MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Diseases (C)
Parent Node:
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Patterson Stevenson syndrome (C536311)
Parent Node:
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Polydactyly (D017689)
..Starting node
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POLYDACTYLY, PREAXIAL II (OMIM:174500)

       Child Nodes:



 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:10004
Name:POLYDACTYLY, PREAXIAL II
Definition:
Alternative IDs:DO:DOID:1148
ParentIDs:MESH:C536311|MESH:D017689
TreeNumbers:C05.116.099.370.231.576/C536311/174500 |C05.660.207.231.576/C536311/174500 |C05.660.585.600/174500 |C11.270.147.750/C536311/174500 |C16.131.621.207.231.576/C536311/174500 |C16.131.621.585.600/174500 |C16.131/C536311/174500
Synonyms:POLYDACTYLY OF TRIPHALANGEAL THUMB |PPD2 |TPT, INCLUDED |TPT-PS SYNDROME, INCLUDED |TRIPHALANGEAL THUMB, INCLUDED |TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME TRIPHALANGEAL THUMB WITH POLYSYNDACTYLY, INCLUDED |TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME, INCLUDED
Slim Mappings:Congenital abnormality|Eye disease|Musculoskeletal disease
Reference: MedGen: 174500
MeSH: 174500
OMIM: 174500;
MSeqDR LSDB:  
Genes: FGFR2; LMBR1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0009606Complete duplication of distal phalanx of the thumb
3 HP:0010066Duplication of phalanx of halluxHP:0040282
4 HP:0005866Opposable triphalangeal thumbHP:0040281
5 HP:0001830Postaxial foot polydactylyHP:0040282
6 HP:0001162Postaxial hand polydactylyHP:0040282
7 HP:0001841Preaxial foot polydactylyHP:0040282
8 HP:0001177Preaxial hand polydactylyHP:0040281
9 HP:0001159SyndactylyHP:0040282
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_022458.4(LMBR1):c.*3207T>G64327LMBR1Benignrs116521088RCV000375674; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156473565156473565AC7:g.156473565A>CClinGen:CA10654708C1969369 Triphalangeal thumb polysyndactyly syndrome;
NM_022458.4(LMBR1):c.*3187A>G64327LMBR1Uncertain significance-1RCV001165394; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156473585156473585TC7:g.156473585T>C-
NM_022458.4(LMBR1):c.*3180A>C64327LMBR1Uncertain significancers886062110RCV000305668; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156473592156473592TG7:g.156473592T>GClinGen:CA10625545
NM_022458.4(LMBR1):c.*2948G>T64327LMBR1Uncertain significance-1RCV001165395; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156473824156473824CA7:g.156473824C>A-
NM_022458.4(LMBR1):c.*2926G>C64327LMBR1Benignrs148658727RCV000265910; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156473846156473846CG7:g.156473846C>GClinGen:CA4587716
NM_022458.4(LMBR1):c.*2905T>A64327LMBR1Benignrs574914124RCV000318687; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156473867156473867AT7:g.156473867A>TClinGen:CA4587717
NM_022458.4(LMBR1):c.*2899A>T64327LMBR1Uncertain significancers748449219RCV000357234; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156473873156473873TA7:g.156473873T>AClinGen:CA10628512
NM_022458.4(LMBR1):c.*2820G>A64327LMBR1Benignrs550075183RCV000260048; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156473952156473952CT7:g.156473952C>TClinGen:CA4587721
NM_022458.4(LMBR1):c.*2798C>T64327LMBR1Uncertain significancers746253016RCV000317092; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156473974156473974GA7:g.156473974G>AClinGen:CA10628598
NM_022458.4(LMBR1):c.*2773G>T64327LMBR1Uncertain significancers886062111RCV000387948; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156473999156473999CA7:g.156473999C>AClinGen:CA10628599
