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
Abnormalities, Multiple (D000015)
Parent Node:
expand
Osteochondrodysplasias (D010009)
Parent Node:
expand
Polydactyly (D017689)
..Starting node
..expand
Short Rib-Polydactyly Syndrome (D012779)

       Child Nodes:
........expandShort rib-polydactyly syndrome, Beemer type (C537599)
........expandShort rib-polydactyly syndrome, Verma-Naumoff type (C537602) Child1



 Sister Nodes: 
..expandAbsence of tibia with polydactyly (C535564)
..expandBiemond syndrome II (C565902)
..expandBrachyphalangy, polydactyly, and tibial aplasia-hypoplasia (C537100)
..expandCortical Blindness, Retardation, and Postaxial Polydactyly (C565674)
..expandCrossed Polydactyly, Type I (C566783)
..expandDandy Walker malformation postaxial polydactyly (C535771)
..expandDesbuquois syndrome (C535943)
..expandEctodermal dysplasia alopecia preaxial polydactyly (C538016)
..expandEctodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet (C565067)
..expandGarret Tripp syndrome (C535646)
..expandHirschsprung disease polydactyly heart disease (C538120)
..expandHirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817)
..expandHirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
..expandHirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect (C565517)
..expandHoloprosencephaly 9 (C563659)
..expandHydrolethalus Syndrome 1 (C565504)
..expandKozlowski-Krajewska syndrome (C537615)
..expandLaurence Prosser Rocker syndrome (C537882)
..expandLiver Fibrocystic Disease and Polydactyly (C565272)
..expandMaroteaux Fonfria syndrome (C536023)
..expandMcKusick Kaufman syndrome (C538159)
..expandMeckel Syndrome, Type 4 (C567003)
..expandMeckel-Like Cerebrorenodigital Syndrome (C567004)
..expandMegalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome (C566381)
..expandMexican Cardiomelic Dysplasia (C563087)
..expandOliver Syndrome (C564931)
..expandPallister-Hall Syndrome (D054975)
..expandPfeiffer Mayer syndrome (C537888)
..expandPolydactyly myopia syndrome (C536331)
..expandPolydactyly preaxial type 1 (C536332)
..expandPolydactyly, Postaxial (C562429)
..expandPolydactyly, Postaxial, Type A2 (C566585)
..expandPolydactyly, Postaxial, Type A3 (C564590)
..expandPolydactyly, Postaxial, Type A4 (C563909)
..expandPolydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..expandPolydactyly, preaxial 4 (C536333)
..expandPOLYDACTYLY, PREAXIAL II (OMIM:174500)
..expandPolydactyly, Preaxial III (C566784)
..expandPolysyndactyly, Crossed (C566773)
..expandPreaxial deficiency, postaxial polydactyly and hypospadias (C538278)
..expandPreaxial Hallucal Polydactyly (C566632)
..expandPseudotrisomy 13 syndrome (C535829)
..expandSantos Mateus Leal syndrome (C537235)
..expandSantos Syndrome (C567819)
..expandScalp defects postaxial polydactyly (C536622)
..expandShort Rib-Polydactyly Syndrome (D012779) Child3
..expandSPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY (OMIM:616890)
..expandSyndactyly, Type IV (C566092)
..expandSyndactyly-Polydactyly-Earlobe Syndrome (C566091)
..expandSynpolydactyly 2 (C564278)
..expandSynpolydactyly 3 (C565216)
..expandSynpolydactyly With Foot Anomalies (C566095)
..expandThai Symphalangism Syndrome (C564303)
..expandTibia absent polydactyly arachnoid cyst (C536918)
..expandTibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies (C563403)
..expandTibia, Hypoplasia of, with Polydactyly (C566046)
..expandUlnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia (C565783)
..expandUrioste Martinez-Frias syndrome (C536478)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:11196
Name:Short Rib-Polydactyly Syndrome
Definition:A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly.
