WDR35 (WD repeat domain 35) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: WDR35 (WD repeat domain 35) Homo sapiens
Analyze
Symbol: WDR35
Name: WD repeat domain 35
RGD ID: 1315220
HGNC Page HGNC
Description: Involved in cilium assembly; intraciliary transport; and protein localization to cilium. Acts upstream of or within intraciliary retrograde transport. Part of intraciliary transport particle A. Implicated in Ellis-Van Creveld syndrome; cranioectodermal dysplasia 2; and short-rib thoracic dysplasia 7 with or without polydactyly.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CED2; FAP118; IFT121; IFTA1; intraflagellar transport protein 121 homolog; KIAA1336; MGC33196; naofen; SRTD7; WD repeat-containing protein 35
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl219,910,263 - 19,990,105 (-)EnsemblGRCh38hg38GRCh38
GRCh38219,910,260 - 19,990,105 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37220,110,024 - 20,189,866 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36219,973,505 - 20,053,365 (-)NCBINCBI36hg18NCBI36
Build 34220,031,658 - 20,111,512NCBI
Celera219,972,385 - 20,052,221 (-)NCBI
Cytogenetic Map2p24.1NCBI
HuRef219,867,423 - 19,947,167 (-)NCBIHuRef
CHM1_1220,039,380 - 20,119,218 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abnormal dental enamel morphology  (IAGP)
Abnormal diaphysis morphology  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal pelvis bone ossification  (IAGP)
Abnormal toenail morphology  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of the metaphysis  (IAGP)
Abnormality of the pinna  (IAGP)
Absent or minimally ossified vertebral bodies  (IAGP)
Acidosis  (IAGP)
Agenesis of corpus callosum  (IAGP)
Agenesis of permanent teeth  (IAGP)
Ambiguous genitalia  (IAGP)
Anal atresia  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the eyebrow  (IAGP)
Ascites  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bifid epiglottis  (IAGP)
Bifid tongue  (IAGP)
Bile duct proliferation  (IAGP)
Biliary cirrhosis  (IAGP)
Blepharophimosis  (IAGP)
Bowing of the long bones  (IAGP)
Brachydactyly  (IAGP)
Broad philtrum  (IAGP)
Cataract  (IAGP)
Cholangitis  (IAGP)
Cholestasis  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Clinodactyly  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Cloverleaf skull  (IAGP)
Congenital hepatic fibrosis  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Cutis laxa  (IAGP)
Cystic hygroma  (IAGP)
Dandy-Walker malformation  (IAGP)
Depressed nasal bridge  (IAGP)
Disproportionate short-limb short stature  (IAGP)
Dolichocephaly  (IAGP)
Ectodermal dysplasia  (IAGP)
Ectopic anus  (IAGP)
Elevated hepatic transaminase  (IAGP)
Epicanthus  (IAGP)
Esophageal atresia  (IAGP)
Everted lower lip vermilion  (IAGP)
Facial cleft  (IAGP)
Fine hair  (IAGP)
Finger syndactyly  (IAGP)
Flat acetabular roof  (IAGP)
Frontal bossing  (IAGP)
Full cheeks  (IAGP)
Fused teeth  (IAGP)
Global developmental delay  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatomegaly  (IAGP)
High forehead  (IAGP)
High hypermetropia  (IAGP)
High palate  (IAGP)
Horizontal ribs  (IAGP)
Hydronephrosis  (IAGP)
Hydrops fetalis  (IAGP)
Hyperbilirubinemia  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplastic scapulae  (IAGP)
Hypospadias  (IAGP)
Hypotelorism  (IAGP)
Inguinal hernia  (IAGP)
Joint hyperflexibility  (IAGP)
Joint laxity  (IAGP)
Left ventricular hypertrophy  (IAGP)
Lethal skeletal dysplasia  (IAGP)
Long philtrum  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Mesomelia  (IAGP)
Metopic synostosis  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Midface retrusion  (IAGP)
Myopia  (IAGP)
Nail dysplasia  (IAGP)
Narrow chest  (IAGP)
Narrow forehead  (IAGP)
Narrow palpebral fissure  (IAGP)
Nystagmus  (IAGP)
Omphalocele  (IAGP)
Osteoporosis  (IAGP)
Patent ductus arteriosus  (IAGP)
Patent foramen ovale  (IAGP)
Pectus excavatum  (IAGP)
Plagiocephaly  (IAGP)
Polycystic kidney dysplasia  (IAGP)
Polydactyly  (IAGP)
Polyhydramnios  (IAGP)
Polysplenia  (IAGP)
Portal fibrosis  (IAGP)
Postaxial hand polydactyly  (IAGP)
Postaxial polydactyly  (IAGP)
Preaxial hand polydactyly  (IAGP)
Prominent occiput  (IAGP)
Pulmonary hypoplasia  (IAGP)
Renal cyst  (IAGP)
Renal hypoplasia  (IAGP)
Renal insufficiency  (IAGP)
Respiratory insufficiency  (IAGP)
Retrognathia  (IAGP)
Rhizomelia  (IAGP)
Short distal phalanx of finger  (IAGP)
Short foot  (IAGP)
Short lingual frenulum  (IAGP)
Short long bone  (IAGP)
Short neck  (IAGP)
Short palm  (IAGP)
Short ribs  (IAGP)
Short stature  (IAGP)
Short thorax  (IAGP)
Short uvula  (IAGP)
Smooth philtrum  (IAGP)
Sparse eyebrow  (IAGP)
Sparse eyelashes  (IAGP)
Sparse hair  (IAGP)
Splenomegaly  (IAGP)
Syndactyly  (IAGP)
Taurodontia  (IAGP)
Telecanthus  (IAGP)
Thoracic dysplasia  (IAGP)
Upslanted palpebral fissure  (IAGP)
Urethrovaginal fistula  (IAGP)
Uterus didelphys  (IAGP)
Wide nasal bridge  (IAGP)
Wide nose  (IAGP)
Widely spaced teeth  (IAGP)
References

Additional References at PubMed
PMID:10718198   PMID:12168954   PMID:14702039   PMID:15489334   PMID:16147992   PMID:20193664   PMID:20817137   PMID:20889716   PMID:21473986   PMID:21873635   PMID:22486404   PMID:22751097  
PMID:22939629   PMID:24027799   PMID:25011449   PMID:25921289   PMID:26186194   PMID:26496610   PMID:27173435   PMID:27609421   PMID:27806291   PMID:27932497   PMID:28332779   PMID:28514442  
PMID:28870638   PMID:29053956   PMID:29134781   PMID:29174089   PMID:29220510   PMID:30570184   PMID:30790652   PMID:31091453   PMID:32804427   PMID:33187986   PMID:33421337  


Genomics

Comparative Map Data
WDR35
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl219,910,263 - 19,990,105 (-)EnsemblGRCh38hg38GRCh38
GRCh38219,910,260 - 19,990,105 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37220,110,024 - 20,189,866 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36219,973,505 - 20,053,365 (-)NCBINCBI36hg18NCBI36
Build 34220,031,658 - 20,111,512NCBI
Celera219,972,385 - 20,052,221 (-)NCBI
Cytogenetic Map2p24.1NCBI
HuRef219,867,423 - 19,947,167 (-)NCBIHuRef
CHM1_1220,039,380 - 20,119,218 (-)NCBICHM1_1
Wdr35
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39129,023,897 - 9,078,848 (+)NCBIGRCm39mm39
GRCm39 Ensembl129,023,892 - 9,078,847 (+)Ensembl
GRCm38128,973,998 - 9,028,848 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl128,973,892 - 9,028,847 (+)EnsemblGRCm38mm10GRCm38
MGSCv37128,980,807 - 9,035,653 (+)NCBIGRCm37mm9NCBIm37
MGSCv36128,999,900 - 9,054,855 (+)NCBImm8
Celera129,360,456 - 9,414,687 (+)NCBICelera
Cytogenetic Map12A1.1NCBI
Wdr35
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2631,771,315 - 31,831,450 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl631,771,360 - 31,831,029 (+)Ensembl
Rnor_6.0634,094,291 - 34,152,048 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl634,094,306 - 34,151,622 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0643,875,468 - 43,932,876 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4632,522,578 - 32,523,842 (-)NCBIRGSC3.4rn4RGSC3.4
Celera631,219,791 - 31,278,025 (+)NCBICelera
Cytogenetic Map6q14NCBI
Wdr35
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554692,482,353 - 2,546,578 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554692,484,972 - 2,546,562 (-)NCBIChiLan1.0ChiLan1.0
WDR35
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A20,014,127 - 20,093,794 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A20,014,127 - 20,093,810 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A19,896,498 - 19,977,295 (-)NCBIMhudiblu_PPA_v0panPan3
WDR35
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11714,976,662 - 15,034,918 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1714,977,457 - 15,034,748 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1714,936,610 - 14,994,995 (-)NCBI
ROS_Cfam_1.01715,124,117 - 15,182,623 (-)NCBI
UMICH_Zoey_3.11714,978,142 - 15,036,297 (-)NCBI
UNSW_CanFamBas_1.01714,984,409 - 15,042,802 (-)NCBI
UU_Cfam_GSD_1.01715,016,240 - 15,074,493 (-)NCBI
Wdr35
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629259,403,787 - 59,464,922 (-)NCBI
SpeTri2.0NW_00493649311,374,681 - 11,435,792 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WDR35
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3118,209,099 - 118,279,041 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13118,209,112 - 118,279,050 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23126,240,426 - 126,299,259 (+)NCBISscrofa10.2Sscrofa10.2susScr3
WDR35
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11487,732,034 - 87,801,687 (+)NCBI
ChlSab1.1 Ensembl1487,732,049 - 87,801,852 (+)Ensembl
Vero_WHO_p1.0NW_02366604524,429,782 - 24,497,638 (-)NCBI
Wdr35
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247382,618,464 - 2,720,567 (-)NCBI

Position Markers
D2S1845  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37220,110,083 - 20,110,244UniSTSGRCh37
Build 36219,973,564 - 19,973,725RGDNCBI36
Celera219,972,444 - 19,972,605RGD
Cytogenetic Map2p24.1UniSTS
HuRef219,867,482 - 19,867,643UniSTS
Whitehead-YAC Contig Map2 UniSTS
SHGC-61990  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37220,110,090 - 20,110,228UniSTSGRCh37
Build 36219,973,571 - 19,973,709RGDNCBI36
Celera219,972,451 - 19,972,589RGD
Cytogenetic Map2p24.1UniSTS
HuRef219,867,489 - 19,867,627UniSTS
GeneMap99-GB4 RH Map273.14UniSTS
NCBI RH Map288.0UniSTS
RH78124  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37220,110,450 - 20,110,599UniSTSGRCh37
Build 36219,973,931 - 19,974,080RGDNCBI36
Celera219,972,811 - 19,972,960RGD
Cytogenetic Map2p24.1UniSTS
HuRef219,867,849 - 19,867,998UniSTS
NCBI RH Map286.9UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3770
Count of miRNA genes:1049
Interacting mature miRNAs:1293
Transcripts:ENST00000281405, ENST00000345530, ENST00000414212, ENST00000416055, ENST00000445063, ENST00000453014, ENST00000494964
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 470 229 755 20 247 21 1029 258 1052 151 943 688 6 1 51 737
Low 1961 2350 962 595 1306 435 3321 1883 2681 267 516 924 169 1153 2044 5 2
Below cutoff 2 412 9 9 373 9 7 55 1 1 1 1 7 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001006657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_426989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_939699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB037757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC013400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX476609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000281405   ⟹   ENSP00000281405
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl219,910,263 - 19,990,105 (-)Ensembl
RefSeq Acc Id: ENST00000345530   ⟹   ENSP00000314444
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl219,910,263 - 19,990,105 (-)Ensembl
RefSeq Acc Id: ENST00000414212   ⟹   ENSP00000390802
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl219,913,558 - 19,990,048 (-)Ensembl
RefSeq Acc Id: ENST00000445063   ⟹   ENSP00000390105
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl219,913,242 - 19,975,636 (-)Ensembl
RefSeq Acc Id: ENST00000453014   ⟹   ENSP00000404409