NM_022458.4(LMBR1):c.*2771G>A64327LMBR1Uncertain significance-1RCV001158668; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474001156474001CT7:g.156474001C>T-
NM_022458.4(LMBR1):c.*2761G>A64327LMBR1Benignrs182572414RCV000295827; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474011156474011CT7:g.156474011C>TClinGen:CA10628600
NM_022458.4(LMBR1):c.*2744G>T64327LMBR1Uncertain significancers886062112RCV000329749; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474028156474028CA7:g.156474028C>AClinGen:CA10628513C1969369 Triphalangeal thumb polysyndactyly syndrome;
NM_022458.4(LMBR1):c.*2706A>G64327LMBR1Uncertain significance-1RCV001158669; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474066156474066TC7:g.156474066T>C-
NM_022458.4(LMBR1):c.*2667A>T64327LMBR1Benignrs187134101RCV000386559; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474105156474105TA7:g.156474105T>AClinGen:CA10623486C1969369 Triphalangeal thumb polysyndactyly syndrome;
NM_022458.4(LMBR1):c.*2658T>C64327LMBR1Uncertain significance-1RCV001158670; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474114156474114AG7:g.156474114A>G-
NM_022458.4(LMBR1):c.*2609C>T64327LMBR1Benign-1RCV001158671; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474163156474163GA7:g.156474163G>A-
NM_022458.4(LMBR1):c.*2603A>G64327LMBR1Benignrs1014236RCV000289881; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474169156474169TC7:g.156474169T>CClinGen:CA10628518C1969369 Triphalangeal thumb polysyndactyly syndrome;
NM_022458.4(LMBR1):c.*2596A>G64327LMBR1Benignrs550168152RCV000347074; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474176156474176TC7:g.156474176T>CClinGen:CA10628523C1969369 Triphalangeal thumb polysyndactyly syndrome;
NM_022458.4(LMBR1):c.*2519T>A64327LMBR1Uncertain significance-1RCV001161875; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474253156474253AT7:g.156474253A>T-
NM_022458.4(LMBR1):c.*2500A>G64327LMBR1Uncertain significancers566692462RCV000405749; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474272156474272TC7:g.156474272T>CClinGen:CA10623490C1969369 Triphalangeal thumb polysyndactyly syndrome;
NM_022458.4(LMBR1):c.*2489T>C64327LMBR1Benignrs191993720RCV000289082; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474283156474283AG7:g.156474283A>GClinGen:CA10625546C1969369 Triphalangeal thumb polysyndactyly syndrome;
NM_022458.4(LMBR1):c.*2477G>A64327LMBR1Uncertain significancers151167124RCV000341690; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474295156474295CT7:g.156474295C>TClinGen:CA10628606C1969369 Triphalangeal thumb polysyndactyly syndrome;
NM_022458.4(LMBR1):c.*2458A>G64327LMBR1Uncertain significance-1RCV001161876; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474314156474314TC7:g.156474314T>C-
NM_022458.4(LMBR1):c.*2451C>A64327LMBR1Uncertain significance-1RCV001161877; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474321156474321GT7:g.156474321G>T-
NM_022458.4(LMBR1):c.*2297C>T64327LMBR1Benignrs367713862RCV000405979; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474475156474475GA7:g.156474475G>AClinGen:CA10628608C1969369 Triphalangeal thumb polysyndactyly syndrome;
NM_022458.4(LMBR1):c.*2262G>A64327LMBR1Uncertain significance-1RCV001163406; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474510156474510CT7:g.156474510C>T-
NM_022458.4(LMBR1):c.*2198C>G64327LMBR1Benignrs116037533RCV000302109; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474574156474574GC7:g.156474574G>CClinGen:CA10628610C1969369 Triphalangeal thumb polysyndactyly syndrome;
NM_022458.4(LMBR1):c.*2147T>C64327LMBR1Uncertain significance-1RCV001163407; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474625156474625AG7:g.156474625A>G-