Alternative IDs:OMIM:263520|OMIM:266920|OMIM:613819|OMIM:614091|OMIM:615503|OMIM:615630|OMIM:615633|OMIM:616300|OMIM
ParentIDs:MESH:D000015|MESH:D010009|MESH:D017689
TreeNumbers:C05.116.099.708.857 |C05.660.585.600.750 |C16.131.077.850 |C16.131.621.585.600.750
Synonyms:Asphyxiating Thoracic Dystrophy 3 |ASPHYXIATING THORACIC DYSTROPHY 4 |ATD4 |CONORENAL SYNDROME |MAINZER-SALDINO SYNDROME |Majewski Syndrome |MZSDS |Polydactyly with Neonatal Chondrodystrophy, Type 1 |Polydactyly with Neonatal Chondrodystrophy, Type 2 |Polydactyly
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: D012779
MeSH: D012779
OMIM: 613819;
MSeqDR LSDB:  
Genes: CEP120; IFT140; IFT172; NEK1; TTC21B; WDR34; WDR35; WDR60;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000774Narrow chest
3 HP:0000546Retinal degeneration
4 HP:0003026Short long bone
5 HP:0000773Short ribs
6 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_024753.5(TTC21B):c.*1225C>T79809TTC21BLikely benign-1RCV001130155|RCV001130156; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166730040166730040GA2:g.166730040G>A-
NM_024753.5(TTC21B):c.*1117A>G79809TTC21BUncertain significance-1RCV001130157|RCV001130158; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166730148166730148TC2:g.166730148T>C-
NM_024753.5(TTC21B):c.*1107A>G79809TTC21BUncertain significance-1RCV001130159|RCV001130160; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166730158166730158TC2:g.166730158T>C-
NM_024753.5(TTC21B):c.*1105G>T79809TTC21BBenignrs6756388RCV000302260|RCV000341077; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166730160166730160CA2:g.166730160C>AClinGen:CA10611145
NM_024753.5(TTC21B):c.*1104G>A79809TTC21BUncertain significance-1RCV001130861|RCV001130862; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166730161166730161CT2:g.166730161C>T-
NM_024753.5(TTC21B):c.*1087A>T79809TTC21BLikely benignrs150328867RCV000310656|RCV000393914; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166730178166730178TA2:g.166730178T>AClinGen:CA10612715
NM_024753.5(TTC21B):c.*974C>G79809TTC21BBenign-1RCV001130863|RCV001130864; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166730291166730291GC2:g.166730291G>C-
NM_024753.5(TTC21B):c.*926C>A79809TTC21BUncertain significance-1RCV001133835|RCV001133836; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166730339166730339GT2:g.166730339G>T-
NM_024753.5(TTC21B):c.*910C>T79809TTC21BUncertain significancers745335688RCV000270951|RCV000362974; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166730355166730355GA2:g.166730355G>AClinGen:CA10612716
NM_024753.5(TTC21B):c.*878A>G79809TTC21BBenignrs62177807RCV000314395|RCV000371240; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166730387166730387TC2:g.166730387T>CClinGen:CA10611146
NM_024753.5(TTC21B):c.*847A>C79809TTC21BLikely benignrs138656848RCV000274449|RCV000330797; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166730418166730418TG2:g.166730418T>GClinGen:CA10611525
NM_024753.5(TTC21B):c.*730A>C79809TTC21BUncertain significancers886055021RCV000262835|RCV000373761; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166730535166730535TG2:g.166730535T>GClinGen:CA10612718
NM_024753.5(TTC21B):c.*681G>A79809TTC21BUncertain significance-1RCV001135331|RCV001135332; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166730584166730584CT2:g.166730584C>T-
NM_024753.5(TTC21B):c.*680C>T79809TTC21BUncertain significancers746664114RCV000315737|RCV000372730; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166730585166730585GA2:g.166730585G>AClinGen:CA10611150