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl219,935,032 - 19,953,871 (-)Ensembl
RefSeq Acc Id: ENST00000494964
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl219,948,172 - 19,951,921 (-)Ensembl
RefSeq Acc Id: NM_001006657   ⟹   NP_001006658
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38219,910,263 - 19,990,105 (-)NCBI
GRCh37220,110,024 - 20,189,884 (-)RGD
Build 36219,973,505 - 20,053,365 (-)NCBI Archive
Celera219,972,385 - 20,052,221 (-)RGD
HuRef219,867,423 - 19,947,167 (-)ENTREZGENE
CHM1_1220,039,380 - 20,119,218 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020779   ⟹   NP_065830
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38219,910,263 - 19,990,105 (-)NCBI
GRCh37220,110,024 - 20,189,884 (-)RGD
Build 36219,973,505 - 20,053,365 (-)NCBI Archive
Celera219,972,385 - 20,052,221 (-)RGD
HuRef219,867,423 - 19,947,167 (-)ENTREZGENE
CHM1_1220,039,380 - 20,119,218 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533007   ⟹   XP_011531309
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38219,910,260 - 19,966,811 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001738862
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38219,932,359 - 19,990,048 (-)NCBI
Sequence:
RefSeq Acc Id: XR_426989
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38219,910,260 - 19,990,048 (-)NCBI
Sequence:
RefSeq Acc Id: XR_939699
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38219,938,322 - 19,990,048 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001006658   ⟸   NM_001006657
- Peptide Label: isoform 1
- UniProtKB: Q9P2L0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_065830   ⟸   NM_020779
- Peptide Label: isoform 2
- UniProtKB: Q9P2L0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011531309   ⟸   XM_011533007
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000314444   ⟸   ENST00000345530
RefSeq Acc Id: ENSP00000281405   ⟸   ENST00000281405
RefSeq Acc Id: ENSP00000390802   ⟸   ENST00000414212
RefSeq Acc Id: ENSP00000404409   ⟸   ENST00000453014
RefSeq Acc Id: ENSP00000390105   ⟸   ENST00000445063
Protein Domains
WD_REPEATS_REGION

Promoters
RGD ID:6859708
Promoter ID:EPDNEW_H3018
Type:initiation region
Name:WDR35_1
Description:WD repeat domain 35
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38219,990,104 - 19,990,164EPDNEW
RGD ID:6797721
Promoter ID:HG_KWN:31665
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000207472,   OTTHUMT00000207473,   OTTHUMT00000323873,   OTTHUMT00000323928,   UC010EXT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36220,053,139 - 20,053,639 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001353118]|Jeune thoracic dystrophy [RCV000516065]|SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY [RCV000578486]|Short Rib Polydactyly Syndrome [RCV000851218]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000755748]|Short-rib thoracic dysplasia 7/20 with polydactyly, digenic [RCV000608080]|none provided [RCV001286685] Chr2:19969556 [GRCh38]
Chr2:20169317 [GRCh37]
Chr2:2p24.1
pathogenic|likely pathogenic
NM_020779.4(WDR35):c.307+214_436+1120del deletion Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000024037] Chr2:19977631..19980477 [GRCh38]
Chr2:20177392..20180238 [GRCh37]
Chr2:2p24.1
pathogenic
NM_020779.4(WDR35):c.781T>C (p.Trp261Arg) single nucleotide variant Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000024039] Chr2:19973664 [GRCh38]
Chr2:20173425 [GRCh37]
Chr2:2p24.1
pathogenic
NM_020779.4(WDR35):c.25-2A>G single nucleotide variant Cranioectodermal dysplasia 2 [RCV000000037] Chr2:19989284 [GRCh38]
Chr2:20189045 [GRCh37]
Chr2:2p24.1
pathogenic
NM_020779.4(WDR35):c.2858del (p.Pro953fs) deletion Cranioectodermal dysplasia 2 [RCV000000039] Chr2:19931375 [GRCh38]
Chr2:20131136 [GRCh37]
Chr2:2p24.1
pathogenic
NM_020779.4(WDR35):c.248A>G (p.Tyr83Cys) single nucleotide variant not provided [RCV000728035] Chr2:19980750 [GRCh38]
Chr2:20180511 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2024C>T (p.Ala675Val) single nucleotide variant not provided [RCV000722666] Chr2:19938304 [GRCh38]
Chr2:20138065 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.3343T>C (p.Leu1115=) single nucleotide variant not provided [RCV000728243] Chr2:19914056 [GRCh38]
Chr2:20113817 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000552845]|Cranioectodermal dysplasia 2 [RCV001141934]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001141933]|not provided [RCV001570965]|not specified [RCV000593049] Chr2:19960561 [GRCh38]
Chr2:20160322 [GRCh37]
Chr2:2p24.1
likely benign|conflicting interpretations of pathogenicity
NM_020779.4(WDR35):c.3426G>T (p.Trp1142Cys) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000578479] Chr2:19913645 [GRCh38]
Chr2:20113406 [GRCh37]
Chr2:2p24.1
pathogenic
NM_020779.4(WDR35):c.1600C>T (p.Arg534Ter) single nucleotide variant Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000024038] Chr2:19946495 [GRCh38]
Chr2:20146256 [GRCh37]
Chr2:2p24.1
pathogenic
NM_020779.4(WDR35):c.1844A>G (p.Glu615Gly) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000000038] Chr2:19945787 [GRCh38]
Chr2:20145548 [GRCh37]
Chr2:2p24.1
pathogenic
NM_020779.4(WDR35):c.2590G>A (p.Ala864Thr) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000000040]|not provided [RCV000508347] Chr2:19933469 [GRCh38]
Chr2:20133230 [GRCh37]
Chr2:2p24.1
pathogenic|likely pathogenic
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1
pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000055830]|Cranioectodermal dysplasia 2 [RCV000648351]|Cranioectodermal dysplasia [RCV000826131]|Jeune thoracic dystrophy [RCV000515864]|WDR35-Related Disorders [RCV000288028]|not provided [RCV001557398] Chr2:19941796 [GRCh38]
Chr2:20141557 [GRCh37]
Chr2:2p24.1
pathogenic|likely pathogenic
NM_020779.4(WDR35):c.1559T>C (p.Leu520Pro) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000055831] Chr2:19946536 [GRCh38]
Chr2:20146297 [GRCh37]
Chr2:2p24.1
pathogenic
NM_020779.4(WDR35):c.25-2A>C single nucleotide variant Cranioectodermal dysplasia 2 [RCV000055832] Chr2:19989284 [GRCh38]
Chr2:20189045 [GRCh37]
Chr2:2p24.1
pathogenic
NM_020779.4(WDR35):c.2879A>G (p.Tyr960Cys) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000055834] Chr2:19931354 [GRCh38]
Chr2:20131115 [GRCh37]
Chr2:2p24.1
pathogenic
NM_020779.4(WDR35):c.504T>A (p.Ser168Arg) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000055835] Chr2:19975596 [GRCh38]
Chr2:20175357 [GRCh37]
Chr2:2p24.1
pathogenic
NM_020779.4(WDR35):c.1526G>T (p.Gly509Val) single nucleotide variant not provided [RCV000079359] Chr2:19946569 [GRCh38]
Chr2:20146330 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2566G>T (p.Val856Phe) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000279775]|Cranioectodermal dysplasia 2 [RCV000545999]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000375441]|none provided [RCV001283544]|not specified [RCV000079360] Chr2:19933493 [GRCh38]
Chr2:20133254 [GRCh37]
Chr2:2p24.1
benign|likely benign
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000355002]|Cranioectodermal dysplasia 2 [RCV000554501]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000297051]|none provided [RCV001282615]|not specified [RCV000176044] Chr2:19937861 [GRCh38]
Chr2:20137622 [GRCh37]
Chr2:2p24.1
benign|likely benign
NM_020779.4(WDR35):c.2356A>C (p.Ser786Arg) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001348875] Chr2:19936277 [GRCh38]
Chr2:20136038 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000308975]|Cranioectodermal dysplasia 2 [RCV000537286]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000406382]|not provided [RCV001556776]|not specified [RCV000180197] Chr2:19973675 [GRCh38]
Chr2:20173436 [GRCh37]
Chr2:2p24.1
benign|likely benign|uncertain significance
NM_020779.4(WDR35):c.670T>C (p.Cys224Arg) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001295350] Chr2:19974534 [GRCh38]
Chr2:20174295 [GRCh37]
Chr2:2p24.1
uncertain significance
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2
pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 copy number gain See cases [RCV000137344] Chr2:17019..26318846 [GRCh38]
Chr2:17019..26541714 [GRCh37]
Chr2:7019..26395218 [NCBI36]
Chr2:2p25.3-23.3
pathogenic
GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3 copy number gain See cases [RCV000137913] Chr2:1664615..23664142 [GRCh38]
Chr2:1668387..23887012 [GRCh37]
Chr2:1647394..23740517 [NCBI36]
Chr2:2p25.3-24.1
pathogenic|likely pathogenic
GRCh38/hg38 2p24.2-24.1(chr2:16723596-21600734)x1 copy number loss See cases [RCV000139451] Chr2:16723596..21600734 [GRCh38]
Chr2:16904863..21823606 [GRCh37]
Chr2:16768344..21677111 [NCBI36]
Chr2:2p24.2-24.1
pathogenic|likely pathogenic
GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3 copy number gain See cases [RCV000141226] Chr2:17019..20001056 [GRCh38]
Chr2:17019..20200817 [GRCh37]
Chr2:7019..20064298 [NCBI36]
Chr2:2p25.3-24.1
pathogenic
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3
pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3 copy number gain See cases [RCV000141877] Chr2:12770..25039694 [GRCh38]
Chr2:12770..25262563 [GRCh37]
Chr2:2770..25116067 [NCBI36]
Chr2:2p25.3-23.3
pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh38/hg38 2p24.1(chr2:19667198-20009783)x3 copy number gain See cases [RCV000142182] Chr2:19667198..20009783 [GRCh38]
Chr2:19866959..20209544 [GRCh37]
Chr2:19730440..20073025 [NCBI36]
Chr2:2p24.1
likely benign|uncertain significance
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21
pathogenic
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000986592]|Cranioectodermal dysplasia 2 [RCV001511616]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000351966]|not specified [RCV000154141] Chr2:19931318 [GRCh38]
Chr2:20131079 [GRCh37]
Chr2:2p24.1
benign
NM_020779.4(WDR35):c.2824-14G>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV000405575]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000306608]|not specified [RCV000154143] Chr2:19931423 [GRCh38]
Chr2:20131184 [GRCh37]
Chr2:2p24.1
benign
NM_020779.4(WDR35):c.2885T>G (p.Leu962Arg) single nucleotide variant not provided [RCV000154142] Chr2:19931348 [GRCh38]
Chr2:20131109 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1195-1693A>G single nucleotide variant Cranioectodermal dysplasia 2 [RCV000324065]|Cranioectodermal dysplasia 2 [RCV001087229]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000266638]|not provided [RCV000154144] Chr2:19962307 [GRCh38]
Chr2:20162068 [GRCh37]
Chr2:2p24.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2p24.1(chr2:19726367-20251569)x3 copy number gain See cases [RCV000240252] Chr2:19726367..20251569 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2066G>A (p.Arg689His) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000648352]|Cranioectodermal dysplasia 2 [RCV001143633]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001143632]|none provided [RCV001283561]|not specified [RCV000194057] Chr2:19937944 [GRCh38]
Chr2:20137705 [GRCh37]
