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
Disease Browser
Parent Node:
expand
Gonadal Dysgenesis, 46,XX (D023961)
Parent Node:
expand
Hearing Loss, Sensorineural (D006319)
..Starting node
..expand
Gonadal dysgenesis XX type deafness (C537286)

       Child Nodes:
........expandD-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)



 Sister Nodes: 
..expandAcrootoocular Syndrome (C564866)
..expandAlbinism ocular late onset sensorineural deafness (C537043)
..expandArthrogryposis-like hand anomaly and sensorineural deafness (C535386)
..expandAtaxia, Deafness, and Cardiomyopathy (C565932)
..expandAthabaskan brainstem dysgenesis (C535397)
..expandAtherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)
..expandAuditory Neuropathy, Nonsyndromic Recessive (C563398)
..expandAxenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
..expandAxenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..expandBADS Syndrome (C562663)
..expandBarakat syndrome (C537907)
..expandBartter Syndrome, Type 4A (C566530)
..expandBartter Syndrome, Type 4b (C567762)
..expandBjornstad syndrome (C537633)  LSDB  L: 00084;
..expandBoudhina Yedes Khiari syndrome (C537939)
..expandBrachydactyly, Intraventricular Septal Defect, And Deafness (C566521)
..expandBrown-Vialetto-Van Laere syndrome (C537111)
..expandCAPOS syndrome (C535351)
..expandCardiomyopathy, Dilated, 1J (C565337)
..expandCataract ataxia deafness (C538283)
..expandCataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation (C563390)
..expandCATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
..expandCerebellar Ataxia and Hypergonadotropic Hypogonadism (C565308)
..expandCerebellar Ataxia and Neurosensory Deafness (C565869)
..expandCerebellar Ataxia, Deafness, and Narcolepsy (C565825)
..expandCharcot-Marie-Tooth disease and deafness (C538078)
..expandCharcot-Marie-Tooth disease, Type 2J (C535417)
..expandChitty Hall Baraitser syndrome (C535928)
..expandChudley-Mccullough syndrome (C535459)
..expandCleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss (C536427)
..expandCochleosaccular degeneration of the inner ear and progressive cataracts (C536432)
..expandColoboma, cleft lip-palate and mental retardation syndrome (C535971)
..expandCongenital ectodermal dysplasia with hearing loss (C535757)
..expandCorneal dystrophy and perceptive deafness (C535473)
..expandCowchock syndrome (C536450)
..expandCraniofacial deafness hand syndrome (C536453)
..expandCutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (C565306)
..expandDeafness enamel hypoplasia nail defects (C535994)
..expandDeafness oligodontia syndrome (C538049)
..expandDeafness, Aminoglycoside-Induced (C564013)  LSDB  L: 00051;
..expandDeafness, Autosomal Dominant 1 (C565121)
..expandDeafness, Autosomal Dominant 10 (C563354)
..expandDeafness, Autosomal Dominant 11 (C563353)
..expandDeafness, Autosomal Dominant 12 (C563295)
..expandDeafness, Autosomal Dominant 13 (C566612)
..expandDeafness, Autosomal Dominant 15 (C566545)
..expandDeafness, Autosomal Dominant 16 (C565832)
..expandDeafness, Autosomal Dominant 18 (C565267)
..expandDeafness, Autosomal Dominant 20 (C565754)
..expandDeafness, Autosomal Dominant 21 (C564634)
..expandDeafness, Autosomal Dominant 23 (C565357)
..expandDeafness, Autosomal Dominant 24 (C565239)
..expandDeafness, Autosomal Dominant 25 (C565319)
..expandDeafness, Autosomal Dominant 28 (C563890)
..expandDeafness, Autosomal Dominant 2A (C567441)
..expandDeafness, Autosomal Dominant 2B (C567214)
..expandDeafness, Autosomal Dominant 30 (C564706)
..expandDeafness, Autosomal Dominant 31 (C563888)
..expandDeafness, Autosomal Dominant 36 (C564675)
..expandDeafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 (C565316)
..expandDeafness, Autosomal Dominant 3A (C567277)
..expandDeafness, Autosomal Dominant 3B (C567215)
..expandDeafness, Autosomal Dominant 4 (C563460)
..expandDeafness, Autosomal Dominant 41 (C564272)
..expandDeafness, Autosomal Dominant 43 (C564246)
..expandDeafness, Autosomal Dominant 44 (C564399)
..expandDeafness, Autosomal Dominant 47 (C563885)
..expandDeafness, Autosomal Dominant 48 (C564322)
..expandDeafness, Autosomal Dominant 49 (C564250)
..expandDeafness, Autosomal Dominant 5 (C563410)
..expandDeafness, Autosomal Dominant 52 (C564348)
..expandDeafness, Autosomal Dominant 53 (C566495)
..expandDeafness, Autosomal Dominant 59 (C567216)
..expandDeafness, Autosomal Dominant 6 (C563421)
..expandDeafness, Autosomal Dominant 7 (C563321)
..expandDeafness, Autosomal Dominant 9 (C563335)
..expandDeafness, autosomal dominant nonsyndromic sensorineural 17 (C538050)
..expandDeafness, autosomal dominant nonsyndromic sensorineural 22 (C538197)
..expandDeafness, autosomal dominant nonsyndromic sensorineural 23 (C538198)
..expandDeafness, autosomal dominant nonsyndromic sensorineural 24 (C538199)
..expandDeafness, Autosomal Recessive (C564609)
..expandDeafness, Autosomal Recessive 10 (C565341) Child1
