PCNT (pericentrin) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: PCNT (pericentrin) Homo sapiens
Analyze
Symbol: PCNT
Name: pericentrin
RGD ID: 1317411
Description: Predicted to have calmodulin binding activity and molecular adaptor activity. Involved in cilium assembly; mitotic spindle organization; and positive regulation of intracellular protein transport. Localizes to centriolar satellite; centriole; and cytosol. Predicted to colocalize with cis-Golgi network. Implicated in microcephalic osteodysplastic primordial dwarfism type II. Biomarker of Down syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: KEN; kendrin; MOPD2; PCN; PCNT2; PCNTB; PCTN2; pericentrin (kendrin); pericentrin B; pericentrin-2; pericentrin-380; pericentrin-B; SCKL4
Orthologs:
Mus musculus (house mouse) : Pcnt (pericentrin (kendrin))  MGI  Alliance
Rattus norvegicus (Norway rat) : Pcnt (pericentrin)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pcnt (pericentrin)
Pan paniscus (bonobo/pygmy chimpanzee) : PCNT (pericentrin)
Canis lupus familiaris (dog) : PCNT (pericentrin)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pcnt (pericentrin)
Sus scrofa (pig) : PCNT (pericentrin)
Chlorocebus sabaeus (African green monkey) : PCNT (pericentrin)
Heterocephalus glaber (naked mole-rat) : Pcnt (pericentrin)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2146,324,141 - 46,445,769 (+)EnsemblGRCh38hg38GRCh38
GRCh382146,324,122 - 46,445,769 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372147,743,976 - 47,865,682 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,568,483 - 46,690,110 (+)NCBINCBI36hg18NCBI36
Build 342146,568,482 - 46,690,106NCBI
Celera2132,857,810 - 32,978,856 (+)NCBI
Cytogenetic Map21q22.3NCBI
HuRef2133,126,870 - 33,245,591 (+)NCBIHuRef
CHM1_12147,304,775 - 47,426,531 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model



Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality of dental enamel  (IAGP)
Abnormality of epiphysis morphology  (IAGP)
Abnormality of female external genitalia  (IAGP)
Abnormality of the metaphysis  (IAGP)
Absent earlobe  (IAGP)
Anemia  (IAGP)
Aplasia/Hypoplasia of the earlobes  (IAGP)
Aplasia/Hypoplasia of the eyebrow  (IAGP)
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines  (IAGP)
Arterial stenosis  (IAGP)
Atrial septal defect  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autosomal recessive inheritance  (IAGP)
Brachydactyly  (IAGP)
Cachexia  (IAGP)
Cafe-au-lait spot  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Cognitive impairment  (IAGP)
Cone-shaped epiphysis  (IAGP)
Convex nasal ridge  (IAGP)
Coxa vara  (IAGP)
Craniosynostosis  (IAGP)
Delayed skeletal maturation  (IAGP)
Dilatation  (IAGP)
Dilatation of the cerebral artery  (IAGP)
Disproportionate short stature  (IAGP)
Distal symphalangism  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dry skin  (IAGP)
Fine hair  (IAGP)
Flared metaphysis  (IAGP)
Full cheeks  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
High pitched voice  (IAGP)
Hip dysplasia  (IAGP)
Hypermetropia  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of dental enamel  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplastic iliac wing  (IAGP)
Hypoplastic scapulae  (IAGP)
Hypospadias  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Ivory epiphyses  (IAGP)
Joint hyperflexibility  (IAGP)
Large sella turcica  (IAGP)
Laryngomalacia  (IAGP)
Limited elbow extension  (IAGP)
Long clavicles  (IAGP)
Low-set ears  (IAGP)
Microcephaly  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Microtia  (IAGP)
Mild global developmental delay  (IAGP)
Moyamoya phenomenon  (IAGP)
Multiple cafe-au-lait spots  (IAGP)
Narrow chest  (IAGP)
Narrow face  (IAGP)
Narrow palpebral fissure  (IAGP)
Narrow pelvis bone  (IAGP)
Nasal speech  (IAGP)
Patent ductus arteriosus  (IAGP)
Postnatal growth retardation  (IAGP)
Precocious puberty  (IAGP)
Prematurely aged appearance  (IAGP)
Prominent nasal bridge  (IAGP)
Prominent nose  (IAGP)
Proximal femoral epiphysiolysis  (IAGP)
Pseudoepiphyses of the metacarpals  (IAGP)
Radial bowing  (IAGP)
Recurrent respiratory infections  (IAGP)
Reduced number of teeth  (IAGP)
Retrognathia  (IAGP)
Sandal gap  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short 1st metacarpal  (IAGP)
Short distal phalanx of finger  (IAGP)
Short middle phalanx of finger  (IAGP)
Short stature  (IAGP)
Slender long bone  (IAGP)
Sloping forehead  (IAGP)
Sparse scalp hair  (IAGP)
Straight clavicles  (IAGP)
Stroke  (IAGP)
Thin clavicles  (IAGP)
Tibial bowing  (IAGP)
Tracheal stenosis  (IAGP)
Truncal obesity  (IAGP)
Type II diabetes mellitus  (IAGP)
Ulnar bowing  (IAGP)
Underdeveloped nasal alae  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventriculomegaly  (IAGP)
Wide nasal bridge  (IAGP)
References

Additional References at PubMed
PMID:7790358   PMID:8812505   PMID:9455477   PMID:10753751   PMID:10823944   PMID:10830953   PMID:10893222   PMID:11076968   PMID:11171385   PMID:12168954   PMID:12221128   PMID:12477932  
PMID:12812986   PMID:12852856   PMID:12906865   PMID:14702039   PMID:14767062   PMID:15094396   PMID:15337773   PMID:15342556   PMID:16198290   PMID:16251193   PMID:16462731   PMID:16565220  
PMID:16760425   PMID:16980960   PMID:17626165   PMID:17884020   PMID:18029348   PMID:18701509   PMID:18955030   PMID:19191256   PMID:19204726   PMID:19251251   PMID:19448849   PMID:19543530  
PMID:19546241   PMID:19937158   PMID:19946888   PMID:20186884   PMID:20466722   PMID:20467437   PMID:20508983   PMID:20567258   PMID:20599736   PMID:20676397   PMID:21270239   PMID:21399614  
PMID:21423216   PMID:22184200   PMID:22542101   PMID:22586326   PMID:22722493   PMID:22797915   PMID:22990118   PMID:23798705   PMID:24106199   PMID:24421332   PMID:24457600   PMID:24466316  
PMID:24613305   PMID:24711643   PMID:24816561   PMID:25220058   PMID:25281560   PMID:25503564   PMID:26186194   PMID:26231886   PMID:26460568   PMID:26496610   PMID:26631746   PMID:26638075  
PMID:26647647   PMID:27137183   PMID:27880917   PMID:28514442   PMID:28611215   PMID:28700943   PMID:28718761   PMID:29478914   PMID:29507755   PMID:29708497   PMID:30021884   PMID:30054381  
PMID:30100262   PMID:30413633   PMID:30420784   PMID:30581152   PMID:30745168   PMID:30804344   PMID:30814333   PMID:30940648   PMID:30979931   PMID:31076518   PMID:31311520   PMID:32353859  


Genomics

Comparative Map Data
PCNT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2146,324,141 - 46,445,769 (+)EnsemblGRCh38hg38GRCh38
GRCh382146,324,122 - 46,445,769 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372147,743,976 - 47,865,682 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,568,483 - 46,690,110 (+)NCBINCBI36hg18NCBI36
Build 342146,568,482 - 46,690,106NCBI
Celera2132,857,810 - 32,978,856 (+)NCBI
Cytogenetic Map21q22.3NCBI
HuRef2133,126,870 - 33,245,591 (+)NCBIHuRef
CHM1_12147,304,775 - 47,426,531 (+)NCBICHM1_1
Pcnt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391076,187,088 - 76,279,988 (-)NCBI
GRCm381076,351,254 - 76,442,912 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1076,351,263 - 76,442,786 (-)EnsemblGRCm38mm10GRCm38
MGSCv371075,813,999 - 75,905,657 (-)NCBIGRCm37mm9NCBIm37
MGSCv361075,794,980 - 75,886,622 (-)NCBImm8
Celera1077,395,555 - 77,487,301 (-)NCBICelera
Cytogenetic Map10C1NCBI
Pcnt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.02012,943,523 - 13,038,615 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2012,944,786 - 13,038,431 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02015,102,765 - 15,195,221 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42012,608,650 - 12,694,390 (+)NCBIRGSC3.4rn4RGSC3.4
Celera2013,689,491 - 13,776,410 (+)NCBICelera
Cytogenetic Map20p12NCBI
Pcnt
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540742,735,188 - 42,835,465 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540742,735,078 - 42,835,851 (+)NCBIChiLan1.0ChiLan1.0
PCNT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Mhudiblu_PPA_v02132,872,733 - 32,907,868 (+)NCBI
PCNT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl3139,578,039 - 39,676,820 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.13139,576,344 - 39,677,118 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Pcnt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936778149,844 - 248,905 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PCNT
(Sus scrofa - pig)
No map positions available.
PCNT
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl289,936,210 - 90,046,328 (+)Ensembl
ChlSab1.1289,934,888 - 90,046,767 (+)NCBI
Pcnt
(Heterocephalus glaber - naked mole-rat)
No map positions available.

