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:
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Dwarfism, Pituitary (D004393)
Parent Node:
expand
Hearing Loss, Sensorineural (D006319)
..Starting node
..expand
Winkelman Bethge Pfeiffer syndrome (C536710)

       Child Nodes:



 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:12862
Name:Winkelman Bethge Pfeiffer syndrome
Definition:
Alternative IDs:OMIM:221750
ParentIDs:MESH:D004393|MESH:D006319
TreeNumbers:C05.116.099.343.445/C536710 |C05.116.132.358/C536710 |C09.218.458.341.887/C536710 |C10.228.140.617.738.300.300/C536710 |C10.597.751.418.341.887/C536710 |C19.297.312/C536710 |C19.700.482.311/C536710 |C23.888.592.763.393.341.887/C536710
Synonyms:CPHD3 |Deafness, Sensorineural, With Pituitary Dwarfism |Pituitary Hormone Deficiency, Combined, 3 |Pituitary Hormone Deficiency, Combined, With Rigid Cervical Spine |Sensorineural deafness with Pituitary dwarfism
Slim Mappings:Ear-nose-throat disease|Endocrine system disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C536710
MeSH: C536710
OMIM: 221750;
MSeqDR LSDB:  
Genes: LHX3;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0010627Anterior pituitary hypoplasia
3 HP:0008213Gonadotropin deficiency
4 HP:0000824Growth hormone deficiency
5 HP:0001249Intellectual disability
6 HP:0000839Pituitary dwarfism
7 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
8 HP:0000470Short neck
9 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_178138.6(LHX3):c.*1063C>T8022LHX3Uncertain significance1564280053RCV001166552; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390881081390881089:g.139088108G>A-
NM_178138.6(LHX3):c.*1031A>G8022LHX3Uncertain significance569655668RCV000334275; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139088140139088140NC_000009.11:g.139088140T>CClinGen:CA10629532CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.*956C>T8022LHX3Uncertain significance886063695RCV000408118; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139088215139088215NC_000009.11:g.139088215G>AClinGen:CA10629533CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.*857C>T8022LHX3Uncertain significance886063696RCV000313493; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139088314139088314NC_000009.11:g.139088314G>AClinGen:CA10632948CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.*825C>A8022LHX3Benign3739470RCV000368070; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139088346139088346NC_000009.11:g.139088346G>TClinGen:CA10626864CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.*791G>A8022LHX3Likely benign12237402RCV000390822; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139088380139088380NC_000009.11:g.139088380C>TClinGen:CA10629534CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.*790C>T8022LHX3Uncertain significance572411652RCV000310086; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139088381139088381NC_000009.11:g.139088381G>AClinGen:CA10633217CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.*780C>T8022LHX3Uncertain significance4842130RCV001168296; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390883911390883919:g.139088391G>A-
NM_178138.6(LHX3):c.*773G>A8022LHX3Uncertain significance148781569RCV000364718; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139088398139088398NC_000009.11:g.139088398C>TClinGen:CA10626867CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.*747C>G8022LHX3Likely benign146752425RCV001168297; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390884241390884249:g.139088424G>C-
NM_178138.6(LHX3):c.*719C>T8022LHX3Uncertain significance1831495385RCV001168298; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390884521390884529:g.139088452G>A-
NM_178138.6(LHX3):c.*715C>A8022LHX3Uncertain significance1831495471RCV001169027; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390884561390884569:g.139088456G>T-
NM_178138.6(LHX3):c.*692C>T8022LHX3Uncertain significance1831495899RCV001169028; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390884791390884799:g.139088479G>A-
NM_178138.6(LHX3):c.*638G>T8022LHX3Uncertain significance374699388RCV000270199; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139088533139088533NC_000009.11:g.139088533C>AClinGen:CA10632949CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.*637T>C8022LHX3Uncertain significance191713062RCV001169029; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390885341390885349:g.139088534A>G-
NM_178138.6(LHX3):c.*582G>A8022LHX3Uncertain significance879304888RCV000325305; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139088589139088589NC_000009.11:g.139088589C>TClinGen:CA10626876CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.*570C>A8022LHX3Uncertain significance1588623321RCV001169030; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390886011390886019:g.139088601G>T-