..expandDeafness, Autosomal Recessive 12 (C563327)
..expandDeafness, Autosomal Recessive 13 (C566410)
..expandDeafness, Autosomal Recessive 14 (C566344)
..expandDeafness, Autosomal Recessive 15 (C566611)
..expandDeafness, Autosomal Recessive 16 (C566339)
..expandDeafness, Autosomal Recessive 17 (C566418)
..expandDeafness, Autosomal Recessive 18 (C566580) Child1
..expandDeafness, Autosomal Recessive 1A (C567134)  LSDB  L: 00489;
..expandDeafness, Autosomal Recessive 1b (C567213)
..expandDeafness, Autosomal Recessive 2 (C564007)
..expandDeafness, Autosomal Recessive 20 (C565828)
..expandDeafness, Autosomal Recessive 21 (C566353)
..expandDeafness, Autosomal Recessive 22 (C564633)
..expandDeafness, Autosomal Recessive 23 (C563705)
..expandDeafness, Autosomal Recessive 26 (C565329)
..expandDeafness, Autosomal Recessive 27 (C565287)
..expandDeafness, Autosomal Recessive 28 (C565218)
..expandDeafness, Autosomal Recessive 3 (C563961)
..expandDeafness, Autosomal Recessive 30 (C564624)
..expandDeafness, Autosomal Recessive 31 (C564629)
..expandDeafness, Autosomal Recessive 32 (C563884)
..expandDeafness, Autosomal Recessive 33 (C564602)
..expandDeafness, Autosomal Recessive 35 (C563908)
..expandDeafness, Autosomal Recessive 36 (C563815)
..expandDeafness, Autosomal Recessive 37 (C564331)
..expandDeafness, Autosomal Recessive 38 (C564273)
..expandDeafness, Autosomal Recessive 39 (C564265)
..expandDeafness, Autosomal Recessive 4 (C566366)
..expandDeafness, Autosomal Recessive 40 (C564266)
..expandDeafness, Autosomal Recessive 42 (C566460)
..expandDeafness, Autosomal Recessive 44 (C565716)
..expandDeafness, Autosomal Recessive 46 (C566459)
..expandDeafness, Autosomal Recessive 47 (C566498)
..expandDeafness, Autosomal Recessive 48 (C563720)
..expandDeafness, Autosomal Recessive 49 (C565717)
..expandDeafness, Autosomal Recessive 5 (C563444)
..expandDeafness, Autosomal Recessive 53 (C566453)
..expandDeafness, Autosomal Recessive 59 (C565698)
..expandDeafness, Autosomal Recessive 6 (C563418)
..expandDeafness, Autosomal Recessive 62 (C565719)
..expandDeafness, Autosomal Recessive 63 (C566951)
..expandDeafness, Autosomal Recessive 65 (C565211)
..expandDeafness, Autosomal Recessive 66 (C565701)
..expandDeafness, Autosomal Recessive 67 (C565207)
..expandDeafness, Autosomal Recessive 68 (C563669)
..expandDeafness, Autosomal Recessive 7 (C563417)
..expandDeafness, Autosomal Recessive 71 (C567562)
..expandDeafness, Autosomal Recessive 77 (C567543)
..expandDeafness, Autosomal Recessive 79 (C567651)
..expandDeafness, Autosomal Recessive 9 (C563396)
..expandDeafness, Autosomal Recessive, 24 (C567027)
..expandDeafness, Childhood-Onset Neurosensory, Autosomal Recessive 8 (C563395) Child1
..expandDeafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
..expandDeafness, Congenital, with Total Albinism (C565646)
..expandDeafness, High-Frequency Sensorineural, X-Linked (C564432)
..expandDeafness, Mid-Tone Neural (C565122)
..expandDeafness, Progressive High-Tone Neural (C562423)
..expandDeafness, Sensorineural, And Male Infertility (C567010)
..expandDeafness, Sensorineural, Autosomal-Mitochondrial Type (C565637)  LSDB  L: 00159;
..expandDeafness, Sensorineural, with Hypertrophic Cardiomyopathy (C565236)
..expandDeafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease (C565120)
..expandDeafness, X-Linked 1 (C564433)
..expandDeafness, X-Linked 3 (C564727)
..expandDeafness, X-Linked 4 (C564723)
..expandDeafness, X-Linked 5 (C564472)
..expandDigitorenocerebral Syndrome (C563052)
..expandDonnai-Barrow syndrome (C536390)
..expandEctodermal Dysplasia and Neurosensory Deafness (C565606)
..expandEctodermal dysplasia, sensorineural hearing loss, and distinctive facial features (C536182)
..expandErmine phenotype (C535508)
..expandFitzsimmons Walson Mellor syndrome (C537937)
..expandFlynn Aird syndrome (C537066)
..expandFriedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)
..expandGemignani syndrome (C537678)
..expandGonadal dysgenesis XX type deafness (C537286) Child1
..expandGriscelli syndrome type 1 (C537301)
..expandHearing Loss, Central (D006313) Child16  LSDB C:1
..expandHearing Loss, Noise-Induced (D006317)
..expandHID Syndrome (C566528)
..expandHistiocytosis with joint contractures and sensorineural deafness (C538322)
..expandHittner Hirsch Kreh syndrome (C538323)
..expandHomozygous 11p15-p14 Deletion Syndrome (C564701)
..expandInsulin-Like Growth Factor I Deficiency (C563867)
..expandJohanson Blizzard syndrome (C535880)
..expandKnuckle pads, leuconychia and sensorineural deafness (C537210)
..expandLICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
..expandLipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones (C564283)
..expandMacrothrombocytopenia progressive deafness (C537831)
..expandMarshall syndrome (C536025)
..expandMartin-Probst Deafness-Mental Retardation Syndrome (C564495)
..expandMYH9-Related Disorders (C535507)
..expandNephropathy deafness hyperparathyroidism (C536401)
