MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:8146
Name:Molybdenum Cofactor Deficiency, Complementation Group B
Definition:
Alternative IDs:DO:DOID:0111163|OMIM:252160
ParentIDs:MESH:D008664
TreeNumbers:C16.320.565.618/C565373 |C18.452.648.618/C565373
Synonyms:MOCODB
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: C565373
MeSH: C565373
OMIM: 252160;
MSeqDR LSDB:  
Genes: MOCS2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003447Axonal loss
3 HP:0002059Cerebral atrophy
4 HP:0001083Ectopia lentis
5 HP:0011968Feeding difficulties
6 HP:0002007Frontal bossing
7 HP:0000293Full cheeks
8 HP:0002171Gliosis
9 HP:0001510Growth delay
NAMDC:  Growth delay
10 HP:0000316Hypertelorism
11 HP:0002079Hypoplasia of the corpus callosum
12 HP:0003537Hypouricemia
13 HP:0011814Increased urinary hypoxanthine
14 HP:0003166Increased urinary taurine
15 HP:0000276Long face
16 HP:0000343Long philtrum
17 HP:0000256Macrocephaly
18 HP:0000252Microcephaly
19 HP:0003570Molybdenum cofactor deficiency
20 HP:0003739Myoclonic spasms
21 HP:0000639Nystagmus
22 HP:0002179Opisthotonus
23 HP:0011096Peripheral demyelination
24 HP:0003676Progressive
25 HP:0003196Short nose
26 HP:0002510Spastic tetraplegia
27 HP:0012471Thick vermilion border
28 HP:0002119Ventriculomegaly
29 HP:0000804Xanthine nephrolithiasis
30 HP:0010934Xanthinuria
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_002203.4(ITGA2):c.*3813G>A-1ITGA2;MOCS2Uncertain significance-1RCV001154273|RCV001154274; NMONDO:MONDO:0013622,MedGen:C3280114,OMIM:614200, Orphanet:73271, Orphanet:98886|MONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239024252390242GA5:g.52390242G>A-
NM_004531.5(MOCS2):c.*2582A>C-1ITGA2;MOCS2Benign-1RCV001151318|RCV001156773; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:833|MONDO:MONDO:0013622,MedGen:C3280114,OMIM:614200, Orphanet:73271, Orphanet:9888655239185052391850TG5:g.52391850T>G-
NM_004531.5(MOCS2):c.*2415C>T-1ITGA2;MOCS2Benign-1RCV001151319|RCV001151320; NMONDO:MONDO:0013622,MedGen:C3280114,OMIM:614200, Orphanet:73271, Orphanet:98886|MONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239201752392017GA5:g.52392017G>A-
NM_004531.5(MOCS2):c.*2158C>T-1ITGA2;MOCS2Benign-1RCV001151322|RCV001151323; NMONDO:MONDO:0013622,MedGen:C3280114,OMIM:614200, Orphanet:73271, Orphanet:98886|MONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239227452392274GA5:g.52392274G>A-
NM_004531.5(MOCS2):c.*2045G>A-1ITGA2;MOCS2Conflicting interpretations of pathogenicity-1RCV001151324|RCV001151325; NMONDO:MONDO:0013622,MedGen:C3280114,OMIM:614200, Orphanet:73271, Orphanet:98886|MONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239238752392387CT5:g.52392387C>T-
NM_004531.5(MOCS2):c.*2032G>A-1ITGA2;MOCS2Benign-1RCV001154361|RCV001154362; NMONDO:MONDO:0013622,MedGen:C3280114,OMIM:614200, Orphanet:73271, Orphanet:98886|MONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239240052392400CT5:g.52392400C>T-
NM_004531.5(MOCS2):c.*1872C>T-1ITGA2;MOCS2Benign-1RCV001154366|RCV001154367; NMONDO:MONDO:0013622,MedGen:C3280114,OMIM:614200, Orphanet:73271, Orphanet:98886|MONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239256052392560GA5:g.52392560G>A-
NM_004531.5(MOCS2):c.*171G>C-1ITGA2;MOCS2Conflicting interpretations of pathogenicityrs191465075RCV000289879|RCV000331679|RCV001154471; NHuman Phenotype Ontology:HP:0003570,MONDO:MONDO:0020480,MedGen:C0268119,OMIM:PS252150, Orphanet:833, Orphanet:99732|MONDO:MONDO:0013622,MedGen:C3280114,OMIM:614200, Orphanet:73271, Orphanet:98886|MONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308355239426152394261CG5:g.52394261C>GClinGen:CA10624747
NM_004531.5(MOCS2):c.*44A>C-1ITGA2;MOCS2Conflicting interpretations of pathogenicityrs367775935RCV000381148|RCV000386161|RCV001154473; NHuman Phenotype Ontology:HP:0003570,MONDO:MONDO:0020480,MedGen:C0268119,OMIM:PS252150, Orphanet:833, Orphanet:99732|MONDO:MONDO:0013622,MedGen:C3280114,OMIM:614200, Orphanet:73271, Orphanet:98886|MONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308355239438852394388TG5:g.52394388T>GClinGen:CA3263562
NM_004531.5(MOCS2):c.*2900A>G4338MOCS2Likely benign-1RCV001156767; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239153252391532TC5:g.52391532T>C-