NM_024753.5(TTC21B):c.*656G>A79809TTC21BLikely benignrs180737925RCV000286088|RCV000324691; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166730609166730609CT2:g.166730609C>TClinGen:CA10611151C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.*642C>T79809TTC21BUncertain significancers547612425RCV000284735|RCV000376921; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166730623166730623GA2:g.166730623G>AClinGen:CA10612449C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.*593G>A79809TTC21BUncertain significancers886055022RCV000346750|RCV000401625; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166730672166730672CT2:g.166730672C>TClinGen:CA10611528C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.*544A>G79809TTC21BUncertain significancers565605248RCV000288243|RCV000345381; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166730721166730721TC2:g.166730721T>CClinGen:CA10611531C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.*540T>C79809TTC21BUncertain significancers534739269RCV000315092|RCV000407455; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166730725166730725AG2:g.166730725A>GClinGen:CA10611532C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.*531A>G79809TTC21BBenignrs56115495RCV000367451|RCV000407451; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166730734166730734TC2:g.166730734T>CClinGen:CA10611158C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.*517G>A79809TTC21BBenignrs77199262RCV000300745|RCV000353229; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166730748166730748CT2:g.166730748C>TClinGen:CA10611159C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.*516C>T79809TTC21BLikely benignrs185578095RCV000260703|RCV000323078; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166730749166730749GA2:g.166730749G>AClinGen:CA10612719C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.*473C>G79809TTC21BUncertain significancers763021259RCV000264500|RCV000361501; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166730792166730792GC2:g.166730792G>CClinGen:CA10612721
NM_024753.5(TTC21B):c.*460T>C79809TTC21BUncertain significancers537286454RCV000321951|RCV000383043; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166730805166730805AG2:g.166730805A>GClinGen:CA10612450
NM_024753.5(TTC21B):c.*451G>C79809TTC21BUncertain significancers886055023RCV000291013|RCV000324995; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166730814166730814CG2:g.166730814C>GClinGen:CA10611162
NM_024753.5(TTC21B):c.*424A>G79809TTC21BUncertain significance-1RCV001133951|RCV001133952; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166730841166730841TC2:g.166730841T>C-
NM_024753.5(TTC21B):c.*419C>A79809TTC21BUncertain significancers886055024RCV000294912|RCV000381964; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166730846166730846GT2:g.166730846G>TClinGen:CA10612722
NM_024753.5(TTC21B):c.*360C>A79809TTC21BUncertain significance-1RCV001135462|RCV001135463; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166730905166730905GT2:g.166730905G>T-
NM_024753.5(TTC21B):c.*246G>A79809TTC21BUncertain significancers759810831RCV000352081|RCV000402005; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166731019166731019CT2:g.166731019C>TClinGen:CA10611539
NM_024753.5(TTC21B):c.*105G>A79809TTC21BBenignrs74548052RCV000293674|RCV000337421; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166731160166731160CT2:g.166731160C>TClinGen:CA10612723
NM_024753.5(TTC21B):c.3914A>G (p.Asp1305Gly)79809TTC21BConflicting interpretations of pathogenicityrs147540469RCV000297705|RCV000407838|RCV000861564; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100, Orphanet:2166731302166731302TC2:g.166731302T>CClinGen:CA1941338
NM_024753.5(TTC21B):c.3874-14T>C79809TTC21BConflicting interpretations of pathogenicityrs200347449RCV000612511|RCV001130402|RCV001130403; NMedGen:CN169374|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166731356166731356AG2:g.166731356A>GClinGen:CA1941349CN169374 not specified;
NM_024753.5(TTC21B):c.3873+10T>A79809TTC21BUncertain significancers779470575RCV000354869|RCV000407794; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166732665166732665AT2:g.166732665A>TClinGen:CA1941366
NM_024753.5(TTC21B):c.3805+13A>G79809TTC21BUncertain significance-1RCV001130404|RCV001130405; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166737176166737176TC2:g.166737176T>C-
NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro)79809TTC21BPathogenicrs759086770RCV000515826|RCV000656518; NMONDO:MONDO:0010024,MedGen:C0432198,OMIM:269860, Orphanet:93268|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166740383166740383AG2:g.166740383A>GClinGen:CA59769683,OMIM:612014.0007