Chr2:2p24.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020779.4(WDR35):c.1376G>A (p.Arg459Gln) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001139308]|Cranioectodermal dysplasia 2 [RCV001338425]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001139309]|not specified [RCV000194637] Chr2:19953858 [GRCh38]
Chr2:20153619 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000363678]|Cranioectodermal dysplasia 2 [RCV001078877]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000266710]|not provided [RCV000176461] Chr2:19932329 [GRCh38]
Chr2:20132090 [GRCh37]
Chr2:2p24.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020779.4(WDR35):c.*1062G>A single nucleotide variant Cranioectodermal dysplasia 2 [RCV000260527]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000315854] Chr2:19912496 [GRCh38]
Chr2:20112257 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.549C>T (p.Tyr183=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000315882]|Cranioectodermal dysplasia 2 [RCV000556548]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000260588]|none provided [RCV001000214] Chr2:19975551 [GRCh38]
Chr2:20175312 [GRCh37]
Chr2:2p24.1
benign|likely benign
NM_020779.4(WDR35):c.*2797G>A single nucleotide variant Cranioectodermal dysplasia 2 [RCV000359539]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000264155] Chr2:19910761 [GRCh38]
Chr2:20110522 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*601A>G single nucleotide variant Cranioectodermal dysplasia 2 [RCV000354680]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000260856] Chr2:19912957 [GRCh38]
Chr2:20112718 [GRCh37]
Chr2:2p24.1
likely benign|uncertain significance
NM_020779.4(WDR35):c.*3225G>A single nucleotide variant Cranioectodermal dysplasia 2 [RCV000262507]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000375930] Chr2:19910333 [GRCh38]
Chr2:20110094 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*763T>C single nucleotide variant Cranioectodermal dysplasia 2 [RCV000299814]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000263299] Chr2:19912795 [GRCh38]
Chr2:20112556 [GRCh37]
Chr2:2p24.1
likely benign|uncertain significance
NM_020779.4(WDR35):c.1435A>G (p.Met479Val) single nucleotide variant not provided [RCV000724941]|not specified [RCV000193041] Chr2:19951450 [GRCh38]
Chr2:20151211 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1029T>C (p.Thr343=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000407907]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000292694] Chr2:19966889 [GRCh38]
Chr2:20166650 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.215-4C>G single nucleotide variant Cranioectodermal dysplasia 2 [RCV000295469]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000345746]|not provided [RCV000945640] Chr2:19980787 [GRCh38]
Chr2:20180548 [GRCh37]
Chr2:2p24.1
likely benign|uncertain significance
NM_020779.4(WDR35):c.1697C>T (p.Thr566Met) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000300086]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000392903] Chr2:19945934 [GRCh38]
Chr2:20145695 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1255+1G>A single nucleotide variant Cranioectodermal dysplasia 2 [RCV000797932]|not provided [RCV000301418] Chr2:19960553 [GRCh38]
Chr2:20160314 [GRCh37]
Chr2:2p24.1
pathogenic|likely pathogenic
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000273395]|Cranioectodermal dysplasia 2 [RCV000878115]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000312074]|not provided [RCV001574327] Chr2:19946504 [GRCh38]
Chr2:20146265 [GRCh37]
Chr2:2p24.1
benign|likely benign|uncertain significance
NM_020779.4(WDR35):c.1089G>A (p.Thr363=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000284318]|Cranioectodermal dysplasia 2 [RCV000877834]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000376464]|none provided [RCV001286071] Chr2:19966829 [GRCh38]
Chr2:20166590 [GRCh37]
Chr2:2p24.1
benign|uncertain significance
NM_020779.4(WDR35):c.2220C>T (p.Phe740=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000355426]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000262901]|not provided [RCV000878303] Chr2:19937790 [GRCh38]
Chr2:20137551 [GRCh37]
Chr2:2p24.1
likely benign|uncertain significance
NM_020779.4(WDR35):c.766G>A (p.Val256Ile) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000358828]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000264019] Chr2:19973679 [GRCh38]
Chr2:20173440 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1753G>A (p.Val585Ile) single nucleotide variant Cranioectodermal dysplasia [RCV000287272]|Short Rib Polydactyly Syndrome [RCV000339985] Chr2:19945878 [GRCh38]
Chr2:20145639 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000986593]|Cranioectodermal dysplasia 2 [RCV001515389]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000265624]|none provided [RCV000506263] Chr2:19933460 [GRCh38]
Chr2:20133221 [GRCh37]
Chr2:2p24.1
benign|likely benign
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000280618]|Cranioectodermal dysplasia 2 [RCV001085930]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000375021]|not provided [RCV000767100]|not specified [RCV000356360] Chr2:19978832 [GRCh38]
Chr2:20178593 [GRCh37]
Chr2:2p24.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020779.4(WDR35):c.3121+3G>A single nucleotide variant Cranioectodermal dysplasia 2 [RCV000270942]|Cranioectodermal dysplasia 2 [RCV000878289]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000323605]|not provided [RCV001573020]|not specified [RCV000331902] Chr2:19930393 [GRCh38]
Chr2:20130154 [GRCh37]
Chr2:2p24.1
likely benign|uncertain significance
NM_020779.4(WDR35):c.3193T>A (p.Cys1065Ser) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000368976]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000272118] Chr2:19914206 [GRCh38]
Chr2:20113967 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1755C>T (p.Val585=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000756919]|not specified [RCV000999908] Chr2:19945876 [GRCh38]
Chr2:20145637 [GRCh37]
Chr2:2p24.1
benign|likely benign
NM_020779.4(WDR35):c.143-18T>A single nucleotide variant Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000578492] Chr2:19982552 [GRCh38]
Chr2:20182313 [GRCh37]
Chr2:2p24.1
pathogenic
NM_020779.4(WDR35):c.24+4A>G single nucleotide variant Cranioectodermal dysplasia 2 [RCV000346522]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000391056] Chr2:19989988 [GRCh38]
Chr2:20189749 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000324159]|Cranioectodermal dysplasia 2 [RCV001480464]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000358005]|not provided [RCV000733656] Chr2:19932428 [GRCh38]
Chr2:20132189 [GRCh37]
Chr2:2p24.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020779.4(WDR35):c.1195-1682C>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV000325069]|Cranioectodermal dysplasia 2 [RCV001058851]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000382043]|not provided [RCV000731246] Chr2:19962296 [GRCh38]
Chr2:20162057 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.3279G>C (p.Gln1093His) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000405190]|Cranioectodermal dysplasia 2 [RCV000945632]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000311978] Chr2:19914120 [GRCh38]
Chr2:20113881 [GRCh37]
Chr2:2p24.1
benign|uncertain significance
NM_020779.4(WDR35):c.1058G>C (p.Arg353Pro) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000375359]|Cranioectodermal dysplasia 2 [RCV001081195]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000337062]|not provided [RCV000507596] Chr2:19966860 [GRCh38]
Chr2:20166621 [GRCh37]
Chr2:2p24.1
benign|likely benign|uncertain significance
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000370428]|Cranioectodermal dysplasia 2 [RCV000878017]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000313381]|none provided [RCV001286039]|not provided [RCV001555209] Chr2:19946494 [GRCh38]
Chr2:20146255 [GRCh37]
Chr2:2p24.1
benign|likely benign
NM_020779.4(WDR35):c.2515A>G (p.Ile839Val) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000389282]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000332425] Chr2:19935503 [GRCh38]
Chr2:20135264 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1636C>T (p.Arg546Cys) single nucleotide variant Cranioectodermal dysplasia [RCV000404364]|Short Rib Polydactyly Syndrome [RCV000338739] Chr2:19945995 [GRCh38]
Chr2:20145756 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2984G>T (p.Gly995Val) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000374606]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000322376] Chr2:19930533 [GRCh38]
Chr2:20130294 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*2029GTCT[1] microsatellite Cranioectodermal dysplasia [RCV000273680]|Short Rib Polydactyly Syndrome [RCV000328638] Chr2:19911522..19911525 [GRCh38]
Chr2:20111283..20111286 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*563T>G single nucleotide variant Cranioectodermal dysplasia 2 [RCV000331068]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000273761] Chr2:19912995 [GRCh38]
Chr2:20112756 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000283688]|Cranioectodermal dysplasia 2 [RCV001058852]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000380540]|none provided [RCV001001016] Chr2:19930491 [GRCh38]
Chr2:20130252 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*1668A>C single nucleotide variant Cranioectodermal dysplasia 2 [RCV000285139]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000321486] Chr2:19911890 [GRCh38]
Chr2:20111651 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*523G>A single nucleotide variant Cranioectodermal dysplasia 2 [RCV000342398]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000285349] Chr2:19913035 [GRCh38]
Chr2:20112796 [GRCh37]
Chr2:2p24.1
benign
NM_020779.4(WDR35):c.*1489G>A single nucleotide variant Cranioectodermal dysplasia 2 [RCV000278950]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000352793] Chr2:19912069 [GRCh38]
Chr2:20111830 [GRCh37]
Chr2:2p24.1
benign|likely benign
NM_020779.4(WDR35):c.1053T>C (p.Pro351=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000282180]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000337183] Chr2:19966865 [GRCh38]
Chr2:20166626 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*1582C>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV000282573]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000376163] Chr2:19911976 [GRCh38]
Chr2:20111737 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2965-4G>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV000282531]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000334458]|not provided [RCV000949156] Chr2:19930556 [GRCh38]
Chr2:20130317 [GRCh37]
Chr2:2p24.1
likely benign|uncertain significance
NM_020779.4(WDR35):c.*2463C>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV000284420]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000338388] Chr2:19911095 [GRCh38]
Chr2:20110856 [GRCh37]
Chr2:2p24.1
benign|likely benign
NM_020779.4(WDR35):c.*1253C>G single nucleotide variant Cranioectodermal dysplasia 2 [RCV000269690]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000306085] Chr2:19912305 [GRCh38]
