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Isaacs Syndrome (D020386)

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..expandAccessory deep peroneal nerve (C536001)
..expandAcrodynia (D000170)
..expandAmyloid Neuropathies (D017772) Child3
..expandBrachial Plexus Neuropathies (D020516) Child4
..expandCataract ataxia deafness (C538283)
..expandComplex Regional Pain Syndromes (D020918) Child2
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..expandDiabetic Neuropathies (D003929) Child2
..expandGiant Axonal Neuropathy (D056768) Child1
..expandGuillain-Barre Syndrome (D020275) Child1
..expandHand-Arm Vibration Syndrome (D053421)
..expandHAREL-YOON SYNDROME (OMIM:617183)
..expandHypertrophic Neuropathy And Cataract (C565490)
..expandInherited Peripheral Neuropathy (C548028)
..expandIsaacs Syndrome (D020386)
..expandMononeuropathies (D020422) Child15
..expandNavajo neurohepatopathy (C538344) Child1  LSDB C:1 L: 00035;
..expandNerve Compression Syndromes (D009408) Child13
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..expandNEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC (OMIM:613376)
..expandNeuropathy, Painful (C564945)
..expandNeuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine (C563516)
..expandOptic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant (C563497)
..expandPain Insensitivity, Congenital (D000699) Child2
..expandPeripheral Nerve Injuries (D059348)
..expandPeripheral Nervous System Neoplasms (D010524) Child25  LSDB C:1
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..expandPERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
..expandPolyneuropathies (D011115) Child200  LSDB C:3
..expandRadiculopathy (D011843)
..expandSacral plexopathy (C537224)
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..expandSpinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669)
..expandTarlov Cysts (D052958)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:6498
Name:Isaacs Syndrome
Definition:A rare neuromuscular disorder with onset usually in late childhood or early adulthood, characterized by intermittent or continuous widespread involuntary muscle contractions; FASCICULATION; hyporeflexia; MUSCLE CRAMP; MUSCLE WEAKNESS; HYPERHIDROSIS; TACHYCARDIA; and MYOKYMIA. Involvement of pharyngeal or laryngeal muscles may interfere with speech and breathing. The continuous motor activity persists during sleep and general anesthesia (distinguishing this condition from STIFF-PERSON SYNDROME). Familial and acquired (primarily autoimmune) forms have been reported. (From Ann NY Acad Sci 1998 May 13;841:482-496; Adams et al., Principles of Neurology, 6th ed, p1491)
Alternative IDs:OMIM:137200
ParentIDs:MESH:D009135|MESH:D010523
TreeNumbers:C05.651.392 |C10.668.829.425
Synonyms:Acquired Neuromyotonia |Continuous Muscle Activity Syndrome |Continuous Myokymia |Continuous Myokymias |Gamstorp Wohlfart Syndrome |Gamstorp-Wohlfart Syndrome |Isaacs Mertens Syndrome |Isaacs-Mertens Syndrome |Isaacs Pseudomyotonia Syndrome |Isaacs' Syndrome |Isaa
Slim Mappings:Musculoskeletal disease|Nervous system disease
Reference: MedGen: D020386
MeSH: D020386
OMIM: 137200;
MSeqDR LSDB:  
Genes: HINT1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001760Abnormality of the foot
3 HP:0002936Distal sensory impairment
4 HP:0003236Elevated serum creatine phosphokinase
5 HP:0002380Fasciculations
6 HP:0009027Foot dorsiflexor weakness
7 HP:0000975Hyperhidrosis
8 HP:0003394Muscle cramps
9 HP:0003552Muscle stiffness
10 HP:0002411Myokymia
11 HP:0002486Myotonia
12 HP:0003676Progressive
13 HP:0003390Sensory axonal neuropathy
14 HP:0003202Skeletal muscle atrophy
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000005.9:g.(?_130494966)_(130501051_?)dup3094HINT1Uncertain significance-1RCV000801345; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130494966130501051nana-
NC_000005.10:g.(?_131159273)_(131165358_?)del3094HINT1Pathogenic-1RCV000816626; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130494966130501051nana-
