related disorder [RCV003950934]|not provided [RCV002200153] Chr7:76064404 [GRCh38]
Chr7:75693722 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.235+11C>T single nucleotide variant not provided [RCV002118383] Chr7:76055009 [GRCh38]
Chr7:75684327 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.195C>T (p.Ala65=) single nucleotide variant Inborn genetic diseases [RCV002416517]|not provided [RCV002176238] Chr7:76054958 [GRCh38]
Chr7:75684276 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.177G>A (p.Ala59=) single nucleotide variant Developmental and epileptic encephalopathy, 51 [RCV002500206]|Inborn genetic diseases [RCV002400341]|not provided [RCV002118593] Chr7:76054940 [GRCh38]
Chr7:75684258 [GRCh37]
Chr7:7q11.23
benign|likely benign
NM_005918.4(MDH2):c.633+7G>A single nucleotide variant not provided [RCV002102710] Chr7:76063599 [GRCh38]
Chr7:75692917 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.582C>G (p.Val194=) single nucleotide variant Inborn genetic diseases [RCV002352782]|not provided [RCV002082587] Chr7:76063541 [GRCh38]
Chr7:75692859 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.45C>T (p.Arg15=) single nucleotide variant Inborn genetic diseases [RCV002337186]|not provided [RCV002176749] Chr7:76048205 [GRCh38]
Chr7:75677523 [GRCh37]
Chr7:7q11.23
benign|likely benign
NM_005918.4(MDH2):c.579C>T (p.Asn193=) single nucleotide variant Inborn genetic diseases [RCV002352783]|not provided [RCV002082814] Chr7:76063538 [GRCh38]
Chr7:75692856 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.333C>T (p.Asp111=) single nucleotide variant Inborn genetic diseases [RCV002324550]|not provided [RCV002216525] Chr7:76057982 [GRCh38]
Chr7:75687300 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.36T>C (p.Ala12=) single nucleotide variant Inborn genetic diseases [RCV004046619]|not provided [RCV002135972] Chr7:76048196 [GRCh38]
Chr7:75677514 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.734-6C>T single nucleotide variant not provided [RCV002217574] Chr7:76064796 [GRCh38]
Chr7:75694114 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.429+19G>A single nucleotide variant not provided [RCV002119041] Chr7:76058097 [GRCh38]
Chr7:75687415 [GRCh37]
Chr7:7q11.23
likely benign
NC_000007.13:g.(?_75692813)_(75692930_?)del deletion not provided [RCV003116460] Chr7:75692813..75692930 [GRCh37]
Chr7:7q11.23
uncertain significance
NC_000007.13:g.(?_75677479)_(75684336_?)del deletion not provided [RCV003116461] Chr7:75677479..75684336 [GRCh37]
Chr7:7q11.23
uncertain significance
NC_000007.13:g.(?_75583311)_(75695728_?)dup duplication not provided [RCV003116462] Chr7:75583311..75695728 [GRCh37]
Chr7:7q11.23
uncertain significance
NC_000007.13:g.(?_75583311)_(75988125_?)dup duplication not provided [RCV003116619] Chr7:75583311..75988125 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.775G>T (p.Val259Phe) single nucleotide variant Inborn genetic diseases [RCV003295977] Chr7:76064843 [GRCh38]
Chr7:75694161 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.722A>C (p.Lys241Thr) single nucleotide variant Inborn genetic diseases [RCV003295978] Chr7:76064427 [GRCh38]
Chr7:75693745 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.947T>A (p.Ile316Asn) single nucleotide variant Inborn genetic diseases [RCV003295979] Chr7:76066340 [GRCh38]
Chr7:75695658 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.912C>T (p.Gly304=) single nucleotide variant Inborn genetic diseases [RCV003295980]|not provided [RCV003777102] Chr7:76066305 [GRCh38]
Chr7:75695623 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.159G>A (p.Leu53=) single nucleotide variant Inborn genetic diseases [RCV003295981] Chr7:76054922 [GRCh38]
Chr7:75684240 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.19C>T (p.Arg7Trp) single nucleotide variant Inborn genetic diseases [RCV003295982] Chr7:76048179 [GRCh38]
Chr7:75677497 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.663C>T (p.Asp221=) single nucleotide variant Inborn genetic diseases [RCV002366778]|not provided [RCV003679101] Chr7:76064368 [GRCh38]
Chr7:75693686 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.33T>A (p.Ala11=) single nucleotide variant Inborn genetic diseases [RCV002452063] Chr7:76048193 [GRCh38]
Chr7:75677511 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.339G>A (p.Leu113=) single nucleotide variant Inborn genetic diseases [RCV002451994] Chr7:76057988 [GRCh38]
Chr7:75687306 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.339G>C (p.Leu113=) single nucleotide variant Inborn genetic diseases [RCV002452003]|not provided [RCV003099454] Chr7:76057988 [GRCh38]
Chr7:75687306 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.808G>C (p.Glu270Gln) single nucleotide variant Inborn genetic diseases [RCV002419430]|not provided [RCV003099838] Chr7:76064876 [GRCh38]
Chr7:75694194 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.79G>A (p.Val27Ile) single nucleotide variant Inborn genetic diseases [RCV002419146]|not provided [RCV003103466] Chr7:76054842 [GRCh38]
Chr7:75684160 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.79G>C (p.Val27Leu) single nucleotide variant Inborn genetic diseases [RCV002419152] Chr7:76054842 [GRCh38]
Chr7:75684160 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.740C>G (p.Ala247Gly) single nucleotide variant Inborn genetic diseases [RCV002384916] Chr7:76064808 [GRCh38]
Chr7:75694126 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.363G>T (p.Val121=) single nucleotide variant Inborn genetic diseases [RCV002452422] Chr7:76058012 [GRCh38]
Chr7:75687330 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.741C>T (p.Ala247=) single nucleotide variant Inborn genetic diseases [RCV002384964] Chr7:76064809 [GRCh38]
Chr7:75694127 [GRCh37]
Chr7:7q11.23
likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
NM_005918.4(MDH2):c.974C>T (p.Ala325Val) single nucleotide variant Inborn genetic diseases [RCV002387090]|not provided [RCV003688990] Chr7:76066367 [GRCh38]
Chr7:75695685 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.356C>T (p.Thr119Met) single nucleotide variant Inborn genetic diseases [RCV002454987] Chr7:76058005 [GRCh38]
Chr7:75687323 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.551T>A (p.Leu184Gln) single nucleotide variant Inborn genetic diseases [RCV002351769] Chr7:76060494 [GRCh38]
Chr7:75689812 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.977C>T (p.Ser326Phe) single nucleotide variant Inborn genetic diseases [RCV002387167] Chr7:76066370 [GRCh38]
Chr7:75695688 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.289G>A (p.Val97Ile) single nucleotide variant Inborn genetic diseases [RCV002438022] Chr7:76057463 [GRCh38]
Chr7:75686781 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.369C>T (p.Thr123=) single nucleotide variant Inborn genetic diseases [RCV002348872] Chr7:76058018 [GRCh38]
Chr7:75687336 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.666G>A (p.Gln222=) single nucleotide variant Inborn genetic diseases [RCV002366948]|not provided [RCV003698932] Chr7:76064371 [GRCh38]
Chr7:75693689 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.110G>A (p.Gly37Glu) single nucleotide variant Inborn genetic diseases [RCV002453180] Chr7:76054873 [GRCh38]
Chr7:75684191 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.132G>T (p.Leu44=) single nucleotide variant Inborn genetic diseases [RCV002385900] Chr7:76054895 [GRCh38]
Chr7:75684213 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.35C>T (p.Ala12Val) single nucleotide variant Inborn genetic diseases [RCV002455184] Chr7:76048195 [GRCh38]
Chr7:75677513 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.622C>T (p.Leu208=) single nucleotide variant Inborn genetic diseases [RCV002366559] Chr7:76063581 [GRCh38]
Chr7:75692899 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.98C>G (p.Ser33Cys) single nucleotide variant Inborn genetic diseases [RCV002387450]|not provided [RCV003094892] Chr7:76054861 [GRCh38]
Chr7:75684179 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.540T>C (p.Phe180=) single nucleotide variant Inborn genetic diseases [RCV002349422] Chr7:76060483 [GRCh38]
Chr7:75689801 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.132G>A (p.Leu44=) single nucleotide variant Inborn genetic diseases [RCV002385892] Chr7:76054895 [GRCh38]
Chr7:75684213 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.963C>T (p.Pro321=) single nucleotide variant Inborn genetic diseases [RCV002385360]|not provided [RCV003560999] Chr7:76066356 [GRCh38]
Chr7:75695674 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.964G>A (p.Glu322Lys) single nucleotide variant Inborn genetic diseases [RCV002385381] Chr7:76066357 [GRCh38]
Chr7:75695675 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.552G>A (p.Leu184=) single nucleotide variant Inborn genetic diseases [RCV002351820] Chr7:76060495 [GRCh38]
Chr7:75689813 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.357G>A (p.Thr119=) single nucleotide variant Inborn genetic diseases [RCV002455077] Chr7:76058006 [GRCh38]
Chr7:75687324 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.667C>T (p.Leu223=) single nucleotide variant Inborn genetic diseases [RCV002367003] Chr7:76064372 [GRCh38]
Chr7:75693690 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.807G>T (p.Lys269Asn) single nucleotide variant Inborn genetic diseases [RCV002419397] Chr7:76064875 [GRCh38]
Chr7:75694193 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.541G>T (p.Val181Phe) single nucleotide variant Inborn genetic diseases [RCV002349486] Chr7:76060484 [GRCh38]
Chr7:75689802 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.669G>A (p.Leu223=) single nucleotide variant Inborn genetic diseases [RCV002367113] Chr7:76064374 [GRCh38]
Chr7:75693692 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.268C>G (p.Leu90Val) single nucleotide variant Inborn genetic diseases [RCV002437352]|not provided [RCV003102115] Chr7:76057442 [GRCh38]
Chr7:75686760 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.983A>G (p.Lys328Arg) single nucleotide variant Inborn genetic diseases [RCV002387260] Chr7:76066376 [GRCh38]
Chr7:75695694 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.130C>T (p.Leu44=) single nucleotide variant Inborn genetic diseases [RCV002385400] Chr7:76054893 [GRCh38]
Chr7:75684211 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.491A>G (p.Asn164Ser) single nucleotide variant Inborn genetic diseases [RCV002351249] Chr7:76060434 [GRCh38]
Chr7:75689752 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.636C>T (p.Cys212=) single nucleotide variant Inborn genetic diseases [RCV002369074] Chr7:76064341 [GRCh38]
Chr7:75693659 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.674C>T (p.Ala225Val) single nucleotide variant Inborn genetic diseases [RCV002369217] Chr7:76064379 [GRCh38]
Chr7:75693697 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.195C>G (p.Ala65=) single nucleotide variant Inborn genetic diseases [RCV002421694] Chr7:76054958 [GRCh38]
Chr7:75684276 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.676C>T (p.Leu226Phe) single nucleotide variant Inborn genetic diseases [RCV002369304] Chr7:76064381 [GRCh38]
Chr7:75693699 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.623T>C (p.Leu208Pro) single nucleotide variant Inborn genetic diseases [RCV002366615] Chr7:76063582 [GRCh38]
Chr7:75692900 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.637A>C (p.Thr213Pro) single nucleotide variant Inborn genetic diseases [RCV002369109] Chr7:76064342 [GRCh38]