Chr2:20112066 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.25-46G>A single nucleotide variant not specified [RCV000247541] Chr2:19989328 [GRCh38]
Chr2:20189089 [GRCh37]
Chr2:2p24.1
benign
NM_020779.4(WDR35):c.2496A>G (p.Glu832=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000349787]|Cranioectodermal dysplasia 2 [RCV001521673]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000292631]|not specified [RCV000252482] Chr2:19935522 [GRCh38]
Chr2:20135283 [GRCh37]
Chr2:2p24.1
benign
NM_020779.4(WDR35):c.*1129C>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV000360780]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000266035] Chr2:19912429 [GRCh38]
Chr2:20112190 [GRCh37]
Chr2:2p24.1
benign|likely benign
NM_020779.4(WDR35):c.*3235C>A single nucleotide variant Cranioectodermal dysplasia 2 [RCV000321249]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000266424] Chr2:19910323 [GRCh38]
Chr2:20110084 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1250A>T (p.Asp417Val) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000272441]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000364702] Chr2:19960559 [GRCh38]
Chr2:20160320 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*2408G>C single nucleotide variant Cranioectodermal dysplasia 2 [RCV000404537]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000298684] Chr2:19911150 [GRCh38]
Chr2:20110911 [GRCh37]
Chr2:2p24.1
benign|likely benign
NM_020779.4(WDR35):c.*98T>C single nucleotide variant Cranioectodermal dysplasia 2 [RCV000369968]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000299020] Chr2:19913460 [GRCh38]
Chr2:20113221 [GRCh37]
Chr2:2p24.1
benign|likely benign
NM_020779.4(WDR35):c.847G>A (p.Val283Met) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000352141]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000407890] Chr2:19973598 [GRCh38]
Chr2:20173359 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*231C>A single nucleotide variant Cranioectodermal dysplasia 2 [RCV000406002]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000336750] Chr2:19913327 [GRCh38]
Chr2:20113088 [GRCh37]
Chr2:2p24.1
benign
NM_020779.4(WDR35):c.2262C>T (p.Asp754=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000302964]|Cranioectodermal dysplasia 2 [RCV000878114]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000404880]|not provided [RCV001569598] Chr2:19937748 [GRCh38]
Chr2:20137509 [GRCh37]
Chr2:2p24.1
benign|likely benign|uncertain significance
NM_020779.4(WDR35):c.*795C>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV000358055]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000303155] Chr2:19912763 [GRCh38]
Chr2:20112524 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*2990G>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV000317675]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000372551] Chr2:19910568 [GRCh38]
Chr2:20110329 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*2619C>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV000287945]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000382139] Chr2:19910939 [GRCh38]
Chr2:20110700 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2268-11T>G single nucleotide variant Cranioectodermal dysplasia 2 [RCV000342664]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000304088] Chr2:19936376 [GRCh38]
Chr2:20136137 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*2836C>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV000402768]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000304822] Chr2:19910722 [GRCh38]
Chr2:20110483 [GRCh37]
Chr2:2p24.1
benign|likely benign
NM_020779.4(WDR35):c.*1127A>G single nucleotide variant Cranioectodermal dysplasia 2 [RCV000373973]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000321173] Chr2:19912431 [GRCh38]
Chr2:20112192 [GRCh37]
Chr2:2p24.1
benign|likely benign
NM_020779.4(WDR35):c.*553G>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV000383326]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000291160] Chr2:19913005 [GRCh38]
Chr2:20112766 [GRCh37]
Chr2:2p24.1
benign|likely benign
NM_020779.4(WDR35):c.*2622A>G single nucleotide variant Cranioectodermal dysplasia 2 [RCV000291338]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000327592] Chr2:19910936 [GRCh38]
Chr2:20110697 [GRCh37]
Chr2:2p24.1
benign|uncertain significance
NM_020779.4(WDR35):c.*1006G>A single nucleotide variant Cranioectodermal dysplasia 2 [RCV000291107]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000346297] Chr2:19912552 [GRCh38]
Chr2:20112313 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*3268C>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV000306257]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000361079] Chr2:19910290 [GRCh38]
Chr2:20110051 [GRCh37]
Chr2:2p24.1
benign|likely benign
NM_020779.4(WDR35):c.*998A>G single nucleotide variant Cranioectodermal dysplasia 2 [RCV000405249]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000306532] Chr2:19912560 [GRCh38]
Chr2:20112321 [GRCh37]
Chr2:2p24.1
likely benign|uncertain significance
NM_020779.4(WDR35):c.*813A>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV000390562]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000342771] Chr2:19912745 [GRCh38]
Chr2:20112506 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*2559A>G single nucleotide variant Cranioectodermal dysplasia 2 [RCV000407350]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000342945] Chr2:19910999 [GRCh38]
Chr2:20110760 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.798C>T (p.Ser266=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000362407]|Cranioectodermal dysplasia 2 [RCV001490944]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000307756]|not provided [RCV001546601] Chr2:19973647 [GRCh38]
Chr2:20173408 [GRCh37]
Chr2:2p24.1
likely benign|uncertain significance
NM_020779.4(WDR35):c.765C>T (p.Tyr255=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000323799]|Cranioectodermal dysplasia 2 [RCV000950559]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000359829] Chr2:19973680 [GRCh38]
Chr2:20173441 [GRCh37]
Chr2:2p24.1
benign|uncertain significance
NM_020779.4(WDR35):c.*531T>A single nucleotide variant Cranioectodermal dysplasia 2 [RCV000382101]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000343721] Chr2:19913027 [GRCh38]
Chr2:20112788 [GRCh37]
Chr2:2p24.1
likely benign|uncertain significance
NM_020779.4(WDR35):c.*2887T>C single nucleotide variant Cranioectodermal dysplasia 2 [RCV000344317]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000308116] Chr2:19910671 [GRCh38]
Chr2:20110432 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*1681A>G single nucleotide variant Cranioectodermal dysplasia 2 [RCV000379573]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000325120] Chr2:19911877 [GRCh38]
Chr2:20111638 [GRCh37]
Chr2:2p24.1
likely benign|uncertain significance
NM_020779.4(WDR35):c.*1050T>C single nucleotide variant Cranioectodermal dysplasia 2 [RCV000294505]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000389045] Chr2:19912508 [GRCh38]
Chr2:20112269 [GRCh37]
Chr2:2p24.1
benign|likely benign
NM_020779.4(WDR35):c.*1270C>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV000309202]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000363930] Chr2:19912288 [GRCh38]
Chr2:20112049 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1871T>G (p.Ile624Ser) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000379442]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000345873]|not provided [RCV000479557] Chr2:19941814 [GRCh38]
Chr2:20141575 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2065C>T (p.Arg689Cys) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000328331]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000385221] Chr2:19937945 [GRCh38]
Chr2:20137706 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*2957G>A single nucleotide variant Cranioectodermal dysplasia 2 [RCV000405912]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000347663] Chr2:19910601 [GRCh38]
Chr2:20110362 [GRCh37]
Chr2:2p24.1
benign|likely benign
NM_020779.4(WDR35):c.3121+12A>C single nucleotide variant Cranioectodermal dysplasia 2 [RCV000329579]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000362713]|not specified [RCV000613733] Chr2:19930384 [GRCh38]
Chr2:20130145 [GRCh37]
Chr2:2p24.1
benign|likely benign
NM_020779.4(WDR35):c.2836G>A (p.Glu946Lys) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000312305]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000364596] Chr2:19931397 [GRCh38]
Chr2:20131158 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*2623T>C single nucleotide variant Cranioectodermal dysplasia 2 [RCV000330863]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000385727] Chr2:19910935 [GRCh38]
Chr2:20110696 [GRCh37]
Chr2:2p24.1
benign|uncertain significance
NM_020779.4(WDR35):c.*1038C>G single nucleotide variant Cranioectodermal dysplasia 2 [RCV000385369]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000349444] Chr2:19912520 [GRCh38]
Chr2:20112281 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*1479C>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV000313214]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000403525] Chr2:19912079 [GRCh38]
Chr2:20111840 [GRCh37]
Chr2:2p24.1
benign|likely benign
NM_020779.4(WDR35):c.*573A>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV000332380]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000389217] Chr2:19912985 [GRCh38]
Chr2:20112746 [GRCh37]
Chr2:2p24.1
likely benign|uncertain significance
NM_020779.4(WDR35):c.*1934A>G single nucleotide variant Cranioectodermal dysplasia 2 [RCV000364671]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000270103] Chr2:19911624 [GRCh38]
Chr2:20111385 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*3269G>A single nucleotide variant Cranioectodermal dysplasia 2 [RCV000364625]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000269873] Chr2:19910289 [GRCh38]
Chr2:20110050 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2137G>A (p.Asp713Asn) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000334125]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000276589] Chr2:19937873 [GRCh38]
Chr2:20137634 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.3467T>G (p.Ile1156Arg) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001086217]|not provided [RCV000377253] Chr2:19913604 [GRCh38]
Chr2:20113365 [GRCh37]
Chr2:2p24.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020779.4(WDR35):c.*2726A>G single nucleotide variant Cranioectodermal dysplasia 2 [RCV000315636]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000260587] Chr2:19910832 [GRCh38]
Chr2:20110593 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2998G>T (p.Glu1000Ter) single nucleotide variant not provided [RCV000393769] Chr2:19930519 [GRCh38]
Chr2:20130280 [GRCh37]
Chr2:2p24.1
pathogenic