Position Markers
D21S1272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,835,694 - 47,835,960UniSTSGRCh37
Build 362146,660,122 - 46,660,388RGDNCBI36
Celera2132,948,868 - 32,949,134RGD
Cytogenetic Map21q22.3UniSTS
HuRef2133,215,368 - 33,215,634UniSTS
SHGC-107233  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,783,501 - 47,783,732UniSTSGRCh37
Build 362146,607,929 - 46,608,160RGDNCBI36
Celera2132,897,279 - 32,897,510RGD
Cytogenetic Map21q22.3UniSTS
HuRef2133,166,467 - 33,166,698UniSTS
TNG Radiation Hybrid Map2120017.0UniSTS
PCNT2__7047  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,865,198 - 47,865,787UniSTSGRCh37
Build 362146,689,626 - 46,690,215RGDNCBI36
Celera2132,978,372 - 32,978,961RGD
HuRef2133,245,107 - 33,245,696UniSTS
SHGC-87720  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,865,432 - 47,865,573UniSTSGRCh37
Build 362146,689,860 - 46,690,001RGDNCBI36
Celera2132,978,606 - 32,978,747RGD
Cytogenetic Map21q22.3UniSTS
HuRef2133,245,341 - 33,245,482UniSTS
TNG Radiation Hybrid Map2120046.0UniSTS
GeneMap99-GB4 RH Map21250.97UniSTS
NCBI RH Map21407.7UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1364
Count of miRNA genes:663
Interacting mature miRNAs:746
Transcripts:ENST00000359568, ENST00000418394, ENST00000465356, ENST00000466474, ENST00000480896, ENST00000482575, ENST00000483844, ENST00000490468
Prediction methods:Microtar, 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 1184 1319 929 80 989 54 3468 1569 2204 110 1186 1085 39 406 2410 2
Low 1255 1667 797 544 959 411 889 626 1530 308 273 528 136 1 798 378 3 2
Below cutoff 5 3 2 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001315529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB007862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF515282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW452809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP311784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP312870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC345793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U52962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000359568   ⟹   ENSP00000352572
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,324,156 - 46,445,769 (+)Ensembl
RefSeq Acc Id: ENST00000418394   ⟹   ENSP00000404708
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,437,041 - 46,445,437 (+)Ensembl
RefSeq Acc Id: ENST00000465356
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,440,994 - 46,443,172 (+)Ensembl
RefSeq Acc Id: ENST00000466474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,346,138 - 46,353,303 (+)Ensembl
RefSeq Acc Id: ENST00000480896
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,324,888 - 46,445,769 (+)Ensembl
RefSeq Acc Id: ENST00000482575
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,431,259 - 46,432,035 (+)Ensembl
RefSeq Acc Id: ENST00000483844
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,348,239 - 46,353,326 (+)Ensembl
RefSeq Acc Id: ENST00000490468
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,324,141 - 46,349,800 (+)Ensembl
RefSeq Acc Id: NM_001315529   ⟹   NP_001302458
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,324,667 - 46,445,769 (+)NCBI
CHM1_12147,305,545 - 47,426,531 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006031   ⟹   NP_006022
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,324,156 - 46,445,769 (+)NCBI
GRCh372147,743,976 - 47,865,682 (+)NCBI
Build 362146,568,483 - 46,690,110 (+)NCBI Archive
HuRef2133,126,870 - 33,245,591 (+)ENTREZGENE
CHM1_12147,304,775 - 47,426,531 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005261124   ⟹   XP_005261181
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,324,122 - 46,445,769 (+)NCBI
GRCh372147,743,976 - 47,865,682 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529594   ⟹   XP_011527896
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,324,122 - 46,445,769 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028362   ⟹   XP_016883851
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,324,122 - 46,445,769 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028363   ⟹   XP_016883852
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,324,862 - 46,445,769 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452082   ⟹   XP_024307850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,348,106 - 46,445,769 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452083   ⟹   XP_024307851
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,324,161 - 46,445,769 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006022   ⟸   NM_006031
- Peptide Label: isoform 1
- UniProtKB: O95613 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005261181   ⟸   XM_005261124
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011527896   ⟸   XM_011529594
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001302458   ⟸   NM_001315529
- Peptide Label: isoform 2
- UniProtKB: O95613 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016883851   ⟸   XM_017028362
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016883852   ⟸   XM_017028363
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024307851   ⟸   XM_024452083
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_024307850   ⟸   XM_024452082
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000352572   ⟸   ENST00000359568
RefSeq Acc Id: ENSP00000404708   ⟸   ENST00000418394
Protein Domains
PACT_coil_coil

Promoters
RGD ID:13603100
Promoter ID:EPDNEW_H27734
Type:initiation region
Name:PCNT_1
Description:pericentrin
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
GRCh382146,324,187 - 46,324,247EPDNEW
RGD ID:6799334
Promoter ID:HG_KWN:41312
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000337772,   NM_006031,   OTTHUMT00000207282,   OTTHUMT00000207283,   OTTHUMT00000207338,   OTTHUMT00000339713,   UC002ZJG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,566,776 - 46,568,617 (-)MPROMDB
RGD ID:6799521
Promoter ID:HG_KWN:41313
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000207337
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,568,631 - 46,569,637 (+)MPROMDB
RGD ID:6812134
Promoter ID:HG_ACW:51012
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:PCNT.RAPR07,   PCNT.VAAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,660,816 - 46,661,316 (+)MPROMDB
RGD ID:6799522
Promoter ID:HG_KWN:41319
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000207342
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,681,481 - 46,681,981 (+)MPROMDB
RGD ID:6799523
Promoter ID:HG_KWN:41320
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000207343
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,684,731 - 46,685,632 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006031.6(PCNT):c.467_583dup (p.His156_Gln194dup) duplication not provided [RCV000523502] Chr21:46334583..46334584 [GRCh38]
Chr21:47754497..47754498 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.3840G>C (p.Gln1280His) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000023498] Chr21:46389431 [GRCh38]
Chr21:47809346 [GRCh37]
Chr21:21q22.3
pathogenic
PCNT, 3-BP DEL, 9460AAG deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV000023499] Chr21:21q22.3 pathogenic
NM_006031.6(PCNT):c.3460G>T (p.Glu1154Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000023500] Chr21:46385979 [GRCh38]
Chr21:47805894 [GRCh37]
Chr21:21q22.3
pathogenic
NM_006031.6(PCNT):c.1528dup (p.Thr510fs) duplication Microcephalic osteodysplastic primordial dwarfism type II [RCV000033163] Chr21:46353169..46353170 [GRCh38]
Chr21:47773083..47773084 [GRCh37]
Chr21:21q22.3
pathogenic
NM_006031.6(PCNT):c.658G>T (p.Glu220Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000004968] Chr21:46346146 [GRCh38]
Chr21:47766060 [GRCh37]
Chr21:21q22.3
pathogenic|likely pathogenic
NM_006031.6(PCNT):c.1887del (p.Ala630fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV000004969] Chr21:46355577 [GRCh38]
Chr21:47775492 [GRCh37]
Chr21:21q22.3
pathogenic
NM_006031.6(PCNT):c.3568dup (p.Cys1190fs) duplication Microcephalic osteodysplastic primordial dwarfism type II [RCV000004970] Chr21:46388844..46388845 [GRCh38]
Chr21:47808759..47808760 [GRCh37]
Chr21:21q22.3
pathogenic
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000004971] Chr21:46411840 [GRCh38]
Chr21:47831754 [GRCh37]
Chr21:21q22.3
pathogenic
NM_006031.6(PCNT):c.844dup (p.Glu282fs) duplication Microcephalic osteodysplastic primordial dwarfism type II [RCV000004972] Chr21:46346863..46346864 [GRCh38]
Chr21:47766777..47766778 [GRCh37]
Chr21:21q22.3
pathogenic
NM_006031.6(PCNT):c.3109G>T (p.Glu1037Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000004973]|not provided [RCV000351291] Chr21:46367083 [GRCh38]
Chr21:47786998 [GRCh37]
Chr21:21q22.3
pathogenic
PCNT, 486-BP DEL, NT84 deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV000004974] Chr21:21q22.3 pathogenic
NM_006031.6(PCNT):c.8752C>T (p.Arg2918Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000004975] Chr21:46435904 [GRCh38]
Chr21:47855817 [GRCh37]
Chr21:21q22.3
pathogenic
NM_006031.6(PCNT):c.2947C>T (p.Arg983Cys) single nucleotide variant not provided [RCV000728612] Chr21:46366921 [GRCh38]
Chr21:47786836 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.2260G>T (p.Val754Phe) single nucleotide variant not provided [RCV000520120] Chr21:46363585 [GRCh38]
Chr21:47783500 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.1995G>T (p.Glu665Asp) single nucleotide variant not provided [RCV000519239] Chr21:46357032 [GRCh38]
Chr21:47776947 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.1790T>C (p.Leu597Ser) single nucleotide variant not provided [RCV000519939] Chr21:46355480 [GRCh38]
Chr21:47775395 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh38/hg38 21q22.3(chr21:46214279-46670405)x1 copy number loss See cases [RCV000050919] Chr21:46214279..46670405 [GRCh38]
Chr21:47634193..48090317 [GRCh37]
Chr21:46458621..46914745 [NCBI36]
Chr21:21q22.3
uncertain significance
GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 copy number loss See cases [RCV000050746] Chr21:42232926..46670405 [GRCh38]
Chr21:43653036..48090317 [GRCh37]
Chr21:42526105..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 copy number loss See cases [RCV000051022] Chr21:41285201..46670405 [GRCh38]
Chr21:42657128..48090317 [GRCh37]
Chr21:41578998..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 copy number loss See cases [RCV000052839] Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45085281-46670546)x1 copy number loss See cases [RCV000052841] Chr21:45085281..46670546 [GRCh38]
Chr21:46505196..48090458 [GRCh37]
Chr21:45329624..46914886 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45110477-46648012)x1 copy number loss See cases [RCV000052842] Chr21:45110477..46648012 [GRCh38]
Chr21:46530392..48067924 [GRCh37]
Chr21:45354820..46892352 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45138321-46670405)x1 copy number loss See cases [RCV000052864] Chr21:45138321..46670405 [GRCh38]
Chr21:46558236..48090317 [GRCh37]
Chr21:45382664..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45801860-46670405)x1 copy number loss See cases [RCV000052866] Chr21:45801860..46670405 [GRCh38]
Chr21:47221774..48090317 [GRCh37]
Chr21:46046202..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45471378-46670405)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053073]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053073]|See cases [RCV000053073] Chr21:45471378..46670405 [GRCh38]
Chr21:46891292..48090317 [GRCh37]
Chr21:45715720..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_006031.5(PCNT):c.3531C>T (p.Val1177=) single nucleotide variant Malignant melanoma [RCV000072878] Chr21:46388808 [GRCh38]
Chr21:47808723 [GRCh37]
Chr21:46633151 [NCBI36]
Chr21:21q22.3
not provided
NM_006031.5(PCNT):c.9092C>T (p.Ser3031Phe) single nucleotide variant Malignant melanoma [RCV000072879] Chr21:46437074 [GRCh38]
Chr21:47856987 [GRCh37]
Chr21:46681415 [NCBI36]
Chr21:21q22.3
not provided
NM_006031.6(PCNT):c.196G>T (p.Gly66Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000115045]|not provided [RCV000171352] Chr21:46326518 [GRCh38]