..expandNephropathy with Pretibial Epidermolysis Bullosa and Deafness (C563798)
..expandNephropathy, Progressive, with Deafness (C563713)
..expandNeuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia (C566352)
..expandNonsyndromic sensorineural hearing loss (C537845)
..expandOptic atrophy 1 and deafness (C537124)  LSDB  L: 00657;
..expandOptic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..expandOtodental Dysplasia (C563482)
..expandOtofacioosseous-Gonadal Syndrome (C566597)
..expandOTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
..expandPalmoplantar Keratoderma with Deafness (C536152)
..expandParagangliomas with Sensorineural Hearing Loss (C566831)
..expandPendred syndrome (C536648)
..expandPfeiffer Kapferer syndrome (C537887)
..expandPresbycusis (D011304) Child2
..expandProgressive hearing loss stapes fixation (C536424)
..expandPrune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness (C562894)
..expandRenal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss (C566428)
..expandRenal Tubular Acidosis, Distal, with Progressive Nerve Deafness (C562897)
..expandRetinitis Pigmentosa Inversa with Deafness (C564842)
..expandRobinson Miller Bensimon syndrome (C535864)
..expandRod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction (C564829)
..expandSchaap Taylor Baraitser syndrome (C536626)
..expandSensorineural Deafness With Mild Renal Dysfunction (C567544)
..expandSensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth (C566560)
..expandSeSAME syndrome (C557674)
..expandSpastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
..expandSplit-Hand-Foot Malformation With Sensorineural Hearing Loss (C565647)
..expandSpondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
..expandStickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..expandStickler syndrome, type 1 (C537492)
..expandSTICKLER SYNDROME, TYPE IV (OMIM:614134)
..expandSTICKLER SYNDROME, TYPE V (OMIM:614284)
..expandThiamine responsive megaloblastic anemia syndrome (C536510)
..expandTownes-Brocks syndrome (C536974)
..expandTownes-Brocks-Branchiootorenal-Like Syndrome (C566272)
..expandTreft Sanborn Carey syndrome (C536544)
..expandTunglang Savage Bellman syndrome (C536927)
..expandUsher Syndromes (D052245) Child19  LSDB  L: 00160;
..expandVohwinkel syndrome (C536457)
..expandWinkelman Bethge Pfeiffer syndrome (C536710)
..expandWolfram Syndrome 2 (C565733)  LSDB  L: 00490;
..expandWolfram Syndrome, Mitochondrial Form (C564012)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:5225
Name:Gonadal dysgenesis XX type deafness
Definition:
Alternative IDs:OMIM:233400
ParentIDs:MESH:D006319|MESH:D023961
TreeNumbers:C09.218.458.341.887/C537286 |C10.597.751.418.341.887/C537286 |C12.706.316.064.249/C537286 |C12.706.316.309.193/C537286 |C13.351.875.253.064.249/C537286 |C13.351.875.253.309.193/C537286 |C16.131.939.316.064.249/C537286 |C16.131.939.316.309.193/C537286 |C19.391.11
Synonyms:17-beta-hydroxysteroid dehydrogenase 4, deficiency of |GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS |Ovarian dysgenesis with sensorineural deafness |Peroxisomal bifunctional enzyme complex deficiency |Peroxisomal bifunctional enzyme deficiency |Perrault syndrom
Slim Mappings:Congenital abnormality|Ear-nose-throat disease|Endocrine system disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C537286
MeSH: C537286
OMIM: 233400;
MSeqDR LSDB:  
Genes: HSD17B4;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001284AreflexiaHP:0040283
3 HP:0001272Cerebellar atrophyHP:0040283
4 HP:0100543Cognitive impairment
NAMDC:  Cognitive delay
HP:0040283
5 HP:0001260Dysarthria
NAMDC:  Dysarthria
HP:0040283
6 HP:0002066Gait ataxia
7 HP:0000133Gonadal dysgenesis
8 HP:0000218High palate
9 HP:0001265HyporeflexiaHP:0040283
10 HP:0000837Increased circulating gonadotropin level
11 HP:0007941Limited extraocular movements
12 HP:0001270Motor delayHP:0040283
13 HP:0000639Nystagmus
14 HP:0000939Osteoporosis
15 HP:0001761Pes cavus
16 HP:0003812Phenotypic variability
17 HP:0000786Primary amenorrhea
18 HP:0002650Scoliosis
19 HP:0007141Sensorimotor neuropathyHP:0040283
20 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
21 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
22 HP:0001264Spastic diplegiaHP:0040283
23 HP:0001762Talipes equinovarus
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000138.5(FBN1):c.1867T>A (p.Cys623Ser)2200FBN1Likely pathogenic-1RCV001806331; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855154879731548797315AT48797315-
NC_000005.10:g.119452446C>T3295HSD17B4Uncertain significancers536737707RCV001152001|RCV001157482; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:28555118788141118788141CT5:g.118788141C>T-
NC_000005.10:g.119452457C>G3295HSD17B4Conflicting interpretations of pathogenicityrs11739468RCV001152003|RCV001152002; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:28555118788152118788152CG5:g.118788152C>G-