NM_020779.4(WDR35):c.1468del (p.Gln490fs) deletion SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY [RCV000578495]|Short Rib Polydactyly Syndrome [RCV000851219]|not provided [RCV000323877] Chr2:19951417 [GRCh38]
Chr2:20151178 [GRCh37]
Chr2:2p24.1
pathogenic|likely pathogenic
NM_020779.4(WDR35):c.450G>C (p.Trp150Cys) single nucleotide variant not provided [RCV000279316] Chr2:19975650 [GRCh38]
Chr2:20175411 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*1575_*1576dup duplication Cranioectodermal dysplasia [RCV000337571]|Short Rib Polydactyly Syndrome [RCV000408274] Chr2:19911981..19911982 [GRCh38]
Chr2:20111742..20111743 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.1227A>G (p.Thr409=) single nucleotide variant not provided [RCV000317233] Chr2:19960582 [GRCh38]
Chr2:20160343 [GRCh37]
Chr2:2p24.1
conflicting interpretations of pathogenicity|uncertain significance
NM_020779.4(WDR35):c.1195-1705C>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV001089185]|not provided [RCV000318761] Chr2:19962319 [GRCh38]
Chr2:20162080 [GRCh37]
Chr2:2p24.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020779.4(WDR35):c.3252G>A (p.Glu1084=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001088237]|not provided [RCV000352423] Chr2:19914147 [GRCh38]
Chr2:20113908 [GRCh37]
Chr2:2p24.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020779.4(WDR35):c.2107A>G (p.Thr703Ala) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000275532]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000386243] Chr2:19937903 [GRCh38]
Chr2:20137664 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*2725G>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV000275758]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000370271] Chr2:19910833 [GRCh38]
Chr2:20110594 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.3372G>A (p.Gly1124=) single nucleotide variant not provided [RCV000393052] Chr2:19913699 [GRCh38]
Chr2:20113460 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001086026]|Cranioectodermal dysplasia 2 [RCV001143732]|Short rib-polydactyly syndrome, Majewski type [RCV000515966]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001143733]|none provided [RCV001284839]|not provided [RCV000395590] Chr2:19966735 [GRCh38]
Chr2:20166496 [GRCh37]
Chr2:2p24.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020779.4(WDR35):c.2109T>G (p.Thr703=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001479098]|not provided [RCV000297454] Chr2:19937901 [GRCh38]
Chr2:20137662 [GRCh37]
Chr2:2p24.1
likely benign|uncertain significance
NM_020779.4(WDR35):c.883-160dup duplication not provided [RCV001567316] Chr2:19969748..19969749 [GRCh38]
Chr2:20169509..20169510 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.324_325dup (p.Met109fs) microsatellite not specified [RCV000508517] Chr2:19978861..19978862 [GRCh38]
Chr2:20178622..20178623 [GRCh37]
Chr2:2p24.1
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_020779.4(WDR35):c.2492A>G (p.Tyr831Cys) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000291410]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000392435] Chr2:19935526 [GRCh38]
Chr2:20135287 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*380G>A single nucleotide variant Cranioectodermal dysplasia 2 [RCV000302909]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000392807] Chr2:19913178 [GRCh38]
Chr2:20112939 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.308G>C (p.Gly103Ala) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000389678]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000330503] Chr2:19978879 [GRCh38]
Chr2:20178640 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*2962C>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV000387491]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000292760] Chr2:19910596 [GRCh38]
Chr2:20110357 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_002381.5(MATN3):c.*176C>T single nucleotide variant Cranioectodermal dysplasia [RCV000333267]|Multiple Epiphyseal Dysplasia, Dominant [RCV000362072]|Multiple epiphyseal dysplasia type 5 [RCV001142137]|Short Rib Polydactyly Syndrome [RCV000385559] Chr2:19992935 [GRCh38]
Chr2:20192696 [GRCh37]
Chr2:2p24.1
benign
NM_020779.4(WDR35):c.2956A>G (p.Ser986Gly) single nucleotide variant Cranioectodermal dysplasia [RCV000408304]|Short Rib Polydactyly Syndrome [RCV000294713] Chr2:19931277 [GRCh38]
Chr2:20131038 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*1461A>C single nucleotide variant Cranioectodermal dysplasia 2 [RCV000367842]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000405584] Chr2:19912097 [GRCh38]
Chr2:20111858 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_002381.5(MATN3):c.1406-4C>T single nucleotide variant Cranioectodermal dysplasia [RCV000293592]|Multiple Epiphyseal Dysplasia, Dominant [RCV000299140]|Multiple epiphyseal dysplasia type 5 [RCV001142140]|Short Rib Polydactyly Syndrome [RCV000345898]|not provided [RCV001519619]|not specified [RCV000253288] Chr2:19993170 [GRCh38]
Chr2:20192931 [GRCh37]
Chr2:2p24.1
benign|likely benign
NM_020779.4(WDR35):c.*2989C>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV000351586]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000296779] Chr2:19910569 [GRCh38]
Chr2:20110330 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*2341G>C single nucleotide variant Cranioectodermal dysplasia 2 [RCV000395986]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000353599] Chr2:19911217 [GRCh38]
Chr2:20110978 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*2748G>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV000300640]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000355371] Chr2:19910810 [GRCh38]
Chr2:20110571 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001139539]|Cranioectodermal dysplasia 2 [RCV001522540]|Cranioectodermal dysplasia [RCV000291625]|Multiple Epiphyseal Dysplasia, Dominant [RCV000294691]|Short Rib Polydactyly Syndrome [RCV000391047]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001139538]|not specified [RCV000607352] Chr2:19989254 [GRCh38]
Chr2:20189015 [GRCh37]
Chr2:2p24.1
benign|likely benign
NM_020779.4(WDR35):c.*2288C>T single nucleotide variant Cranioectodermal dysplasia [RCV000313617]|Short Rib Polydactyly Syndrome [RCV000368273] Chr2:19911270 [GRCh38]
Chr2:20111031 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2400T>C (p.Ala800=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000343945]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000392437] Chr2:19936233 [GRCh38]
Chr2:20135994 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.958C>A (p.Leu320Ile) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001139423]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001139422] Chr2:19969530 [GRCh38]
Chr2:20169291 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.3058C>T (p.His1020Tyr) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000578480] Chr2:19930459 [GRCh38]
Chr2:20130220 [GRCh37]
Chr2:2p24.1
pathogenic|uncertain significance
NM_020779.4(WDR35):c.725A>G (p.Glu242Gly) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000552925] Chr2:19974479 [GRCh38]
Chr2:20174240 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.1051C>G (p.Pro351Ala) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001139418]|Cranioectodermal dysplasia 2 [RCV001370744]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001139419]|not provided [RCV000592980] Chr2:19966867 [GRCh38]
Chr2:20166628 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2524C>T (p.Pro842Ser) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001343605]|not provided [RCV000521433] Chr2:19935494 [GRCh38]
Chr2:20135255 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.318T>C (p.Ile106=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000878629]|not specified [RCV000593685] Chr2:19978869 [GRCh38]
Chr2:20178630 [GRCh37]
Chr2:2p24.1
benign
NM_020779.4(WDR35):c.*2629T>A single nucleotide variant Cranioectodermal dysplasia 2 [RCV001138581]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001138582] Chr2:19910929 [GRCh38]
Chr2:20110690 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*271A>G single nucleotide variant Cranioectodermal dysplasia 2 [RCV001138986]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001138985] Chr2:19913287 [GRCh38]
Chr2:20113048 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*1960G>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV001138682]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001138683] Chr2:19911598 [GRCh38]
Chr2:20111359 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1072G>A (p.Val358Ile) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001137179]|Cranioectodermal dysplasia 2 [RCV001351694]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001137180]|not provided [RCV000591516] Chr2:19966846 [GRCh38]
Chr2:20166607 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.760A>G (p.Met254Val) single nucleotide variant not provided [RCV000592028] Chr2:19973685 [GRCh38]
Chr2:20173446 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2910C>A (p.Tyr970Ter) single nucleotide variant not provided [RCV000722284] Chr2:19931323 [GRCh38]
Chr2:20131084 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1408C>G (p.His470Asp) single nucleotide variant not provided [RCV000722959] Chr2:19951477 [GRCh38]
Chr2:20151238 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1400G>A (p.Arg467Lys) single nucleotide variant Short Rib Polydactyly Syndrome [RCV000851216]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000755706] Chr2:19953834 [GRCh38]
Chr2:20153595 [GRCh37]
Chr2:2p24.1
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_020779.4(WDR35):c.143-4T>C single nucleotide variant not provided [RCV000731282] Chr2:19982538 [GRCh38]
Chr2:20182299 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.664C>G (p.Pro222Ala) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000555798] Chr2:19974540 [GRCh38]
Chr2:20174301 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.584_585del (p.Leu195fs) deletion not provided [RCV000413586] Chr2:19974619..19974620 [GRCh38]
Chr2:20174380..20174381 [GRCh37]
Chr2:2p24.1
likely pathogenic
NM_020779.4(WDR35):c.2446C>T (p.Arg816Trp) single nucleotide variant not provided [RCV000522912] Chr2:19935572 [GRCh38]
Chr2:20135333 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1930C>G (p.Pro644Ala) single nucleotide variant not provided [RCV000434466] Chr2:19938398 [GRCh38]
Chr2:20138159 [GRCh37]
Chr2:2p24.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_020779.4(WDR35):c.3495C>A (p.Cys1165Ter) single nucleotide variant not specified [RCV000503749] Chr2:19913576 [GRCh38]
Chr2:20113337 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2301G>A (p.Gly767=) single nucleotide variant not specified [RCV000502147] Chr2:19936332 [GRCh38]
Chr2:20136093 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.1382G>A (p.Arg461Gln) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000504572] Chr2:19953852 [GRCh38]
Chr2:20153613 [GRCh37]
Chr2:2p24.1
pathogenic|likely pathogenic