Chr21:47746432 [GRCh37]
Chr21:21q22.3
pathogenic|likely pathogenic
NM_006031.6(PCNT):c.2167C>G (p.Leu723Val) single nucleotide variant not provided [RCV000087215] Chr21:46363492 [GRCh38]
Chr21:47783407 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.5522A>G (p.Asn1841Ser) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000287468]|not specified [RCV000081353] Chr21:46411595 [GRCh38]
Chr21:47831509 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.5631C>T (p.Ile1877=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000390122]|not specified [RCV000081354] Chr21:46411704 [GRCh38]
Chr21:47831618 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.5634C>T (p.Asp1878=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000299490]|not specified [RCV000081355] Chr21:46411707 [GRCh38]
Chr21:47831621 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001142675]|not provided [RCV000437760]|not specified [RCV000081356] Chr21:46411844 [GRCh38]
Chr21:47831758 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000329106]|not specified [RCV000081357] Chr21:46411931 [GRCh38]
Chr21:47831845 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.720+17T>C single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000603864]|not specified [RCV000081358] Chr21:46346225 [GRCh38]
Chr21:47766139 [GRCh37]
Chr21:21q22.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006031.6(PCNT):c.8752-5A>C single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000613080]|not provided [RCV000971344]|not specified [RCV000081359] Chr21:46435899 [GRCh38]
Chr21:47855812 [GRCh37]
Chr21:21q22.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006031.6(PCNT):c.8811A>G (p.Thr2937=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000397881]|not specified [RCV000081360] Chr21:46435963 [GRCh38]
Chr21:47855876 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.8988C>T (p.Ala2996=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000314687]|not specified [RCV000081361] Chr21:46436140 [GRCh38]
Chr21:47856053 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.7485C>T (p.Ile2495=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000289221]|not specified [RCV000147201] Chr21:46427786 [GRCh38]
Chr21:47847700 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.7536G>A (p.Pro2512=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000344379]|not specified [RCV000147203] Chr21:46428436 [GRCh38]
Chr21:47848350 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.7645G>A (p.Ala2549Thr) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000393220]|not specified [RCV000147204] Chr21:46428545 [GRCh38]
Chr21:47848459 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001001726]|not specified [RCV000147206] Chr21:46428552 [GRCh38]
Chr21:47848466 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.7800G>A (p.Ala2600=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001000347]|not specified [RCV000147210] Chr21:46430119 [GRCh38]
Chr21:47850033 [GRCh37]
Chr21:21q22.3
benign|uncertain significance
NM_006031.6(PCNT):c.7874G>A (p.Arg2625Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000296947]|not specified [RCV000147213] Chr21:46430193 [GRCh38]
Chr21:47850107 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.7913+9G>C single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000261552]|not specified [RCV000147216] Chr21:46430241 [GRCh38]
Chr21:47850155 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.8224G>C (p.Glu2742Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001141252]|not provided [RCV000972984]|not specified [RCV000147220] Chr21:46431688 [GRCh38]
Chr21:47851602 [GRCh37]
Chr21:21q22.3
benign|likely benign|uncertain significance
NM_006031.6(PCNT):c.8258G>A (p.Arg2753His) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000288320]|not specified [RCV000147221] Chr21:46431722 [GRCh38]
Chr21:47851636 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000625075]|not provided [RCV000430424]|not specified [RCV000147225] Chr21:46432135 [GRCh38]
Chr21:47852049 [GRCh37]
Chr21:21q22.3
benign|likely benign|uncertain significance
NM_006031.6(PCNT):c.498A>G (p.Pro166=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000268541]|not specified [RCV000147140] Chr21:46334627 [GRCh38]
Chr21:47754541 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.520A>G (p.Ile174Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000359776]|not specified [RCV000147144] Chr21:46334649 [GRCh38]
Chr21:47754563 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.9271A>G (p.Ser3091Gly) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000267961]|not specified [RCV000147241] Chr21:46438335 [GRCh38]
Chr21:47858248 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.711T>G (p.His237Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000265086]|not specified [RCV000147190] Chr21:46346199 [GRCh38]
Chr21:47766113 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.2415C>G (p.Ala805=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000385722]|not specified [RCV000147094] Chr21:46363740 [GRCh38]
Chr21:47783655 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.-16G>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000401206]|not specified [RCV000127364] Chr21:46324213 [GRCh38]
Chr21:47744127 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.54+6C>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000311658]|not specified [RCV000147147] Chr21:46324288 [GRCh38]
Chr21:47744202 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.5322G>A (p.Glu1774=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000293755]|not specified [RCV000147145] Chr21:46411395 [GRCh38]
Chr21:47831309 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.5535G>A (p.Arg1845=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000345301]|not specified [RCV000147150] Chr21:46411608 [GRCh38]
Chr21:47831522 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.6290T>C (p.Leu2097Pro) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000397121]|not specified [RCV000147162] Chr21:46416208 [GRCh38]
Chr21:47836122 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.6374A>C (p.His2125Pro) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000337798]|not specified [RCV000147163] Chr21:46416292 [GRCh38]
Chr21:47836206 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000612054]|not specified [RCV000147164] Chr21:46416302 [GRCh38]
Chr21:47836216 [GRCh37]
Chr21:21q22.3
benign|conflicting interpretations of pathogenicity
NM_006031.6(PCNT):c.6563T>G (p.Met2188Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000308329]|not specified [RCV000147167] Chr21:46416481 [GRCh38]
Chr21:47836395 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.6594T>C (p.Gly2198=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000264594]|not specified [RCV000147171] Chr21:46416512 [GRCh38]
Chr21:47836426 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.6715T>C (p.Trp2239Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000335110]|not specified [RCV000147175] Chr21:46416633 [GRCh38]
Chr21:47836547 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.6739C>T (p.His2247Tyr) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001000385]|not specified [RCV000147177] Chr21:46416657 [GRCh38]
Chr21:47836571 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.6927A>G (p.Lys2309=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000303217]|not specified [RCV000147183] Chr21:46418209 [GRCh38]
Chr21:47838123 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.7074T>C (p.Pro2358=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000354400]|not specified [RCV000147188] Chr21:46422019 [GRCh38]
Chr21:47841933 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.7082A>G (p.Gln2361Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000259539]|not specified [RCV000147189] Chr21:46422027 [GRCh38]
Chr21:47841941 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.7130C>T (p.Pro2377Leu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000374130]|not specified [RCV000147191] Chr21:46422075 [GRCh38]
Chr21:47841989 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.2374C>T (p.Arg792Ter) single nucleotide variant not provided [RCV000171353] Chr21:46363699 [GRCh38]
Chr21:47783614 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q22.3(chr21:47486134-47796810)x3 copy number gain See cases [RCV000184073] Chr21:47486134..47796810 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.1040A>G (p.Lys347Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147087] Chr21:46349019 [GRCh38]
Chr21:47768933 [GRCh37]
Chr21:21q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.1207+34A>T single nucleotide variant not specified [RCV000147088] Chr21:46349220 [GRCh38]
Chr21:47769134 [GRCh37]
Chr21:21q22.3
likely benign
NM_006031.6(PCNT):c.1468C>T (p.Gln490Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147089] Chr21:46353115 [GRCh38]
Chr21:47773029 [GRCh37]
Chr21:21q22.3
pathogenic
NM_006031.6(PCNT):c.1542C>A (p.Ser514=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000616137]|not specified [RCV000147090] Chr21:46353189 [GRCh38]
Chr21:47773103 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.1616C>T (p.Thr539Ile) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000303478]|not specified [RCV000147091] Chr21:46353263 [GRCh38]
Chr21:47773177 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.1937-44G>A single nucleotide variant not specified [RCV000147092] Chr21:46356930 [GRCh38]
Chr21:47776845 [GRCh37]
Chr21:21q22.3
likely benign
NM_006031.6(PCNT):c.2111G>A (p.Gly704Glu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000605799]|not specified [RCV000147093] Chr21:46357148 [GRCh38]
Chr21:47777063 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.244G>A (p.Ala82Thr) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147095] Chr21:46326566 [GRCh38]
Chr21:47746480 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.2470C>T (p.Leu824=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147096] Chr21:46363795 [GRCh38]
Chr21:47783710 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.2556T>C (p.Ala852=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000608662]|not specified [RCV000147097] Chr21:46363881 [GRCh38]
Chr21:47783796 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.2610-50T>A single nucleotide variant not provided [RCV000829601]|not specified [RCV000147098] Chr21:46366534 [GRCh38]
Chr21:47786449 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.2610-5C>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000615447]|not specified [RCV000147099] Chr21:46366579 [GRCh38]
Chr21:47786494 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.2635A>G (p.Thr879Ala) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000378806]|not specified [RCV000147100] Chr21:46366609 [GRCh38]
Chr21:47786524 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.2710C>T (p.Leu904Phe) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147101] Chr21:46366684 [GRCh38]
Chr21:47786599 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.2714A>G (p.Gln905Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147102]|not specified [RCV000615390] Chr21:46366688 [GRCh38]
Chr21:47786603 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.6(PCNT):c.2742A>G (p.Ser914=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147103] Chr21:46366716 [GRCh38]
Chr21:47786631 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.2928C>G (p.Leu976=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000605112]|not specified [RCV000147104] Chr21:46366902 [GRCh38]
Chr21:47786817 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.2984_2994del (p.Ala995fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV000147105]|not provided [RCV000296415] Chr21:46366955..46366965 [GRCh38]
Chr21:47786870..47786880 [GRCh37]
Chr21:21q22.3
pathogenic
NM_006031.6(PCNT):c.3113T>C (p.Val1038Ala) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000612303]|not specified [RCV000147106] Chr21:46367087 [GRCh38]