NM_000414.4(HSD17B4):c.-75C>G3295HSD17B4Benignrs26180RCV000294626|RCV000316794|RCV001712335; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MedGen:CN5172025118788196118788196CGNC_000005.9:g.118788196C>GClinGen:CA10618803C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.-75C>A3295HSD17B4Uncertain significancers26180RCV001152005|RCV001152004; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:3005118788196118788196CA5:g.118788196C>A-
NM_000414.4(HSD17B4):c.-28C>T3295HSD17B4Benign/Likely benignrs34353289RCV000281781|RCV000371475|RCV001718748; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MedGen:CN5172025118788243118788243CTNC_000005.9:g.118788243C>TClinGen:CA3381569C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.-27G>C3295HSD17B4Benign/Likely benignrs34604765RCV000336771|RCV000390044|RCV001697679; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MedGen:CN5172025118788244118788244GCNC_000005.9:g.118788244G>CClinGen:CA3381571C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.3G>A (p.Met1Ile)3295HSD17B4Likely pathogenicrs1085307072RCV000490425; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:28555118788273118788273GANC_000005.9:g.118788273G>AClinGen:CA360861571C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)3295HSD17B4Pathogenic/Likely pathogenicrs137853096RCV000008094|RCV000415821|RCV000688945|RCV000779455|RCV001197145; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MedGen:CN517202|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300||MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400,Or5118788316118788316GA5:g.118788316G>AClinGen:CA118960,UniProtKB:P51659#VAR_037576,OMIM:601860.0003C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.74A>G (p.Tyr25Cys)3295HSD17B4Uncertain significance-1RCV001797026; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:28555118792025118792025AG118792025-
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val)3295HSD17B4Conflicting interpretations of pathogenicityrs587777442RCV000125465|RCV000670526|RCV001092766|RCV001810425; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MedGen:CN517202|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Orph5118792052118792052CTNC_000005.9:g.118792052C>TClinGen:CA163180,OMIM:601860.0010C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.112+11G>A3295HSD17B4Uncertain significancers775970480RCV001153266|RCV001153265; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:3005118792074118792074GA5:g.118792074G>A-
NM_000414.4(HSD17B4):c.161C>A (p.Ala54Asp)3295HSD17B4Uncertain significancers141517981RCV000283002|RCV000342721; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:3005118809651118809651CANC_000005.9:g.118809651C>AClinGen:CA3381703C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.230A>G (p.Glu77Gly)3295HSD17B4Uncertain significancers769358132RCV000730097|RCV001153267|RCV001155863|RCV001868950; NMedGen:CN517202|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Or5118810105118810105AGNC_000005.9:g.118810105A>G-
NM_000414.4(HSD17B4):c.268T>C (p.Phe90Leu)3295HSD17B4Uncertain significancers28943588RCV000308214|RCV000398894; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:3005118810143118810143TCNC_000005.9:g.118810143T>CClinGen:CA3381737,UniProtKB:P51659#VAR_052309C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His)3295HSD17B4Benignrs25640RCV000179310|RCV000362861|RCV000391832|RCV000676075|RCV001517001; NMedGen:CN169374|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MedGen:CN517202|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342875118811533118811533GA5:g.118811533G>AClinGen:CA203225,UniProtKB:P51659#VAR_014872C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.349+4A>G3295HSD17B4Uncertain significance-1RCV001797027; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:28555118811569118811569AG118811569-
NM_000414.4(HSD17B4):c.388G>A (p.Val130Met)3295HSD17B4Uncertain significancers1748692405RCV001155864|RCV001155865; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:28555118813150118813150GA5:g.118813150G>A-
NM_000414.4(HSD17B4):c.420A>T (p.Lys140Asn)3295HSD17B4Benignrs28943589RCV000221723|RCV000309262|RCV000368516|RCV000711976|RCV001084537; NMedGen:CN169374|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MedGen:CN517202|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342875118813182118813182ATNC_000005.9:g.118813182A>TClinGen:CA3381825,UniProtKB:P51659#VAR_052310C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.434+44T>C3295HSD17B4Benign-1RCV001543953|RCV001543954|RCV001638147; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MedGen:CN5172025118813240118813240TC118813240-
NM_000414.4(HSD17B4):c.434+120A>G3295HSD17B4Benign-1RCV001543955|RCV001543956|RCV001619960; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MedGen:CN5172025118813316118813316AG118813316-
NM_000414.4(HSD17B4):c.466T>C (p.Tyr156His)3295HSD17B4Likely pathogenic-1RCV001806366; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:28555118814560118814560TC118814560-