NM_178138.6(LHX3):c.*554C>T8022LHX3Uncertain significance886063697RCV000361374; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139088617139088617NC_000009.11:g.139088617G>AClinGen:CA10632953CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.*518G>A8022LHX3Uncertain significance545939943RCV001169031; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390886531390886539:g.139088653C>T-
NM_178138.6(LHX3):c.*517C>T8022LHX3Uncertain significance369945393RCV001166128; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390886541390886549:g.139088654G>A-
NM_178138.6(LHX3):c.*501A>T8022LHX3Uncertain significance886063698RCV000266954; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139088670139088670NC_000009.11:g.139088670T>AClinGen:CA10632954CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.*456G>A8022LHX3Uncertain significance150382420RCV001166129; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390887151390887159:g.139088715C>T-
NM_178138.6(LHX3):c.*437G>A8022LHX3Uncertain significance1013764402RCV001166130; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390887341390887349:g.139088734C>T-
NM_178138.6(LHX3):c.*409G>T8022LHX3Uncertain significance886063699RCV000322062; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139088762139088762NC_000009.11:g.139088762C>AClinGen:CA10629536CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.*403T>C8022LHX3Uncertain significance919677270RCV001166131; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390887681390887689:g.139088768A>G-
NM_178138.6(LHX3):c.*357G>A8022LHX3Uncertain significance886063700RCV000376654; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139088814139088814NC_000009.11:g.139088814C>TClinGen:CA10626877CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.*309C>T8022LHX3Uncertain significance1040969252RCV001166132; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390888621390888629:g.139088862G>A-
NM_178138.6(LHX3):c.*237G>A8022LHX3Uncertain significance1252042714RCV001166614; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390889341390889349:g.139088934C>T-
NM_178138.6(LHX3):c.*185T>A8022LHX3Benign144976921RCV000280927; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139088986139088986NC_000009.11:g.139088986A>TClinGen:CA10626878CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.*161C>A8022LHX3Uncertain significance886063701RCV000317332; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139089010139089010NC_000009.11:g.139089010G>TClinGen:CA10629539CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.*140G>A8022LHX3Uncertain significance1181863841RCV001166615; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390890311390890319:g.139089031C>T-
NM_178138.6(LHX3):c.*55G>A8022LHX3Uncertain significance543364659RCV000296177; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139089116139089116NC_000009.11:g.139089116C>TClinGen:CA10633218CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.*32G>A8022LHX3Uncertain significance771392788RCV000350909; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139089139139089139NC_000009.11:g.139089139C>TClinGen:CA5330227CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.*31C>G8022LHX3Uncertain significance776792156RCV001166616; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390891401390891409:g.139089140G>C-
NM_178138.6(LHX3):c.*9C>T8022LHX3Uncertain significance369623778RCV000390232; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139089162139089162NC_000009.11:g.139089162G>AClinGen:CA5330237CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.1092C>T (p.Asn364=)8022LHX3Conflicting interpretations of pathogenicity886063702RCV000292515|RCV001437445; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:CN5172029139089273139089273NC_000009.11:g.139089273G>AClinGen:CA10629543CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.1092C>A (p.Asn364Lys)8022LHX3Uncertain significance886063702RCV001168364; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390892731390892739:g.139089273G>T-
NM_178138.6(LHX3):c.1024A>G (p.Thr342Ala)8022LHX3Uncertain significance1260618703RCV001168365; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390893411390893419:g.139089341T>C-
NM_178138.6(LHX3):c.1003T>C (p.Ser335Pro)8022LHX3Uncertain significance-1RCV003134053; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139089362139089362NC_000009.11:g.139089362A>G-
NM_178138.6(LHX3):c.966C>T (p.Ala322=)8022LHX3Conflicting interpretations of pathogenicity551180434RCV001168366|RCV001439572; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:C366190091390893991390893999:g.139089399G>A-