Chr21:47787002 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.3220C>T (p.Arg1074Trp) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147107] Chr21:46381748 [GRCh38]
Chr21:47801663 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.3233C>A (p.Ala1078Glu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147108] Chr21:46381761 [GRCh38]
Chr21:47801676 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.3282G>T (p.Gln1094His) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147109] Chr21:46381810 [GRCh38]
Chr21:47801725 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.3339T>C (p.Ser1113=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000599708]|not specified [RCV000147110] Chr21:46385858 [GRCh38]
Chr21:47805773 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.336T>C (p.His112=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147111] Chr21:46334465 [GRCh38]
Chr21:47754379 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.339T>A (p.Pro113=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147112] Chr21:46334468 [GRCh38]
Chr21:47754382 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.3465-40C>T single nucleotide variant not specified [RCV000147113] Chr21:46388702 [GRCh38]
Chr21:47808617 [GRCh37]
Chr21:21q22.3
likely benign
NM_006031.6(PCNT):c.3487C>T (p.Arg1163Cys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000365165]|not specified [RCV000147114] Chr21:46388764 [GRCh38]
Chr21:47808679 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.3580G>A (p.Ala1194Thr) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000272952]|not specified [RCV000147115] Chr21:46388857 [GRCh38]
Chr21:47808772 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.3581C>T (p.Ala1194Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147116] Chr21:46388858 [GRCh38]
Chr21:47808773 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.3615G>A (p.Ala1205=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000364236]|not provided [RCV000972981]|not specified [RCV000147117] Chr21:46389206 [GRCh38]
Chr21:47809121 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.3748C>T (p.Arg1250Trp) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000284988]|not provided [RCV000891555]|not specified [RCV000382753] Chr21:46389339 [GRCh38]
Chr21:47809254 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.6(PCNT):c.3992A>G (p.His1331Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147119] Chr21:46390821 [GRCh38]
Chr21:47810736 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.4139C>T (p.Ala1380Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147120]|not specified [RCV000614027] Chr21:46391299 [GRCh38]
Chr21:47811214 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.6(PCNT):c.4175G>A (p.Arg1392Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147121] Chr21:46391335 [GRCh38]
Chr21:47811250 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.4197C>T (p.Asp1399=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000279190]|not specified [RCV000147122] Chr21:46391357 [GRCh38]
Chr21:47811272 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.427C>T (p.Arg143Cys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147123] Chr21:46334556 [GRCh38]
Chr21:47754470 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001002080]|not provided [RCV000425035]|not specified [RCV000147124] Chr21:46397333 [GRCh38]
Chr21:47817247 [GRCh37]
Chr21:21q22.3
benign|likely benign|uncertain significance
NM_006031.6(PCNT):c.428G>A (p.Arg143His) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001139526]|not specified [RCV000147125] Chr21:46334557 [GRCh38]
Chr21:47754471 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000605004]|not provided [RCV000972613]|not specified [RCV000147126] Chr21:46397393 [GRCh38]
Chr21:47817307 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001001913]|not provided [RCV000879337]|not specified [RCV000328533] Chr21:46397402 [GRCh38]
Chr21:47817316 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.4431G>A (p.Gln1477=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147128] Chr21:46397479 [GRCh38]
Chr21:47817393 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.445A>T (p.Ser149Cys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147129]|not provided [RCV000522969] Chr21:46334574 [GRCh38]
Chr21:47754488 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001139939]|not provided [RCV000882071]|not specified [RCV000147130] Chr21:46398242 [GRCh38]
Chr21:47818156 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.4572G>A (p.Pro1524=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000400436]|not provided [RCV000968415]|not specified [RCV000147131] Chr21:46398243 [GRCh38]
Chr21:47818157 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_006031.6(PCNT):c.4611A>G (p.Arg1537=) single nucleotide variant not specified [RCV000147132] Chr21:46399616 [GRCh38]
Chr21:47819530 [GRCh37]
Chr21:21q22.3
likely benign
NM_006031.6(PCNT):c.467A>G (p.His156Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000363026]|not provided [RCV000890552]|not specified [RCV000147133] Chr21:46334596 [GRCh38]
Chr21:47754510 [GRCh37]
Chr21:21q22.3
benign|likely benign|uncertain significance
NM_006031.6(PCNT):c.467_505del (p.His156_Gln168del) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV000614089]|not provided [RCV000837243]|not specified [RCV000147134] Chr21:46334558..46334596 [GRCh38]
Chr21:47754472..47754510 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.4769A>G (p.Asn1590Ser) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147135] Chr21:46399774 [GRCh38]
Chr21:47819688 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.4844C>T (p.Thr1615Met) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147136]|not provided [RCV000904391]|not specified [RCV000431570] Chr21:46401603 [GRCh38]
Chr21:47821517 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.6(PCNT):c.4910C>T (p.Pro1637Leu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000359448]|not provided [RCV000949860]|not specified [RCV000147137] Chr21:46401669 [GRCh38]
Chr21:47821583 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.4915A>G (p.Ile1639Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000262312]|not specified [RCV000147138] Chr21:46401674 [GRCh38]
Chr21:47821588 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.4962+10G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000372923]|not provided [RCV000972982]|not specified [RCV000147139] Chr21:46401731 [GRCh38]
Chr21:47821645 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_006031.6(PCNT):c.5020G>T (p.Glu1674Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147141] Chr21:46402388 [GRCh38]
Chr21:47822302 [GRCh37]
Chr21:21q22.3
pathogenic
NM_006031.6(PCNT):c.506G>A (p.Arg169His) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001139529]|not specified [RCV000147142] Chr21:46334635 [GRCh38]
Chr21:47754549 [GRCh37]
Chr21:21q22.3
benign|uncertain significance
NM_006031.6(PCNT):c.5199G>A (p.Lys1733=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000333502]|not specified [RCV000406218] Chr21:46411272 [GRCh38]
Chr21:47831186 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.6(PCNT):c.5347C>T (p.Pro1783Ser) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147146] Chr21:46411420 [GRCh38]
Chr21:47831334 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.5431C>T (p.Arg1811Cys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147148] Chr21:46411504 [GRCh38]
Chr21:47831418 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.55-5C>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147149] Chr21:46326372 [GRCh38]
Chr21:47746286 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.5578G>T (p.Glu1860Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147151] Chr21:46411651 [GRCh38]
Chr21:47831565 [GRCh37]
Chr21:21q22.3
pathogenic
NM_006031.6(PCNT):c.5677G>T (p.Ala1893Ser) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147152] Chr21:46411750 [GRCh38]
Chr21:47831664 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.5742G>A (p.Ala1914=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000277484]|not provided [RCV000965496]|not specified [RCV000147154] Chr21:46411815 [GRCh38]
Chr21:47831729 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.5774A>C (p.Gln1925Pro) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147155] Chr21:46411847 [GRCh38]
Chr21:47831761 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.5879G>A (p.Arg1960Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001001876]|not provided [RCV000972983]|not specified [RCV000147156] Chr21:46411952 [GRCh38]
Chr21:47831866 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.5994+38T>C single nucleotide variant not specified [RCV000147157] Chr21:46412105 [GRCh38]
Chr21:47832019 [GRCh37]
Chr21:21q22.3
likely benign
NM_006031.6(PCNT):c.5994+48T>G single nucleotide variant not specified [RCV000147158] Chr21:46412115 [GRCh38]
Chr21:47832029 [GRCh37]
Chr21:21q22.3
likely benign
NM_006031.6(PCNT):c.6150+11G>C single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000341105]|not specified [RCV000147159] Chr21:46413003 [GRCh38]
Chr21:47832917 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.6150+30C>A single nucleotide variant not specified [RCV000147160] Chr21:46413022 [GRCh38]
Chr21:47832936 [GRCh37]
Chr21:21q22.3
likely benign
NM_006031.6(PCNT):c.6150+49C>T single nucleotide variant not specified [RCV000147161] Chr21:46413041 [GRCh38]
Chr21:47832955 [GRCh37]
Chr21:21q22.3
likely benign
NM_006031.6(PCNT):c.640-38T>G single nucleotide variant not specified [RCV000147165] Chr21:46346090 [GRCh38]
Chr21:47766004 [GRCh37]
Chr21:21q22.3
likely benign
NM_006031.6(PCNT):c.640-8T>G single nucleotide variant not specified [RCV000147166] Chr21:46346120 [GRCh38]
Chr21:47766034 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.6571T>C (p.Ser2191Pro) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000362982]|not specified [RCV000147168] Chr21:46416489 [GRCh38]
Chr21:47836403 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.6572C>A (p.Ser2191Tyr) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147169] Chr21:46416490 [GRCh38]
Chr21:47836404 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.6579G>A (p.Pro2193=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000273149]|not provided [RCV000894621]|not specified [RCV000147170] Chr21:46416497 [GRCh38]
Chr21:47836411 [GRCh37]
Chr21:21q22.3
benign|likely benign|uncertain significance
NM_006031.6(PCNT):c.6616A>G (p.Thr2206Ala) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001001708]|not provided [RCV000894497]|not specified [RCV000147172] Chr21:46416534 [GRCh38]
Chr21:47836448 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.6633C>T (p.Pro2211=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147173] Chr21:46416551 [GRCh38]
Chr21:47836465 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000378936]|not provided [RCV000513840]|not specified [RCV000177472] Chr21:46416552 [GRCh38]
Chr21:47836466 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.6722G>A (p.Ser2241Asn) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147176] Chr21:46416640 [GRCh38]
Chr21:47836554 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.6761G>A (p.Cys2254Tyr) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000349764]|not specified [RCV000147178] Chr21:46416679 [GRCh38]
Chr21:47836593 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.6(PCNT):c.6821C>T (p.Pro2274Leu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000601800]|not specified [RCV000147179] Chr21:46416739 [GRCh38]
Chr21:47836653 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.6918T>C (p.Ala2306=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000365607]|not specified [RCV000147180] Chr21:46416836 [GRCh38]
Chr21:47836750 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.6922-4A>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147181] Chr21:46418200 [GRCh38]
Chr21:47838114 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA insertion Microcephalic Osteodysplastic Primordial Dwarfism [RCV000400999]|Microcephalic osteodysplastic primordial dwarfism type II [RCV000606692]|not provided [RCV000948109]|not specified [RCV000147182] Chr21:46418198..46418199 [GRCh38]