NM_024753.5(TTC21B):c.3519T>C (p.Thr1173=)79809TTC21BBenignrs115504901RCV000118727|RCV000265879|RCV000328253|RCV000756831; NMedGen:CN169374|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500, Orphanet:474; Human Phenotype Ontology:HP:0000090,Human Phenotype 2166740469166740469AG2:g.166740469A>GClinGen:CA155852C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=)79809TTC21BConflicting interpretations of pathogenicityrs115504901RCV000248204|RCV000305694|RCV000358176|RCV000756832; NMedGen:CN169374|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500, Orphanet:474; Human Phenotype Ontology:HP:0000090,Human Phenotype 2166740469166740469AC2:g.166740469A>CClinGen:CA1941480C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.3500A>G (p.Tyr1167Cys)79809TTC21BUncertain significance-1RCV001131127|RCV001131128; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166740488166740488TC2:g.166740488T>C-
NM_024753.5(TTC21B):c.3450A>G (p.Ala1150=)79809TTC21BConflicting interpretations of pathogenicityrs767037992RCV000874145|RCV001134076|RCV001134077; NHuman Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100, Orphanet:655; MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500, Orphanet:474|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819,Orphane2166744798166744798TC2:g.166744798T>C-
NM_024753.5(TTC21B):c.3101+9A>G79809TTC21BUncertain significance-1RCV001134080|RCV001134081; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166747339166747339TC2:g.166747339T>C-
NM_024753.5(TTC21B):c.3042A>G (p.Lys1014=)79809TTC21BUncertain significancers755454992RCV000269549|RCV000366523; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166747407166747407TC2:g.166747407T>CClinGen:CA1941606
NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn)79809TTC21BUncertain significance-1RCV001135583|RCV001135584; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166747446166747446TG2:g.166747446T>G-
NM_024753.5(TTC21B):c.2983C>G (p.Leu995Val)79809TTC21BUncertain significance-1RCV001135585|RCV001135586; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166747466166747466GC2:g.166747466G>C-
NM_024753.5(TTC21B):c.2903A>G (p.Tyr968Cys)79809TTC21BUncertain significance-1RCV001135587|RCV001135588; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166755243166755243TC2:g.166755243T>C-
NM_024753.5(TTC21B):c.2901C>G (p.Asp967Glu)79809TTC21BUncertain significancers886055025RCV000326990|RCV000388738; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166755245166755245GC2:g.166755245G>CClinGen:CA10612453
NM_024753.5(TTC21B):c.2895A>T (p.Lys965Asn)79809TTC21BConflicting interpretations of pathogenicityrs146201603RCV000277941|RCV000330744|RCV000465241; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100, Orphanet:2166755251166755251TA2:g.166755251T>AClinGen:CA1941664
NM_024753.5(TTC21B):c.2830C>A (p.Leu944Met)79809TTC21BUncertain significance-1RCV001130510|RCV001130511; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166756318166756318GT2:g.166756318G>T-
NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp)79809TTC21BUncertain significancers151227843RCV000281585|RCV000387559|RCV000756834; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MedGen:CN5172022166756333166756333GA2:g.166756333G>AUniProtKB:Q7Z4L5#VAR_065543,ClinGen:CA1941692
NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln)79809TTC21BUncertain significancers747246700RCV000334319|RCV000372660; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166756371166756371CT2:g.166756371C>TClinGen:CA1941701
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln)79809TTC21BUncertain significancers574017249RCV000515927|RCV001131237|RCV001131238; NMONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166758296166758296CT2:g.166758296C>TClinGen:CA1941750C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.2622T>G (p.Asp874Glu)79809TTC21BUncertain significancers886055026RCV000284964|RCV000339918; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166758367166758367AC2:g.166758367A>CClinGen:CA10611164