NM_004531.5(MOCS2):c.*2877G>T4338MOCS2Uncertain significance-1RCV001156768; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239155552391555CA5:g.52391555C>A-
NM_004531.5(MOCS2):c.*2675A>C4338MOCS2Uncertain significance-1RCV001156769; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239175752391757TG5:g.52391757T>G-
NM_004531.5(MOCS2):c.*2672G>C4338MOCS2Uncertain significance-1RCV001156770; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239176052391760CG5:g.52391760C>G-
NM_004531.5(MOCS2):c.*2651G>T4338MOCS2Benign-1RCV001156771; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239178152391781CA5:g.52391781C>A-
NM_004531.5(MOCS2):c.*2609G>C4338MOCS2Uncertain significance-1RCV001156772; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239182352391823CG5:g.52391823C>G-
NM_004531.5(MOCS2):c.*2357T>C4338MOCS2Likely benign-1RCV001151321; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239207552392075AG5:g.52392075A>G-
NM_004531.5(MOCS2):c.*1918A>G4338MOCS2Uncertain significance-1RCV001154363; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239251452392514TC5:g.52392514T>C-
NM_004531.5(MOCS2):c.*1673T>C4338MOCS2Benign-1RCV001155211; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239275952392759AG5:g.52392759A>G-
NM_004531.5(MOCS2):c.*1658G>A4338MOCS2Uncertain significance-1RCV001155212; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239277452392774CT5:g.52392774C>T-
NM_004531.5(MOCS2):c.*1545G>A4338MOCS2Uncertain significance-1RCV001155213; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239288752392887CT5:g.52392887C>T-
NM_004531.5(MOCS2):c.*1544C>A4338MOCS2Benign-1RCV001155214; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239288852392888GT5:g.52392888G>T-
NM_004531.5(MOCS2):c.*1483C>T4338MOCS2Uncertain significance-1RCV001155215; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239294952392949GA5:g.52392949G>A-
NM_004531.5(MOCS2):c.*1424G>A4338MOCS2Uncertain significance-1RCV001156869; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239300852393008CT5:g.52393008C>T-
NM_004531.5(MOCS2):c.*1284C>G4338MOCS2Uncertain significance-1RCV001156870; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239314852393148GC5:g.52393148G>C-
NM_004531.5(MOCS2):c.*1167G>A4338MOCS2Uncertain significance-1RCV001156871; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239326552393265CT5:g.52393265C>T-
NM_004531.5(MOCS2):c.*1011G>A4338MOCS2Benign-1RCV001156872; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239342152393421CT5:g.52393421C>T-
NM_004531.5(MOCS2):c.*876T>C4338MOCS2Uncertain significance-1RCV001156873; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239355652393556AG5:g.52393556A>G-
NM_004531.5(MOCS2):c.*837T>C4338MOCS2Uncertain significance-1RCV001156874; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239359552393595AG5:g.52393595A>G-
NM_004531.5(MOCS2):c.*735G>A4338MOCS2Benign-1RCV001156875; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239369752393697CT5:g.52393697C>T-
NM_004531.5(MOCS2):c.*722T>C4338MOCS2Uncertain significance-1RCV001151441; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239371052393710AG5:g.52393710A>G-
NM_004531.5(MOCS2):c.*673A>T4338MOCS2Uncertain significance-1RCV001151442; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239375952393759TA5:g.52393759T>A-
NM_004531.5(MOCS2):c.*651G>A4338MOCS2Uncertain significance-1RCV001151443; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239378152393781CT5:g.52393781C>T-
NM_004531.5(MOCS2):c.*566C>T4338MOCS2Benign-1RCV001151444; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239386652393866GA5:g.52393866G>A-
NM_004531.5(MOCS2):c.*532G>A4338MOCS2Uncertain significancers886060695RCV000359962; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239390052393900CT5:g.52393900C>TClinGen:CA10624736
NM_004531.5(MOCS2):c.*518C>T4338MOCS2Uncertain significance-1RCV001151445; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239391452393914GA5:g.52393914G>A-
NM_004531.5(MOCS2):c.*372G>A4338MOCS2Uncertain significancers753919594RCV000320281; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239406052394060CT5:g.52394060C>TClinGen:CA10621995