Chr7:75693660 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.375C>A (p.Thr125=) single nucleotide variant Inborn genetic diseases [RCV002349344]|not provided [RCV003102435] Chr7:76058024 [GRCh38]
Chr7:75687342 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.100G>A (p.Gly34Arg) single nucleotide variant Inborn genetic diseases [RCV002437609] Chr7:76054863 [GRCh38]
Chr7:75684181 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.329G>A (p.Arg110Gln) single nucleotide variant Inborn genetic diseases [RCV002454670]|not provided [RCV003099377] Chr7:76057978 [GRCh38]
Chr7:75687296 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.32C>T (p.Ala11Val) single nucleotide variant Inborn genetic diseases [RCV002454681] Chr7:76048192 [GRCh38]
Chr7:75677510 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.745C>T (p.Leu249Phe) single nucleotide variant Inborn genetic diseases [RCV002385151] Chr7:76064813 [GRCh38]
Chr7:75694131 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.119T>C (p.Leu40Pro) single nucleotide variant Inborn genetic diseases [RCV002346907] Chr7:76054882 [GRCh38]
Chr7:75684200 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.569C>T (p.Ala190Val) single nucleotide variant Inborn genetic diseases [RCV002347526] Chr7:76063528 [GRCh38]
Chr7:75692846 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.459A>G (p.Glu153=) single nucleotide variant Inborn genetic diseases [RCV002342316]|not provided [RCV003546778] Chr7:76060402 [GRCh38]
Chr7:75689720 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.187G>A (p.Gly63Arg) single nucleotide variant Inborn genetic diseases [RCV002415278] Chr7:76054950 [GRCh38]
Chr7:75684268 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.498C>G (p.Ile166Met) single nucleotide variant Inborn genetic diseases [RCV002342926] Chr7:76060441 [GRCh38]
Chr7:75689759 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.414C>T (p.Cys138=) single nucleotide variant Inborn genetic diseases [RCV002333214] Chr7:76058063 [GRCh38]
Chr7:75687381 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.784C>T (p.Leu262Phe) single nucleotide variant Inborn genetic diseases [RCV002412192] Chr7:76064852 [GRCh38]
Chr7:75694170 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.884G>T (p.Gly295Val) single nucleotide variant Developmental and epileptic encephalopathy, 51 [RCV002468746] Chr7:76064952 [GRCh38]
Chr7:75694270 [GRCh37]
Chr7:7q11.23
likely pathogenic
GRCh37/hg19 7q11.23(chr7:75091880-75951903)x3 copy number gain not provided [RCV002472796] Chr7:75091880..75951903 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.857C>T (p.Thr286Ile) single nucleotide variant Inborn genetic diseases [RCV002414492] Chr7:76064925 [GRCh38]
Chr7:75694243 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.12C>A (p.Ala4=) single nucleotide variant Inborn genetic diseases [RCV002380774]|not provided [RCV003774247] Chr7:76048172 [GRCh38]
Chr7:75677490 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.211A>G (p.Ile71Val) single nucleotide variant Inborn genetic diseases [RCV002417588] Chr7:76054974 [GRCh38]
Chr7:75684292 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.261T>C (p.Pro87=) single nucleotide variant Inborn genetic diseases [RCV002426393] Chr7:76057435 [GRCh38]
Chr7:75686753 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.917G>C (p.Gly306Ala) single nucleotide variant Inborn genetic diseases [RCV002450033]|not provided [RCV003103567] Chr7:76066310 [GRCh38]
Chr7:75695628 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.236G>T (p.Gly79Val) single nucleotide variant Inborn genetic diseases [RCV002450169] Chr7:76057410 [GRCh38]
Chr7:75686728 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.661G>C (p.Asp221His) single nucleotide variant Inborn genetic diseases [RCV002364615] Chr7:76064366 [GRCh38]
Chr7:75693684 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.61G>T (p.Ala21Ser) single nucleotide variant Inborn genetic diseases [RCV002353852] Chr7:76048221 [GRCh38]
Chr7:75677539 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.446C>G (p.Pro149Arg) single nucleotide variant Inborn genetic diseases [RCV002328464] Chr7:76060389 [GRCh38]
Chr7:75689707 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.249T>A (p.Pro83=) single nucleotide variant Inborn genetic diseases [RCV002431057]|not provided [RCV003660962] Chr7:76057423 [GRCh38]
Chr7:75686741 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.769C>T (p.Arg257Cys) single nucleotide variant Inborn genetic diseases [RCV002400555] Chr7:76064837 [GRCh38]
Chr7:75694155 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.687G>A (p.Arg229=) single nucleotide variant Inborn genetic diseases [RCV002362222]|not provided [RCV003546796] Chr7:76064392 [GRCh38]
Chr7:75693710 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.449T>A (p.Ile150Asn) single nucleotide variant Inborn genetic diseases [RCV002328674] Chr7:76060392 [GRCh38]
Chr7:75689710 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.175G>A (p.Ala59Thr) single nucleotide variant Inborn genetic diseases [RCV002407597] Chr7:76054938 [GRCh38]
Chr7:75684256 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.788T>C (p.Val263Ala) single nucleotide variant Inborn genetic diseases [RCV002416587] Chr7:76064856 [GRCh38]
Chr7:75694174 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.189A>G (p.Gly63=) single nucleotide variant Inborn genetic diseases [RCV002408181] Chr7:76054952 [GRCh38]
Chr7:75684270 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.488C>A (p.Pro163His) single nucleotide variant Inborn genetic diseases [RCV002340531]|not provided [RCV003096509] Chr7:76060431 [GRCh38]
Chr7:75689749 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.199G>T (p.Asp67Tyr) single nucleotide variant Inborn genetic diseases [RCV002417080] Chr7:76054962 [GRCh38]
Chr7:75684280 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.872C>T (p.Pro291Leu) single nucleotide variant Inborn genetic diseases [RCV002373495]|not provided [RCV003100012] Chr7:76064940 [GRCh38]
Chr7:75694258 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.1007C>T (p.Thr336Ile) single nucleotide variant Inborn genetic diseases [RCV002425518] Chr7:76066400 [GRCh38]
Chr7:75695718 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.405C>T (p.Ala135=) single nucleotide variant Inborn genetic diseases [RCV002321371] Chr7:76058054 [GRCh38]
Chr7:75687372 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.852A>G (p.Glu284=) single nucleotide variant Inborn genetic diseases [RCV002447789] Chr7:76064920 [GRCh38]
Chr7:75694238 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.379G>A (p.Ala127Thr) single nucleotide variant Inborn genetic diseases [RCV002363944] Chr7:76058028 [GRCh38]
Chr7:75687346 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.862T>G (p.Phe288Val) single nucleotide variant Inborn genetic diseases [RCV002449612] Chr7:76064930 [GRCh38]
Chr7:75694248 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.483C>T (p.Tyr161=) single nucleotide variant Inborn genetic diseases [RCV002338116] Chr7:76060426 [GRCh38]
Chr7:75689744 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.770G>A (p.Arg257His) single nucleotide variant Inborn genetic diseases [RCV002400633]|not provided [RCV003099724] Chr7:76064838 [GRCh38]
Chr7:75694156 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.290T>C (p.Val97Ala) single nucleotide variant Inborn genetic diseases [RCV002439822] Chr7:76057464 [GRCh38]
Chr7:75686782 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.724G>T (p.Ala242Ser) single nucleotide variant Inborn genetic diseases [RCV002371109] Chr7:76064429 [GRCh38]
Chr7:75693747 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.508A>C (p.Thr170Pro) single nucleotide variant Inborn genetic diseases [RCV002335918] Chr7:76060451 [GRCh38]
Chr7:75689769 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.129C>T (p.Leu43=) single nucleotide variant Inborn genetic diseases [RCV002380750] Chr7:76054892 [GRCh38]
Chr7:75684210 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.705G>A (p.Thr235=) single nucleotide variant Inborn genetic diseases [RCV002365024]|not provided [RCV003776344] Chr7:76064410 [GRCh38]
Chr7:75693728 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.126T>A (p.Leu42=) single nucleotide variant Inborn genetic diseases [RCV002376169] Chr7:76054889 [GRCh38]
Chr7:75684207 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.823T>A (p.Cys275Ser) single nucleotide variant Inborn genetic diseases [RCV002430125] Chr7:76064891 [GRCh38]
Chr7:75694209 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.680C>T (p.Thr227Ile) single nucleotide variant Inborn genetic diseases [RCV002369531]|not provided [RCV003098391] Chr7:76064385 [GRCh38]
Chr7:75693703 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.935A>T (p.Glu312Val) single nucleotide variant Inborn genetic diseases [RCV002371703] Chr7:76066328 [GRCh38]
Chr7:75695646 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.897C>T (p.Ile299=) single nucleotide variant Inborn genetic diseases [RCV002376250]|not provided [RCV003100072] Chr7:76066290 [GRCh38]
Chr7:75695608 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.618C>A (p.Ile206=) single nucleotide variant Inborn genetic diseases [RCV002353804]|not provided [RCV003565537] Chr7:76063577 [GRCh38]
Chr7:75692895 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.729A>G (p.Gly243=) single nucleotide variant Inborn genetic diseases [RCV002382710] Chr7:76064434 [GRCh38]
Chr7:75693752 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.72T>C (p.Asn24=) single nucleotide variant Inborn genetic diseases [RCV002382784]|not provided [RCV003669286] Chr7:76054835 [GRCh38]
Chr7:75684153 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.292A>G (p.Ile98Val) single nucleotide variant Inborn genetic diseases [RCV002440031] Chr7:76057466 [GRCh38]
Chr7:75686784 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.606G>A (p.Gly202=) single nucleotide variant Inborn genetic diseases [RCV002358368] Chr7:76063565 [GRCh38]
Chr7:75692883 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.309C>T (p.Pro103=) single nucleotide variant Inborn genetic diseases [RCV002325898]|not provided [RCV003565519] Chr7:76057483 [GRCh38]
Chr7:75686801 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.465C>T (p.Phe155=) single nucleotide variant Inborn genetic diseases [RCV002335097] Chr7:76060408 [GRCh38]
Chr7:75689726 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.516G>A (p.Leu172=) single nucleotide variant Inborn genetic diseases [RCV002338379]|not provided [RCV003669279] Chr7:76060459 [GRCh38]
Chr7:75689777 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.908T>C (p.Leu303Pro) single nucleotide variant Inborn genetic diseases [RCV002449996] Chr7:76066301 [GRCh38]
Chr7:75695619 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.179A>C (p.His60Pro) single nucleotide variant Inborn genetic diseases [RCV002407834]|not provided [RCV003100848] Chr7:76054942 [GRCh38]
Chr7:75684260 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.929C>G (p.Ser310Cys) single nucleotide variant Inborn genetic diseases [RCV002371498] Chr7:76066322 [GRCh38]
Chr7:75695640 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.823T>C (p.Cys275Arg) single nucleotide variant Inborn genetic diseases [RCV002430127]|not provided [RCV003103487] Chr7:76064891 [GRCh38]