Chr21:47838112..47838113 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.6957T>G (p.Phe2319Leu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001142890]|not provided [RCV000886270]|not specified [RCV000147184] Chr21:46418239 [GRCh38]
Chr21:47838153 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.6986C>G (p.Pro2329Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000268048]|not provided [RCV000963400]|not specified [RCV000147185] Chr21:46418268 [GRCh38]
Chr21:47838182 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.7011T>C (p.Asp2337=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147186] Chr21:46418293 [GRCh38]
Chr21:47838207 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.7040T>C (p.Phe2347Ser) single nucleotide variant not provided [RCV000968789]|not specified [RCV000147187] Chr21:46421985 [GRCh38]
Chr21:47841899 [GRCh37]
Chr21:21q22.3
benign|likely benign|uncertain significance
NM_006031.6(PCNT):c.7159G>A (p.Val2387Met) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138142]|not provided [RCV000440995]|not specified [RCV000147192] Chr21:46422104 [GRCh38]
Chr21:47842018 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.7180-41G>T single nucleotide variant not specified [RCV000147193] Chr21:46425790 [GRCh38]
Chr21:47845704 [GRCh37]
Chr21:21q22.3
likely benign
NM_006031.6(PCNT):c.720+32C>T single nucleotide variant not specified [RCV000147194] Chr21:46346240 [GRCh38]
Chr21:47766154 [GRCh37]
Chr21:21q22.3
likely benign
NM_006031.6(PCNT):c.721-7G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000608754]|not specified [RCV000147195] Chr21:46346736 [GRCh38]
Chr21:47766650 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.7297T>C (p.Ser2433Pro) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147196] Chr21:46425948 [GRCh38]
Chr21:47845862 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.7321-10C>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147197] Chr21:46427612 [GRCh38]
Chr21:47847526 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.7353G>A (p.Gly2451=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138576]|not provided [RCV000949861]|not specified [RCV000147198] Chr21:46427654 [GRCh38]
Chr21:47847568 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.7404G>C (p.Gln2468His) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000388228]|not provided [RCV000434179]|not specified [RCV000147199] Chr21:46427705 [GRCh38]
Chr21:47847619 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.7465G>A (p.Glu2489Lys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147200] Chr21:46427766 [GRCh38]
Chr21:47847680 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.7494+48G>A single nucleotide variant not specified [RCV000147202] Chr21:46427843 [GRCh38]
Chr21:47847757 [GRCh37]
Chr21:21q22.3
likely benign
NM_006031.6(PCNT):c.7648G>A (p.Glu2550Lys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147205] Chr21:46428548 [GRCh38]
Chr21:47848462 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.7655G>A (p.Arg2552His) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147207]|not provided [RCV000593921] Chr21:46428555 [GRCh38]
Chr21:47848469 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.7656C>T (p.Arg2552=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000340883]|not provided [RCV000963401]|not specified [RCV000147208] Chr21:46428556 [GRCh38]
Chr21:47848470 [GRCh37]
Chr21:21q22.3
benign|uncertain significance
NM_006031.6(PCNT):c.7796del (p.Leu2599fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV000147209] Chr21:46430115 [GRCh38]
Chr21:47850029 [GRCh37]
Chr21:21q22.3
pathogenic
NM_006031.6(PCNT):c.7803G>A (p.Ala2601=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001142996]|not provided [RCV000885523]|not specified [RCV000147211] Chr21:46430122 [GRCh38]
Chr21:47850036 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.7867C>T (p.Leu2623=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000399369]|not provided [RCV000948110]|not specified [RCV000147212] Chr21:46430186 [GRCh38]
Chr21:47850100 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.7913+32C>T single nucleotide variant not specified [RCV000147214] Chr21:46430264 [GRCh38]
Chr21:47850178 [GRCh37]
Chr21:21q22.3
likely benign
NM_006031.6(PCNT):c.7913+40C>T single nucleotide variant not specified [RCV000147215] Chr21:46430272 [GRCh38]
Chr21:47850186 [GRCh37]
Chr21:21q22.3
likely benign
NM_006031.6(PCNT):c.7914-16C>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000613595]|not specified [RCV000147217] Chr21:46430491 [GRCh38]
Chr21:47850405 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_006031.6(PCNT):c.7914-4G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000330789]|not provided [RCV000949862]|not specified [RCV000147218] Chr21:46430503 [GRCh38]
Chr21:47850417 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.7977G>C (p.Gln2659His) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000601027]|not specified [RCV000147219] Chr21:46430570 [GRCh38]
Chr21:47850484 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.8375A>G (p.Gln2792Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000608247]|not specified [RCV000147222] Chr21:46431839 [GRCh38]
Chr21:47851753 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.8398C>T (p.Arg2800Trp) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147223]|not provided [RCV000520695] Chr21:46431862 [GRCh38]
Chr21:47851776 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.8418G>A (p.Ala2806=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000339621]|not specified [RCV000147224] Chr21:46431882 [GRCh38]
Chr21:47851796 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.8672C>T (p.Ala2891Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147226] Chr21:46432136 [GRCh38]
Chr21:47852050 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.8707G>A (p.Ala2903Thr) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000336085]|not specified [RCV000147227] Chr21:46432171 [GRCh38]
Chr21:47852085 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.8707G>C (p.Ala2903Pro) single nucleotide variant not specified [RCV000147228] Chr21:46432171 [GRCh38]
Chr21:47852085 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.8868dup (p.Ala2957fs) duplication Microcephalic osteodysplastic primordial dwarfism type II [RCV000147229] Chr21:46436019..46436020 [GRCh38]
Chr21:47855932..47855933 [GRCh37]
Chr21:21q22.3
pathogenic
NM_006031.6(PCNT):c.8873G>A (p.Arg2958His) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147230] Chr21:46436025 [GRCh38]
Chr21:47855938 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=) single nucleotide variant not provided [RCV000726362]|not specified [RCV000147231] Chr21:46436041 [GRCh38]
Chr21:47855954 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.8895G>A (p.Ala2965=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138356]|not specified [RCV000147232] Chr21:46436047 [GRCh38]
Chr21:47855960 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_006031.6(PCNT):c.8917C>T (p.Arg2973Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147233] Chr21:46436069 [GRCh38]
Chr21:47855982 [GRCh37]
Chr21:21q22.3
pathogenic
NM_006031.6(PCNT):c.8924T>C (p.Leu2975Pro) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000337474]|not provided [RCV000963402]|not specified [RCV000147234] Chr21:46436076 [GRCh38]
Chr21:47855989 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.8947C>G (p.Leu2983Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147235] Chr21:46436099 [GRCh38]
Chr21:47856012 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.8959C>T (p.Arg2987Trp) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147236] Chr21:46436111 [GRCh38]
Chr21:47856024 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.8996+45C>A single nucleotide variant not provided [RCV000826593]|not specified [RCV000147237] Chr21:46436193 [GRCh38]
Chr21:47856106 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.9014C>T (p.Thr3005Met) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001001877]|not provided [RCV000972985]|not specified [RCV000147238] Chr21:46436996 [GRCh38]
Chr21:47856909 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.9015G>A (p.Thr3005=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000306373]|not provided [RCV000972986]|not specified [RCV000147239] Chr21:46436997 [GRCh38]
Chr21:47856910 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.9174G>A (p.Ala3058=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147240]|not specified [RCV001172457] Chr21:46438238 [GRCh38]
Chr21:47858151 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.9273+22T>C single nucleotide variant not provided [RCV000829602]|not specified [RCV000147242] Chr21:46438359 [GRCh38]
Chr21:47858272 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.9274-3C>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001000585]|not provided [RCV000954194]|not specified [RCV000147243] Chr21:46440080 [GRCh38]
Chr21:47859993 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.931G>A (p.Ala311Thr) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147244] Chr21:46346953 [GRCh38]
Chr21:47766867 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.9394-4T>C single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000338053]|not specified [RCV000147245] Chr21:46440851 [GRCh38]
Chr21:47860764 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.9584G>A (p.Arg3195Lys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147246] Chr21:46441045 [GRCh38]
Chr21:47860958 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.9623+8C>T single nucleotide variant not specified [RCV000147247] Chr21:46441092 [GRCh38]
Chr21:47861005 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.6(PCNT):c.9698C>G (p.Pro3233Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147248] Chr21:46442571 [GRCh38]
Chr21:47862484 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.9719C>T (p.Pro3240Leu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147249] Chr21:46443828 [GRCh38]
Chr21:47863741 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.9735A>C (p.Arg3245Ser) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000603118]|not specified [RCV000147250] Chr21:46443844 [GRCh38]
Chr21:47863757 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.9740G>A (p.Arg3247Lys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147251] Chr21:46443849 [GRCh38]
Chr21:47863762 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.9820T>G (p.Ser3274Ala) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147252] Chr21:46443929 [GRCh38]
Chr21:47863842 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.9968-3C>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147253] Chr21:46445281 [GRCh38]
Chr21:47865194 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.5727_5736del (p.Leu1910fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV000147153] Chr21:46411794..46411803 [GRCh38]
Chr21:47831708..47831717 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1 copy number loss See cases [RCV000133675] Chr21:43071168..46670405 [GRCh38]
Chr21:44491278..48090317 [GRCh37]
Chr21:43364347..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 copy number loss See cases [RCV000137341] Chr21:41733640..46671060 [GRCh38]
Chr21:43153800..48090972 [GRCh37]
Chr21:42026869..46915400 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45877354-46543273)x3 copy number gain See cases [RCV000137820] Chr21:45877354..46543273 [GRCh38]
Chr21:47297268..47963186 [GRCh37]
Chr21:46121696..46787614 [NCBI36]
Chr21:21q22.3
likely benign
NM_006031.6(PCNT):c.3549C>T (p.Ile1183=) single nucleotide variant not provided [RCV000175319] Chr21:46388826 [GRCh38]
Chr21:47808741 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting data from submitters
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 copy number loss See cases [RCV000139158] Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:46416432-46568690)x3 copy number gain See cases [RCV000139701] Chr21:46416432..46568690 [GRCh38]