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp)79809TTC21BUncertain significancers34489989RCV000304805|RCV000398651|RCV000509503|RCV000634201|RCV001000398; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MedGen:CN517202|Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS2166758402166758402GA2:g.166758402G>AClinGen:CA241983C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.2530A>G (p.Met844Val)79809TTC21BUncertain significancers766811699RCV000360722|RCV001134207|RCV001134208; NMedGen:CN517202|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166764226166764226TC2:g.166764226T>CClinGen:CA1941809,UniProtKB:Q7Z4L5#VAR_065538CN169374 not specified;
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=)79809TTC21BConflicting interpretations of pathogenicityrs114725374RCV000310489|RCV000365262|RCV000842292|RCV001001081; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MedGen:CN517202|MedGen:CN1693742166764284166764284CT2:g.166764284C>TClinGen:CA1941818
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=)79809TTC21BBenignrs80225158RCV000082211|RCV000275348|RCV000311489|RCV000461313; NMedGen:CN169374|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500, Orphanet:474; Human Phenotype Ontology:HP:0000090,Human Phenotype 2166767913166767913CG2:g.166767913C>GClinGen:CA149276C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.2384T>C (p.Leu795Pro)79809TTC21BPathogenicrs387907060RCV000023928; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166767914166767914AG2:g.166767914A>GClinGen:CA129551,UniProtKB:Q7Z4L5#VAR_065537,OMIM:612014.0005C3151185 613819 Asphyxiating thoracic dystrophy 4;
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=)79809TTC21BBenignrs79656636RCV000118725|RCV000276462|RCV000370868|RCV000527028; NMedGen:CN169374|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500, Orphanet:474; Human Phenotype Ontology:HP:0000090,Human Phenotype 2166767964166767964GA2:g.166767964G>AClinGen:CA155848C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.2259G>A (p.Pro753=)79809TTC21BConflicting interpretations of pathogenicityrs570679271RCV000317496|RCV000371840|RCV000869167; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MedGen:CN5172022166769087166769087CT2:g.166769087C>TClinGen:CA1941878
NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu)79809TTC21BConflicting interpretations of pathogenicityrs539769126RCV000550901|RCV001128710|RCV001128711|RCV001258267; NMONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500, Orphanet:474; Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819,Orphane2166769088166769088GA2:g.166769088G>AClinGen:CA1941879
NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile)79809TTC21BUncertain significancers183367929RCV000263172|RCV000318231|RCV000634198|RCV000756833; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100, Orphanet:2166769119166769119CT2:g.166769119C>TClinGen:CA1941888
NM_024753.5(TTC21B):c.2211+13A>G79809TTC21BBenignrs73969727RCV000245046|RCV000283220|RCV000377557; NMedGen:CN169374|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166770071166770071TC2:g.166770071T>CClinGen:CA1941903C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=)79809TTC21BBenignrs10176588RCV000118724|RCV000342863|RCV000378916|RCV000860336; NMedGen:CN169374|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500, Orphanet:474; Human Phenotype Ontology:HP:0000090,Human Phenotype 2166770120166770120AG2:g.166770120A>GClinGen:CA155846C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.2100G>A (p.Lys700=)79809TTC21BConflicting interpretations of pathogenicityrs368202285RCV000289163|RCV000343584|RCV000861100; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MedGen:CN5172022166771749166771749CT2:g.166771749C>TClinGen:CA1941940
NM_024753.5(TTC21B):c.2084C>T (p.Ala695Val)79809TTC21BUncertain significance-1RCV001131337|RCV001131338; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166771765166771765GA2:g.166771765G>A-
NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val)79809TTC21BBenign/Likely benignrs77106136RCV000309034|RCV000400306|RCV000428600|RCV000755419|RCV001085825; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MedGen:CN169374|MedGen:CN517202|Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:2166773796166773796TC2:g.166773796T>CClinGen:CA1942001,UniProtKB:Q7Z4L5#VAR_065532
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys)79809TTC21BConflicting interpretations of pathogenicityrs139441507RCV000118723|RCV000244338|RCV000349862|RCV000407344|RCV001080770; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500, Orphanet:474; Human Phenotype Ontology:HP:0000090,2166773820166773820GA2:g.166773820G>AClinGen:CA231579,UniProtKB:Q7Z4L5#VAR_065531C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.1732G>C (p.Glu578Gln)79809TTC21BUncertain significancers377128320RCV000314823|RCV000369402; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166773934166773934CG2:g.166773934C>GClinGen:CA1942031
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg)79809TTC21BConflicting interpretations of pathogenicityrs146320075RCV000174799|RCV000755750|RCV000764280|RCV001078741|RCV001134339; NMedGen:CN517202|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655; MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|Human Phenotype Ontology:HP:0000090,Human Phenotype On2166773969166773969TC2:g.166773969T>CClinGen:CA240377,UniProtKB:Q7Z4L5#VAR_065529C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=)79809TTC21BBenignrs6750044RCV000118722|RCV000260738|RCV000301142|RCV000860337; NMedGen:CN169374|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500, Orphanet:474; Human Phenotype Ontology:HP:0000090,Human Phenotype 2166773971166773971GA2:g.166773971G>AClinGen:CA155844C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.1682A>G (p.Asp561Gly)79809TTC21BUncertain significance-1RCV001135804|RCV001135805; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166773984166773984TC2:g.166773984T>C-
NM_024753.5(TTC21B):c.1677G>C (p.Val559=)79809TTC21BConflicting interpretations of pathogenicityrs149842503RCV000868748|RCV001135806|RCV001135807; NMedGen:CN517202|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166773989166773989CG2:g.166773989C>G-
NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly)79809TTC21BConflicting interpretations of pathogenicityrs149325238RCV000249020|RCV000861850|RCV001135808|RCV001135809; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166773990166773990AC2:g.166773990A>CClinGen:CA1942041CN169374 not specified;
NM_024753.5(TTC21B):c.1650A>G (p.Glu550=)79809TTC21BConflicting interpretations of pathogenicityrs145926679RCV000244055|RCV000265946|RCV000355902|RCV000537482; NMedGen:CN169374|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500, Orphanet:474; Human Phenotype Ontology:HP:0000090,Human Phenotype 2166775810166775810TC2:g.166775810T>CClinGen:CA1942064C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.1637C>T (p.Ser546Phe)79809TTC21BUncertain significance-1RCV001128820|RCV001128821; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166775823166775823GA2:g.166775823G>A-
NM_024753.5(TTC21B):c.1609T>C (p.Leu537=)79809TTC21BUncertain significancers200916824RCV000321086|RCV000361542; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166775851166775851AG2:g.166775851A>GClinGen:CA10612458
NM_024753.5(TTC21B):c.1578T>C (p.Ala526=)79809TTC21BUncertain significancers573290536RCV000267097|RCV000326837; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166775882166775882AG2:g.166775882A>GClinGen:CA1942076
NM_024753.5(TTC21B):c.1575T>C (p.Tyr525=)79809TTC21BUncertain significance-1RCV001131473|RCV001131474; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166775885166775885AG2:g.166775885A>G-
NM_024753.5(TTC21B):c.1563C>T (p.His521=)79809TTC21BUncertain significance-1RCV001131475|RCV001131476; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166775897166775897GA2:g.166775897G>A-
NM_024753.5(TTC21B):c.1478A>G (p.Gln493Arg)79809TTC21BUncertain significancers748993825RCV000328279|RCV000387321; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166781097166781097TC2:g.166781097T>CClinGen:CA1942114