Chr7:75694209 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.690C>A (p.Ile230=) single nucleotide variant Inborn genetic diseases [RCV002378078] Chr7:76064395 [GRCh38]
Chr7:75693713 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.824G>A (p.Cys275Tyr) single nucleotide variant Inborn genetic diseases [RCV002430150] Chr7:76064892 [GRCh38]
Chr7:75694210 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.250G>A (p.Glu84Lys) single nucleotide variant Inborn genetic diseases [RCV002432924] Chr7:76057424 [GRCh38]
Chr7:75686742 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.27C>T (p.Ala9=) single nucleotide variant Inborn genetic diseases [RCV002441548] Chr7:76048187 [GRCh38]
Chr7:75677505 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.762C>T (p.Ala254=) single nucleotide variant Inborn genetic diseases [RCV002396295]|MDH2-related disorder [RCV003896150]|not provided [RCV003099703] Chr7:76064830 [GRCh38]
Chr7:75694148 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.243C>T (p.Leu81=) single nucleotide variant Inborn genetic diseases [RCV002459998]|not provided [RCV003698958] Chr7:76057417 [GRCh38]
Chr7:75686735 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.115C>A (p.Pro39Thr) single nucleotide variant Inborn genetic diseases [RCV002357547] Chr7:76054878 [GRCh38]
Chr7:75684196 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.321C>G (p.Gly107=) single nucleotide variant Inborn genetic diseases [RCV002445467] Chr7:76057970 [GRCh38]
Chr7:75687288 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.419T>C (p.Ile140Thr) single nucleotide variant Inborn genetic diseases [RCV002327836] Chr7:76058068 [GRCh38]
Chr7:75687386 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.937G>A (p.Glu313Lys) single nucleotide variant Inborn genetic diseases [RCV002371748] Chr7:76066330 [GRCh38]
Chr7:75695648 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.472C>G (p.His158Asp) single nucleotide variant Inborn genetic diseases [RCV002335453] Chr7:76060415 [GRCh38]
Chr7:75689733 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.652T>A (p.Phe218Ile) single nucleotide variant Inborn genetic diseases [RCV002364286] Chr7:76064357 [GRCh38]
Chr7:75693675 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.293T>G (p.Ile98Ser) single nucleotide variant Inborn genetic diseases [RCV002440156] Chr7:76057467 [GRCh38]
Chr7:75686785 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.176C>A (p.Ala59Glu) single nucleotide variant Inborn genetic diseases [RCV002401794] Chr7:76054939 [GRCh38]
Chr7:75684257 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.324G>A (p.Met108Ile) single nucleotide variant Inborn genetic diseases [RCV002445612] Chr7:76057973 [GRCh38]
Chr7:75687291 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.174C>T (p.Ile58=) single nucleotide variant Inborn genetic diseases [RCV002401551]|not provided [RCV003738252] Chr7:76054937 [GRCh38]
Chr7:75684255 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.831C>G (p.Phe277Leu) single nucleotide variant Inborn genetic diseases [RCV002430410] Chr7:76064899 [GRCh38]
Chr7:75694217 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.981C>T (p.Ile327=) single nucleotide variant Inborn genetic diseases [RCV002376832] Chr7:76066374 [GRCh38]
Chr7:75695692 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.911G>T (p.Gly304Val) single nucleotide variant Inborn genetic diseases [RCV002378706] Chr7:76066304 [GRCh38]
Chr7:75695622 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.420T>C (p.Ile140=) single nucleotide variant Inborn genetic diseases [RCV002327955] Chr7:76058069 [GRCh38]
Chr7:75687387 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.296C>T (p.Pro99Leu) single nucleotide variant Inborn genetic diseases [RCV002442074] Chr7:76057470 [GRCh38]
Chr7:75686788 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.57C>T (p.Thr19=) single nucleotide variant Inborn genetic diseases [RCV002359851] Chr7:76048217 [GRCh38]
Chr7:75677535 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.247C>T (p.Pro83Ser) single nucleotide variant Inborn genetic diseases [RCV002430779] Chr7:76057421 [GRCh38]
Chr7:75686739 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.48C>T (p.Ser16=) single nucleotide variant Inborn genetic diseases [RCV002340611]|not provided [RCV003096513] Chr7:76048208 [GRCh38]
Chr7:75677526 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.160A>G (p.Thr54Ala) single nucleotide variant Inborn genetic diseases [RCV002394807] Chr7:76054923 [GRCh38]
Chr7:75684241 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.96C>T (p.Ala32=) single nucleotide variant Inborn genetic diseases [RCV002376640]|not provided [RCV003103604] Chr7:76054859 [GRCh38]
Chr7:75684177 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.330G>A (p.Arg110=) single nucleotide variant Inborn genetic diseases [RCV002326294] Chr7:76057979 [GRCh38]
Chr7:75687297 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.580G>T (p.Val194Phe) single nucleotide variant Inborn genetic diseases [RCV002353106] Chr7:76063539 [GRCh38]
Chr7:75692857 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.602C>A (p.Ala201Asp) single nucleotide variant Inborn genetic diseases [RCV002358153] Chr7:76063561 [GRCh38]
Chr7:75692879 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.47G>T (p.Ser16Ile) single nucleotide variant Inborn genetic diseases [RCV002337869] Chr7:76048207 [GRCh38]
Chr7:75677525 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.427C>G (p.Pro143Ala) single nucleotide variant Inborn genetic diseases [RCV002330099] Chr7:76058076 [GRCh38]
Chr7:75687394 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.581T>C (p.Val194Ala) single nucleotide variant Inborn genetic diseases [RCV002353151]|not provided [RCV003103236] Chr7:76063540 [GRCh38]
Chr7:75692858 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.274G>T (p.Gly92Cys) single nucleotide variant Inborn genetic diseases [RCV002439358] Chr7:76057448 [GRCh38]
Chr7:75686766 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.41G>A (p.Arg14His) single nucleotide variant Inborn genetic diseases [RCV002327857] Chr7:76048201 [GRCh38]
Chr7:75677519 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.818T>C (p.Val273Ala) single nucleotide variant Inborn genetic diseases [RCV002427846] Chr7:76064886 [GRCh38]
Chr7:75694204 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.726C>T (p.Ala242=) single nucleotide variant Inborn genetic diseases [RCV002382576] Chr7:76064431 [GRCh38]
Chr7:75693749 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.176C>T (p.Ala59Val) single nucleotide variant Inborn genetic diseases [RCV002401797] Chr7:76054939 [GRCh38]
Chr7:75684257 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.73G>C (p.Ala25Pro) single nucleotide variant Inborn genetic diseases [RCV002380524] Chr7:76054836 [GRCh38]
Chr7:75684154 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.428C>T (p.Pro143Leu) single nucleotide variant Inborn genetic diseases [RCV002330186]|not provided [RCV003102558] Chr7:76058077 [GRCh38]
Chr7:75687395 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.883G>A (p.Gly295Arg) single nucleotide variant Inborn genetic diseases [RCV002373797] Chr7:76064951 [GRCh38]
Chr7:75694269 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.839C>T (p.Ser280Leu) single nucleotide variant Inborn genetic diseases [RCV002434879] Chr7:76064907 [GRCh38]
Chr7:75694225 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.752T>C (p.Met251Thr) single nucleotide variant Inborn genetic diseases [RCV002393880] Chr7:76064820 [GRCh38]
Chr7:75694138 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.165C>G (p.Leu55=) single nucleotide variant Inborn genetic diseases [RCV002403792] Chr7:76054928 [GRCh38]
Chr7:75684246 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.191T>G (p.Val64Gly) single nucleotide variant Inborn genetic diseases [RCV002410687] Chr7:76054954 [GRCh38]
Chr7:75684272 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.920A>G (p.Lys307Arg) single nucleotide variant Inborn genetic diseases [RCV002371250] Chr7:76066313 [GRCh38]
Chr7:75695631 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.108C>T (p.Ile36=) single nucleotide variant Inborn genetic diseases [RCV002443896]|not provided [RCV003679128] Chr7:76054871 [GRCh38]
Chr7:75684189 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.90A>G (p.Leu30=) single nucleotide variant Inborn genetic diseases [RCV002378620] Chr7:76054853 [GRCh38]
Chr7:75684171 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.897C>A (p.Ile299=) single nucleotide variant Inborn genetic diseases [RCV002449924]|not provided [RCV003120978] Chr7:76066290 [GRCh38]
Chr7:75695608 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.782C>T (p.Ser261Phe) single nucleotide variant Inborn genetic diseases [RCV002412112] Chr7:76064850 [GRCh38]
Chr7:75694168 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.534C>A (p.Asn178Lys) single nucleotide variant Inborn genetic diseases [RCV002346933] Chr7:76060477 [GRCh38]
Chr7:75689795 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.306C>A (p.Val102=) single nucleotide variant Inborn genetic diseases [RCV002444303] Chr7:76057480 [GRCh38]
Chr7:75686798 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.48C>G (p.Ser16Arg) single nucleotide variant Inborn genetic diseases [RCV002332404] Chr7:76048208 [GRCh38]
Chr7:75677526 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.864C>T (p.Phe288=) single nucleotide variant Inborn genetic diseases [RCV002371211] Chr7:76064932 [GRCh38]
Chr7:75694250 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.617T>G (p.Ile206Ser) single nucleotide variant Inborn genetic diseases [RCV002353772] Chr7:76063576 [GRCh38]
Chr7:75692894 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.600T>A (p.His200Gln) single nucleotide variant Inborn genetic diseases [RCV002358059] Chr7:76063559 [GRCh38]
Chr7:75692877 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.458A>T (p.Glu153Val) single nucleotide variant Inborn genetic diseases [RCV002342260] Chr7:76060401 [GRCh38]
Chr7:75689719 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.758A>G (p.Tyr253Cys) single nucleotide variant Inborn genetic diseases [RCV002394144] Chr7:76064826 [GRCh38]
Chr7:75694144 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.143C>T (p.Pro48Leu) single nucleotide variant Inborn genetic diseases [RCV002394334] Chr7:76054906 [GRCh38]
Chr7:75684224 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.855T>C (p.Cys285=) single nucleotide variant Inborn genetic diseases [RCV002447860] Chr7:76064923 [GRCh38]
Chr7:75694241 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.354C>T (p.Ala118=) single nucleotide variant Inborn genetic diseases [RCV002339730] Chr7:76058003 [GRCh38]
Chr7:75687321 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.758A>T (p.Tyr253Phe) single nucleotide variant Inborn genetic diseases [RCV002394148] Chr7:76064826 [GRCh38]
Chr7:75694144 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.305T>C (p.Val102Ala) single nucleotide variant Inborn genetic diseases [RCV002444205] Chr7:76057479 [GRCh38]
Chr7:75686797 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.755C>T (p.Ala252Val) single nucleotide variant Developmental and epileptic encephalopathy, 51 [RCV002468663]|Inborn genetic diseases [RCV002394010] Chr7:76064823 [GRCh38]
Chr7:75694141 [GRCh37]
Chr7:7q11.23
likely pathogenic|uncertain significance