NM_020779.4(WDR35):c.2964+10C>A single nucleotide variant Cranioectodermal dysplasia 2 [RCV001088989]|Cranioectodermal dysplasia 2 [RCV001139096]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001139097]|not provided [RCV000727423]|not specified [RCV000500670] Chr2:19931259 [GRCh38]
Chr2:20131020 [GRCh37]
Chr2:2p24.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020779.4(WDR35):c.3335A>G (p.Lys1112Arg) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000964762]|not specified [RCV000508424] Chr2:19914064 [GRCh38]
Chr2:20113825 [GRCh37]
Chr2:2p24.1
likely benign|uncertain significance
Single allele variation not specified [RCV000508517] Chr2:20178623..20178624 [GRCh37]
Chr2:2p24.1
likely pathogenic
NM_020779.4(WDR35):c.3019C>T (p.Arg1007Cys) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000506222]|Cranioectodermal dysplasia 2 [RCV001136859]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001136858]|none provided [RCV000999756] Chr2:19930498 [GRCh38]
Chr2:20130259 [GRCh37]
Chr2:2p24.1
benign
NM_020779.4(WDR35):c.1471-7A>G single nucleotide variant Cranioectodermal dysplasia 2 [RCV000964763]|not specified [RCV000506845] Chr2:19948224 [GRCh38]
Chr2:20147985 [GRCh37]
Chr2:2p24.1
benign|likely benign
NM_020779.4(WDR35):c.1470+131T>A single nucleotide variant not specified [RCV000507316] Chr2:19951284 [GRCh38]
Chr2:20151045 [GRCh37]
Chr2:2p24.1
benign
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000578488]|Inborn genetic diseases [RCV001266500]|not specified [RCV000507380] Chr2:19914229 [GRCh38]
Chr2:20113990 [GRCh37]
Chr2:2p24.1
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_020779.4(WDR35):c.1400+3A>G single nucleotide variant Jeune thoracic dystrophy [RCV000516020] Chr2:19953831 [GRCh38]
Chr2:20153592 [GRCh37]
Chr2:2p24.1
pathogenic|likely pathogenic
NM_020779.4(WDR35):c.2489A>T (p.Asp830Val) single nucleotide variant Jeune thoracic dystrophy [RCV000516006] Chr2:19935529 [GRCh38]
Chr2:20135290 [GRCh37]
Chr2:2p24.1
pathogenic|likely pathogenic
NM_020779.4(WDR35):c.1846-30_1848del deletion Cranioectodermal dysplasia 2 [RCV000556416] Chr2:19941837..19941869 [GRCh38]
Chr2:20141598..20141630 [GRCh37]
Chr2:2p24.1
likely pathogenic
NM_020779.4(WDR35):c.666T>A (p.Pro222=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001472801]|not provided [RCV000532260] Chr2:19974538 [GRCh38]
Chr2:20174299 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000591001]|Short rib-polydactyly syndrome, Majewski type [RCV000515824] Chr2:19982471 [GRCh38]
Chr2:20182232 [GRCh37]
Chr2:2p24.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_020779.4(WDR35):c.2580G>A (p.Met860Ile) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000648350] Chr2:19933479 [GRCh38]
Chr2:20133240 [GRCh37]
Chr2:2p24.1
uncertain significance
GRCh37/hg19 2p24.1(chr2:19375553-20285159)x3 copy number gain not provided [RCV000682107] Chr2:19375553..20285159 [GRCh37]
Chr2:2p24.1
uncertain significance
GRCh37/hg19 2p24.1-23.3(chr2:19905995-24762790)x1 copy number loss not provided [RCV000682157] Chr2:19905995..24762790 [GRCh37]
Chr2:2p24.1-23.3
pathogenic
NM_020779.4(WDR35):c.1381C>T (p.Arg461Ter) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000693381] Chr2:19953853 [GRCh38]
Chr2:20153614 [GRCh37]
Chr2:2p24.1
pathogenic
NM_020779.4(WDR35):c.1195-1699dup duplication Cranioectodermal dysplasia 2 [RCV000691129] Chr2:19962311..19962312 [GRCh38]
Chr2:20162072..20162073 [GRCh37]
Chr2:2p24.1
pathogenic
NM_020779.4(WDR35):c.994C>T (p.Arg332Ter) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000703020] Chr2:19969494 [GRCh38]
Chr2:20169255 [GRCh37]
Chr2:2p24.1
pathogenic
NM_020779.4(WDR35):c.3345G>A (p.Leu1115=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000691580] Chr2:19914054 [GRCh38]
Chr2:20113815 [GRCh37]
Chr2:2p24.1
likely pathogenic
NM_020779.4(WDR35):c.2129G>T (p.Arg710Leu) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000702210] Chr2:19937881 [GRCh38]
Chr2:20137642 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.3398G>A (p.Gly1133Glu) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000688867] Chr2:19913673 [GRCh38]
Chr2:20113434 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2964+243T>G single nucleotide variant not provided [RCV001540624] Chr2:19931026 [GRCh38]
Chr2:20130787 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.1546C>T (p.Gln516Ter) single nucleotide variant Short Rib Polydactyly Syndrome [RCV000851217]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV000755720] Chr2:19946549 [GRCh38]
Chr2:20146310 [GRCh37]
Chr2:2p24.1
pathogenic|likely pathogenic
NM_020779.4(WDR35):c.2659-312_2659-311del microsatellite not provided [RCV001565409] Chr2:19932758..19932759 [GRCh38]
Chr2:20132519..20132520 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.2847A>G (p.Lys949=) single nucleotide variant not provided [RCV000897283] Chr2:19931386 [GRCh38]
Chr2:20131147 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.215-273C>T single nucleotide variant not provided [RCV001566600] Chr2:19981056 [GRCh38]
Chr2:20180817 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.1471-188A>G single nucleotide variant not provided [RCV001567673] Chr2:19948405 [GRCh38]
Chr2:20148166 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.3412G>A (p.Glu1138Lys) single nucleotide variant Ellis-van Creveld syndrome [RCV000754964] Chr2:19913659 [GRCh38]
Chr2:20113420 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.337C>T (p.Arg113Ter) single nucleotide variant not provided [RCV000760752] Chr2:19978850 [GRCh38]
Chr2:20178611 [GRCh37]
Chr2:2p24.1
likely pathogenic
NM_020779.4(WDR35):c.794G>T (p.Gly265Val) single nucleotide variant not provided [RCV000997037] Chr2:19973651 [GRCh38]
Chr2:20173412 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1861T>C (p.Ser621Pro) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001430031]|not provided [RCV000950575] Chr2:19941824 [GRCh38]
Chr2:20141585 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.2361C>T (p.Leu787=) single nucleotide variant not provided [RCV000921407] Chr2:19936272 [GRCh38]
Chr2:20136033 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.2326C>T (p.Leu776=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000879237] Chr2:19936307 [GRCh38]
Chr2:20136068 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.1305A>G (p.Lys435=) single nucleotide variant not provided [RCV000920728] Chr2:19953929 [GRCh38]
Chr2:20153690 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.308G>T (p.Gly103Val) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001041433] Chr2:19978879 [GRCh38]
Chr2:20178640 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2976del (p.Leu993fs) deletion Cranioectodermal dysplasia 2 [RCV001041434] Chr2:19930541 [GRCh38]
Chr2:20130302 [GRCh37]
Chr2:2p24.1
pathogenic
NM_020779.4(WDR35):c.3122-3T>C single nucleotide variant not provided [RCV000827170] Chr2:19914280 [GRCh38]
Chr2:20114041 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.2842A>T (p.Lys948Ter) single nucleotide variant WDR35-Related Disorders [RCV000778581] Chr2:19931391 [GRCh38]
Chr2:20131152 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1470+1G>A single nucleotide variant WDR35-Related Disorders [RCV000778582] Chr2:19951414 [GRCh38]
Chr2:20151175 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2877C>G (p.Leu959=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001471052]|not provided [RCV000904219] Chr2:19931356 [GRCh38]
Chr2:20131117 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.761T>C (p.Met254Thr) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000925439] Chr2:19973684 [GRCh38]
Chr2:20173445 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.1860C>T (p.Thr620=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000938489] Chr2:19941825 [GRCh38]
Chr2:20141586 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.2913T>C (p.His971=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001416196]|not provided [RCV000918635] Chr2:19931320 [GRCh38]
Chr2:20131081 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.681T>C (p.Leu227=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000950313] Chr2:19974523 [GRCh38]
Chr2:20174284 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.142+10T>C single nucleotide variant Cranioectodermal dysplasia 2 [RCV001514017]|not provided [RCV000951656] Chr2:19989155 [GRCh38]
Chr2:20188916 [GRCh37]
Chr2:2p24.1
benign
NM_020779.4(WDR35):c.2573T>C (p.Val858Ala) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001491396]|not provided [RCV000954000] Chr2:19933486 [GRCh38]
Chr2:20133247 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.2672T>C (p.Val891Ala) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000815151] Chr2:19932434 [GRCh38]
Chr2:20132195 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1542del (p.Ile515fs) deletion not provided [RCV000997036] Chr2:19946553 [GRCh38]
Chr2:20146314 [GRCh37]
Chr2:2p24.1
likely pathogenic
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000818716]|Cranioectodermal dysplasia 2 [RCV001140198]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001140199] Chr2:19973592 [GRCh38]
Chr2:20173353 [GRCh37]
Chr2:2p24.1
uncertain significance
GRCh37/hg19 2p24.1(chr2:20167711-20601004)x3 copy number gain not provided [RCV000848211] Chr2:20167711..20601004 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*978A>G single nucleotide variant Cranioectodermal dysplasia 2 [RCV001136643]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001136644] Chr2:19912580 [GRCh38]
Chr2:20112341 [GRCh37]
Chr2:2p24.1
benign
NM_020779.4(WDR35):c.2874G>T (p.Lys958Asn) single nucleotide variant WDR35-Related Disorders [RCV000785071] Chr2:19931359 [GRCh38]
Chr2:20131120 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1609C>G (p.Gln537Glu) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001137062]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001137061] Chr2:19946486 [GRCh38]
Chr2:20146247 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.10T>C (p.Tyr4His) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000796755] Chr2:19990006 [GRCh38]
Chr2:20189767 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1524+11C>A single nucleotide variant Cranioectodermal dysplasia 2 [RCV001139306]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001139307] Chr2:19948153 [GRCh38]
Chr2:20147914 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.*2239G>A single nucleotide variant Cranioectodermal dysplasia 2 [RCV001138259]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001138258] Chr2:19911319 [GRCh38]
Chr2:20111080 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*305T>C single nucleotide variant Cranioectodermal dysplasia 2 [RCV001136748]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001136749] Chr2:19913253 [GRCh38]
Chr2:20113014 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2455G>A (p.Glu819Lys) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001136958]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001136957] Chr2:19935563 [GRCh38]
Chr2:20135324 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*1218C>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV001138787]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001138786] Chr2:19912340 [GRCh38]