Chr21:47836346..47988603 [GRCh37]
Chr21:46660774..46813031 [NCBI36]
Chr21:21q22.3
likely benign
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3
uncertain significance
GRCh38/hg38 21q22.3(chr21:45903036-46677460)x1 copy number loss See cases [RCV000141901] Chr21:45903036..46677460 [GRCh38]
Chr21:47322950..48097372 [GRCh37]
Chr21:46147378..46921800 [NCBI36]
Chr21:21q22.3
uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 copy number loss See cases [RCV000142311] Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1 copy number loss See cases [RCV000142600] Chr21:42913213..46670405 [GRCh38]
Chr21:44333323..48090317 [GRCh37]
Chr21:43206392..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1 copy number loss See cases [RCV000143335] Chr21:42129699..46671060 [GRCh38]
Chr21:43549809..48090972 [GRCh37]
Chr21:42422878..46915400 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000284959]|not provided [RCV000723778]|not specified [RCV000153657] Chr21:46431865 [GRCh38]
Chr21:47851779 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.4109G>A (p.Arg1370Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000765508]|not provided [RCV000176213] Chr21:46391269 [GRCh38]
Chr21:47811184 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.3885T>C (p.Phe1295=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140603]|not provided [RCV000176083] Chr21:46390714 [GRCh38]
Chr21:47810629 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.442_519del (p.Val148_Thr173del) deletion not specified [RCV000192426] Chr21:46334536..46334613 [GRCh38]
Chr21:47754450..47754527 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000375990]|not provided [RCV000724916]|not specified [RCV000192503] Chr21:46391300 [GRCh38]
Chr21:47811215 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.7424G>A (p.Arg2475Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001141147]|not specified [RCV000192543] Chr21:46427725 [GRCh38]
Chr21:47847639 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.3550G>A (p.Gly1184Arg) single nucleotide variant not specified [RCV000192582] Chr21:46388827 [GRCh38]
Chr21:47808742 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.7104T>C (p.Pro2368=) single nucleotide variant not specified [RCV000192626] Chr21:46422049 [GRCh38]
Chr21:47841963 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.7819C>T (p.Arg2607Ter) single nucleotide variant not provided [RCV000254793] Chr21:46430138 [GRCh38]
Chr21:47850052 [GRCh37]
Chr21:21q22.3
pathogenic
NM_006031.6(PCNT):c.1843C>T (p.Gln615Ter) single nucleotide variant not provided [RCV000255087] Chr21:46355533 [GRCh38]
Chr21:47775448 [GRCh37]
Chr21:21q22.3
pathogenic
NM_006031.6(PCNT):c.4687G>C (p.Glu1563Gln) single nucleotide variant not specified [RCV000192726] Chr21:46399692 [GRCh38]
Chr21:47819606 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.7833C>T (p.Ser2611=) single nucleotide variant not specified [RCV000192853] Chr21:46430152 [GRCh38]
Chr21:47850066 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.6(PCNT):c.1943C>G (p.Pro648Arg) single nucleotide variant not provided [RCV000726134]|not specified [RCV000192903] Chr21:46356980 [GRCh38]
Chr21:47776895 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.3571C>T (p.Leu1191=) single nucleotide variant not specified [RCV000193051] Chr21:46388848 [GRCh38]
Chr21:47808763 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.321G>T (p.Lys107Asn) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000764269]|not specified [RCV000193130] Chr21:46334450 [GRCh38]
Chr21:47754364 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.6080A>G (p.Gln2027Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140185]|not provided [RCV000898984]|not specified [RCV000192953] Chr21:46412922 [GRCh38]
Chr21:47832836 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.1457-5T>A single nucleotide variant not specified [RCV000192976] Chr21:46353099 [GRCh38]
Chr21:47773013 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.5705G>A (p.Arg1902His) single nucleotide variant not specified [RCV000193015] Chr21:46411778 [GRCh38]
Chr21:47831692 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.6822G>A (p.Pro2274=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000395115]|not provided [RCV000973761]|not specified [RCV000193176] Chr21:46416740 [GRCh38]
Chr21:47836654 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140497]|not provided [RCV000726051]|not specified [RCV000193206] Chr21:46366807 [GRCh38]
Chr21:47786722 [GRCh37]
Chr21:21q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.6277G>A (p.Asp2093Asn) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001142788]|not provided [RCV000959797]|not specified [RCV000193247] Chr21:46416195 [GRCh38]
Chr21:47836109 [GRCh37]
Chr21:21q22.3
benign|likely benign|uncertain significance
NM_006031.6(PCNT):c.9886T>C (p.Ser3296Pro) single nucleotide variant not specified [RCV000193370] Chr21:46444740 [GRCh38]
Chr21:47864653 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.7259C>T (p.Pro2420Leu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138575]|not specified [RCV000193460] Chr21:46425910 [GRCh38]
Chr21:47845824 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.8284C>T (p.Arg2762Trp) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001141254]|not specified [RCV000193698] Chr21:46431748 [GRCh38]
Chr21:47851662 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.4216+9C>T single nucleotide variant not specified [RCV000193729] Chr21:46391385 [GRCh38]
Chr21:47811300 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.6141C>T (p.Asp2047=) single nucleotide variant not specified [RCV000193798] Chr21:46412983 [GRCh38]
Chr21:47832897 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.5940C>T (p.Gly1980=) single nucleotide variant not specified [RCV000193871] Chr21:46412013 [GRCh38]
Chr21:47831927 [GRCh37]
Chr21:21q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.9332G>A (p.Arg3111His) single nucleotide variant not specified [RCV000193931] Chr21:46440141 [GRCh38]
Chr21:47860054 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.6(PCNT):c.2865C>T (p.Ala955=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000299581]|not specified [RCV000194058] Chr21:46366839 [GRCh38]
Chr21:47786754 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.6(PCNT):c.9146T>C (p.Leu3049Pro) single nucleotide variant not provided [RCV000178469] Chr21:46438210 [GRCh38]
Chr21:47858123 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.2154+8G>A single nucleotide variant not specified [RCV000194139] Chr21:46357199 [GRCh38]
Chr21:47777114 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.4351C>T (p.Arg1451Cys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001142469]|not specified [RCV000194209] Chr21:46397399 [GRCh38]
Chr21:47817313 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.3710A>G (p.His1237Arg) single nucleotide variant not provided [RCV000766886]|not specified [RCV000194288] Chr21:46389301 [GRCh38]
Chr21:47809216 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.7332C>T (p.Thr2444=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000333773]|not specified [RCV000194333] Chr21:46427633 [GRCh38]
Chr21:47847547 [GRCh37]
Chr21:21q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.3403C>A (p.Arg1135=) single nucleotide variant not provided [RCV000959796]|not specified [RCV000194365] Chr21:46385922 [GRCh38]
Chr21:47805837 [GRCh37]
Chr21:21q22.3
benign|likely benign|uncertain significance
NM_006031.6(PCNT):c.6933C>T (p.Val2311=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001142889]|not provided [RCV000899557]|not specified [RCV000194401] Chr21:46418215 [GRCh38]
Chr21:47838129 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.9594G>A (p.Thr3198=) single nucleotide variant not provided [RCV000178537] Chr21:46441055 [GRCh38]
Chr21:47860968 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001002082]|not provided [RCV000723913]|not specified [RCV000178581] Chr21:46443816 [GRCh38]
Chr21:47863729 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.10007A>G (p.Gln3336Arg) single nucleotide variant not provided [RCV000178633] Chr21:46445323 [GRCh38]
Chr21:47865236 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.6651G>T (p.Gly2217=) single nucleotide variant not specified [RCV000194472] Chr21:46416569 [GRCh38]
Chr21:47836483 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.8646G>C (p.Leu2882Phe) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000404312]|not provided [RCV000958149]|not specified [RCV000194547] Chr21:46432110 [GRCh38]
Chr21:47852024 [GRCh37]
Chr21:21q22.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.7459C>G (p.Leu2487Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001141148]|not specified [RCV000194633] Chr21:46427760 [GRCh38]
Chr21:47847674 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.142G>C (p.Ala48Pro) single nucleotide variant not provided [RCV000895848]|not specified [RCV000194757] Chr21:46326464 [GRCh38]
Chr21:47746378 [GRCh37]
Chr21:21q22.3
benign|uncertain significance
NM_006031.6(PCNT):c.959G>A (p.Arg320Lys) single nucleotide variant not provided [RCV000178912] Chr21:46346981 [GRCh38]
Chr21:47766895 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.5543A>G (p.Glu1848Gly) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000394203]|not specified [RCV000194806] Chr21:46411616 [GRCh38]
Chr21:47831530 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.6819G>A (p.Gly2273=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001000787]|not specified [RCV000194941] Chr21:46416737 [GRCh38]
Chr21:47836651 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.2575G>A (p.Asp859Asn) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000384134]|not provided [RCV000958145]|not specified [RCV000194971] Chr21:46363900 [GRCh38]
Chr21:47783815 [GRCh37]
Chr21:21q22.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.6150+3G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140945]|not specified [RCV000195015] Chr21:46412995 [GRCh38]
Chr21:47832909 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.6(PCNT):c.5954C>T (p.Ser1985Phe) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000289510]|not provided [RCV000958146]|not specified [RCV000195091] Chr21:46412027 [GRCh38]
Chr21:47831941 [GRCh37]
Chr21:21q22.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.9618A>G (p.Ile3206Met) single nucleotide variant not specified [RCV000195135] Chr21:46441079 [GRCh38]
Chr21:47860992 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.2866G>A (p.Asp956Asn) single nucleotide variant not specified [RCV000195262] Chr21:46366840 [GRCh38]
Chr21:47786755 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.405C>T (p.Val135=) single nucleotide variant not provided [RCV000177252] Chr21:46334534 [GRCh38]
Chr21:47754448 [GRCh37]
Chr21:21q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.7136C>T (p.Pro2379Leu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000765513]|not provided [RCV000177653] Chr21:46422081 [GRCh38]
Chr21:47841995 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.7464C>G (p.Leu2488=) single nucleotide variant not provided [RCV000177793] Chr21:46427765 [GRCh38]
Chr21:47847679 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.8947C>T (p.Leu2983Phe) single nucleotide variant not provided [RCV000178007] Chr21:46436099 [GRCh38]
Chr21:47856012 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.9840-4G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000395258]|not provided [RCV000360931] Chr21:46444690 [GRCh38]
Chr21:47864603 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.9028A>G (p.Lys3010Glu) single nucleotide variant not specified [RCV000195206] Chr21:46437010 [GRCh38]
Chr21:47856923 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup) duplication Microcephalic osteodysplastic primordial dwarfism type II [RCV000625368]|not provided [RCV000951354]|not specified [RCV000194880] Chr21:46334557..46334558 [GRCh38]
Chr21:47754471..47754472 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_006031.6(PCNT):c.9293G>T (p.Trp3098Leu) single nucleotide variant not specified [RCV000192701] Chr21:46440102 [GRCh38]