NM_005918.4(MDH2):c.208C>T (p.His70Tyr) single nucleotide variant Inborn genetic diseases [RCV002424016] Chr7:76054971 [GRCh38]
Chr7:75684289 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.639C>T (p.Thr213=) single nucleotide variant Inborn genetic diseases [RCV002354115] Chr7:76064344 [GRCh38]
Chr7:75693662 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.930T>C (p.Ser310=) single nucleotide variant Inborn genetic diseases [RCV002371578] Chr7:76066323 [GRCh38]
Chr7:75695641 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.858C>T (p.Thr286=) single nucleotide variant Inborn genetic diseases [RCV002447916] Chr7:76064926 [GRCh38]
Chr7:75694244 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.18C>T (p.Ala6=) single nucleotide variant Inborn genetic diseases [RCV002408223]|not provided [RCV003312054] Chr7:76048178 [GRCh38]
Chr7:75677496 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.460G>C (p.Val154Leu) single nucleotide variant Inborn genetic diseases [RCV002342448]|not provided [RCV003094790] Chr7:76060403 [GRCh38]
Chr7:75689721 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.381C>T (p.Ala127=) single nucleotide variant Inborn genetic diseases [RCV002355310] Chr7:76058030 [GRCh38]
Chr7:75687348 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.144C>A (p.Pro48=) single nucleotide variant Inborn genetic diseases [RCV002394539]|not provided [RCV003095175] Chr7:76054907 [GRCh38]
Chr7:75684225 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.75T>C (p.Ala25=) single nucleotide variant Inborn genetic diseases [RCV002394248]|not provided [RCV003099696] Chr7:76054838 [GRCh38]
Chr7:75684156 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.222A>C (p.Lys74Asn) single nucleotide variant Inborn genetic diseases [RCV002428197] Chr7:76054985 [GRCh38]
Chr7:75684303 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.523G>A (p.Val175Ile) single nucleotide variant Inborn genetic diseases [RCV002344333]|not provided [RCV003096666] Chr7:76060466 [GRCh38]
Chr7:75689784 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.796A>C (p.Met266Leu) single nucleotide variant Inborn genetic diseases [RCV002412385] Chr7:76064864 [GRCh38]
Chr7:75694182 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.537C>G (p.Thr179=) single nucleotide variant Inborn genetic diseases [RCV002347102]|not provided [RCV003434470] Chr7:76060480 [GRCh38]
Chr7:75689798 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.967C>T (p.Leu323=) single nucleotide variant Inborn genetic diseases [RCV002376552] Chr7:76066360 [GRCh38]
Chr7:75695678 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.336C>T (p.Asp112=) single nucleotide variant Inborn genetic diseases [RCV002451714] Chr7:76057985 [GRCh38]
Chr7:75687303 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.383G>A (p.Cys128Tyr) single nucleotide variant Inborn genetic diseases [RCV002355438] Chr7:76058032 [GRCh38]
Chr7:75687350 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.43C>T (p.Arg15Cys) single nucleotide variant Inborn genetic diseases [RCV002333722] Chr7:76048203 [GRCh38]
Chr7:75677521 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.96C>G (p.Ala32=) single nucleotide variant Inborn genetic diseases [RCV002376638]|not provided [RCV003103603] Chr7:76054859 [GRCh38]
Chr7:75684177 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.696G>A (p.Glu232=) single nucleotide variant Inborn genetic diseases [RCV002362518] Chr7:76064401 [GRCh38]
Chr7:75693719 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.279T>C (p.Cys93=) single nucleotide variant Inborn genetic diseases [RCV002441522]|not provided [RCV003102232] Chr7:76057453 [GRCh38]
Chr7:75686771 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.822A>G (p.Glu274=) single nucleotide variant Inborn genetic diseases [RCV002412518] Chr7:76064890 [GRCh38]
Chr7:75694208 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.529G>A (p.Ala177Thr) single nucleotide variant Inborn genetic diseases [RCV002344563]|not provided [RCV003096685] Chr7:76060472 [GRCh38]
Chr7:75689790 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.52A>C (p.Ser18Arg) single nucleotide variant Inborn genetic diseases [RCV002344570] Chr7:76048212 [GRCh38]
Chr7:75677530 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.42C>T (p.Arg14=) single nucleotide variant Inborn genetic diseases [RCV002330299]|not provided [RCV003102565] Chr7:76048202 [GRCh38]
Chr7:75677520 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.56C>A (p.Thr19Asn) single nucleotide variant Inborn genetic diseases [RCV002347545] Chr7:76048216 [GRCh38]
Chr7:75677534 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.475G>A (p.Gly159Arg) single nucleotide variant Inborn genetic diseases [RCV002337664] Chr7:76060418 [GRCh38]
Chr7:75689736 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.440C>G (p.Thr147Ser) single nucleotide variant Inborn genetic diseases [RCV002333798]|not provided [RCV003094683] Chr7:76060383 [GRCh38]
Chr7:75689701 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.576C>T (p.Val192=) single nucleotide variant Inborn genetic diseases [RCV002359633]|not provided [RCV003096866] Chr7:76063535 [GRCh38]
Chr7:75692853 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.972G>A (p.Lys324=) single nucleotide variant Inborn genetic diseases [RCV002376726] Chr7:76066365 [GRCh38]
Chr7:75695683 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.172A>G (p.Ile58Val) single nucleotide variant Inborn genetic diseases [RCV002414862] Chr7:76054935 [GRCh38]
Chr7:75684253 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.297G>C (p.Pro99=) single nucleotide variant Inborn genetic diseases [RCV002442201] Chr7:76057471 [GRCh38]
Chr7:75686789 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.560T>C (p.Leu187Ser) single nucleotide variant Inborn genetic diseases [RCV002344958] Chr7:76063519 [GRCh38]
Chr7:75692837 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.141C>T (p.Ser47=) single nucleotide variant Inborn genetic diseases [RCV002391779] Chr7:76054904 [GRCh38]
Chr7:75684222 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.973G>C (p.Ala325Pro) single nucleotide variant Inborn genetic diseases [RCV002376750] Chr7:76066366 [GRCh38]
Chr7:75695684 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.444C>G (p.Ile148Met) single nucleotide variant Inborn genetic diseases [RCV002328322] Chr7:76060387 [GRCh38]
Chr7:75689705 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.705G>T (p.Thr235=) single nucleotide variant Inborn genetic diseases [RCV002365036] Chr7:76064410 [GRCh38]
Chr7:75693728 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.494A>G (p.Lys165Arg) single nucleotide variant Inborn genetic diseases [RCV002342709] Chr7:76060437 [GRCh38]
Chr7:75689755 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.60G>A (p.Ser20=) single nucleotide variant Inborn genetic diseases [RCV002360151]|not provided [RCV003098136] Chr7:76048220 [GRCh38]
Chr7:75677538 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.170A>G (p.Asp57Gly) single nucleotide variant Inborn genetic diseases [RCV002398854] Chr7:76054933 [GRCh38]
Chr7:75684251 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.900G>C (p.Glu300Asp) single nucleotide variant not provided [RCV002301287] Chr7:76066293 [GRCh38]
Chr7:75695611 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.1002G>A (p.Val334=) single nucleotide variant Inborn genetic diseases [RCV002391879]|not provided [RCV003095139] Chr7:76066395 [GRCh38]
Chr7:75695713 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.609G>C (p.Lys203Asn) single nucleotide variant Inborn genetic diseases [RCV002360120] Chr7:76063568 [GRCh38]
Chr7:75692886 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.880C>T (p.Leu294Phe) single nucleotide variant Inborn genetic diseases [RCV002373727] Chr7:76064948 [GRCh38]
Chr7:75694266 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.215A>C (p.Glu72Ala) single nucleotide variant Inborn genetic diseases [RCV002432560] Chr7:76054978 [GRCh38]
Chr7:75684296 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.726C>A (p.Ala242=) single nucleotide variant Inborn genetic diseases [RCV002382570] Chr7:76064431 [GRCh38]
Chr7:75693749 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.559T>C (p.Leu187=) single nucleotide variant Inborn genetic diseases [RCV002344867] Chr7:76063518 [GRCh38]
Chr7:75692836 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.86T>C (p.Val29Ala) single nucleotide variant Inborn genetic diseases [RCV002449720] Chr7:76054849 [GRCh38]
Chr7:75684167 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.853T>C (p.Cys285Arg) single nucleotide variant Inborn genetic diseases [RCV002414449] Chr7:76064921 [GRCh38]
Chr7:75694239 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.118C>G (p.Leu40Val) single nucleotide variant Inborn genetic diseases [RCV002342848] Chr7:76054881 [GRCh38]
Chr7:75684199 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.474T>C (p.His158=) single nucleotide variant Inborn genetic diseases [RCV002330623] Chr7:76060417 [GRCh38]
Chr7:75689735 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.765C>T (p.Gly255=) single nucleotide variant Inborn genetic diseases [RCV002396428] Chr7:76064833 [GRCh38]
Chr7:75694151 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.102A>T (p.Gly34=) single nucleotide variant Inborn genetic diseases [RCV002387963] Chr7:76054865 [GRCh38]
Chr7:75684183 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.993A>G (p.Glu331=) single nucleotide variant Inborn genetic diseases [RCV002382874] Chr7:76066386 [GRCh38]
Chr7:75695704 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.243C>A (p.Leu81=) single nucleotide variant Inborn genetic diseases [RCV002459995] Chr7:76057417 [GRCh38]
Chr7:75686735 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.877C>T (p.Leu293=) single nucleotide variant Inborn genetic diseases [RCV002449762]|not provided [RCV003100024] Chr7:76064945 [GRCh38]
Chr7:75694263 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.413G>A (p.Cys138Tyr) single nucleotide variant Inborn genetic diseases [RCV002333123] Chr7:76058062 [GRCh38]
Chr7:75687380 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.275G>C (p.Gly92Ala) single nucleotide variant Inborn genetic diseases [RCV002439478] Chr7:76057449 [GRCh38]
Chr7:75686767 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.583C>A (p.Pro195Thr) single nucleotide variant Inborn genetic diseases [RCV002353268] Chr7:76063542 [GRCh38]
Chr7:75692860 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.71A>T (p.Asn24Ile) single nucleotide variant Inborn genetic diseases [RCV002370836] Chr7:76054834 [GRCh38]
Chr7:75684152 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.213C>T (p.Ile71=) single nucleotide variant Inborn genetic diseases [RCV002430508] Chr7:76054976 [GRCh38]
Chr7:75684294 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.274G>A (p.Gly92Ser) single nucleotide variant Inborn genetic diseases [RCV002439346] Chr7:76057448 [GRCh38]
Chr7:75686766 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.778T>C (p.Phe260Leu) single nucleotide variant Inborn genetic diseases [RCV002409859] Chr7:76064846 [GRCh38]
Chr7:75694164 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.854G>A (p.Cys285Tyr) single nucleotide variant Inborn genetic diseases [RCV002414466] Chr7:76064922 [GRCh38]