Chr2:20112101 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2298G>A (p.Leu766=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001139214]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001139213] Chr2:19936335 [GRCh38]
Chr2:20136096 [GRCh37]
Chr2:2p24.1
uncertain significance
GRCh37/hg19 2p24.3-24.1(chr2:15631145-21729493)x1 copy number loss not provided [RCV000847885] Chr2:15631145..21729493 [GRCh37]
Chr2:2p24.3-24.1
pathogenic
NM_020779.4(WDR35):c.*1957C>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV001138685]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001138684] Chr2:19911601 [GRCh38]
Chr2:20111362 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*1219G>A single nucleotide variant Cranioectodermal dysplasia 2 [RCV001138784]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001138785] Chr2:19912339 [GRCh38]
Chr2:20112100 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2164C>T (p.Arg722Cys) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001351708]|not specified [RCV001002153] Chr2:19937846 [GRCh38]
Chr2:20137607 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2447G>A (p.Arg816Gln) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001222931] Chr2:19935571 [GRCh38]
Chr2:20135332 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.707G>A (p.Cys236Tyr) single nucleotide variant not provided [RCV001093348] Chr2:19974497 [GRCh38]
Chr2:20174258 [GRCh37]
Chr2:2p24.1
pathogenic
NM_020779.4(WDR35):c.*635C>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV001141485]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001141486] Chr2:19912923 [GRCh38]
Chr2:20112684 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.737-104A>C single nucleotide variant not provided [RCV001546101] Chr2:19973812 [GRCh38]
Chr2:20173573 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.1255+237A>G single nucleotide variant not provided [RCV001566626] Chr2:19960317 [GRCh38]
Chr2:20160078 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.882+113C>T single nucleotide variant not provided [RCV001570934] Chr2:19973450 [GRCh38]
Chr2:20173211 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.1471-66C>T single nucleotide variant not provided [RCV001560639] Chr2:19948283 [GRCh38]
Chr2:20148044 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.2824-220A>G single nucleotide variant not provided [RCV001547880] Chr2:19931629 [GRCh38]
Chr2:20131390 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.867C>T (p.Tyr289=) single nucleotide variant not provided [RCV000945903] Chr2:19973578 [GRCh38]
Chr2:20173339 [GRCh37]
Chr2:2p24.1
benign
NM_020779.4(WDR35):c.2835A>G (p.Glu945=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV000951813] Chr2:19931398 [GRCh38]
Chr2:20131159 [GRCh37]
Chr2:2p24.1
benign
NM_020779.4(WDR35):c.2267+9T>C single nucleotide variant Cranioectodermal dysplasia 2 [RCV001139215]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001139216]|not provided [RCV000886470] Chr2:19937734 [GRCh38]
Chr2:20137495 [GRCh37]
Chr2:2p24.1
likely benign|uncertain significance
NM_020779.4(WDR35):c.1972C>T (p.Arg658Trp) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001207585] Chr2:19938356 [GRCh38]
Chr2:20138117 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*2160T>C single nucleotide variant Cranioectodermal dysplasia 2 [RCV001138680]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001138681] Chr2:19911398 [GRCh38]
Chr2:20111159 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*712A>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV001141483]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001141484] Chr2:19912846 [GRCh38]
Chr2:20112607 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1260A>G (p.Pro420=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001141931]|Cranioectodermal dysplasia 2 [RCV001415310]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001141932] Chr2:19953974 [GRCh38]
Chr2:20153735 [GRCh37]
Chr2:2p24.1
likely benign|uncertain significance
NM_020779.4(WDR35):c.507A>G (p.Lys169=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001142049]|Cranioectodermal dysplasia 2 [RCV001512911]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001142048] Chr2:19975593 [GRCh38]
Chr2:20175354 [GRCh37]
Chr2:2p24.1
benign|uncertain significance
NM_020779.4(WDR35):c.*1637C>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV001143102]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001143101] Chr2:19911921 [GRCh38]
Chr2:20111682 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1231T>G (p.Leu411Val) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001143731]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001143730] Chr2:19960578 [GRCh38]
Chr2:20160339 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2968A>G (p.Thr990Ala) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001243953] Chr2:19930549 [GRCh38]
Chr2:20130310 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.436+4A>G single nucleotide variant Cranioectodermal dysplasia 2 [RCV001225603] Chr2:19978747 [GRCh38]
Chr2:20178508 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1098T>C (p.Asn366=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001444907]|not provided [RCV000934049] Chr2:19966820 [GRCh38]
Chr2:20166581 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.3195C>T (p.Cys1065=) single nucleotide variant not provided [RCV000911714] Chr2:19914204 [GRCh38]
Chr2:20113965 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.1698G>A (p.Thr566=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001449218]|not provided [RCV000890882] Chr2:19945933 [GRCh38]
Chr2:20145694 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.1634+176G>A single nucleotide variant not provided [RCV001561972] Chr2:19946285 [GRCh38]
Chr2:20146046 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.1926+235A>G single nucleotide variant not provided [RCV001558720] Chr2:19941524 [GRCh38]
Chr2:20141285 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.1471-173G>C single nucleotide variant not provided [RCV001552252] Chr2:19948390 [GRCh38]
Chr2:20148151 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.1195-96T>C single nucleotide variant not provided [RCV001559021] Chr2:19960710 [GRCh38]
Chr2:20160471 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.2965-29C>T single nucleotide variant not provided [RCV001549943] Chr2:19930581 [GRCh38]
Chr2:20130342 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.2414+20C>T single nucleotide variant not provided [RCV001555613] Chr2:19936199 [GRCh38]
Chr2:20135960 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.2128C>T (p.Arg710Cys) single nucleotide variant not provided [RCV001555774] Chr2:19937882 [GRCh38]
Chr2:20137643 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1401-257C>T single nucleotide variant not provided [RCV001564896] Chr2:19951741 [GRCh38]
Chr2:20151502 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.2194A>C (p.Lys732Gln) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001141828]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001141827] Chr2:19937816 [GRCh38]
Chr2:20137577 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.3136G>C (p.Asp1046His) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001143423]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001143422] Chr2:19914263 [GRCh38]
Chr2:20114024 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2681C>T (p.Ala894Val) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001049475] Chr2:19932425 [GRCh38]
Chr2:20132186 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*1406A>G single nucleotide variant Cranioectodermal dysplasia 2 [RCV001136545]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001136544] Chr2:19912152 [GRCh38]
Chr2:20111913 [GRCh37]
Chr2:2p24.1
benign
NM_020779.4(WDR35):c.*1370G>A single nucleotide variant Cranioectodermal dysplasia 2 [RCV001136547]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001136546] Chr2:19912188 [GRCh38]
Chr2:20111949 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*1005C>A single nucleotide variant Cranioectodermal dysplasia 2 [RCV001136639]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001136640] Chr2:19912553 [GRCh38]
Chr2:20112314 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*807T>C single nucleotide variant Cranioectodermal dysplasia 2 [RCV001138893]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001138892] Chr2:19912751 [GRCh38]
Chr2:20112512 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.3460C>G (p.Gln1154Glu) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001141600]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001141601] Chr2:19913611 [GRCh38]
Chr2:20113372 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1348A>C (p.Thr450Pro) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001141929]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001141930] Chr2:19953886 [GRCh38]
Chr2:20153647 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*1821A>G single nucleotide variant Cranioectodermal dysplasia 2 [RCV001141261]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001141260] Chr2:19911737 [GRCh38]
Chr2:20111498 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*1207C>G single nucleotide variant Cranioectodermal dysplasia 2 [RCV001141365]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001141366] Chr2:19912351 [GRCh38]
Chr2:20112112 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*16T>C single nucleotide variant Cranioectodermal dysplasia 2 [RCV001141597]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001141596] Chr2:19913542 [GRCh38]
Chr2:20113303 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.3464A>C (p.Glu1155Ala) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001141599]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001141598] Chr2:19913607 [GRCh38]
Chr2:20113368 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*297A>G single nucleotide variant Cranioectodermal dysplasia 2 [RCV001138983]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001138984] Chr2:19913261 [GRCh38]
Chr2:20113022 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*1413C>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV001136543]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001136542] Chr2:19912145 [GRCh38]
Chr2:20111906 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*487C>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV001136747]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001136746] Chr2:19913071 [GRCh38]
Chr2:20112832 [GRCh37]
Chr2:2p24.1
benign
NM_020779.4(WDR35):c.2964+12C>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV001139095]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001139094] Chr2:19931257 [GRCh38]
Chr2:20131018 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.2999A>T (p.Glu1000Val) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001136861]|Cranioectodermal dysplasia 2 [RCV001306023]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001136860] Chr2:19930518 [GRCh38]