NM_022458.4(LMBR1):c.*2089G>A64327LMBR1Benignrs17837686RCV000340371; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474683156474683CT7:g.156474683C>TClinGen:CA10623510C1969369 Triphalangeal thumb polysyndactyly syndrome;
NM_022458.4(LMBR1):c.*2088C>T64327LMBR1Uncertain significance-1RCV001163408; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474684156474684GA7:g.156474684G>A-
NM_022458.4(LMBR1):c.*2081G>A64327LMBR1Benignrs113867033RCV000397645; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474691156474691CT7:g.156474691C>TClinGen:CA10623514
NM_022458.4(LMBR1):c.*2080C>T64327LMBR1Uncertain significance-1RCV001163409; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474692156474692GA7:g.156474692G>A-
NM_022458.4(LMBR1):c.*2066G>C64327LMBR1Benignrs560208746RCV000300875; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474706156474706CG7:g.156474706C>GClinGen:CA10625548
NM_022458.4(LMBR1):c.*2065A>G64327LMBR1Benignrs146931391RCV000353352; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474707156474707TC7:g.156474707T>CClinGen:CA10623515
NM_022458.4(LMBR1):c.*2020T>C64327LMBR1Uncertain significance-1RCV001163695; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474752156474752AG7:g.156474752A>G-
NM_022458.4(LMBR1):c.*2016C>T64327LMBR1Uncertain significancers529448700RCV000276343; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474756156474756GA7:g.156474756G>AClinGen:CA10628611
NM_022458.4(LMBR1):c.*1971A>T64327LMBR1Benignrs12530942RCV000315115; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474801156474801TA7:g.156474801T>AClinGen:CA10628536
NM_022458.4(LMBR1):c.*1922A>G64327LMBR1Benignrs75582340RCV000367361; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474850156474850TC7:g.156474850T>CClinGen:CA10625549
NM_022458.4(LMBR1):c.*1905C>G64327LMBR1Benignrs115581794RCV000275166; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474867156474867GC7:g.156474867G>CClinGen:CA10628619
NM_022458.4(LMBR1):c.*1862T>A64327LMBR1Uncertain significancers886062113RCV000328037; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474910156474910AT7:g.156474910A>TClinGen:CA10628537
NM_022458.4(LMBR1):c.*1841T>A64327LMBR1Uncertain significance-1RCV001158773; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474931156474931AT7:g.156474931A>T-
NM_022458.4(LMBR1):c.*1797G>C64327LMBR1Benignrs113036233RCV000384854; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156474975156474975CG7:g.156474975C>GClinGen:CA10623516
NM_022458.4(LMBR1):c.*1608C>T64327LMBR1Uncertain significance-1RCV001158774; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156475164156475164GA7:g.156475164G>A-
NM_022458.4(LMBR1):c.*1560T>A64327LMBR1Uncertain significance-1RCV001158775; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156475212156475212AT7:g.156475212A>T-
NM_022458.4(LMBR1):c.*1534A>G64327LMBR1Uncertain significancers886062114RCV000326915; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156475238156475238TC7:g.156475238T>CClinGen:CA10625551
NM_022458.4(LMBR1):c.*1470G>A64327LMBR1Benignrs549976103RCV000379220; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156475302156475302CT7:g.156475302C>TClinGen:CA10628538
NM_022458.4(LMBR1):c.*1469C>T64327LMBR1Benignrs184156281RCV000286478; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156475303156475303GA7:g.156475303G>AClinGen:CA10628622
NM_022458.4(LMBR1):c.*1444T>G64327LMBR1Benignrs17837687RCV000339133; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156475328156475328AC7:g.156475328A>CClinGen:CA10625552