Chr7:75694240 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.587T>A (p.Val196Asp) single nucleotide variant Inborn genetic diseases [RCV002353522] Chr7:76063546 [GRCh38]
Chr7:75692864 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.588C>T (p.Val196=) single nucleotide variant Inborn genetic diseases [RCV002353568] Chr7:76063547 [GRCh38]
Chr7:75692865 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.303A>G (p.Gly101=) single nucleotide variant Inborn genetic diseases [RCV002443968] Chr7:76057477 [GRCh38]
Chr7:75686795 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.182C>T (p.Thr61Ile) single nucleotide variant Inborn genetic diseases [RCV002410508] Chr7:76054945 [GRCh38]
Chr7:75684263 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.108C>G (p.Ile36Met) single nucleotide variant Inborn genetic diseases [RCV002443860] Chr7:76054871 [GRCh38]
Chr7:75684189 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.641C>G (p.Pro214Arg) single nucleotide variant Inborn genetic diseases [RCV002361664] Chr7:76064346 [GRCh38]
Chr7:75693664 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.9C>T (p.Ser3=) single nucleotide variant Inborn genetic diseases [RCV002383135] Chr7:76048169 [GRCh38]
Chr7:75677487 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.751A>G (p.Met251Val) single nucleotide variant Developmental and epileptic encephalopathy, 51 [RCV003777652]|Inborn genetic diseases [RCV002727839] Chr7:76064819 [GRCh38]
Chr7:75694137 [GRCh37]
Chr7:7q11.23
pathogenic|uncertain significance
NM_005918.4(MDH2):c.556-4C>G single nucleotide variant not provided [RCV002839103] Chr7:76063511 [GRCh38]
Chr7:75692829 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.30C>G (p.Ser10Arg) single nucleotide variant Inborn genetic diseases [RCV003170896]|not provided [RCV003017432] Chr7:76048190 [GRCh38]
Chr7:75677508 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.743C>T (p.Thr248Ile) single nucleotide variant not provided [RCV002842391] Chr7:76064811 [GRCh38]
Chr7:75694129 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.766G>A (p.Ala256Thr) single nucleotide variant not provided [RCV002913753] Chr7:76064834 [GRCh38]
Chr7:75694152 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.945G>C (p.Met315Ile) single nucleotide variant not provided [RCV002820744] Chr7:76066338 [GRCh38]
Chr7:75695656 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.280G>A (p.Asp94Asn) single nucleotide variant Inborn genetic diseases [RCV002738350] Chr7:76057454 [GRCh38]
Chr7:75686772 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.633+16_633+17delinsTT indel not provided [RCV003000138] Chr7:76063608..76063609 [GRCh38]
Chr7:75692926..75692927 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.350A>G (p.Asn117Ser) single nucleotide variant not provided [RCV002619264] Chr7:76057999 [GRCh38]
Chr7:75687317 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.236-13G>T single nucleotide variant not provided [RCV002694864] Chr7:76057397 [GRCh38]
Chr7:75686715 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.734-3del deletion Inborn genetic diseases [RCV002739185] Chr7:76064799 [GRCh38]
Chr7:75694117 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.725C>T (p.Ala242Val) single nucleotide variant Inborn genetic diseases [RCV002639811]|not provided [RCV002671143] Chr7:76064430 [GRCh38]
Chr7:75693748 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.502G>A (p.Gly168Ser) single nucleotide variant not provided [RCV002619869] Chr7:76060445 [GRCh38]
Chr7:75689763 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.628T>G (p.Ser210Ala) single nucleotide variant not provided [RCV002659624] Chr7:76063587 [GRCh38]
Chr7:75692905 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.657C>T (p.Pro219=) single nucleotide variant not provided [RCV002851900] Chr7:76064362 [GRCh38]
Chr7:75693680 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.102A>C (p.Gly34=) single nucleotide variant not provided [RCV003025716] Chr7:76054865 [GRCh38]
Chr7:75684183 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.941A>T (p.Lys314Met) single nucleotide variant not provided [RCV002958043] Chr7:76066334 [GRCh38]
Chr7:75695652 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.961C>G (p.Pro321Ala) single nucleotide variant Inborn genetic diseases [RCV003375701]|not provided [RCV002829818] Chr7:76066354 [GRCh38]
Chr7:75695672 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.235+7G>A single nucleotide variant not provided [RCV002741349] Chr7:76055005 [GRCh38]
Chr7:75684323 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.71A>G (p.Asn24Ser) single nucleotide variant not provided [RCV002928360] Chr7:76054834 [GRCh38]
Chr7:75684152 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.685C>T (p.Arg229Trp) single nucleotide variant not provided [RCV002625831] Chr7:76064390 [GRCh38]
Chr7:75693708 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.811G>T (p.Gly271Cys) single nucleotide variant Inborn genetic diseases [RCV003377845]|not provided [RCV003057785] Chr7:76064879 [GRCh38]
Chr7:75694197 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.450C>G (p.Ile150Met) single nucleotide variant not provided [RCV002700278] Chr7:76060393 [GRCh38]
Chr7:75689711 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.320-17T>C single nucleotide variant not provided [RCV002596605] Chr7:76057952 [GRCh38]
Chr7:75687270 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.479T>C (p.Val160Ala) single nucleotide variant not provided [RCV002765468] Chr7:76060422 [GRCh38]
Chr7:75689740 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.811G>A (p.Gly271Ser) single nucleotide variant Inborn genetic diseases [RCV002875280] Chr7:76064879 [GRCh38]
Chr7:75694197 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.429+18C>T single nucleotide variant not provided [RCV002598157] Chr7:76058096 [GRCh38]
Chr7:75687414 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.782C>A (p.Ser261Tyr) single nucleotide variant not provided [RCV002807222] Chr7:76064850 [GRCh38]
Chr7:75694168 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.282T>A (p.Asp94Glu) single nucleotide variant not provided [RCV002676638] Chr7:76057456 [GRCh38]
Chr7:75686774 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.129_131del (p.Leu44del) deletion not provided [RCV002600445] Chr7:76054890..76054892 [GRCh38]
Chr7:75684208..75684210 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.262G>A (p.Asp88Asn) single nucleotide variant not provided [RCV002577918] Chr7:76057436 [GRCh38]
Chr7:75686754 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.320-9C>T single nucleotide variant not provided [RCV002898888] Chr7:76057960 [GRCh38]
Chr7:75687278 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.734-20A>G single nucleotide variant not provided [RCV002716985] Chr7:76064782 [GRCh38]
Chr7:75694100 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.66G>C (p.Gln22His) single nucleotide variant not provided [RCV003045799] Chr7:76048226 [GRCh38]
Chr7:75677544 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.734-9C>T single nucleotide variant not provided [RCV002598982] Chr7:76064793 [GRCh38]
Chr7:75694111 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.1005G>C (p.Lys335Asn) single nucleotide variant Inborn genetic diseases [RCV002579308]|not provided [RCV002579307] Chr7:76066398 [GRCh38]
Chr7:75695716 [GRCh37]
Chr7:7q11.23
benign|uncertain significance
NM_005918.4(MDH2):c.556-1G>C single nucleotide variant Inborn genetic diseases [RCV002717880] Chr7:76063514 [GRCh38]
Chr7:75692832 [GRCh37]
Chr7:7q11.23
likely pathogenic
NM_005918.4(MDH2):c.633+5dup duplication not provided [RCV003029004] Chr7:76063596..76063597 [GRCh38]
Chr7:75692914..75692915 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.320-15T>C single nucleotide variant not provided [RCV002807203] Chr7:76057954 [GRCh38]
Chr7:75687272 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.555+11C>T single nucleotide variant not provided [RCV002604825] Chr7:76060509 [GRCh38]
Chr7:75689827 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.154C>T (p.Arg52Cys) single nucleotide variant not provided [RCV002721308] Chr7:76054917 [GRCh38]
Chr7:75684235 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.634-5T>C single nucleotide variant not provided [RCV002582746] Chr7:76064334 [GRCh38]
Chr7:75693652 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.566del (p.Pro189fs) deletion Inborn genetic diseases [RCV002723027] Chr7:76063524 [GRCh38]
Chr7:75692842 [GRCh37]
Chr7:7q11.23
pathogenic
NM_005918.4(MDH2):c.62C>T (p.Ala21Val) single nucleotide variant Inborn genetic diseases [RCV003167510]|not provided [RCV002609640] Chr7:76048222 [GRCh38]
Chr7:75677540 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.235+9C>T single nucleotide variant not provided [RCV003068065] Chr7:76055007 [GRCh38]
Chr7:75684325 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.937G>C (p.Glu313Gln) single nucleotide variant not provided [RCV003050189] Chr7:76066330 [GRCh38]
Chr7:75695648 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.848C>T (p.Thr283Met) single nucleotide variant not provided [RCV002588437] Chr7:76064916 [GRCh38]
Chr7:75694234 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.634-12C>T single nucleotide variant not provided [RCV002589111] Chr7:76064327 [GRCh38]
Chr7:75693645 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.66+3A>C single nucleotide variant not provided [RCV003066190] Chr7:76048229 [GRCh38]
Chr7:75677547 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.704C>G (p.Thr235Arg) single nucleotide variant Developmental and epileptic encephalopathy, 51 [RCV003132616] Chr7:76064409 [GRCh38]
Chr7:75693727 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.817G>A (p.Val273Met) single nucleotide variant Developmental and epileptic encephalopathy, 51 [RCV003131566] Chr7:76064885 [GRCh38]
Chr7:75694203 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.184C>A (p.Pro62Thr) single nucleotide variant Inborn genetic diseases [RCV003296820] Chr7:76054947 [GRCh38]
Chr7:75684265 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.609G>A (p.Lys203=) single nucleotide variant Inborn genetic diseases [RCV003185879] Chr7:76063568 [GRCh38]
Chr7:75692886 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.989G>T (p.Gly330Val) single nucleotide variant Inborn genetic diseases [RCV003168045] Chr7:76066382 [GRCh38]
Chr7:75695700 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.797T>C (p.Met266Thr) single nucleotide variant Inborn genetic diseases [RCV003168046] Chr7:76064865 [GRCh38]
Chr7:75694183 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.709G>A (p.Val237Met) single nucleotide variant Inborn genetic diseases [RCV003168047] Chr7:76064414 [GRCh38]
Chr7:75693732 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.910G>A (p.Gly304Ser) single nucleotide variant Inborn genetic diseases [RCV003168048] Chr7:76066303 [GRCh38]
Chr7:75695621 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.162C>T (p.Thr54=) single nucleotide variant Inborn genetic diseases [RCV003168049] Chr7:76054925 [GRCh38]
Chr7:75684243 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.186C>G (p.Pro62=) single nucleotide variant Inborn genetic diseases [RCV003216395] Chr7:76054949 [GRCh38]
Chr7:75684267 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.376G>T (p.Ala126Ser) single nucleotide variant Inborn genetic diseases [RCV003216396] Chr7:76058025 [GRCh38]