NM_000414.4(HSD17B4):c.482A>C (p.Gln161Pro)3295HSD17B4Uncertain significancers771009588RCV001157566|RCV001157565|RCV001772352; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MedGen:CN5172025118814576118814576AC5:g.118814576A>C-
NM_000414.4(HSD17B4):c.622+5G>A3295HSD17B4Conflicting interpretations of pathogenicityrs536487449RCV000841012|RCV001157568|RCV001157567; NMedGen:CN517202|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:28555118814721118814721GA5:g.118814721G>A-
NM_000414.4(HSD17B4):c.643C>A (p.Pro215Thr)3295HSD17B4Uncertain significancers552078818RCV001157570|RCV001157569|RCV001772353|RCV001859026; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MedGen:CN517202|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orp5118824907118824907CA5:g.118824907C>A-
NM_000414.4(HSD17B4):c.650A>G (p.Tyr217Cys)3295HSD17B4Pathogenicrs387906825RCV000023152; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:28555118824914118824914AG5:g.118824914A>GClinGen:CA129040,UniProtKB:P51659#VAR_065907,OMIM:601860.0008C0685838 233400 Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance;
NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu)3295HSD17B4Likely pathogenic-1RCV001645023; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:28555118824916118824916GT118824916-
NM_000414.4(HSD17B4):c.666C>G (p.Val222=)3295HSD17B4Benign/Likely benignrs150677536RCV000180501|RCV000332404|RCV000274011|RCV000974778|RCV001697129; NMedGen:CN169374|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Or5118824930118824930CG5:g.118824930C>GClinGen:CA203712C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.715-13C>T3295HSD17B4Benign/Likely benignrs185869017RCV000218496|RCV001152100|RCV001152101|RCV001711991|RCV002057071; NMedGen:CN169374|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MedGen:CN517202|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,O5118827782118827782CTNC_000005.9:g.118827782C>TClinGen:CA3381951CN169374 not specified;
NM_000414.4(HSD17B4):c.718G>A (p.Gly240Arg)3295HSD17B4Uncertain significancers886059821RCV000259721|RCV000354487; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:3005118827798118827798GANC_000005.9:g.118827798G>AClinGen:CA10622272C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.739+23T>C3295HSD17B4Benignrs6895345RCV000676076|RCV001543957|RCV001543958; NMedGen:CN517202|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:28555118827842118827842TC5:g.118827842T>C-CN517202 not provided;
NM_000414.4(HSD17B4):c.790A>G (p.Met264Val)3295HSD17B4Uncertain significancers149283499RCV001152103|RCV001152102; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:3005118829563118829563AG5:g.118829563A>G-
NM_000414.4(HSD17B4):c.811G>A (p.Ala271Thr)3295HSD17B4Uncertain significancers543710228RCV000319617|RCV000374018|RCV000730900; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MedGen:CN5172025118829584118829584GANC_000005.9:g.118829584G>AClinGen:CA3381989C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.835T>G (p.Phe279Val)3295HSD17B4Uncertain significance-1RCV001799544; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:28555118829608118829608TG118829608-
NM_000414.4(HSD17B4):c.844G>C (p.Ala282Pro)3295HSD17B4Uncertain significancers1750354958RCV001153371|RCV001153370; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:28555118829617118829617GC5:g.118829617G>C-
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser)3295HSD17B4Benign/Likely benignrs1143650RCV000223502|RCV000224881|RCV000265653|RCV000320748|RCV001084093; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,O5118832244118832244CGNC_000005.9:g.118832244C>GClinGen:CA3382033,UniProtKB:P51659#VAR_024625C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer)3295HSD17B4Pathogenic/Likely pathogenicrs758055753RCV000599590|RCV000984186|RCV001250093|RCV001387755; NMedGen:CN517202|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orp5118832304118832305CATC5:g.118832304_118832305delClinGen:CA3382041CN517202 not provided;
NM_000414.4(HSD17B4):c.943C>T (p.Arg315Cys)3295HSD17B4Uncertain significancers373503389RCV000285195|RCV000379976; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:3005118832312118832312CTNC_000005.9:g.118832312C>TClinGen:CA3382043C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=)3295HSD17B4Benign/Likely benignrs192301957RCV000335620|RCV000970642|RCV001155975|RCV001153372|RCV001660545; NMedGen:CN169374|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Or5118832317118832317AG5:g.118832317A>GClinGen:CA3382044CN169374 not specified;
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met)3295HSD17B4Conflicting interpretations of pathogenicityrs150326995RCV000222427|RCV000344886|RCV000380697|RCV000731627|RCV000765793|RCV001083539; NMedGen:CN169374|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MedGen:CN517202|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,5118832319118832319CT5:g.118832319C>TClinGen:CA3382045C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.951G>A (p.Thr317=)3295HSD17B4Conflicting interpretations of pathogenicityrs779198396RCV000732993|RCV001155976|RCV001155977|RCV001401487; NMedGen:CN517202|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Or5118832320118832320GANC_000005.9:g.118832320G>A-