NM_178138.6(LHX3):c.964G>A (p.Ala322Thr)8022LHX3Conflicting interpretations of pathogenicity201356862RCV000968854|RCV001168367; NMedGen:C3661900|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390894011390894019:g.139089401C>TClinGen:CA5330282CN169374 not specified;
NM_178138.6(LHX3):c.929G>C (p.Arg310Pro)8022LHX3Conflicting interpretations of pathogenicity201591640RCV000179482|RCV000391104|RCV002516793|RCV003235100; NMedGen:CN517202|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MeSH:D030342,MedGen:C0950123|MedGen:CN16937491390894361390894369:g.139089436C>GClinGen:CA246743CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.920G>C (p.Arg307Pro)8022LHX3Conflicting interpretations of pathogenicity182345541RCV000302742|RCV000766051|RCV001273808; NMedGen:C3661900|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038, Orphanet:9549491390894451390894459:g.139089445C>GClinGen:CA5330291CN169374 not specified;
NM_178138.6(LHX3):c.919C>A (p.Arg307=)8022LHX3Likely benign145867977RCV000982485|RCV001273809|RCV002503135; NMedGen:CN517202|MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038, Orphanet:95494|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390894461390894469:g.139089446G>T-
NM_178138.6(LHX3):c.915G>A (p.Gln305=)8022LHX3Conflicting interpretations of pathogenicity548140963RCV000944364|RCV001273810|RCV001168368; NMedGen:C3661900|MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038, Orphanet:95494|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390894501390894509:g.139089450C>T-
NM_178138.6(LHX3):c.860C>T (p.Ser287Leu)8022LHX3Uncertain significance748322395RCV000307500|RCV003362772; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MeSH:D030342,MedGen:C09501239139089505139089505NC_000009.11:g.139089505G>AClinGen:CA5330306CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.812G>A (p.Gly271Asp)8022LHX3Uncertain significance758724505RCV001169115|RCV002558678|RCV002558679; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MeSH:D030342,MedGen:C0950123|MedGen:CN51720291390895531390895539:g.139089553C>T-
NM_178138.6(LHX3):c.804G>C (p.Pro268=)8022LHX3Conflicting interpretations of pathogenicity771201500RCV000941266|RCV001169116; NMedGen:CN517202|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390895611390895619:g.139089561C>G-
NM_178138.6(LHX3):c.776-15C>A8022LHX3Conflicting interpretations of pathogenicity376405589RCV000362167|RCV002058784; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:CN5172029139089604139089604NC_000009.11:g.139089604G>TClinGen:CA5330342CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.776-90C>T8022LHX3Benign7860634RCV001544004|RCV001647394; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:C36619009139089679139089679139089679-
NM_178138.6(LHX3):c.80-530_776-454del8022LHX3Pathogenic-1RCV000009594; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139090043139093129NC_000009.11:g.139090048_139093134delClinGen:CA250574,dbVar:nssv3761573,OMIM:600577.0008C3489787 221750 Pituitary hormone deficiency, combined 3;
NM_178138.6(LHX3):c.737A>G (p.Gln246Arg)8022LHX3Uncertain significance886063704RCV000391108; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139090536139090536NC_000009.11:g.139090536T>CClinGen:CA10633219CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.672G>A (p.Trp224Ter)8022LHX3Pathogenic137854505RCV000009593; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390906011390906019:g.139090601C>TClinGen:CA250572,OMIM:600577.0007C3489787 221750 Pituitary hormone deficiency, combined 3;
NM_178138.6(LHX3):c.607-3_630del8022LHX3Likely pathogenic969810391RCV001378438|RCV001826139; NMedGen:C3661900|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139090643139090669139090642-
NM_178138.6(LHX3):c.629C>T (p.Ala210Val)8022LHX3Pathogenic137854503RCV000009590; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390906441390906449:g.139090644G>AClinGen:CA250570,UniProtKB:Q9UBR4#VAR_063240,OMIM:600577.0004C3489787 221750 Pituitary hormone deficiency, combined 3;
NM_178138.6(LHX3):c.622C>T (p.Arg208Cys)8022LHX3Uncertain significance1280467564RCV001169117; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390906511390906519:g.139090651G>A-
NM_178138.6(LHX3):c.597C>T (p.Arg199=)8022LHX3Conflicting interpretations of pathogenicity369145566RCV001458383|RCV001169118; NMedGen:CN517202|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390907631390907639:g.139090763G>A-
NM_178138.6(LHX3):c.582G>C (p.Thr194=)8022LHX3Likely benign759590430RCV000901149|RCV001830965; NMedGen:CN517202|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390907781390907789:g.139090778C>G-