NM_024753.5(TTC21B):c.1448C>A (p.Thr483Asn)79809TTC21BUncertain significancers142887208RCV000293109|RCV000352777|RCV001221413; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100, Orphanet:2166781127166781127GT2:g.166781127G>TClinGen:CA1942121
NM_024753.5(TTC21B):c.1432A>T (p.Ile478Phe)79809TTC21BUncertain significance-1RCV001134459|RCV001134460; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166781143166781143TA2:g.166781143T>A-
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe)79809TTC21BBenignrs2163649RCV000082210|RCV000280317|RCV000401778|RCV000477470; NMedGen:CN169374|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500, Orphanet:474; Human Phenotype Ontology:HP:0000090,Human Phenotype 2166781158166781158GA2:g.166781158G>AClinGen:CA149274,UniProtKB:Q7Z4L5#VAR_032891C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser)79809TTC21BBenignrs16851307RCV000118721|RCV000335415|RCV000407714|RCV000420642|RCV001085824; NMedGen:CN169374|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MedGen:CN517202|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500, Orphanet:474; Human Phenotype Ontology:HP:0000090,2166781188166781188GA2:g.166781188G>AClinGen:CA155842,UniProtKB:Q7Z4L5#VAR_032890C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.1231C>T (p.Arg411Ter)79809TTC21BPathogenicrs185089786RCV000023927|RCV000627256; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MedGen:CN5172022166785800166785800GA2:g.166785800G>AClinGen:CA129549,OMIM:612014.0004C3151185 613819 Asphyxiating thoracic dystrophy 4;
NM_024753.5(TTC21B):c.1181C>T (p.Ser394Phe)79809TTC21BUncertain significance-1RCV001135924|RCV001135925; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166786164166786164GA2:g.166786164G>A-
NM_024753.5(TTC21B):c.1116G>T (p.Gly372=)79809TTC21BUncertain significance-1RCV001135926|RCV001135927; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166786229166786229CA2:g.166786229C>A-
NM_024753.5(TTC21B):c.876A>G (p.Thr292=)79809TTC21BConflicting interpretations of pathogenicityrs185247361RCV000862526|RCV001135930|RCV001135931; NMedGen:CN517202|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166788286166788286TC2:g.166788286T>C-
NM_024753.5(TTC21B):c.838A>G (p.Met280Val)79809TTC21BBenign/Likely benignrs112868646RCV000118733|RCV000300296|RCV000359707|RCV000755416|RCV001079775; NMedGen:CN169374|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MedGen:CN517202|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500, Orphanet:474; Human Phenotype Ontology:HP:0000090,2166788324166788324TC2:g.166788324T>CClinGen:CA155860,UniProtKB:Q7Z4L5#VAR_065523C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala)79809TTC21BBenignrs7592429RCV000118732|RCV000306035|RCV000407620|RCV000860056; NMedGen:CN169374|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500, Orphanet:474; Human Phenotype Ontology:HP:0000090,Human Phenotype 2166788336166788336TC2:g.166788336T>CUniProtKB:Q7Z4L5#VAR_032889,ClinGen:CA155858C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.795+3A>G79809TTC21BUncertain significancers753275145RCV000270836|RCV000360819; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166789480166789480TC2:g.166789480T>CClinGen:CA1942342
NM_024753.5(TTC21B):c.793A>C (p.Lys265Gln)79809TTC21BUncertain significancers886055027RCV000325863|RCV000366364; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166789485166789485TG2:g.166789485T>GClinGen:CA10612464
NM_024753.5(TTC21B):c.785A>T (p.Asp262Val)79809TTC21BConflicting interpretations of pathogenicityrs756913474RCV000866223|RCV001131590|RCV001131591; NMedGen:CN517202|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166789493166789493TA2:g.166789493T>A-
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn)79809TTC21BBenign/Likely benignrs74447004RCV000251249|RCV000271787|RCV000331562|RCV001083272; NMedGen:CN169374|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500, Orphanet:474; Human Phenotype Ontology:HP:0000090,Human Phenotype 2166789554166789554CT2:g.166789554C>TClinGen:CA231583,UniProtKB:Q7Z4L5#VAR_065521C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.685G>A (p.Asp229Asn)79809TTC21BUncertain significance-1RCV001132640|RCV001132641; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166797562166797562CT2:g.166797562C>T-