NM_022458.4(LMBR1):c.*1363G>T64327LMBR1Uncertain significance-1RCV001160126; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156475409156475409CA7:g.156475409C>A-
NM_022458.4(LMBR1):c.*1359G>A64327LMBR1Benignrs565001458RCV000377372; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156475413156475413CT7:g.156475413C>TClinGen:CA10625564
NM_022458.4(LMBR1):c.*1358C>T64327LMBR1Uncertain significance-1RCV001160127; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156475414156475414GA7:g.156475414G>A-
NM_022458.4(LMBR1):c.*1357A>G64327LMBR1Benignrs568810522RCV000280470; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156475415156475415TC7:g.156475415T>CClinGen:CA10623517
NM_022458.4(LMBR1):c.*1347A>G64327LMBR1Uncertain significance-1RCV001160128; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156475425156475425TC7:g.156475425T>C-
NM_022458.4(LMBR1):c.*1325C>T64327LMBR1Benignrs1053214RCV000404441; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156475447156475447GA7:g.156475447G>AClinGen:CA10628540
NM_022458.4(LMBR1):c.*1259C>T64327LMBR1Uncertain significance-1RCV001160129; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156475513156475513GA7:g.156475513G>A-
NM_022458.4(LMBR1):c.*1172C>T64327LMBR1Uncertain significance-1RCV001160130; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156475600156475600GA7:g.156475600G>A-
NM_022458.4(LMBR1):c.*1150A>G64327LMBR1Uncertain significance-1RCV001163499; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156475622156475622TC7:g.156475622T>C-
NM_022458.4(LMBR1):c.*1061A>G64327LMBR1Benign-1RCV001163500; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156475711156475711TC7:g.156475711T>C-
NM_022458.4(LMBR1):c.*916C>A64327LMBR1Uncertain significance-1RCV001163501; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156475856156475856GT7:g.156475856G>T-
NM_022458.4(LMBR1):c.*728G>A64327LMBR1Uncertain significancers886062116RCV000298091; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156476044156476044CT7:g.156476044C>TClinGen:CA10623520
NM_022458.4(LMBR1):c.*722G>C64327LMBR1Benignrs11982416RCV000351645; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156476050156476050CG7:g.156476050C>GClinGen:CA10628627
NM_022458.4(LMBR1):c.*685G>A64327LMBR1Benignrs149399222RCV000395754; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156476087156476087CT7:g.156476087C>TClinGen:CA10628541
NM_022458.4(LMBR1):c.*650A>G64327LMBR1Uncertain significancers886062117RCV000312008; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156476122156476122TC7:g.156476122T>CClinGen:CA10625565
NM_022458.4(LMBR1):c.*457C>G64327LMBR1Uncertain significancers886062118RCV000369069; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156476315156476315GC7:g.156476315G>CClinGen:CA10628542
NM_022458.4(LMBR1):c.*383T>C64327LMBR1Benignrs3487RCV000272143; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156476389156476389AG7:g.156476389A>GClinGen:CA10628630
NM_022458.4(LMBR1):c.*305G>A64327LMBR1Uncertain significancers771023322RCV000310844; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156476467156476467CT7:g.156476467C>TClinGen:CA10623522
NM_022458.4(LMBR1):c.*303T>C64327LMBR1Benignrs115465818RCV000363154; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156476469156476469AG7:g.156476469A>GClinGen:CA10623523
NM_022458.4(LMBR1):c.*246G>A64327LMBR1Uncertain significancers745661512RCV000270903; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156476526156476526CT7:g.156476526C>TClinGen:CA10628631
NM_022458.4(LMBR1):c.*245C>T64327LMBR1Uncertain significance-1RCV001163796; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156476527156476527GA7:g.156476527G>A-