NM_178138.6(LHX3):c.581C>G (p.Thr194Arg)8022LHX3Likely pathogenic2131032901RCV001837058; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139090779139090779139090779-
NM_178138.6(LHX3):c.534C>T (p.Thr178=)8022LHX3Likely benign564712080RCV000921222|RCV001832079; NMedGen:C3661900|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390908261390908269:g.139090826G>A-
NM_178138.6(LHX3):c.454+64C>T8022LHX3Benign2274114RCV001544005|RCV001694073; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:C36619009139091460139091460139091460-
NM_178138.6(LHX3):c.452_454+20del8022LHX3Pathogenic587776711RCV000009588; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139091504139091526NC_000009.11:g.139091506_139091528delClinGen:CA250568,OMIM:600577.0002
NM_178138.6(LHX3):c.454+3C>T8022LHX3Benign/Likely benign34356735RCV000304131|RCV000602280|RCV001274345|RCV001523724; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:CN169374|MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038, Orphanet:95494|MedGen:C36619009139091521139091521NC_000009.11:g.139091521G>AClinGen:CA5330499CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.441C>T (p.Thr147=)8022LHX3Conflicting interpretations of pathogenicity200521449RCV000358940|RCV000933477|RCV001271733; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:CN517202|MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038, Orphanet:954949139091537139091537NC_000009.11:g.139091537G>AClinGen:CA5330504CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.413G>T (p.Arg138Leu)8022LHX3Uncertain significance374047783RCV001166193; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390915651390915659:g.139091565C>A-
NM_178138.6(LHX3):c.354C>A (p.Cys118Ter)8022LHX3Pathogenic-1RCV003152945; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139091624139091624-
NM_178138.6(LHX3):c.332A>G (p.Tyr111Cys)8022LHX3Pathogenic104894117RCV000009587; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390916461390916469:g.139091646T>CClinGen:CA250566,UniProtKB:Q9UBR4#VAR_010713,OMIM:600577.0001C3489787 221750 Pituitary hormone deficiency, combined 3;
NM_178138.6(LHX3):c.287_288delinsTCCT (p.Gly96fs)8022LHX3Pathogenic137854504RCV000009591; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390916901390916919:g.139091690_139091691insGGAClinGen:CA250571,OMIM:600577.0005C3489787 221750 Pituitary hormone deficiency, combined 3;
NM_178138.6(LHX3):c.280C>T (p.Gln94Ter)8022LHX3Likely pathogenic2131034777RCV001782383; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139091698139091698139091698-
NM_178138.6(LHX3):c.252-4G>T8022LHX3Conflicting interpretations of pathogenicity372058376RCV000603094|RCV000910483|RCV001166194; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390917301390917309:g.139091730C>AClinGen:CA5330539CN169374 not specified;
NM_178138.6(LHX3):c.251+148T>C8022LHX3Benign1886296RCV001544006|RCV001709734; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:C36619009139092280139092280139092280-
NM_178138.6(LHX3):c.251+30G>A8022LHX3Benign75290716RCV001544007|RCV001707903; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:C36619009139092398139092398139092398-
NM_178138.6(LHX3):c.251+9C>T8022LHX3Conflicting interpretations of pathogenicity569254423RCV000930862|RCV001274346|RCV001166195; NMedGen:C3661900|MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038, Orphanet:95494|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390924191390924199:g.139092419G>A-
NM_178138.6(LHX3):c.214C>T (p.Arg72Ter)8022LHX3Pathogenic774533927RCV001386141|RCV001831393; NMedGen:C3661900|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139092465139092465139092465-
NM_178138.6(LHX3):c.198C>G (p.Ala66=)8022LHX3Conflicting interpretations of pathogenicity190916587RCV000385783|RCV001166196; NMedGen:C3661900|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390924811390924819:g.139092481G>CClinGen:CA5330590CN169374 not specified;
NM_178138.6(LHX3):c.145C>T (p.Arg49Cys)8022LHX3Uncertain significance781049722RCV000264184; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139092534139092534NC_000009.11:g.139092534G>AClinGen:CA5330597CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.133A>T (p.Lys45Ter)8022LHX3Pathogenic137854506RCV000009595; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390925461390925469:g.139092546T>AClinGen:CA250575,OMIM:600577.0009C3489787 221750 Pituitary hormone deficiency, combined 3;
NM_178138.6(LHX3):c.112A>G (p.Ile38Val)8022LHX3Uncertain significance1341469393RCV000723285; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139092567139092567NC_000009.11:g.139092567T>C-