Chr7:75687343 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.180C>T (p.His60=) single nucleotide variant Inborn genetic diseases [RCV003216397] Chr7:76054943 [GRCh38]
Chr7:75684261 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.88C>G (p.Leu30Val) single nucleotide variant Inborn genetic diseases [RCV003202245] Chr7:76054851 [GRCh38]
Chr7:75684169 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.498C>T (p.Ile166=) single nucleotide variant Inborn genetic diseases [RCV003168050] Chr7:76060441 [GRCh38]
Chr7:75689759 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.995A>G (p.Asp332Gly) single nucleotide variant Inborn genetic diseases [RCV003180927] Chr7:76066388 [GRCh38]
Chr7:75695706 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.975C>G (p.Ala325=) single nucleotide variant Inborn genetic diseases [RCV003168052] Chr7:76066368 [GRCh38]
Chr7:75695686 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.903G>T (p.Lys301Asn) single nucleotide variant Inborn genetic diseases [RCV003168054] Chr7:76066296 [GRCh38]
Chr7:75695614 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.265T>G (p.Cys89Gly) single nucleotide variant Inborn genetic diseases [RCV003176652] Chr7:76057439 [GRCh38]
Chr7:75686757 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.93G>A (p.Gly31=) single nucleotide variant Inborn genetic diseases [RCV003176653] Chr7:76054856 [GRCh38]
Chr7:75684174 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.497T>C (p.Ile166Thr) single nucleotide variant Inborn genetic diseases [RCV003176654] Chr7:76060440 [GRCh38]
Chr7:75689758 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.613A>G (p.Ile205Val) single nucleotide variant Inborn genetic diseases [RCV003176655] Chr7:76063572 [GRCh38]
Chr7:75692890 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.960C>T (p.Ile320=) single nucleotide variant Inborn genetic diseases [RCV003176656] Chr7:76066353 [GRCh38]
Chr7:75695671 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.221A>C (p.Lys74Thr) single nucleotide variant Inborn genetic diseases [RCV003176657] Chr7:76054984 [GRCh38]
Chr7:75684302 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.361G>A (p.Val121Met) single nucleotide variant Inborn genetic diseases [RCV003176658] Chr7:76058010 [GRCh38]
Chr7:75687328 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.167A>G (p.Tyr56Cys) single nucleotide variant Inborn genetic diseases [RCV003207521] Chr7:76054930 [GRCh38]
Chr7:75684248 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.909G>A (p.Leu303=) single nucleotide variant Inborn genetic diseases [RCV003207606] Chr7:76066302 [GRCh38]
Chr7:75695620 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.671C>A (p.Thr224Lys) single nucleotide variant Inborn genetic diseases [RCV003168053] Chr7:76064376 [GRCh38]
Chr7:75693694 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.743C>G (p.Thr248Ser) single nucleotide variant Inborn genetic diseases [RCV003168055] Chr7:76064811 [GRCh38]
Chr7:75694129 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.684G>A (p.Gly228=) single nucleotide variant Inborn genetic diseases [RCV003168056] Chr7:76064389 [GRCh38]
Chr7:75693707 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.677T>A (p.Leu226His) single nucleotide variant Inborn genetic diseases [RCV003168057] Chr7:76064382 [GRCh38]
Chr7:75693700 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.347C>T (p.Thr116Ile) single nucleotide variant Inborn genetic diseases [RCV003216398] Chr7:76057996 [GRCh38]
Chr7:75687314 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.334G>T (p.Asp112Tyr) single nucleotide variant Inborn genetic diseases [RCV003216399] Chr7:76057983 [GRCh38]
Chr7:75687301 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.763G>C (p.Gly255Arg) single nucleotide variant Inborn genetic diseases [RCV003216400] Chr7:76064831 [GRCh38]
Chr7:75694149 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.890A>T (p.Lys297Met) single nucleotide variant Inborn genetic diseases [RCV003207484] Chr7:76066283 [GRCh38]
Chr7:75695601 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.313A>G (p.Lys105Glu) single nucleotide variant Inborn genetic diseases [RCV003207562] Chr7:76057487 [GRCh38]
Chr7:75686805 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.206G>A (p.Ser69Asn) single nucleotide variant Inborn genetic diseases [RCV003305407] Chr7:76054969 [GRCh38]
Chr7:75684287 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.284T>C (p.Val95Ala) single nucleotide variant Inborn genetic diseases [RCV003305408] Chr7:76057458 [GRCh38]
Chr7:75686776 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.186C>A (p.Pro62=) single nucleotide variant Inborn genetic diseases [RCV003305409] Chr7:76054949 [GRCh38]
Chr7:75684267 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.146T>C (p.Leu49Ser) single nucleotide variant Inborn genetic diseases [RCV003305410]|not provided [RCV003708761] Chr7:76054909 [GRCh38]
Chr7:75684227 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.169G>A (p.Asp57Asn) single nucleotide variant Inborn genetic diseases [RCV003305411] Chr7:76054932 [GRCh38]
Chr7:75684250 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.320G>T (p.Gly107Val) single nucleotide variant Inborn genetic diseases [RCV003305412] Chr7:76057969 [GRCh38]
Chr7:75687287 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.471G>C (p.Lys157Asn) single nucleotide variant Inborn genetic diseases [RCV003305413] Chr7:76060414 [GRCh38]
Chr7:75689732 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.536C>T (p.Thr179Ile) single nucleotide variant Inborn genetic diseases [RCV003305414] Chr7:76060479 [GRCh38]
Chr7:75689797 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.689T>C (p.Ile230Thr) single nucleotide variant not provided [RCV003325923] Chr7:76064394 [GRCh38]
Chr7:75693712 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.10G>A (p.Ala4Thr) single nucleotide variant Inborn genetic diseases [RCV003379947] Chr7:76048170 [GRCh38]
Chr7:75677488 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.20G>C (p.Arg7Pro) single nucleotide variant Inborn genetic diseases [RCV003379391] Chr7:76048180 [GRCh38]
Chr7:75677498 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.74C>A (p.Ala25Asp) single nucleotide variant Inborn genetic diseases [RCV003379943] Chr7:76054837 [GRCh38]
Chr7:75684155 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.43C>A (p.Arg15Ser) single nucleotide variant Inborn genetic diseases [RCV003379944] Chr7:76048203 [GRCh38]
Chr7:75677521 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.681T>C (p.Thr227=) single nucleotide variant Inborn genetic diseases [RCV003379945] Chr7:76064386 [GRCh38]
Chr7:75693704 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.978C>T (p.Ser326=) single nucleotide variant Inborn genetic diseases [RCV003379946] Chr7:76066371 [GRCh38]
Chr7:75695689 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.232A>G (p.Lys78Glu) single nucleotide variant Inborn genetic diseases [RCV003379434] Chr7:76054995 [GRCh38]
Chr7:75684313 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.296C>A (p.Pro99Gln) single nucleotide variant Inborn genetic diseases [RCV003379948] Chr7:76057470 [GRCh38]
Chr7:75686788 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.791A>T (p.Asp264Val) single nucleotide variant Inborn genetic diseases [RCV003379949] Chr7:76064859 [GRCh38]
Chr7:75694177 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.55A>C (p.Thr19Pro) single nucleotide variant Inborn genetic diseases [RCV003349971] Chr7:76048215 [GRCh38]
Chr7:75677533 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.484A>G (p.Asn162Asp) single nucleotide variant Inborn genetic diseases [RCV003349924] Chr7:76060427 [GRCh38]
Chr7:75689745 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.66+17G>T single nucleotide variant not provided [RCV003570180] Chr7:76048243 [GRCh38]
Chr7:75677561 [GRCh37]
Chr7:7q11.23
likely benign
GRCh37/hg19 7q11.23(chr7:75646830-75696931)x1 copy number loss not provided [RCV003482966] Chr7:75646830..75696931 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.672A>C (p.Thr224=) single nucleotide variant not provided [RCV003568955] Chr7:76064377 [GRCh38]
Chr7:75693695 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.321C>T (p.Gly107=) single nucleotide variant not provided [RCV003578901] Chr7:76057970 [GRCh38]
Chr7:75687288 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.885+15G>A single nucleotide variant not provided [RCV003660338] Chr7:76064968 [GRCh38]
Chr7:75694286 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.127C>T (p.Leu43Phe) single nucleotide variant not specified [RCV003494311] Chr7:76054890 [GRCh38]
Chr7:75684208 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.78A>G (p.Lys26=) single nucleotide variant not provided [RCV003578102] Chr7:76054841 [GRCh38]
Chr7:75684159 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.319+20G>A single nucleotide variant not provided [RCV003690128] Chr7:76057513 [GRCh38]
Chr7:75686831 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.255G>A (p.Gln85=) single nucleotide variant not provided [RCV003572540] Chr7:76057429 [GRCh38]
Chr7:75686747 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.734-4dup duplication not provided [RCV003713333] Chr7:76064792..76064793 [GRCh38]
Chr7:75694110..75694111 [GRCh37]
Chr7:7q11.23
benign
NM_005918.4(MDH2):c.734-19C>T single nucleotide variant not provided [RCV003666158] Chr7:76064783 [GRCh38]
Chr7:75694101 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.236-17_236-15del deletion not provided [RCV003692554] Chr7:76057392..76057394 [GRCh38]
Chr7:75686710..75686712 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.734-4C>T single nucleotide variant not provided [RCV003833866] Chr7:76064798 [GRCh38]
Chr7:75694116 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.489del (p.Asn164fs) deletion not provided [RCV003698292] Chr7:76060429 [GRCh38]
Chr7:75689747 [GRCh37]
Chr7:7q11.23
pathogenic
NM_005918.4(MDH2):c.744C>T (p.Thr248=) single nucleotide variant not provided [RCV003672531] Chr7:76064812 [GRCh38]
Chr7:75694130 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.886-20C>T single nucleotide variant not provided [RCV003703153] Chr7:76066259 [GRCh38]
Chr7:75695577 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.886-19A>G single nucleotide variant not provided [RCV003670007] Chr7:76066260 [GRCh38]
Chr7:75695578 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.556-4C>A single nucleotide variant not provided [RCV003837403] Chr7:76063511 [GRCh38]
Chr7:75692829 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.543del (p.Ala182fs) deletion not provided [RCV003697281] Chr7:76060485 [GRCh38]
Chr7:75689803 [GRCh37]
Chr7:7q11.23
pathogenic
NM_005918.4(MDH2):c.555+12G>A single nucleotide variant not provided [RCV003834357] Chr7:76060510 [GRCh38]
Chr7:75689828 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.633+11A>T single nucleotide variant not provided [RCV003708899] Chr7:76063603 [GRCh38]
Chr7:75692921 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.886-11A>G single nucleotide variant not provided [RCV003706412] Chr7:76066268 [GRCh38]
Chr7:75695586 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.236-13G>A single nucleotide variant not provided [RCV003868328] Chr7:76057397 [GRCh38]
Chr7:75686715 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.733+19C>T single nucleotide variant not provided [RCV003685725] Chr7:76064457 [GRCh38]