NM_022458.4(LMBR1):c.*166G>T64327LMBR1Uncertain significancers886062119RCV000323241; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156476606156476606CA7:g.156476606C>AClinGen:CA10625567
NM_022458.4(LMBR1):c.*100T>G64327LMBR1Benignrs111554843RCV000264631; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156476672156476672AC7:g.156476672A>CClinGen:CA10625582
NM_022458.4(LMBR1):c.*91C>T64327LMBR1Benignrs75853117RCV000322088; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156476681156476681GA7:g.156476681G>AClinGen:CA10623529
NM_022458.4(LMBR1):c.*89A>T64327LMBR1Benignrs3735186RCV000374486; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156476683156476683TA7:g.156476683T>AClinGen:CA10628635
NM_022458.4(LMBR1):c.*36C>T64327LMBR1Benignrs79881605RCV000282355; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156476736156476736GA7:g.156476736G>AClinGen:CA4587729
NM_022458.4(LMBR1):c.*15G>A64327LMBR1Benignrs78838110RCV000316422; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156476757156476757CT7:g.156476757C>TClinGen:CA4587732
NM_022458.4(LMBR1):c.*11C>T64327LMBR1Benign-1RCV001158885; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156476761156476761GA7:g.156476761G>A-
NM_022458.4(LMBR1):c.1399C>G (p.Leu467Val)64327LMBR1Benignrs140722848RCV000373403; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156476846156476846GC7:g.156476846G>CClinGen:CA4587749
NM_022458.4(LMBR1):c.1233T>C (p.Thr411=)64327LMBR1Likely benign-1RCV001158886; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156480878156480878AG7:g.156480878A>G-
NM_022458.4(LMBR1):c.1159-3C>T64327LMBR1Benign-1RCV001158887; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156516875156516875GA7:g.156516875G>A-
NM_022458.4(LMBR1):c.1111T>G (p.Phe371Val)64327LMBR1Uncertain significancers886062120RCV000295917; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156518176156518176AC7:g.156518176A>CClinGen:CA10623532C1969369 Triphalangeal thumb polysyndactyly syndrome;
NM_022458.4(LMBR1):c.1095C>T (p.Gly365=)64327LMBR1Benignrs60299355RCV000348447; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156518192156518192GA7:g.156518192G>AClinGen:CA4587839C1969369 Triphalangeal thumb polysyndactyly syndrome;
NM_022458.4(LMBR1):c.1092C>T (p.Val364=)64327LMBR1Benignrs59912051RCV000390574; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156518195156518195GA7:g.156518195G>AClinGen:CA4587842C1969369 Triphalangeal thumb polysyndactyly syndrome;
NM_022458.4(LMBR1):c.1083C>T (p.Ser361=)64327LMBR1Likely benignrs757854346RCV000289958; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156518204156518204GA7:g.156518204G>AClinGen:CA4587843C1969369 Triphalangeal thumb polysyndactyly syndrome;
NM_022458.4(LMBR1):c.1026G>A (p.Thr342=)64327LMBR1Benign-1RCV001160227; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156518499156518499CT7:g.156518499C>T-
NM_022458.4(LMBR1):c.923C>T (p.Ser308Leu)64327LMBR1Uncertain significance-1RCV001160228; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156520694156520694GA7:g.156520694G>A-
NM_022458.4(LMBR1):c.843G>A (p.Arg281=)64327LMBR1Conflicting interpretations of pathogenicityrs140806590RCV000347140|RCV000375873; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:93336|MedGen:CN5172027156521410156521410CT7:g.156521410C>TClinGen:CA4587934CN169374 not specified;
NM_022458.4(LMBR1):c.770C>T (p.Ser257Leu)64327LMBR1Benignrs182641358RCV000395503; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156526939156526939GA7:g.156526939G>AClinGen:CA4587968C1969369 Triphalangeal thumb polysyndactyly syndrome;