NM_000414.4(HSD17B4):c.994C>T (p.Leu332Phe)3295HSD17B4Uncertain significancers370579120RCV000731048|RCV001061408|RCV001155978|RCV001155979; NMedGen:CN517202|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Or5118835033118835033CTNC_000005.9:g.118835033C>T-
NM_000414.4(HSD17B4):c.1016A>G (p.Tyr339Cys)3295HSD17B4Uncertain significance-1RCV001799545; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:28555118835055118835055AG118835055-
NM_000414.4(HSD17B4):c.1059G>A (p.Ala353=)3295HSD17B4Benignrs57972893RCV000217612|RCV000892227|RCV001157687|RCV001155980|RCV001697177; NMedGen:CN169374|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Or5118835098118835098GA5:g.118835098G>AClinGen:CA3382079CN169374 not specified;
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=)3295HSD17B4Conflicting interpretations of pathogenicityrs200347945RCV000291054|RCV000346085|RCV000728584|RCV001086922; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MedGen:CN517202|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orp5118835170118835170CTNC_000005.9:g.118835170C>TClinGen:CA3382094C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1210-78T>C3295HSD17B4Benign-1RCV001543959|RCV001543960|RCV001694071; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MedGen:CN5172025118837658118837658TC118837658-
NM_000414.4(HSD17B4):c.1210-11C>G3295HSD17B4Uncertain significancers779466683RCV000676080|RCV001250119; NMedGen:CN517202|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:28555118837725118837725CGNC_000005.9:g.118837725C>G-CN517202 not provided;
NM_000414.4(HSD17B4):c.1213C>T (p.Leu405Phe)3295HSD17B4Uncertain significancers746616691RCV000626126|RCV001157690|RCV001860472; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:28555118837739118837739CTNC_000005.9:g.118837739C>TClinGen:CA3382134C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1261+47A>G3295HSD17B4Benign-1RCV001543961|RCV001543962|RCV001713005; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MedGen:CN5172025118837834118837834AG118837834-
NM_000414.4(HSD17B4):c.1263A>G (p.Gly421=)3295HSD17B4Conflicting interpretations of pathogenicityrs764406724RCV001152210|RCV001157691|RCV002070846; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:3005118842514118842514AG5:g.118842514A>G-
NM_000414.4(HSD17B4):c.1333+1G>C3295HSD17B4Likely pathogenic-1RCV001726506; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:28555118842585118842585GC118842585-
NM_000414.4(HSD17B4):c.1357C>T (p.Leu453Phe)3295HSD17B4Uncertain significancers372898042RCV000311123|RCV000401151|RCV001037722; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:28555118844859118844859CTNC_000005.9:g.118844859C>TClinGen:CA3382212C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)3295HSD17B4Pathogenic/Likely pathogenicrs137853097RCV000008095|RCV000385297|RCV000477799|RCV000684773|RCV001002204; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MedGen:CN517202|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Orpha5118844871118844871AT5:g.118844871A>TClinGen:CA118961,UniProtKB:P51659#VAR_065908,OMIM:601860.0004C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1417C>T (p.Arg473Trp)3295HSD17B4Uncertain significancers201455193RCV000238819|RCV000351976|RCV000390048|RCV000733383|RCV000819185; NMedGen:CN169374|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MedGen:CN517202|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,O5118844919118844919CTNC_000005.9:g.118844919C>TClinGen:CA3382222C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr)3295HSD17B4Benign/Likely benignrs28943591RCV000175136|RCV000224951|RCV000298832|RCV000353669|RCV000509557|RCV001084433; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,5118850709118850709GA5:g.118850709G>AClinGen:CA201313,UniProtKB:P51659#VAR_052312C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys)3295HSD17B4Pathogenic/Likely pathogenicrs766199971RCV000590157|RCV000763126|RCV001220352; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO5118860923118860923CT5:g.118860923C>TClinGen:CA3382299C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg)3295HSD17B4Benignrs11539471RCV000214252|RCV000263505|RCV000299859|RCV000676082|RCV001517002; NMedGen:CN169374|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MedGen:CN517202|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342875118860938118860938TCNC_000005.9:g.118860938T>CClinGen:CA3382302,UniProtKB:P51659#VAR_014873C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1537C>A (p.Pro513Thr)3295HSD17B4Conflicting interpretations of pathogenicity-1RCV001387757|RCV001810508; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:28555118860944118860944CA118860944-