NM_178138.6(LHX3):c.108G>A (p.Gln36=)8022LHX3Benign/Likely benign33998096RCV001166197|RCV001523725; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:C366190091390925711390925719:g.139092571C>TClinGen:CA5330600CN169374 not specified;
NM_178138.6(LHX3):c.96del (p.Gly33fs)8022LHX3Pathogenic587776712RCV000009589; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139092583139092583NC_000009.11:g.139092583delClinGen:CA250569,OMIM:600577.0003C3489787 221750 Pituitary hormone deficiency, combined 3;
NM_178138.6(LHX3):c.93_95dup (p.Ala32dup)8022LHX3Uncertain significance2131036367RCV001376122; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139092583139092584139092583-
NM_178138.6(LHX3):c.94G>A (p.Ala32Thr)8022LHX3Uncertain significance201187873RCV001548466|RCV001827456; NMedGen:C3661900|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139092585139092585139092585-
NM_178138.6(LHX3):c.93C>T (p.Cys31=)8022LHX3Likely benign558712702RCV000929863|RCV001832111; NMedGen:C3661900|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390925861390925869:g.139092586G>A-
NM_178138.6(LHX3):c.87G>A (p.Pro29=)8022LHX3Likely benign183980824RCV000975245|RCV001827063; NMedGen:C3661900|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390925921390925929:g.139092592C>T-
NM_178138.6(LHX3):c.80-2A>G8022LHX3Pathogenic2131036410RCV001382375|RCV001826161; NMedGen:C3661900|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139092601139092601139092601-
NM_178138.6(LHX3):c.80-10G>A8022LHX3Uncertain significance555766551RCV000354767|RCV002480025; NMedGen:C3661900|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390926091390926099:g.139092609C>TClinGen:CA5330608CN169374 not specified;
NM_178138.6(LHX3):c.79+2007T>C8022LHX3Benign2274115RCV000173439|RCV001543751|RCV001721101; NMedGen:CN169374|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:C366190091390947731390947739:g.139094773A>GClinGen:CA200531CN169374 not specified;
NM_178138.6(LHX3):c.79+1975G>A8022LHX3Benign2274116RCV000173438|RCV000319285|RCV001272769|RCV001521616; NMedGen:CN169374|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038, Orphanet:95494|MedGen:C366190091390948051390948059:g.139094805C>TClinGen:CA200529CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.79+1967C>A8022LHX3Conflicting interpretations of pathogenicity759584117RCV000356105|RCV002524592; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:CN5172029139094813139094813NC_000009.11:g.139094813G>TClinGen:CA5330625CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.79+1935C>G8022LHX3Conflicting interpretations of pathogenicity769912904RCV000880647|RCV001166692|RCV001274347; NMedGen:CN517202|MONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038, Orphanet:9549491390948451390948459:g.139094845G>C-
NM_178138.6(LHX3):c.79+1927G>A8022LHX3Conflicting interpretations of pathogenicity1831682631RCV001166693|RCV002068021; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:CN51720291390948531390948539:g.139094853C>T-
NM_178138.6(LHX3):c.79+1904C>T8022LHX3Uncertain significance1021046718RCV001166694|RCV001279531|RCV003163366; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038, Orphanet:95494|MeSH:D030342,MedGen:C095012391390948761390948769:g.139094876G>A-
NM_178138.6(LHX3):c.79+1902C>T8022LHX3Conflicting interpretations of pathogenicity375579333RCV000766052|RCV000915896|RCV001274348|RCV003151004; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:231720|MedGen:C3661900|MONDO:MONDO:0013099,MedGen:C4273747,OMIM:PS613038, Orphanet:95494|MedGen:CN16937491390948781390948789:g.139094878G>AClinGen:CA5330627CN169374 not specified;
NM_178138.6(LHX3):c.79+1888G>A8022LHX3Uncertain significance1188545118RCV001166695; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390948921390948929:g.139094892C>T-
NM_178138.6(LHX3):c.79+1862A>G8022LHX3Uncertain significance886063705RCV000261280; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139094918139094918NC_000009.11:g.139094918T>CClinGen:CA10629558CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.79+1829G>A8022LHX3Uncertain significance551389075RCV000316576; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:2317209139094951139094951NC_000009.11:g.139094951C>TClinGen:CA10633222CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.79+1814G>T8022LHX3Likely benign569646536RCV000389808; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390949661390949669:g.139094966C>AClinGen:CA10626879CN239344 Combined Pituitary Hormone Deficiency, Recessive;
NM_178138.6(LHX3):c.79+1813G>C8022LHX3Uncertain significance886063706RCV000276382; NMONDO:MONDO:0009091,MedGen:C3489787,OMIM:221750, Orphanet:23172091390949671390949679:g.139094967C>GClinGen:CA10629561CN239344 Combined Pituitary Hormone Deficiency, Recessive;
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