NC_000005.10:g.(?_131159427)_(131165225_?)del3094HINT1Pathogenic-1RCV000654644; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130495120130500918nana-CN074193 137200 Neuromyotonia and axonal neuropathy, autosomal recessive;
NM_005340.7(HINT1):c.375del (p.Gly126fs)3094HINT1Uncertain significance-1RCV001366096; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130495146130495146CAC130495145-
NM_005340.7(HINT1):c.369G>A (p.Trp123Ter)3094HINT1Uncertain significance-1RCV002017554; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130495152130495152CT130495152-
NM_005340.7(HINT1):c.368G>A (p.Trp123Ter)3094HINT1Pathogenicrs1580682390RCV000789326|RCV001353157; NMONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166|MONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130495153130495153CT5:g.130495153C>T-
NM_005340.7(HINT1):c.365A>T (p.His122Leu)3094HINT1Uncertain significancers780156681RCV000523424|RCV001210096; NMedGen:CN517202|MONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130495156130495156TA5:g.130495156T>AClinGen:CA3398549CN169374 not specified;
NM_005340.7(HINT1):c.355C>T (p.Arg119Trp)3094HINT1Conflicting interpretations of pathogenicityrs768248277RCV001256188; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130495166130495166GA5:g.130495166G>A-
NM_005340.7(HINT1):c.334C>A (p.His112Asn)3094HINT1Pathogenicrs373849532RCV000030855; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130495187130495187GT5:g.130495187G>TClinGen:CA130161,UniProtKB:P49773#VAR_069217,OMIM:601314.0004CN074193 137200 Neuromyotonia and axonal neuropathy, autosomal recessive;
NM_005340.7(HINT1):c.329_330dup (p.Val111fs)3094HINT1Uncertain significancers1561535921RCV000816232; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130495190130495191CCGT5:g.130495190_130495191insGT-
NM_005340.7(HINT1):c.331G>A (p.Val111Ile)3094HINT1Uncertain significancers147406252RCV001243553; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130495190130495190CT5:g.130495190C>T-
NM_005340.7(HINT1):c.330C>T (p.His110=)3094HINT1Benign/Likely benignrs139624223RCV000527733|RCV000608338; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:324442|MedGen:CN1693745130495191130495191GA5:g.130495191G>AClinGen:CA3398556CN074193 137200 Neuromyotonia and axonal neuropathy, autosomal recessive;
NM_005340.7(HINT1):c.316C>T (p.Gln106Ter)3094HINT1Pathogenicrs1028404937RCV000789324|RCV001215650|RCV001090290; NMONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166|MONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:324442|MedGen:CN5172025130495205130495205GA5:g.130495205G>A-
NM_005340.7(HINT1):c.302G>A (p.Gly101Asp)3094HINT1Uncertain significance-1RCV001888061; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130495219130495219CT130495219-
NM_005340.7(HINT1):c.292G>A (p.Val98Met)3094HINT1Uncertain significancers1755196174RCV001068204; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130495229130495229CT5:g.130495229C>T-
NM_005340.7(HINT1):c.292del (p.Val97_Val98insTer)3094HINT1Pathogenic-1RCV001807937; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130495229130495229ACA130495228-
NM_005340.7(HINT1):c.289G>A (p.Val97Met)3094HINT1Likely pathogenicrs1554088064RCV000656698; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130495232130495232CT5:g.130495232C>T-CN074193 137200 Neuromyotonia and axonal neuropathy, autosomal recessive;
NM_005340.7(HINT1):c.284G>A (p.Arg95Gln)3094HINT1Uncertain significancers373197800RCV001000644|RCV001759681; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:324442|MedGen:CN5172025130495237130495237CT5:g.130495237C>T-
NM_005340.7(HINT1):c.283C>T (p.Arg95Ter)3094HINT1Pathogenic-1RCV001382703; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130495238130495238GA130495238-