NM_000414.4(HSD17B4):c.1538C>T (p.Pro513Leu)3295HSD17B4Uncertain significancers587777444RCV000125467|RCV000675096; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:3005118860945118860945CTNC_000005.9:g.118860945C>TClinGen:CA163185,OMIM:601860.0012C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr)3295HSD17B4Likely pathogenicrs587777443RCV000125466|RCV000672665|RCV000825530|RCV001849905; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MedGen:CN826980, Orphanet:96210|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C03428705118860954118860954TCNC_000005.9:g.118860954T>CClinGen:CA163183,OMIM:601860.0011C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg)3295HSD17B4Conflicting interpretations of pathogenicityrs184492796RCV000217919|RCV000264639|RCV000359350|RCV000906457|RCV001580473; NMedGen:CN169374|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Or5118860973118860973TANC_000005.9:g.118860973T>AClinGen:CA3382309C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1596T>C (p.His532=)3295HSD17B4Conflicting interpretations of pathogenicityrs758045328RCV000324422|RCV000379389|RCV000608795|RCV000977055; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MedGen:CN169374|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orp5118861634118861634TCNC_000005.9:g.118861634T>CClinGen:CA3382336C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro)3295HSD17B4Uncertain significancers201009485RCV000125468|RCV000730879|RCV001849906; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MedGen:CN517202|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:3005118861666118861666GCNC_000005.9:g.118861666G>CClinGen:CA163187,OMIM:601860.0013C0685838 233400 Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance;
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His)3295HSD17B4Uncertain significancers201009485RCV000270907|RCV000326000|RCV001298354; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:28555118861666118861666GANC_000005.9:g.118861666G>AClinGen:CA3382344C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val)3295HSD17B4Benignrs11205RCV000221678|RCV000290935|RCV000385277|RCV000676084|RCV001517003; NMedGen:CN169374|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MedGen:CN517202|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342875118861713118861713AG5:g.118861713A>GClinGen:CA3382348,UniProtKB:P51659#VAR_014874C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1683T>C (p.Ala561=)3295HSD17B4Uncertain significancers1239645507RCV001156099|RCV001156100; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:28555118862830118862830TC5:g.118862830T>C-
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter)3295HSD17B4Pathogenicrs1038744864RCV000023153|RCV000811384|RCV001260323|RCV001556667; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MedGe5118862851118862851TA5:g.118862851T>AOMIM:601860.0009
NM_000414.4(HSD17B4):c.1767G>A (p.Lys589=)3295HSD17B4Likely pathogenic-1RCV001728013; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:28555118862914118862914GA118862914-
NM_000414.4(HSD17B4):c.1767+4T>C3295HSD17B4Uncertain significance-1RCV001733794; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:28555118862918118862918TC118862918-
NM_000414.4(HSD17B4):c.1767+8T>C3295HSD17B4Benign/Likely benignrs190659146RCV000176034|RCV000350538|RCV000386369|RCV000676085|RCV001080069; NMedGen:CN169374|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MedGen:CN517202|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342875118862922118862922TC5:g.118862922T>CClinGen:CA201765C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1767+57C>T3295HSD17B4Benign-1RCV001543716|RCV001543717|RCV001685474; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MedGen:CN5172025118862971118862971CT118862971-
NM_000414.4(HSD17B4):c.1791C>T (p.Val597=)3295HSD17B4Benignrs2560722RCV000213396|RCV000335535|RCV000296714|RCV000676086|RCV001084092; NMedGen:CN169374|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MedGen:CN517202|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,O5118865612118865612CTNC_000005.9:g.118865612C>TClinGen:CA3382404C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1854+7T>C3295HSD17B4Uncertain significancers886059822RCV000300470|RCV000400714; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:3005118865682118865682TCNC_000005.9:g.118865682T>CClinGen:CA10618809C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1876T>G (p.Phe626Val)3295HSD17B4Uncertain significance-1RCV001563844|RCV001563845; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:28555118866982118866982TG118866982-
NM_000414.4(HSD17B4):c.1929G>A (p.Val643=)3295HSD17B4Conflicting interpretations of pathogenicityrs148189286RCV000762156|RCV001157788|RCV001157789|RCV001089341; NMedGen:CN517202|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orp5118867035118867035GANC_000005.9:g.118867035G>A-