NM_022458.4(LMBR1):c.682A>G (p.Thr228Ala)64327LMBR1Benignrs6957768RCV000307548; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156554830156554830TC7:g.156554830T>CClinGen:CA4588036,UniProtKB:Q8WVP7#VAR_031900C1969369 Triphalangeal thumb polysyndactyly syndrome;
NM_022458.4(LMBR1):c.665A>C (p.Gln222Pro)64327LMBR1Benignrs201194692RCV000359894; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156554847156554847TG7:g.156554847T>GClinGen:CA4588040C1969369 Triphalangeal thumb polysyndactyly syndrome;
NM_022458.4(LMBR1):c.627A>G (p.Thr209=)64327LMBR1Uncertain significance-1RCV001163599; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156554885156554885TC7:g.156554885T>C-
NM_022458.4(LMBR1):c.529G>A (p.Ala177Thr)64327LMBR1Uncertain significancers148974610RCV000395510; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156556384156556384CT7:g.156556384C>TClinGen:CA4588093C1969369 Triphalangeal thumb polysyndactyly syndrome;
NM_022458.4(LMBR1):c.528C>G (p.Ala176=)64327LMBR1Benignrs138255184RCV000274966|RCV000302035|RCV000955386; NMedGen:CN169374|MONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:93336|MedGen:CN5172027156556385156556385GC7:g.156556385G>CClinGen:CA4588094CN169374 not specified;
NM_022458.4(LMBR1):c.522C>A (p.Asn174Lys)64327LMBR1Uncertain significance-1RCV001163600; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156556391156556391GT7:g.156556391G>T-
NM_022458.4(LMBR1):c.474G>A (p.Ala158=)64327LMBR1Benignrs201832150RCV000359191; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156556439156556439CT7:g.156556439C>TClinGen:CA4588105C1969369 Triphalangeal thumb polysyndactyly syndrome;
NM_022458.4(LMBR1):c.462T>G (p.Leu154=)64327LMBR1Likely benignrs765231166RCV000261847; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156556451156556451AC7:g.156556451A>CClinGen:CA4588109C1969369 Triphalangeal thumb polysyndactyly syndrome;
NM_022458.4(LMBR1):c.435C>T (p.Ala145=)64327LMBR1Benignrs563054181RCV000319643; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156556478156556478GA7:g.156556478G>AClinGen:CA4588116
NM_022458.4(LMBR1):c.432A>G (p.Arg144=)64327LMBR1Benignrs141871054RCV000353427; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156556481156556481TC7:g.156556481T>CClinGen:CA4588117
NM_022458.4(LMBR1):c.423+5252A>G64327LMBR1Pathogenicrs606231150RCV000005181|RCV000005182; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:93336|Human Phenotype Ontology:HP:0001199,Human Phenotype Ontology:HP:0005846,Human Phenotype Ontology:HP:0006194,Human Phenotype Ontolo7156583831156583831TC7:g.156583831T>COMIM:605522.0007,ClinGen:CA117135
NM_022458.4(LMBR1):c.423+5134C>G64327LMBR1Pathogenicrs606231151RCV000005183|RCV000005184; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:93336|Human Phenotype Ontology:HP:0001199,Human Phenotype Ontology:HP:0005846,Human Phenotype Ontology:HP:0006194,Human Phenotype Ontolo7156583949156583949GC7:g.156583949G>CClinGen:CA117136,OMIM:605522.0008
NM_022458.4(LMBR1):c.423+4909C>T64327LMBR1Pathogenicrs606231153RCV000005189; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156584174156584174GA7:g.156584174G>AClinGen:CA117138,OMIM:605522.0012
NM_022458.4(LMBR1):c.423+4847T>G64327LMBR1Pathogenicrs606231231RCV000023454; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156584236156584236AC7:g.156584236A>CClinGen:CA129281,OMIM:605522.0014
NM_022458.4(LMBR1):c.423+4842T>C64327LMBR1Pathogenicrs606231149RCV000005178|RCV000005179; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:93336|Human Phenotype Ontology:HP:0001199,Human Phenotype Ontology:HP:0005846,Human Phenotype Ontology:HP:0006194,Human Phenotype Ontolo7156584241156584241AG7:g.156584241A>GClinGen:CA117134,OMIM:605522.0005