NM_005340.7(HINT1):c.278G>A (p.Gly93Asp)3094HINT1Pathogenicrs397514493RCV000030858; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130495243130495243CT5:g.130495243C>TClinGen:CA130165,UniProtKB:P49773#VAR_069216,OMIM:601314.0007CN074193 137200 Neuromyotonia and axonal neuropathy, autosomal recessive;
NM_005340.7(HINT1):c.277G>T (p.Gly93Cys)3094HINT1Uncertain significancers755979803RCV000689072; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130495244130495244CANC_000005.9:g.130495244C>A-CN074193 137200 Neuromyotonia and axonal neuropathy, autosomal recessive;
NM_005340.7(HINT1):c.266G>T (p.Gly89Val)3094HINT1Pathogenic/Likely pathogenicrs397514490RCV000030854|RCV001311673|RCV001814015; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:324442|MedGen:CN517202|Human Phenotype Ontology:HP:0003157,Human Phenotype Ontology:HP:0003407,Human Phenotype Ontology:HP:0007088,Human Phenotype Ontology:HP:0007235,Human Phenotype Ontology:HP:05130495255130495255CA5:g.130495255C>AOMIM:601314.0003,ClinGen:CA130160,UniProtKB:P49773#VAR_069215CN074193 137200 Neuromyotonia and axonal neuropathy, autosomal recessive;
NM_005340.7(HINT1):c.262C>A (p.Leu88Met)3094HINT1Uncertain significance-1RCV002014458; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130495259130495259GT130495259-
NM_005340.7(HINT1):c.250T>C (p.Cys84Arg)3094HINT1Pathogenicrs397514489RCV000030853; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130495271130495271AG5:g.130495271A>GClinGen:CA130159,UniProtKB:P49773#VAR_069214,OMIM:601314.0002CN074193 137200 Neuromyotonia and axonal neuropathy, autosomal recessive;
NM_005340.7(HINT1):c.245A>T (p.Lys82Met)3094HINT1Uncertain significancers1755197320RCV001216843; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130495276130495276TA5:g.130495276T>A-
NM_005340.7(HINT1):c.243C>T (p.Gly81=)3094HINT1Uncertain significancers1426690264RCV000654643; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130495278130495278GA5:g.130495278G>AClinGen:CA446479131CN074193 137200 Neuromyotonia and axonal neuropathy, autosomal recessive;
NM_005340.7(HINT1):c.242G>T (p.Gly81Val)3094HINT1Uncertain significancers1580682534RCV000824227; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130495279130495279CA5:g.130495279C>A-
NM_005340.7(HINT1):c.237T>A (p.Ile79=)3094HINT1Uncertain significancers778878755RCV000686250; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130495284130495284ATNC_000005.9:g.130495284A>T-CN074193 137200 Neuromyotonia and axonal neuropathy, autosomal recessive;
NM_005340.7(HINT1):c.217-3C>T3094HINT1Uncertain significancers1351028496RCV000823796; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130495307130495307GA5:g.130495307G>A-
NM_005340.7(HINT1):c.216+9A>C3094HINT1Likely benign-1RCV001466209; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130498256130498256TG130498256-
NM_005340.7(HINT1):c.216T>A (p.Ser72Arg)3094HINT1Uncertain significancers780762280RCV001223262; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130498265130498265AT5:g.130498265A>T-
NM_005340.7(HINT1):c.211G>A (p.Glu71Lys)3094HINT1Uncertain significance-1RCV001371336; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130498270130498270CT130498270-
NM_005340.7(HINT1):c.203A>T (p.Asp68Val)3094HINT1Uncertain significancers371048016RCV000236287|RCV000549355; NMedGen:CN517202|MONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130498278130498278TA5:g.130498278T>AClinGen:CA3398610CN074193 137200 Neuromyotonia and axonal neuropathy, autosomal recessive;
NM_005340.7(HINT1):c.198A>G (p.Ala66=)3094HINT1Benignrs150581567RCV000875807; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130498283130498283TC5:g.130498283T>C-
NM_005340.7(HINT1):c.188T>A (p.Ile63Asn)3094HINT1Uncertain significancers1048322333RCV001215648; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130498293130498293AT5:g.130498293A>T-
NM_005340.7(HINT1):c.188T>C (p.Ile63Thr)3094HINT1Uncertain significance-1RCV001909554; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130498293130498293AG130498293-