NM_000414.4(HSD17B4):c.1934A>C (p.Lys645Thr)3295HSD17B4Uncertain significancers368915056RCV001157790|RCV001157791; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:3005118867040118867040AC5:g.118867040A>C-
NM_000414.4(HSD17B4):c.1993+74G>C3295HSD17B4Benign-1RCV001543718|RCV001543719|RCV001694065; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MedGen:CN5172025118867173118867173GC118867173-
NM_000414.4(HSD17B4):c.2025G>A (p.Val675=)3295HSD17B4Conflicting interpretations of pathogenicityrs763204818RCV000336683|RCV000401438|RCV001407465; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:28555118872149118872149GANC_000005.9:g.118872149G>AClinGen:CA3382496C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.2033G>A (p.Gly678Asp)3295HSD17B4Uncertain significancers1456658488RCV001152311|RCV001157792; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:3005118872157118872157GA5:g.118872157G>A-
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile)3295HSD17B4Benignrs28943592RCV000218324|RCV000301707|RCV000361158|RCV000966445|RCV001079319; NMedGen:CN169374|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MedGen:CN517202|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,O5118872184118872184CT5:g.118872184C>TClinGen:CA3382504,UniProtKB:P51659#VAR_052314C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter)3295HSD17B4Conflicting interpretations of pathogenicityrs771510541RCV000671728|RCV001644761; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:28555118872240118872240CT5:g.118872240C>T-C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.2122-34C>T3295HSD17B4Benign-1RCV001536466|RCV001543720|RCV001543721; NMedGen:CN517202|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:28555118877566118877566CT118877566-
NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val)3295HSD17B4Benignrs28943594RCV000221985|RCV000268330|RCV000307098|RCV000676087|RCV001082359; NMedGen:CN169374|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MedGen:CN517202|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,O5118877660118877660AGNC_000005.9:g.118877660A>GClinGen:CA3382539,UniProtKB:P51659#VAR_052315C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.2199C>T (p.Tyr733=)3295HSD17B4Benignrs12714RCV000214457|RCV000271748|RCV000364059|RCV000676088|RCV000543911; NMedGen:CN169374|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MedGen:CN517202|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,O5118877677118877677CT5:g.118877677C>TClinGen:CA3382543C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.*6A>G3295HSD17B4Benignrs111671384RCV000213852|RCV000329156|RCV000367413|RCV000676089; NMedGen:CN169374|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MedGen:CN5172025118877695118877695AGNC_000005.9:g.118877695A>GClinGen:CA3382547C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.*83T>G3295HSD17B4Likely benignrs181310520RCV000275095|RCV000332622; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:3005118877772118877772TGNC_000005.9:g.118877772T>GClinGen:CA10622299C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.*123A>G3295HSD17B4Uncertain significancers956800775RCV001153596|RCV001153597; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:28555118877812118877812AG5:g.118877812A>G-
NM_000414.4(HSD17B4):c.*134C>T3295HSD17B4Uncertain significancers543194892RCV000278470|RCV000389434; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:3005118877823118877823CTNC_000005.9:g.118877823C>TClinGen:CA10618815C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.*135T>G3295HSD17B4Conflicting interpretations of pathogenicityrs185522709RCV000317273|RCV000374259; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:28555118877824118877824TGNC_000005.9:g.118877824T>GClinGen:CA10618825C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.*260A>G3295HSD17B4Benignrs28943596RCV000342895|RCV000399661|RCV001718749; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MedGen:CN5172025118877949118877949AGNC_000005.9:g.118877949A>GClinGen:CA10622300C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.*278T>A3295HSD17B4Conflicting interpretations of pathogenicityrs149665666RCV000307438|RCV000364528|RCV001577125; NMONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MedGen:CN5172025118877967118877967TANC_000005.9:g.118877967T>AClinGen:CA10622284C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_014672.4(PRORP):c.1235A>G (p.Asn412Ser)9692PRORPPathogenic/Likely pathogenic-1RCV001868407|RCV001868406|RCV001825014; NHuman Phenotype Ontology:HP:0011474,MedGen:C4023340|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MedGen:CN306409,OMIM:619737143564994335649943AG35649943OMIM:609947.0002
NM_014672.4(PRORP):c.1454C>T (p.Ala485Val)9692PRORPPathogenic/Likely pathogenicrs1169927428RCV000855453|RCV001824882; NMONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855|MedGen:CN306409,OMIM:619737143573963635739636CT14:g.35739636C>TOMIM:609947.0001
MSeqDR Portal