Chr21:47860015 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.8659G>A (p.Gly2887Arg) single nucleotide variant not specified [RCV000192776] Chr21:46432123 [GRCh38]
Chr21:47852037 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.1224G>A (p.Leu408=) single nucleotide variant not specified [RCV000193532] Chr21:46349700 [GRCh38]
Chr21:47769614 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.4934_4935AG[2] (p.Arg1646fs) microsatellite Microcephalic osteodysplastic primordial dwarfism type II [RCV000193571] Chr21:46401693..46401694 [GRCh38]
Chr21:47821607..47821608 [GRCh37]
Chr21:21q22.3
pathogenic
NM_006031.6(PCNT):c.4625A>C (p.Glu1542Ala) single nucleotide variant not specified [RCV000193646] Chr21:46399630 [GRCh38]
Chr21:47819544 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.7454G>T (p.Ser2485Ile) single nucleotide variant not specified [RCV000193771] Chr21:46427755 [GRCh38]
Chr21:47847669 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.1714_1717del (p.Lys572fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV000193825] Chr21:46354019..46354022 [GRCh38]
Chr21:47773933..47773936 [GRCh37]
Chr21:21q22.3
pathogenic
NM_006031.6(PCNT):c.8820C>A (p.Asp2940Glu) single nucleotide variant not specified [RCV000194006] Chr21:46435972 [GRCh38]
Chr21:47855885 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.175G>A (p.Glu59Lys) single nucleotide variant not specified [RCV000194697] Chr21:46326497 [GRCh38]
Chr21:47746411 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000297259]|not provided [RCV000724920]|not specified [RCV000268033] Chr21:46357070 [GRCh38]
Chr21:47776985 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.2610-8T>C single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000287955]|not provided [RCV000294631] Chr21:46366576 [GRCh38]
Chr21:47786491 [GRCh37]
Chr21:21q22.3
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 21q22.3(chr21:44828064-48097372)x1 copy number loss See cases [RCV000449026] Chr21:44828064..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
NM_006031.6(PCNT):c.2728C>T (p.Gln910Ter) single nucleotide variant Inborn genetic diseases [RCV000210664] Chr21:46366702 [GRCh38]
Chr21:47786617 [GRCh37]
Chr21:21q22.3
pathogenic
NM_006031.6(PCNT):c.3594_3598dup (p.Leu1200fs) duplication Inborn genetic diseases [RCV000210709] Chr21:46388870..46388871 [GRCh38]
Chr21:47808785..47808786 [GRCh37]
Chr21:21q22.3
pathogenic
Single allele deletion Axenfeld-Rieger syndrome type 3 [RCV000677943] Chr21:46363553..48080926 [GRCh37]
Chr21:21q22.3
pathogenic
Single allele duplication not provided [RCV000768458] Chr21:43010560..48093051 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q22.3(chr21:46363553-48080926)x1 copy number loss See cases [RCV000239957] Chr21:46363553..48080926 [GRCh37]
Chr21:21q22.3
pathogenic
NM_006031.6(PCNT):c.5155G>A (p.Ala1719Thr) single nucleotide variant not specified [RCV000606009] Chr21:46411228 [GRCh38]
Chr21:47831142 [GRCh37]
Chr21:21q22.3
likely benign
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47550596-48080926)x1 copy number loss See cases [RCV000240055] Chr21:47550596..48080926 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_006031.6(PCNT):c.1393G>A (p.Glu465Lys) single nucleotide variant not provided [RCV000521179] Chr21:46351477 [GRCh38]
Chr21:47771391 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:46682125-48090317)x3 copy number gain See cases [RCV000240574] Chr21:46682125..48090317 [GRCh37]
Chr21:21q22.3
likely pathogenic
NM_006031.6(PCNT):c.4775T>G (p.Val1592Gly) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000268065] Chr21:46399780 [GRCh38]
Chr21:47819694 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.5554A>G (p.Met1852Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000305534] Chr21:46411627 [GRCh38]
Chr21:47831541 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.5826G>A (p.Arg1942=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000271861]|not specified [RCV000503644] Chr21:46411899 [GRCh38]
Chr21:47831813 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.6(PCNT):c.9720G>A (p.Pro3240=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000293793]|not provided [RCV000967578]|not specified [RCV000432111] Chr21:46443829 [GRCh38]
Chr21:47863742 [GRCh37]
Chr21:21q22.3
benign|likely benign|uncertain significance
NM_006031.6(PCNT):c.6295C>T (p.Pro2099Ser) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000296903] Chr21:46416213 [GRCh38]
Chr21:47836127 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.4953C>T (p.Arg1651=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000319830] Chr21:46401712 [GRCh38]
Chr21:47821626 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.445A>G (p.Ser149Gly) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000308289]|not provided [RCV000595754] Chr21:46334574 [GRCh38]
Chr21:47754488 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.1784C>T (p.Ala595Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000355924]|not provided [RCV000958144]|not specified [RCV000439945] Chr21:46355474 [GRCh38]
Chr21:47775389 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.6(PCNT):c.5648G>A (p.Arg1883Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000356797] Chr21:46411721 [GRCh38]
Chr21:47831635 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.247G>C (p.Gly83Arg) single nucleotide variant not provided [RCV000304348] Chr21:46326569 [GRCh38]
Chr21:47746483 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.5(PCNT):c.-100dupG duplication Microcephalic Osteodysplastic Primordial Dwarfism [RCV000281118] Chr21:46324123..46324124 [GRCh38]
Chr21:47744037..47744038 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.6754A>G (p.Ser2252Gly) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000281173] Chr21:46416672 [GRCh38]
Chr21:47836586 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.9128A>G (p.Gln3043Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000321432] Chr21:46438192 [GRCh38]
Chr21:47858105 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.1185T>C (p.Phe395=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000344336]|not specified [RCV000500921] Chr21:46349164 [GRCh38]
Chr21:47769078 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.6(PCNT):c.9099+14G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000271104] Chr21:46437095 [GRCh38]
Chr21:47857008 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.4432C>T (p.Arg1478Trp) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000309545] Chr21:46397480 [GRCh38]
Chr21:47817394 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.*307A>G single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000310516] Chr21:46445634 [GRCh38]
Chr21:47865547 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.5582C>T (p.Ala1861Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000357970] Chr21:46411655 [GRCh38]
Chr21:47831569 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.6983C>T (p.Pro2328Leu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000358048] Chr21:46418265 [GRCh38]
Chr21:47838179 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.7061G>T (p.Gly2354Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000323087] Chr21:46422006 [GRCh38]
Chr21:47841920 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.3395G>A (p.Arg1132Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000274175] Chr21:46385914 [GRCh38]
Chr21:47805829 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.2444C>T (p.Thr815Met) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000275017] Chr21:46363769 [GRCh38]
Chr21:47783684 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.4605G>T (p.Lys1535Asn) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000360610] Chr21:46399610 [GRCh38]
Chr21:47819524 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.1593G>A (p.Glu531=) single nucleotide variant not provided [RCV000340832] Chr21:46353240 [GRCh38]
Chr21:47773154 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.6790G>A (p.Ala2264Thr) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000395238] Chr21:46416708 [GRCh38]
Chr21:47836622 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.9949T>C (p.Leu3317=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000313955]|not specified [RCV000417563] Chr21:46444803 [GRCh38]
Chr21:47864716 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.6(PCNT):c.9099+8G>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000365683]|not provided [RCV000513496] Chr21:46437089 [GRCh38]
Chr21:47857002 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.4555G>A (p.Asp1519Asn) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000366517] Chr21:46398122 [GRCh38]
Chr21:47818036 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.3441C>T (p.Asp1147=) single nucleotide variant not provided [RCV000274924] Chr21:46385960 [GRCh38]
Chr21:47805875 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.721-7G>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000372635] Chr21:46346736 [GRCh38]
Chr21:47766650 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.2724C>G (p.His908Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000397221] Chr21:46366698 [GRCh38]
Chr21:47786613 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.8942G>A (p.Arg2981Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000397879] Chr21:46436094 [GRCh38]
Chr21:47856007 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.9291T>C (p.Ala3097=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000278585]|not specified [RCV000419416] Chr21:46440100 [GRCh38]
Chr21:47860013 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.6(PCNT):c.5741C>T (p.Ala1914Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000369884] Chr21:46411814 [GRCh38]
Chr21:47831728 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.418C>T (p.Pro140Ser) single nucleotide variant not provided [RCV000726080] Chr21:46334547 [GRCh38]
Chr21:47754461 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.6261G>A (p.Gln2087=) single nucleotide variant not specified [RCV000345737] Chr21:46416179 [GRCh38]
Chr21:47836093 [GRCh37]
Chr21:21q22.3
likely benign
NM_006031.6(PCNT):c.6648C>T (p.Val2216=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000280024] Chr21:46416566 [GRCh38]
Chr21:47836480 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.7118G>A (p.Gly2373Glu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000319449]|not specified [RCV000504151] Chr21:46422063 [GRCh38]
Chr21:47841977 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.4838C>T (p.Ala1613Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000321091]|not specified [RCV000504309] Chr21:46401597 [GRCh38]
Chr21:47821511 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.9278C>G (p.Ser3093Trp) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000373114]|not provided [RCV000485741] Chr21:46440087 [GRCh38]
Chr21:47860000 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.9532G>C (p.Gly3178Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000374060] Chr21:46440993 [GRCh38]
Chr21:47860906 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.9535dup (p.Val3179fs) duplication not provided [RCV000319424] Chr21:46440991..46440992 [GRCh38]
Chr21:47860904..47860905 [GRCh37]
Chr21:21q22.3
pathogenic
NM_006031.6(PCNT):c.5563C>A (p.Arg1855=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140067]|not provided [RCV000384267] Chr21:46411636 [GRCh38]
Chr21:47831550 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.513G>C (p.Met171Ile) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000323581] Chr21:46334642 [GRCh38]
Chr21:47754556 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.3716G>A (p.Arg1239His) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000377083]|Microcephaly [RCV001252741] Chr21:46389307 [GRCh38]
Chr21:47809222 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.6590T>C (p.Leu2197Pro) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000377944] Chr21:46416508 [GRCh38]