NM_005340.7(HINT1):c.184C>T (p.Gln62Ter)3094HINT1Pathogenicrs397514492RCV000030857; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130498297130498297GA5:g.130498297G>AClinGen:CA130163,OMIM:601314.0006CN074193 137200 Neuromyotonia and axonal neuropathy, autosomal recessive;
NM_005340.7(HINT1):c.167C>T (p.Pro56Leu)3094HINT1Uncertain significancers1376505274RCV001348599; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130498314130498314GA130498314-
NM_005340.7(HINT1):c.159G>A (p.Leu53=)3094HINT1Benign/Likely benignrs199716973RCV000616342|RCV002060659; NMedGen:CN169374|MONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130498322130498322CT5:g.130498322C>TClinGen:CA3398615CN169374 not specified;
NM_005340.7(HINT1):c.157del (p.Leu53fs)3094HINT1Pathogenic-1RCV001960537; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130498324130498324AGA130498323-
NM_005340.7(HINT1):c.152A>G (p.His51Arg)3094HINT1Pathogenicrs397514491RCV000030856; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130498329130498329TC5:g.130498329T>CClinGen:CA130162,UniProtKB:P49773#VAR_069213,OMIM:601314.0005CN074193 137200 Neuromyotonia and axonal neuropathy, autosomal recessive;
NM_005340.7(HINT1):c.148A>G (p.Thr50Ala)3094HINT1Uncertain significancers368167215RCV000487593|RCV001851294; NMedGen:CN517202|MONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130498333130498333TC5:g.130498333T>CClinGen:CA3398616CN517202 not provided;
NM_005340.7(HINT1):c.148A>C (p.Thr50Pro)3094HINT1Uncertain significancers368167215RCV001042897; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130498333130498333TG5:g.130498333T>G-
NM_005340.7(HINT1):c.142G>A (p.Ala48Thr)3094HINT1Uncertain significancers1755287235RCV001210704; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130498339130498339CT5:g.130498339C>T-
NM_005340.7(HINT1):c.137C>A (p.Pro46His)3094HINT1Uncertain significancers1580684679RCV001238006; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130498344130498344GT5:g.130498344G>T-
NM_005340.7(HINT1):c.136C>T (p.Pro46Ser)3094HINT1Uncertain significancers1755287620RCV001238467; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130498345130498345GA5:g.130498345G>A-
NM_005340.7(HINT1):c.119C>G (p.Ala40Gly)3094HINT1Uncertain significancers1561537337RCV001345378; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130498362130498362GC130498362-
NM_005340.7(HINT1):c.117T>C (p.Leu39=)3094HINT1Benign/Likely benignrs78949626RCV000550261|RCV000605150|RCV001311674; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:324442|MedGen:CN169374|MedGen:CN5172025130498364130498364AG5:g.130498364A>GClinGen:CA3398620CN074193 137200 Neuromyotonia and axonal neuropathy, autosomal recessive;
NM_005340.7(HINT1):c.117T>A (p.Leu39=)3094HINT1Uncertain significancers78949626RCV001040426; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130498364130498364AT5:g.130498364A>T-
NM_005340.7(HINT1):c.112T>C (p.Cys38Arg)3094HINT1Likely pathogenicrs762701283RCV000656699; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130498369130498369AG5:g.130498369A>G-CN074193 137200 Neuromyotonia and axonal neuropathy, autosomal recessive;
NM_005340.7(HINT1):c.112-13C>T3094HINT1Likely benign-1RCV002175735; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130498382130498382GA130498382-
NM_005340.7(HINT1):c.112-29ATTT[5]3094HINT1Likely benign-1RCV002166165; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130498382130498383GGAAAT130498382-
NM_005340.7(HINT1):c.112-29ATTT[3]3094HINT1Likely benignrs1064794666RCV000485148|RCV002056779; NMedGen:CN169374|MONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130498383130498386GAAATGNC_000005.9:g.130498383AAAT[3]ClinGen:CA16618114CN169374 not specified;
NC_000005.9:g.(?_130500743)_(130501051_?)del3094HINT1Pathogenic-1RCV001386951; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130500743130501051nana-1-