NM_004531.5(MOCS2):c.*344C>T4338MOCS2Uncertain significance-1RCV001154469; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239408852394088GA5:g.52394088G>A-
NM_004531.5(MOCS2):c.*143G>A4338MOCS2Uncertain significancers2233223RCV000328524; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239428952394289CT5:g.52394289C>TClinGen:CA10624959
NM_004531.5(MOCS2):c.*122G>A4338MOCS2Uncertain significance-1RCV001154472; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239431052394310CT5:g.52394310C>T-
NM_004531.5(MOCS2):c.*32C>G4338MOCS2Uncertain significance-1RCV001154474; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239440052394400GC5:g.52394400G>C-
NM_004531.5(MOCS2):c.567A>C (p.Ter189Tyr)4338MOCS2Pathogenicrs121908609RCV000006489; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239443252394432TG5:g.52394432T>GClinGen:CA117950,OMIM:603708.0008C1854989 252160 Molybdenum cofactor deficiency, complementation group B;
NM_004531.5(MOCS2):c.539_540del (p.Lys180fs)4338MOCS2Likely pathogenicrs398122797RCV000006482; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239445952394460CTTC5:g.52394459_52394460delClinGen:CA117940,OMIM:603708.0001C1854989 252160 Molybdenum cofactor deficiency, complementation group B;
NM_004531.5(MOCS2):c.502G>A (p.Glu168Lys)4338MOCS2Pathogenicrs121908605RCV000006483; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239449752394497CT5:g.52394497C>TUniProtKB:O96007#VAR_012765,OMIM:603708.0002,ClinGen:CA117941C1854989 252160 Molybdenum cofactor deficiency, complementation group B;
NM_004531.5(MOCS2):c.415G>A (p.Val139Met)4338MOCS2Uncertain significancers199581021RCV000998382|RCV001154475; NMedGen:CN517202|MONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239632752396327CT5:g.52396327C>T-
NM_004531.5(MOCS2):c.367C>T (p.His123Tyr)4338MOCS2Conflicting interpretations of pathogenicityrs2233218RCV000203023|RCV000584906|RCV001155307; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239719952397199GA5:g.52397199G>AClinGen:CA249227,UniProtKB:O96007#VAR_050093CN517202 not provided;
NM_004531.5(MOCS2):c.346_349del (p.Val116fs)4338MOCS2Uncertain significancers398122798RCV000006484|RCV000288995; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:833|Human Phenotype Ontology:HP:0003570,MONDO:MONDO:0020480,MedGen:C0268119,OMIM:PS252150, Orphanet:833, Orphanet:9973255239721752397220TTGACT5:g.52397217_52397220delClinGen:CA117942,OMIM:603708.0003C0268119 Combined molybdoflavoprotein enzyme deficiency;
NM_004531.5(MOCS2):c.296C>T (p.Ala99Val)4338MOCS2Uncertain significancers2233217RCV000350921|RCV000998384; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:833|MedGen:CN51720255239727052397270GA5:g.52397270G>AClinGen:CA3263654C0268119 Combined molybdoflavoprotein enzyme deficiency;
NM_004531.5(MOCS2):c.261C>T (p.Val87=)4338MOCS2Uncertain significancers777565219RCV000397962; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239730552397305GA5:g.52397305G>AClinGen:CA3263663
NM_004531.5(MOCS2):c.229A>G (p.Thr77Ala)4338MOCS2Benign-1RCV001155308; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239733752397337TC5:g.52397337T>C-
NM_004531.5(MOCS2):c.108G>A (p.Met36Ile)4338MOCS2Uncertain significancers140563222RCV000585182|RCV000764611; NMedGen:CN517202|MONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239804552398045CT5:g.52398045C>TClinGen:CA3263714CN517202 not provided;
NM_004531.5(MOCS2):c.104A>G (p.Asp35Gly)4338MOCS2Likely benign-1RCV001156979; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239804952398049TC5:g.52398049T>C-
NM_004531.5(MOCS2):c.65dup (p.Leu23fs)4338MOCS2Pathogenicrs398122799RCV000006485; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355240293952402940TTG5:g.52402939_52402940insGOMIM:603708.0004,ClinGen:CA117943C1854989 252160 Molybdenum cofactor deficiency, complementation group B;
NM_004531.5(MOCS2):c.3G>A (p.Met1Ile)4338MOCS2Pathogenicrs121908606RCV000006486; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355240300252403002CT5:g.52403002C>TClinGen:CA117944,OMIM:603708.0005C1854989 252160 Molybdenum cofactor deficiency, complementation group B;