NM_022458.4(LMBR1):c.423+4818A>T64327LMBR1Pathogenicrs606231148RCV000005177; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156584265156584265TA7:g.156584265T>AClinGen:CA117133,OMIM:605522.0004
NM_022458.4(LMBR1):c.423+4810G>A64327LMBR1Pathogenicrs606231230RCV000023453; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156584273156584273CT7:g.156584273C>TClinGen:CA129280,OMIM:605522.0013
NM_022458.4(LMBR1):c.423+4618C>G64327LMBR1Pathogenicrs606231146RCV000005175; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156584465156584465GC7:g.156584465G>CClinGen:CA117131,OMIM:605522.0002
NM_022458.4(LMBR1):c.357T>C (p.Cys119=)64327LMBR1Benignrs112583005RCV000260814; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156589149156589149AG7:g.156589149A>GClinGen:CA4588151
NM_022458.4(LMBR1):c.350A>G (p.Asn117Ser)64327LMBR1Uncertain significancers568570543RCV000332422; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156589156156589156TC7:g.156589156T>CClinGen:CA4588154
NM_022458.4(LMBR1):c.240C>G (p.Phe80Leu)64327LMBR1Uncertain significancers886062121RCV000389440; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156619378156619378GC7:g.156619378G>CClinGen:CA10628647
NM_022458.4(LMBR1):c.204C>T (p.Leu68=)64327LMBR1Likely benignrs766669976RCV000292725; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156619414156619414GA7:g.156619414G>AClinGen:CA4588181
NM_022458.4(LMBR1):c.165C>T (p.Ile55=)64327LMBR1Benign-1RCV001163918; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156626461156626461GA7:g.156626461G>A-
NM_022458.4(LMBR1):c.61T>A (p.Ser21Thr)64327LMBR1Benignrs367632078RCV000331447; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156685627156685627AT7:g.156685627A>TClinGen:CA4588272
NM_022458.4(LMBR1):c.52G>T (p.Val18Leu)64327LMBR1Likely benignrs147215221RCV000383646; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156685636156685636CA7:g.156685636C>AClinGen:CA4588277
NM_022458.4(LMBR1):c.16G>A (p.Glu6Lys)64327LMBR1Conflicting interpretations of pathogenicityrs139646169RCV000291723|RCV000598270; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:93336|MedGen:CN5172027156685672156685672CT7:g.156685672C>TClinGen:CA4588287
NM_022458.4(LMBR1):c.-91C>G64327LMBR1Benign-1RCV001158980; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156685778156685778GC7:g.156685778G>C-
NM_022458.4(LMBR1):c.-146C>T64327LMBR1Uncertain significance-1RCV001158981; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156685833156685833GA7:g.156685833G>A-
NM_022458.4(LMBR1):c.-154G>A64327LMBR1Uncertain significancers886062122RCV000344349; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156685841156685841CT7:g.156685841C>TClinGen:CA10623536
NM_022458.4(LMBR1):c.-158G>A64327LMBR1Uncertain significancers886062123RCV000405899; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156685845156685845CT7:g.156685845C>TClinGen:CA10628649
NM_022458.4(LMBR1):c.-176G>A64327LMBR1Uncertain significancers886062124RCV000284195; NMONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:933367156685863156685863CT7:g.156685863C>TClinGen:CA10628652
NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His)5727PTCH1Conflicting interpretations of pathogenicityrs560967532RCV000121894|RCV000123028|RCV000570402|RCV001078464|RCV001166262; NMedGen:CN169374|MONDO:MONDO:0007187,MedGen:C0004779,OMIM:109400, Orphanet:377|MONDO:MONDO:0015356,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008270,MONDO:MONDO:0008465,MedGen:C1868114,OMIM:174500,OMIM:183700, Orphanet:2439, Orphanet:2950, Orphanet:93336|M99821153898211538CT9:g.98211538C>TClinGen:CA161709C0004779 109400 Gorlin syndrome;
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