NM_005340.7(HINT1):c.111+6_111+7insC3094HINT1Likely benignrs770851222RCV000538978|RCV000612050; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:324442|MedGen:CN1693745130500781130500782TTG5:g.130500781_130500782insGClinGen:CA3398655CN074193 137200 Neuromyotonia and axonal neuropathy, autosomal recessive;
NM_005340.7(HINT1):c.111+2del3094HINT1Likely pathogenic-1RCV002031398; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130500786130500786TAT130500785-
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro)3094HINT1Pathogenicrs149782619RCV000030852|RCV000235535|RCV001814014; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:324442|MedGen:CN517202|Human Phenotype Ontology:HP:0003157,Human Phenotype Ontology:HP:0003407,Human Phenotype Ontology:HP:0007088,Human Phenotype Ontology:HP:0007235,Human Phenotype Ontology:HP:05130500789130500789CG5:g.130500789C>GClinGen:CA130158,UniProtKB:P49773#VAR_069212,OMIM:601314.0001CN074193 137200 Neuromyotonia and axonal neuropathy, autosomal recessive;
NM_005340.7(HINT1):c.110G>A (p.Arg37Gln)3094HINT1Uncertain significancers149782619RCV001209450; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130500789130500789CT5:g.130500789C>T-
NM_005340.7(HINT1):c.103G>T (p.Asp35Tyr)3094HINT1Uncertain significance-1RCV001974721; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130500796130500796CA130500796-
NM_005340.7(HINT1):c.99del (p.Phe33fs)3094HINT1Pathogenic-1RCV001353160; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130500800130500800CAC130500799-
NM_005340.7(HINT1):c.92T>C (p.Ile31Thr)3094HINT1Uncertain significance-1RCV001907578; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130500807130500807AG130500807-
NM_005340.7(HINT1):c.82C>A (p.Pro28Thr)3094HINT1Uncertain significance-1RCV001974700; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130500817130500817GT130500817-
NM_005340.7(HINT1):c.81A>G (p.Ile27Met)3094HINT1Uncertain significancers1561538396RCV000698210; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130500818130500818TCNC_000005.9:g.130500818T>C-CN074193 137200 Neuromyotonia and axonal neuropathy, autosomal recessive;
NM_005340.7(HINT1):c.73A>C (p.Lys25Gln)3094HINT1Uncertain significancers747865723RCV001345849; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130500826130500826TG130500826-
NM_005340.7(HINT1):c.71G>T (p.Arg24Leu)3094HINT1Uncertain significancers201262077RCV001228887; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130500828130500828CA5:g.130500828C>A-
NM_005340.7(HINT1):c.63G>A (p.Lys21=)3094HINT1Likely benign-1RCV001435683; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130500836130500836CT130500836-
NM_005340.7(HINT1):c.61A>G (p.Lys21Glu)3094HINT1Uncertain significance-1RCV001931537; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130500838130500838TC130500838-
NM_005340.7(HINT1):c.59G>A (p.Gly20Glu)3094HINT1Uncertain significancers773013836RCV001037151|RCV001532523; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:324442|MedGen:CN5172025130500840130500840CT5:g.130500840C>T-
NM_005340.7(HINT1):c.57T>C (p.Phe19=)3094HINT1Benignrs4696RCV000246829|RCV001511458; NMedGen:CN169374|MONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130500842130500842AG5:g.130500842A>GClinGen:CA3398665CN169374 not specified;
NM_005340.7(HINT1):c.54C>G (p.Ile18Met)3094HINT1Uncertain significance-1RCV001365242; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130500845130500845GC130500845-
NM_005340.7(HINT1):c.33T>G (p.Ala11=)3094HINT1Likely benign-1RCV001485127; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130500866130500866AC130500866-
NM_005340.7(HINT1):c.13A>C (p.Ile5Leu)3094HINT1Uncertain significance-1RCV002040137; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130500886130500886TG130500886-
NM_005340.7(HINT1):c.2T>C (p.Met1Thr)3094HINT1Likely pathogenicrs1580686455RCV000799984; NMONDO:MONDO:0007646,MedGen:CN074193,OMIM:137200, Orphanet:3244425130500897130500897AG5:g.130500897A>G-
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