Chr7:75693775 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.236-14G>C single nucleotide variant not provided [RCV003685776] Chr7:76057396 [GRCh38]
Chr7:75686714 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.327C>T (p.Thr109=) single nucleotide variant not provided [RCV003568495] Chr7:76057976 [GRCh38]
Chr7:75687294 [GRCh37]
Chr7:7q11.23
likely benign
GRCh37/hg19 7q11.23(chr7:72732819-76003862)x3 copy number gain not specified [RCV003986700] Chr7:72732819..76003862 [GRCh37]
Chr7:7q11.23
pathogenic
NM_005918.4(MDH2):c.577A>G (p.Asn193Asp) single nucleotide variant not provided [RCV003710276] Chr7:76063536 [GRCh38]
Chr7:75692854 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.447C>T (p.Pro149=) single nucleotide variant not provided [RCV003568768] Chr7:76060390 [GRCh38]
Chr7:75689708 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.734-3T>C single nucleotide variant not provided [RCV003675673] Chr7:76064799 [GRCh38]
Chr7:75694117 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.66+19G>C single nucleotide variant not provided [RCV003865564] Chr7:76048245 [GRCh38]
Chr7:75677563 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.886-16T>C single nucleotide variant not provided [RCV003844379] Chr7:76066263 [GRCh38]
Chr7:75695581 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.235+12G>A single nucleotide variant not provided [RCV003846530] Chr7:76055010 [GRCh38]
Chr7:75684328 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.476G>A (p.Gly159Glu) single nucleotide variant Inborn genetic diseases [RCV004421455] Chr7:76060419 [GRCh38]
Chr7:75689737 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.645G>A (p.Lys215=) single nucleotide variant Inborn genetic diseases [RCV004369743]|MDH2-related disorder [RCV003899535] Chr7:76064350 [GRCh38]
Chr7:75693668 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.862T>C (p.Phe288Leu) single nucleotide variant Inborn genetic diseases [RCV004523866] Chr7:76064930 [GRCh38]
Chr7:75694248 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.872C>A (p.Pro291Gln) single nucleotide variant Inborn genetic diseases [RCV004523867] Chr7:76064940 [GRCh38]
Chr7:75694258 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.873G>T (p.Pro291=) single nucleotide variant Inborn genetic diseases [RCV004523868] Chr7:76064941 [GRCh38]
Chr7:75694259 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.884G>C (p.Gly295Ala) single nucleotide variant Inborn genetic diseases [RCV004523869] Chr7:76064952 [GRCh38]
Chr7:75694270 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.916G>C (p.Gly306Arg) single nucleotide variant Inborn genetic diseases [RCV004523870] Chr7:76066309 [GRCh38]
Chr7:75695627 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.916G>T (p.Gly306Cys) single nucleotide variant Inborn genetic diseases [RCV004523871] Chr7:76066309 [GRCh38]
Chr7:75695627 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.94G>T (p.Ala32Ser) single nucleotide variant Inborn genetic diseases [RCV004523872] Chr7:76054857 [GRCh38]
Chr7:75684175 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.969G>A (p.Leu323=) single nucleotide variant Inborn genetic diseases [RCV004523873] Chr7:76066362 [GRCh38]
Chr7:75695680 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.970A>G (p.Lys324Glu) single nucleotide variant Inborn genetic diseases [RCV004523874] Chr7:76066363 [GRCh38]
Chr7:75695681 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.1007C>G (p.Thr336Ser) single nucleotide variant Inborn genetic diseases [RCV004523823] Chr7:76066400 [GRCh38]
Chr7:75695718 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.108C>A (p.Ile36=) single nucleotide variant Inborn genetic diseases [RCV004523824] Chr7:76054871 [GRCh38]
Chr7:75684189 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.111G>A (p.Gly37=) single nucleotide variant Inborn genetic diseases [RCV004523825] Chr7:76054874 [GRCh38]
Chr7:75684192 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.13C>G (p.Leu5Val) single nucleotide variant Inborn genetic diseases [RCV004523826] Chr7:76048173 [GRCh38]
Chr7:75677491 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.144C>T (p.Pro48=) single nucleotide variant Inborn genetic diseases [RCV004523827] Chr7:76054907 [GRCh38]
Chr7:75684225 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.152G>A (p.Ser51Asn) single nucleotide variant Inborn genetic diseases [RCV004523828] Chr7:76054915 [GRCh38]
Chr7:75684233 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.164T>C (p.Leu55Pro) single nucleotide variant Inborn genetic diseases [RCV004523829] Chr7:76054927 [GRCh38]
Chr7:75684245 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.173T>C (p.Ile58Thr) single nucleotide variant Inborn genetic diseases [RCV004523830] Chr7:76054936 [GRCh38]
Chr7:75684254 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.204G>A (p.Leu68=) single nucleotide variant Inborn genetic diseases [RCV004523831] Chr7:76054967 [GRCh38]
Chr7:75684285 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.213C>G (p.Ile71Met) single nucleotide variant Inborn genetic diseases [RCV004523832] Chr7:76054976 [GRCh38]
Chr7:75684294 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.240C>T (p.Tyr80=) single nucleotide variant Inborn genetic diseases [RCV004523833] Chr7:76057414 [GRCh38]
Chr7:75686732 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.284T>G (p.Val95Gly) single nucleotide variant Inborn genetic diseases [RCV004523834] Chr7:76057458 [GRCh38]
Chr7:75686776 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.298G>C (p.Ala100Pro) single nucleotide variant Inborn genetic diseases [RCV004523835] Chr7:76057472 [GRCh38]
Chr7:75686790 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.385G>C (p.Ala129Pro) single nucleotide variant Inborn genetic diseases [RCV004523836] Chr7:76058034 [GRCh38]
Chr7:75687352 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.411C>A (p.Ile137=) single nucleotide variant Inborn genetic diseases [RCV004523837] Chr7:76058060 [GRCh38]
Chr7:75687378 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.426T>C (p.Asn142=) single nucleotide variant Inborn genetic diseases [RCV004523838] Chr7:76058075 [GRCh38]
Chr7:75687393 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.426T>G (p.Asn142Lys) single nucleotide variant Inborn genetic diseases [RCV004523839] Chr7:76058075 [GRCh38]
Chr7:75687393 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.434A>G (p.Asn145Ser) single nucleotide variant Inborn genetic diseases [RCV004523840] Chr7:76060377 [GRCh38]
Chr7:75689695 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.440C>T (p.Thr147Ile) single nucleotide variant Inborn genetic diseases [RCV004523841] Chr7:76060383 [GRCh38]
Chr7:75689701 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.456A>G (p.Ala152=) single nucleotide variant Inborn genetic diseases [RCV004523842] Chr7:76060399 [GRCh38]
Chr7:75689717 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.459A>T (p.Glu153Asp) single nucleotide variant Inborn genetic diseases [RCV004523843] Chr7:76060402 [GRCh38]
Chr7:75689720 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.499T>C (p.Phe167Leu) single nucleotide variant Inborn genetic diseases [RCV004523844] Chr7:76060442 [GRCh38]
Chr7:75689760 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.506T>C (p.Val169Ala) single nucleotide variant Inborn genetic diseases [RCV004523845] Chr7:76060449 [GRCh38]
Chr7:75689767 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.553A>C (p.Lys185Gln) single nucleotide variant Inborn genetic diseases [RCV004523846] Chr7:76060496 [GRCh38]
Chr7:75689814 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.564T>C (p.Asp188=) single nucleotide variant Inborn genetic diseases [RCV004523847] Chr7:76063523 [GRCh38]
Chr7:75692841 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.589A>G (p.Ile197Val) single nucleotide variant Inborn genetic diseases [RCV004523849] Chr7:76063548 [GRCh38]
Chr7:75692866 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.601G>A (p.Ala201Thr) single nucleotide variant Inborn genetic diseases [RCV004523850] Chr7:76063560 [GRCh38]
Chr7:75692878 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.612C>T (p.Thr204=) single nucleotide variant Inborn genetic diseases [RCV004523851] Chr7:76063571 [GRCh38]
Chr7:75692889 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.616A>G (p.Ile206Val) single nucleotide variant Inborn genetic diseases [RCV004523852] Chr7:76063575 [GRCh38]
Chr7:75692893 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.638C>T (p.Thr213Ile) single nucleotide variant Inborn genetic diseases [RCV004523853] Chr7:76064343 [GRCh38]
Chr7:75693661 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.665A>G (p.Gln222Arg) single nucleotide variant Inborn genetic diseases [RCV004523854] Chr7:76064370 [GRCh38]
Chr7:75693688 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.690C>T (p.Ile230=) single nucleotide variant Inborn genetic diseases [RCV004523855] Chr7:76064395 [GRCh38]
Chr7:75693713 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.6C>T (p.Leu2=) single nucleotide variant Inborn genetic diseases [RCV004523856] Chr7:76048166 [GRCh38]
Chr7:75677484 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.710T>C (p.Val237Ala) single nucleotide variant Inborn genetic diseases [RCV004523857] Chr7:76064415 [GRCh38]
Chr7:75693733 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.716A>G (p.Lys239Arg) single nucleotide variant Inborn genetic diseases [RCV004523858] Chr7:76064421 [GRCh38]
Chr7:75693739 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.720T>C (p.Ala240=) single nucleotide variant Inborn genetic diseases [RCV004523859] Chr7:76064425 [GRCh38]
Chr7:75693743 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.749C>T (p.Ser250Phe) single nucleotide variant Inborn genetic diseases [RCV004523860] Chr7:76064817 [GRCh38]
Chr7:75694135 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.76A>G (p.Lys26Glu) single nucleotide variant Inborn genetic diseases [RCV004523861] Chr7:76054839 [GRCh38]
Chr7:75684157 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.812G>A (p.Gly271Asp) single nucleotide variant Inborn genetic diseases [RCV004523862] Chr7:76064880 [GRCh38]
Chr7:75694198 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.837G>A (p.Lys279=) single nucleotide variant Inborn genetic diseases [RCV004523863] Chr7:76064905 [GRCh38]
Chr7:75694223 [GRCh37]
Chr7:7q11.23
likely benign
NM_005918.4(MDH2):c.850G>C (p.Glu284Gln) single nucleotide variant Inborn genetic diseases [RCV004523864] Chr7:76064918 [GRCh38]
Chr7:75694236 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.862T>A (p.Phe288Ile) single nucleotide variant Inborn genetic diseases [RCV004523865] Chr7:76064930 [GRCh38]
Chr7:75694248 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.331G>A (p.Asp111Asn) single nucleotide variant Inborn genetic diseases [RCV003379423] Chr7:76057980 [GRCh38]
Chr7:75687298 [GRCh37]
Chr7:7q11.23
uncertain significance
NM_005918.4(MDH2):c.596G>A (p.Gly199Asp) single nucleotide variant Inborn genetic diseases [RCV003379402] Chr7:76063555 [GRCh38]
Chr7:75692873 [GRCh37]
Chr7:7q11.23
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2585
Count of miRNA genes:841
Interacting mature miRNAs:996
Transcripts:ENST00000315758, ENST00000424167, ENST00000432020, ENST00000443006, ENST00000461263, ENST00000461665, ENST00000490105, ENST00000492663
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.