Chr2:20130279 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.976A>G (p.Ile326Val) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001139421]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001139420] Chr2:19969512 [GRCh38]
Chr2:20169273 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*1146T>C single nucleotide variant Cranioectodermal dysplasia 2 [RCV001141367]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001141368] Chr2:19912412 [GRCh38]
Chr2:20112173 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.437-13T>C single nucleotide variant Cranioectodermal dysplasia 2 [RCV001137290]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001137289] Chr2:19975676 [GRCh38]
Chr2:20175437 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.273A>G (p.Glu91=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001137292]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001137291] Chr2:19980725 [GRCh38]
Chr2:20180486 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2165G>A (p.Arg722His) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001141830]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001141829] Chr2:19937845 [GRCh38]
Chr2:20137606 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*2315G>C single nucleotide variant Cranioectodermal dysplasia 2 [RCV001138256]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001138257] Chr2:19911243 [GRCh38]
Chr2:20111004 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.*2228C>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV001138261]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001138260] Chr2:19911330 [GRCh38]
Chr2:20111091 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*2618G>A single nucleotide variant Cranioectodermal dysplasia 2 [RCV001143000]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001143001] Chr2:19910940 [GRCh38]
Chr2:20110701 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*1754C>G single nucleotide variant Cranioectodermal dysplasia 2 [RCV001141262]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001141263] Chr2:19911804 [GRCh38]
Chr2:20111565 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2936G>A (p.Arg979Gln) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001039598] Chr2:19931297 [GRCh38]
Chr2:20131058 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.66G>T (p.Trp22Cys) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001139537]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001139536] Chr2:19989241 [GRCh38]
Chr2:20189002 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*997T>C single nucleotide variant Cranioectodermal dysplasia 2 [RCV001136641]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001136642] Chr2:19912561 [GRCh38]
Chr2:20112322 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*747C>T single nucleotide variant Cranioectodermal dysplasia 2 [RCV001141481]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001141482] Chr2:19912811 [GRCh38]
Chr2:20112572 [GRCh37]
Chr2:2p24.1
uncertain significance
NC_000002.12:g.19910259G>A single nucleotide variant Cranioectodermal dysplasia 2 [RCV001141033]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001141034] Chr2:19910259 [GRCh38]
Chr2:20110020 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.*2620G>A single nucleotide variant Cranioectodermal dysplasia 2 [RCV001141157]|Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001141156] Chr2:19910938 [GRCh38]
Chr2:20110699 [GRCh37]
Chr2:2p24.1
uncertain significance
GRCh37/hg19 2p24.1(chr2:20026422-20115214)x1 copy number loss not provided [RCV001259155] Chr2:20026422..20115214 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.24+1G>T single nucleotide variant Inborn genetic diseases [RCV001266501] Chr2:19989991 [GRCh38]
Chr2:20189752 [GRCh37]
Chr2:2p24.1
likely pathogenic
NM_020779.4(WDR35):c.1362del (p.Asn455fs) deletion Cranioectodermal dysplasia 2 [RCV001334636] Chr2:19953872 [GRCh38]
Chr2:20153633 [GRCh37]
Chr2:2p24.1
pathogenic
NM_020779.4(WDR35):c.2617C>T (p.Gln873Ter) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001331439] Chr2:19933442 [GRCh38]
Chr2:20133203 [GRCh37]
Chr2:2p24.1
pathogenic
NM_020779.4(WDR35):c.529A>G (p.Asn177Asp) single nucleotide variant none provided [RCV001287413] Chr2:19975571 [GRCh38]
Chr2:20175332 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2800G>A (p.Asp934Asn) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001314453] Chr2:19932306 [GRCh38]
Chr2:20132067 [GRCh37]
Chr2:2p24.1
uncertain significance
NR_110235.1(WDR35-DT):n.19T>C single nucleotide variant not provided [RCV001539177] Chr2:19990222 [GRCh38]
Chr2:20189983 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.1301C>T (p.Ser434Leu) single nucleotide variant Short-rib thoracic dysplasia 7 with or without polydactyly [RCV001331438] Chr2:19953933 [GRCh38]
Chr2:20153694 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.817T>G (p.Phe273Val) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001373579] Chr2:19973628 [GRCh38]
Chr2:20173389 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1637G>A (p.Arg546His) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001334638] Chr2:19945994 [GRCh38]
Chr2:20145755 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2278A>G (p.Ile760Val) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001339728] Chr2:19936355 [GRCh38]
Chr2:20136116 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1195-1691T>C single nucleotide variant Cranioectodermal dysplasia 2 [RCV001364742] Chr2:19962305 [GRCh38]
Chr2:20162066 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2030A>G (p.Gln677Arg) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001342091] Chr2:19938298 [GRCh38]
Chr2:20138059 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.3254C>A (p.Thr1085Asn) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001315753] Chr2:19914145 [GRCh38]
Chr2:20113906 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1528C>T (p.Arg510Cys) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001370416] Chr2:19946567 [GRCh38]
Chr2:20146328 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1220T>C (p.Ile407Thr) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001372263] Chr2:19960589 [GRCh38]
Chr2:20160350 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.764A>G (p.Tyr255Cys) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001322698] Chr2:19973681 [GRCh38]
Chr2:20173442 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2116C>A (p.Gln706Lys) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001359851] Chr2:19937894 [GRCh38]
Chr2:20137655 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.742G>A (p.Val248Ile) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001337177] Chr2:19973703 [GRCh38]
Chr2:20173464 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.3363-29_3363-18del deletion Cranioectodermal dysplasia 2 [RCV001293395] Chr2:19913726..19913737 [GRCh38]
Chr2:20113487..20113498 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2272C>G (p.Leu758Val) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001294359] Chr2:19936361 [GRCh38]
Chr2:20136122 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.2149A>C (p.Ile717Leu) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001350529] Chr2:19937861 [GRCh38]
Chr2:20137622 [GRCh37]
Chr2:2p24.1
uncertain significance
NM_020779.4(WDR35):c.1140T>C (p.Thr380=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001465858] Chr2:19966778 [GRCh38]
Chr2:20166539 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.3207C>T (p.Ala1069=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001489219] Chr2:19914192 [GRCh38]
Chr2:20113953 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.2157T>C (p.Phe719=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001487958] Chr2:19937853 [GRCh38]
Chr2:20137614 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.2638dup (p.Thr880fs) duplication Cranioectodermal dysplasia 2 [RCV001384852] Chr2:19933420..19933421 [GRCh38]
Chr2:20133181..20133182 [GRCh37]
Chr2:2p24.1
pathogenic
NM_020779.4(WDR35):c.1846-5T>C single nucleotide variant Cranioectodermal dysplasia 2 [RCV001416907] Chr2:19941844 [GRCh38]
Chr2:20141605 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.135G>A (p.Thr45=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001428833] Chr2:19989172 [GRCh38]
Chr2:20188933 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.1008+302C>G single nucleotide variant not provided [RCV001540805] Chr2:19969178 [GRCh38]
Chr2:20168939 [GRCh37]
Chr2:2p24.1
benign
NM_020779.4(WDR35):c.2154G>A (p.Lys718=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001447522] Chr2:19937856 [GRCh38]
Chr2:20137617 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.2994A>G (p.Glu998=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001408815] Chr2:19930523 [GRCh38]
Chr2:20130284 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.378C>T (p.Asp126=) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001406500] Chr2:19978809 [GRCh38]
Chr2:20178570 [GRCh37]
Chr2:2p24.1
likely benign
NM_020779.4(WDR35):c.737-204C>A single nucleotide variant not provided [RCV001536696] Chr2:19973912 [GRCh38]
Chr2:20173673 [GRCh37]
Chr2:2p24.1
benign
NM_020779.4(WDR35):c.1690C>T (p.Arg564Ter) single nucleotide variant Cranioectodermal dysplasia 2 [RCV001389261] Chr2:19945941 [GRCh38]
Chr2:20145702 [GRCh37]
Chr2:2p24.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29250 AgrOrtholog
COSMIC WDR35 COSMIC
Ensembl Genes ENSG00000118965 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000281405 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000314444 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000390105 UniProtKB/TrEMBL
  ENSP00000390802 UniProtKB/TrEMBL
  ENSP00000404409 UniProtKB/TrEMBL
Ensembl Transcript ENST00000281405 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000345530 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000414212 UniProtKB/TrEMBL
  ENST00000445063 UniProtKB/TrEMBL
  ENST00000453014 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot
  2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000118965 GTEx
HGNC ID HGNC:29250 ENTREZGENE
Human Proteome Map WDR35 Human Proteome Map
InterPro Apc4_WD40_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR-like_helical_dom_sf UniProtKB/Swiss-Prot
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WDR35 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57539 UniProtKB/Swiss-Prot
NCBI Gene 57539 ENTREZGENE
OMIM 613602 OMIM
  613610 OMIM
  614091 OMIM
PANTHER PTHR16517:SF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ANAPC4_WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134928987 PharmGKB
PIRSF WD_repeat_p35 UniProtKB/Swiss-Prot
PROSITE WD_REPEATS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt F8WB94_HUMAN UniProtKB/TrEMBL
  H0Y6C0_HUMAN UniProtKB/TrEMBL
  H7BZK8_HUMAN UniProtKB/TrEMBL
  Q9P2L0 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B3KVI5 UniProtKB/Swiss-Prot
  Q4ZG01 UniProtKB/Swiss-Prot
  Q8NE11 UniProtKB/Swiss-Prot