NM_004531.5(MOCS2):c.2T>G (p.Met1Arg)4338MOCS2Pathogenicrs772575104RCV000714697; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355240300352403003AC5:g.52403003A>C-
NM_004531.5(MOCS2):c.-10C>T4338MOCS2Uncertain significancers146074751RCV000300889; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355240301452403014GA5:g.52403014G>AClinGen:CA3263776
NM_004531.5(MOCS2):c.-54A>C4338MOCS2Uncertain significancers1561177917RCV000714801; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355240435852404358TG5:g.52404358T>G-
NM_004531.5(MOCS2):c.-71G>A4338MOCS2Uncertain significancers773035025RCV000354658; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355240437552404375CT5:g.52404375C>TClinGen:CA3263800
NM_004531.5(MOCS2):c.-163GTATT[1]4338MOCS2Likely pathogenic-1RCV001196957; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355240445852404462AAATACA5:g.52404458_52404462del-
NM_004531.5(MOCS2):c.-169G>T4338MOCS2Pathogenicrs121908608RCV000006488; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355240447352404473CA5:g.52404473C>AUniProtKB:O96033#VAR_054854,OMIM:603708.0007,ClinGen:CA117949C1854989 252160 Molybdenum cofactor deficiency, complementation group B;
NM_004531.5(MOCS2):c.-622G>A4338MOCS2Uncertain significancers373522800RCV000391666; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355240553352405533CT5:g.52405533C>TClinGen:CA3263841
NM_004531.5(MOCS2):c.-630G>T4338MOCS2Uncertain significance-1RCV001090122; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355240554152405541CA5:g.52405541C>A-
NM_004531.5(MOCS2):c.-633C>T4338MOCS2Pathogenicrs121908607RCV000006487|RCV000721967; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:833|MONDO:MONDO:0009643,MedGen:C1854988,OMIM:252150, Orphanet:308386, Orphanet:83355240554452405544GA5:g.52405544G>AClinGen:CA117947,OMIM:603708.0006C1854989 252160 Molybdenum cofactor deficiency, complementation group B;
NM_004531.5(MOCS2):c.-656_-634del4338MOCS2Pathogenicrs397518417RCV000006490; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355240554552405567GGCACAGCGGCACCATCCCGCCTAG5:g.52405545_52405567delOMIM:603708.0009,ClinGen:CA117952C1854989 252160 Molybdenum cofactor deficiency, complementation group B;
NM_004531.5(MOCS2):c.-635G>A4338MOCS2Uncertain significancers572637154RCV000305729|RCV000998389; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:833|MedGen:CN51720255240554652405546CT5:g.52405546C>TClinGen:CA3263844C0268119 Combined molybdoflavoprotein enzyme deficiency;
NM_004531.5(MOCS2):c.-642C>T4338MOCS2Uncertain significancers886060696RCV000358223; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355240555352405553GA5:g.52405553G>AClinGen:CA10620584C0268119 Combined molybdoflavoprotein enzyme deficiency;
NM_004531.5(MOCS2):c.-646G>A4338MOCS2Uncertain significancers1273139451RCV001004857; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355240555752405557CT5:g.52405557C>T-
NM_004531.5(MOCS2):c.-664C>A4338MOCS2Uncertain significancers764809636RCV000265542; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355240557552405575GT5:g.52405575G>TClinGen:CA10624757C0268119 Combined molybdoflavoprotein enzyme deficiency;
NM_176806.3(MOCS2):c.-37T>C4338MOCS2Uncertain significancers757181179RCV000327642; NMONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355240559652405596AG5:g.52405596A>GClinGen:CA3263858C0268119 Combined molybdoflavoprotein enzyme deficiency;
NM_004531.5(MOCS2):c.*1913G>A-1MOCS2;ITGA2Benign/Likely benign-1RCV001154364|RCV001154365; NMONDO:MONDO:0013622,MedGen:C3280114,OMIM:614200, Orphanet:73271, Orphanet:98886|MONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308393, Orphanet:83355239251952392519CT5:g.52392519C>T-
NM_004531.5(MOCS2):c.*321A>G-1MOCS2;ITGA2Conflicting interpretations of pathogenicityrs73756618RCV000276645|RCV000377223|RCV001154470; NMONDO:MONDO:0013622,MedGen:C3280114,OMIM:614200, Orphanet:73271, Orphanet:98886|Human Phenotype Ontology:HP:0003570,MONDO:MONDO:0020480,MedGen:C0268119,OMIM:PS252150, Orphanet:833, Orphanet:99732|MONDO:MONDO:0009644,MedGen:C1854989,OMIM:252160, Orphanet:308355239411152394111TC5:g.52394111T>CClinGen:CA10624746
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