Markers in Region
GDB:4584955  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37775,679,653 - 75,679,719UniSTSGRCh37
Build 36775,517,589 - 75,517,655RGDNCBI36
Celera770,548,184 - 70,548,250RGD
Cytogenetic Map7cen-q22UniSTS
HuRef770,766,214 - 70,766,280UniSTS
CRA_TCAGchr7v2775,012,717 - 75,012,783UniSTS
RH78279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37775,696,545 - 75,696,680UniSTSGRCh37
Build 36775,534,481 - 75,534,616RGDNCBI36
Celera770,565,066 - 70,565,201RGD
Cytogenetic Map7cen-q22UniSTS
HuRef770,783,097 - 70,783,232UniSTS
CRA_TCAGchr7v2775,029,609 - 75,029,744UniSTS
GeneMap99-GB4 RH Map7426.18UniSTS
SHGC-81711  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37775,682,487 - 75,682,763UniSTSGRCh37
Build 36775,520,423 - 75,520,699RGDNCBI36
Celera770,551,010 - 70,551,286RGD
Cytogenetic Map7cen-q22UniSTS
HuRef770,769,040 - 70,769,316UniSTS
CRA_TCAGchr7v2775,015,551 - 75,015,827UniSTS
RH12763  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37775,695,719 - 75,695,875UniSTSGRCh37
Build 36775,533,655 - 75,533,811RGDNCBI36
Celera770,564,240 - 70,564,396RGD
Cytogenetic Map7cen-q22UniSTS
HuRef770,782,271 - 70,782,427UniSTS
CRA_TCAGchr7v2775,028,783 - 75,028,939UniSTS
GeneMap99-GB4 RH Map7426.18UniSTS
D7S553E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37775,696,510 - 75,696,591UniSTSGRCh37
Build 36775,534,446 - 75,534,527RGDNCBI36
Celera770,565,031 - 70,565,112RGD
Cytogenetic Map7cen-q22UniSTS
HuRef770,783,062 - 70,783,143UniSTS
CRA_TCAGchr7v2775,029,574 - 75,029,655UniSTS
GeneMap99-GB4 RH Map7426.95UniSTS
SHGC-56100  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37775,696,677 - 75,696,809UniSTSGRCh37
Build 36775,534,613 - 75,534,745RGDNCBI36
Celera770,565,198 - 70,565,330RGD
Cytogenetic Map7cen-q22UniSTS
HuRef770,783,229 - 70,783,361UniSTS
CRA_TCAGchr7v2775,029,741 - 75,029,873UniSTS
GeneMap99-GB4 RH Map7426.18UniSTS
Whitehead-RH Map7405.3UniSTS
G19751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37775,696,506 - 75,696,612UniSTSGRCh37
Build 36775,534,442 - 75,534,548RGDNCBI36
Celera770,565,027 - 70,565,133RGD
Cytogenetic Map7cen-q22UniSTS
HuRef770,783,058 - 70,783,164UniSTS
CRA_TCAGchr7v2775,029,570 - 75,029,676UniSTS
A001X26  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37775,696,506 - 75,696,612UniSTSGRCh37
Build 36775,534,442 - 75,534,548RGDNCBI36
Celera770,565,027 - 70,565,133RGD
Cytogenetic Map7cen-q22UniSTS
HuRef770,783,058 - 70,783,164UniSTS
CRA_TCAGchr7v2775,029,570 - 75,029,676UniSTS
GeneMap99-GB4 RH Map7425.77UniSTS
D7S2059E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37775,695,698 - 75,695,793UniSTSGRCh37
Build 36775,533,634 - 75,533,729RGDNCBI36
Celera770,564,219 - 70,564,314RGD
Cytogenetic Map7cen-q22UniSTS
HuRef770,782,250 - 70,782,345UniSTS
CRA_TCAGchr7v2775,028,762 - 75,028,857UniSTS
Stanford-G3 RH Map73531.0UniSTS
NCBI RH Map7913.0UniSTS
GeneMap99-G3 RH Map73531.0UniSTS
A002I38  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37775,695,745 - 75,695,844UniSTSGRCh37
Build 36775,533,681 - 75,533,780RGDNCBI36
Celera770,564,266 - 70,564,365RGD
Cytogenetic Map7cen-q22UniSTS
HuRef770,782,297 - 70,782,396UniSTS
CRA_TCAGchr7v2775,028,809 - 75,028,908UniSTS
GeneMap99-GB4 RH Map7427.71UniSTS
Whitehead-RH Map7402.9UniSTS
NCBI RH Map7886.7UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 14
Medium 2439 2953 1725 624 1926 465 4357 2182 3710 416 1446 1612 175 1 1204 2788 6 2
Low 38 1 25 15 24 3 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA214555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF047470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI793009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM463639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP382246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR536548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC354622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ402957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000315758   ⟹   ENSP00000327070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl776,048,106 - 76,067,508 (+)Ensembl
RefSeq Acc Id: ENST00000424167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl776,060,368 - 76,065,173 (+)Ensembl
RefSeq Acc Id: ENST00000432020   ⟹   ENSP00000408649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl776,048,161 - 76,067,067 (+)Ensembl
RefSeq Acc Id: ENST00000443006   ⟹   ENSP00000416929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl776,048,085 - 76,067,506 (+)Ensembl
RefSeq Acc Id: ENST00000461263   ⟹   ENSP00000475583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl776,048,051 - 76,049,047 (+)Ensembl
RefSeq Acc Id: ENST00000461665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl776,048,136 - 76,058,175 (+)Ensembl
RefSeq Acc Id: ENST00000490105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl776,048,161 - 76,057,447 (+)Ensembl
RefSeq Acc Id: ENST00000492663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl776,054,504 - 76,057,460 (+)Ensembl
RefSeq Acc Id: NM_001282403   ⟹   NP_001269332
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38776,048,106 - 76,067,508 (+)NCBI
HuRef770,763,902 - 70,783,378 (+)NCBI
CHM1_1775,607,324 - 75,626,796 (+)NCBI
T2T-CHM13v2.0777,335,642 - 77,355,027 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282404   ⟹   NP_001269333
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38776,048,106 - 76,067,508 (+)NCBI
HuRef770,763,902 - 70,783,378 (+)NCBI
CHM1_1775,607,324 - 75,626,796 (+)NCBI
T2T-CHM13v2.0777,335,642 - 77,355,027 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005918   ⟹   NP_005909
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38776,048,106 - 76,067,508 (+)NCBI
GRCh37775,677,182 - 75,696,826 (+)NCBI
Build 36775,515,329 - 75,533,867 (+)NCBI Archive
HuRef770,763,902 - 70,783,378 (+)NCBI
CHM1_1775,607,324 - 75,626,796 (+)NCBI
T2T-CHM13v2.0777,335,642 - 77,355,027 (+)NCBI
CRA_TCAGchr7v2775,010,457 - 75,028,995 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NR_104165
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38776,048,106 - 76,049,047 (+)NCBI
HuRef770,763,902 - 70,783,378 (+)NCBI
CHM1_1775,607,324 - 75,608,345 (+)NCBI
T2T-CHM13v2.0777,335,642 - 77,336,576 (+)NCBI
Sequence:
RefSeq Acc Id: NP_005909   ⟸   NM_005918
- Peptide Label: isoform 1 precursor
- UniProtKB: E9PDB2 (UniProtKB/Swiss-Prot),   B4DE44 (UniProtKB/Swiss-Prot),   B2RE78 (UniProtKB/Swiss-Prot),   A8K414 (UniProtKB/Swiss-Prot),   O43682 (UniProtKB/Swiss-Prot),   P40926 (UniProtKB/Swiss-Prot),   A0A024R4K3 (UniProtKB/TrEMBL),   Q6FHZ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269332   ⟸   NM_001282403
- Peptide Label: isoform 2 precursor
- UniProtKB: Q6FHZ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269333   ⟸   NM_001282404
- Peptide Label: isoform 3
- UniProtKB: B3KTM1 (UniProtKB/TrEMBL),   G3XAL0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000416929   ⟸   ENST00000443006
RefSeq Acc Id: ENSP00000408649   ⟸   ENST00000432020
RefSeq Acc Id: ENSP00000327070   ⟸   ENST00000315758
RefSeq Acc Id: ENSP00000475583   ⟸   ENST00000461263
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P40926-F1-model_v2 AlphaFold P40926 1-338 view protein structure

Promoters
RGD ID:6806264
Promoter ID:HG_KWN:58160
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:ENST00000341238,   ENST00000360591,   ENST00000404050,   NM_016086,   OTTHUMT00000252851,   OTTHUMT00000344184,   OTTHUMT00000344185,   OTTHUMT00000344188,   OTTHUMT00000344676,   OTTHUMT00000344677,   OTTHUMT00000344823,   OTTHUMT00000344831,   OTTHUMT00000344832,   UC003UEJ.2,   UC003UEK.2,   UC003UEM.1,   UC010LDG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36775,515,236 - 75,515,977 (-)MPROMDB
RGD ID:6805906
Promoter ID:HG_KWN:58161
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000344187
Position:
Human AssemblyChrPosition (strand)Source
Build 36775,520,761 - 75,522,247 (+)MPROMDB
RGD ID:6805907
Promoter ID:HG_KWN:58162
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000344189
Position:
Human AssemblyChrPosition (strand)Source
Build 36775,526,846 - 75,527,812 (+)MPROMDB
RGD ID:7210857
Promoter ID:EPDNEW_H11174
Type:initiation region
Name:MDH2_1
Description:malate dehydrogenase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38776,048,106 - 76,048,166EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6971 AgrOrtholog
COSMIC MDH2 COSMIC
Ensembl Genes ENSG00000146701 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000315758 ENTREZGENE
  ENST00000315758.10 UniProtKB/Swiss-Prot
  ENST00000432020 ENTREZGENE
  ENST00000432020.2 UniProtKB/Swiss-Prot
  ENST00000443006 ENTREZGENE
  ENST00000443006.5 UniProtKB/TrEMBL
  ENST00000461263 ENTREZGENE
  ENST00000461263.2 UniProtKB/TrEMBL
Gene3D-CATH 3.90.110.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000146701 GTEx
HGNC ID HGNC:6971 ENTREZGENE
Human Proteome Map MDH2 Human Proteome Map
InterPro L-lactate/malate_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lactate/malate_DH_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lactate/malate_DH_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lactate_DH/Glyco_Ohase_4_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Malate_DH_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Malate_DH_type1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4191 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4191 ENTREZGENE
OMIM 154100 OMIM
PANTHER MALATE AND LACTATE DEHYDROGENASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MALATE DEHYDROGENASE, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ldh_1_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ldh_1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30716 PharmGKB
PIRSF Lac_mal_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE MDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROKAR_LIPOPROTEIN UniProtKB/TrEMBL
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56327 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R4K3 ENTREZGENE, UniProtKB/TrEMBL
  A8K414 ENTREZGENE
  B2RE78 ENTREZGENE
  B3KTM1 ENTREZGENE, UniProtKB/TrEMBL
  B4DE44 ENTREZGENE
  E9PDB2 ENTREZGENE
  G3XAL0 ENTREZGENE, UniProtKB/TrEMBL
  MDHM_HUMAN UniProtKB/Swiss-Prot
  O43682 ENTREZGENE
  P40926 ENTREZGENE
  Q0QF37_HUMAN UniProtKB/TrEMBL
  Q6FHZ0 ENTREZGENE, UniProtKB/TrEMBL
  Q75MP7_HUMAN UniProtKB/TrEMBL
  Q75MT9_HUMAN UniProtKB/TrEMBL
  U3KQ63_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K414 UniProtKB/Swiss-Prot
  B2RE78 UniProtKB/Swiss-Prot
  B4DE44 UniProtKB/Swiss-Prot
  E9PDB2 UniProtKB/Swiss-Prot
  O43682 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 MDH2  malate dehydrogenase 2  MDH2  malate dehydrogenase 2, NAD (mitochondrial)  Symbol and/or name change 5135510 APPROVED