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu)79809TTC21BBenign/Likely benignrs80026831RCV000118730|RCV000296525|RCV000386132|RCV000755417|RCV001086745; NMedGen:CN169374|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MedGen:CN517202|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500, Orphanet:474; Human Phenotype Ontology:HP:0000090,2166797582166797582TA2:g.166797582T>AUniProtKB:Q7Z4L5#VAR_065519,ClinGen:CA155856C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.601G>A (p.Val201Met)79809TTC21BBenignrs1432273RCV000118729|RCV000332739|RCV000373358|RCV000860057; NMedGen:CN169374|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500, Orphanet:474; Human Phenotype Ontology:HP:0000090,Human Phenotype 2166797646166797646CT2:g.166797646C>TClinGen:CA155854,UniProtKB:Q7Z4L5#VAR_032888C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.481A>G (p.Thr161Ala)79809TTC21BUncertain significancers568969576RCV000278829|RCV000336979; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166799800166799800TC2:g.166799800T>CClinGen:CA1942424
NM_024753.5(TTC21B):c.338A>G (p.His113Arg)79809TTC21BUncertain significance-1RCV001136012|RCV001136013; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166802125166802125TC2:g.166802125T>C-
NM_024753.5(TTC21B):c.256A>C (p.Asn86His)79809TTC21BUncertain significance-1RCV001136014|RCV001136015; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166805910166805910TG2:g.166805910T>G-
NM_024753.5(TTC21B):c.152-2A>G79809TTC21BPathogenicrs760214276RCV000656517; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166806016166806016TC2:g.166806016T>COMIM:612014.0006
NM_024753.5(TTC21B):c.63T>C (p.His21=)79809TTC21BUncertain significancers886055029RCV000342796|RCV000402071; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166806193166806193AG2:g.166806193A>GClinGen:CA10611175
NM_024753.5(TTC21B):c.38A>G (p.Tyr13Cys)79809TTC21BUncertain significancers184586093RCV000307880|RCV000362630; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166806218166806218TC2:g.166806218T>CClinGen:CA1942570
NM_024753.5(TTC21B):c.19A>G (p.Lys7Glu)79809TTC21BUncertain significancers375721812RCV000309123|RCV000393968|RCV000699701; NMONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100, Orphanet:2166810197166810197TC2:g.166810197T>CClinGen:CA1942598
NM_024753.5(TTC21B):c.14A>C (p.Glu5Ala)79809TTC21BUncertain significancers778812789RCV000273798|RCV000368451; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166810202166810202TG2:g.166810202T>GClinGen:CA1942599
NM_024753.5(TTC21B):c.-16C>G79809TTC21BUncertain significancers886055030RCV000314903|RCV000369468; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166810231166810231GC2:g.166810231G>CClinGen:CA10612471
NM_024753.5(TTC21B):c.-17C>T79809TTC21BUncertain significancers572065013RCV000260659|RCV000316010; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166810232166810232GA2:g.166810232G>AClinGen:CA1942603
NM_024753.5(TTC21B):c.-18C>T79809TTC21BUncertain significancers187707893RCV000262325|RCV000375264; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166810233166810233GA2:g.166810233G>AClinGen:CA1942604
NM_024753.5(TTC21B):c.-24C>T79809TTC21BConflicting interpretations of pathogenicityrs554218980RCV000601121|RCV001132734|RCV001132735; NMedGen:CN169374|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:655|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:4742166810239166810239GA2:g.166810239G>AClinGen:CA1942606CN169374 not specified;
NM_024753.5(TTC21B):c.-44G>A79809TTC21BUncertain significance-1RCV001132736|RCV001132737; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166810259166810259CT2:g.166810259C>T-
NM_024753.5(TTC21B):c.-64G>A79809TTC21BUncertain significancers886055031RCV000322195|RCV000376866; NMONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819, Orphanet:474|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820, Orphanet:6552166810279166810279CT2:g.166810279C>TClinGen:CA10612725
MSeqDR Portal