Chr21:47836422 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.4584+9G>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000308216] Chr21:46398264 [GRCh38]
Chr21:47818178 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.379C>G (p.Pro127Ala) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000401355] Chr21:46334508 [GRCh38]
Chr21:47754422 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.2647A>G (p.Ser883Gly) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000286654] Chr21:46366621 [GRCh38]
Chr21:47786536 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.6585C>T (p.Ser2195=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000328255] Chr21:46416503 [GRCh38]
Chr21:47836417 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.6032C>T (p.Ala2011Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000380473]|Microcephaly [RCV001252742]|not specified [RCV000440939] Chr21:46412874 [GRCh38]
Chr21:47832788 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.6(PCNT):c.24G>C (p.Arg8=) single nucleotide variant not provided [RCV000283964] Chr21:46324252 [GRCh38]
Chr21:47744166 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.5074G>A (p.Val1692Ile) single nucleotide variant not specified [RCV000387752] Chr21:46402442 [GRCh38]
Chr21:47822356 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity
NM_006031.6(PCNT):c.5792G>A (p.Arg1931His) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000330182] Chr21:46411865 [GRCh38]
Chr21:47831779 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.8116G>A (p.Val2706Met) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000333088] Chr21:46431580 [GRCh38]
Chr21:47851494 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.8172C>T (p.Ile2724=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000382941]|not provided [RCV000972195]|not specified [RCV000606084] Chr21:46431636 [GRCh38]
Chr21:47851550 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.6(PCNT):c.1107T>C (p.His369=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000383903]|not specified [RCV000420578] Chr21:46349086 [GRCh38]
Chr21:47769000 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.6(PCNT):c.5855C>T (p.Ala1952Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000765510]|not provided [RCV000726003]|not specified [RCV000286792] Chr21:46411928 [GRCh38]
Chr21:47831842 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.9217G>A (p.Val3073Met) single nucleotide variant not provided [RCV000390218] Chr21:46438281 [GRCh38]
Chr21:47858194 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.1155A>G (p.Ala385=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000291781] Chr21:46349134 [GRCh38]
Chr21:47769048 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.2247A>C (p.Glu749Asp) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000333587]|not specified [RCV000503878] Chr21:46363572 [GRCh38]
Chr21:47783487 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.5792G>T (p.Arg1931Leu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000387270]|not specified [RCV000502501] Chr21:46411865 [GRCh38]
Chr21:47831779 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.1084C>T (p.Arg362Cys) single nucleotide variant not provided [RCV000356467] Chr21:46349063 [GRCh38]
Chr21:47768977 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.4576G>A (p.Asp1526Asn) single nucleotide variant not provided [RCV000356055] Chr21:46398247 [GRCh38]
Chr21:47818161 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.6625G>A (p.Ala2209Thr) single nucleotide variant not provided [RCV000726079] Chr21:46416543 [GRCh38]
Chr21:47836457 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.7913+4C>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000356468] Chr21:46430236 [GRCh38]
Chr21:47850150 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.7180-8C>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000292851]|not provided [RCV000950495]|not specified [RCV000426357] Chr21:46425823 [GRCh38]
Chr21:47845737 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.947A>T (p.Glu316Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000293131] Chr21:46346969 [GRCh38]
Chr21:47766883 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.5027T>C (p.Ile1676Thr) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000294771] Chr21:46402395 [GRCh38]
Chr21:47822309 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.5(PCNT):c.-100delG deletion Microcephalic Osteodysplastic Primordial Dwarfism [RCV000336290] Chr21:46324124 [GRCh38]
Chr21:47744038 [GRCh37]
Chr21:21q22.3
benign
NM_006031.6(PCNT):c.4223G>A (p.Arg1408Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000336567] Chr21:46397271 [GRCh38]
Chr21:47817185 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.7681C>G (p.Arg2561Gly) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000393216] Chr21:46428581 [GRCh38]
Chr21:47848495 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.*391_*396del deletion Microcephalic Osteodysplastic Primordial Dwarfism [RCV000265949] Chr21:46445714..46445719 [GRCh38]
Chr21:47865627..47865632 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.6468A>G (p.Pro2156=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000276778] Chr21:46416386 [GRCh38]
Chr21:47836300 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.8399G>A (p.Arg2800Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000383917] Chr21:46431863 [GRCh38]
Chr21:47851777 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.5477G>C (p.Gly1826Ala) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000394210]|not specified [RCV000600080] Chr21:46411550 [GRCh38]
Chr21:47831464 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.6(PCNT):c.*101T>G single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000395264] Chr21:46445428 [GRCh38]
Chr21:47865341 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.5(PCNT):c.-75G>A single nucleotide variant Microcephalic Osteodysplastic Primordial Dwarfism [RCV000395627] Chr21:46324154 [GRCh38]
Chr21:47744068 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.8028C>T (p.His2676=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000277940] Chr21:46430621 [GRCh38]
Chr21:47850535 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.5707C>T (p.Arg1903Cys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000259608]|not provided [RCV000890588] Chr21:46411780 [GRCh38]
Chr21:47831694 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.6(PCNT):c.721-5C>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000261450] Chr21:46346738 [GRCh38]
Chr21:47766652 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.5960A>T (p.Asp1987Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000342120] Chr21:46412033 [GRCh38]
Chr21:47831947 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.1479G>A (p.Ala493=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000342988]|not provided [RCV000902691] Chr21:46353126 [GRCh38]
Chr21:47773040 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.6(PCNT):c.1236T>C (p.His412=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000397504] Chr21:46349712 [GRCh38]
Chr21:47769626 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.4387C>A (p.Leu1463Met) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000401096] Chr21:46397435 [GRCh38]
Chr21:47817349 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000765511]|not provided [RCV000328923] Chr21:46412048 [GRCh38]
Chr21:47831962 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.2108A>T (p.Tyr703Phe) single nucleotide variant not provided [RCV000362627] Chr21:46357145 [GRCh38]
Chr21:47777060 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.3682A>G (p.Met1228Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000267303] Chr21:46389273 [GRCh38]
Chr21:47809188 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.7836C>T (p.Asp2612=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000360772]|not specified [RCV000503719] Chr21:46430155 [GRCh38]
Chr21:47850069 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.6(PCNT):c.1971C>G (p.Asp657Glu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000263126]|not provided [RCV000518869] Chr21:46357008 [GRCh38]
Chr21:47776923 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.5726C>T (p.Pro1909Leu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000298764] Chr21:46411799 [GRCh38]
Chr21:47831713 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.5402C>A (p.Ala1801Asp) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000346380] Chr21:46411475 [GRCh38]
Chr21:47831389 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.6876C>T (p.Ala2292=) single nucleotide variant not provided [RCV000726135]|not specified [RCV000296707] Chr21:46416794 [GRCh38]
Chr21:47836708 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.930C>T (p.His310=) single nucleotide variant not provided [RCV000330704] Chr21:46346952 [GRCh38]
Chr21:47766866 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.7300C>A (p.Leu2434Ile) single nucleotide variant not specified [RCV000330953] Chr21:46425951 [GRCh38]
Chr21:47845865 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity
NM_006031.6(PCNT):c.1281C>T (p.His427=) single nucleotide variant not provided [RCV000366032] Chr21:46349757 [GRCh38]
Chr21:47769671 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.6635G>A (p.Arg2212Gln) single nucleotide variant not provided [RCV000724917]|not specified [RCV000402652] Chr21:46416553 [GRCh38]
Chr21:47836467 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.2677G>A (p.Ala893Thr) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000339364] Chr21:46366651 [GRCh38]
Chr21:47786566 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.4378G>A (p.Val1460Ile) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000349212] Chr21:46397426 [GRCh38]
Chr21:47817340 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.904G>A (p.Glu302Lys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000389775]|not provided [RCV000905227] Chr21:46346926 [GRCh38]
Chr21:47766840 [GRCh37]
Chr21:21q22.3
benign|uncertain significance
NM_006031.6(PCNT):c.1370A>G (p.Glu457Gly) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000304749] Chr21:46351454 [GRCh38]
Chr21:47771368 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.6914C>T (p.Thr2305Met) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000306333] Chr21:46416832 [GRCh38]
Chr21:47836746 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.-25G>C single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000351200] Chr21:46324204 [GRCh38]
Chr21:47744118 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_006031.6(PCNT):c.481_519dup (p.Val161_Thr173dup) duplication not provided [RCV000300906] Chr21:46334596..46334597 [GRCh38]
Chr21:47754510..47754511 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.1246A>G (p.Ile416Val) single nucleotide variant not provided [RCV000726592]|not specified [RCV000336187] Chr21:46349722 [GRCh38]
Chr21:47769636 [GRCh37]
Chr21:21q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.9700+10C>T single nucleotide variant not specified [RCV000597485] Chr21:46442583 [GRCh38]
Chr21:47862496 [GRCh37]
Chr21:21q22.3
likely benign
NM_006031.6(PCNT):c.3465-1G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000758566] Chr21:46388741 [GRCh38]
Chr21:47808656 [GRCh37]
Chr21:21q22.3
pathogenic|likely pathogenic
NM_006031.6(PCNT):c.1963G>T (p.Val655Leu) single nucleotide variant not provided [RCV000522473] Chr21:46357000 [GRCh38]
Chr21:47776915 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.*421A>G single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000302416] Chr21:46445748 [GRCh38]
Chr21:47865661 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.3206A>G (p.Lys1069Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000314049] Chr21:46381734 [GRCh38]
Chr21:47801649 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.*22del deletion Microcephalic Osteodysplastic Primordial Dwarfism [RCV000345351] Chr21:46445348 [GRCh38]
Chr21:47865261 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.3166-2A>C single nucleotide variant not provided [RCV000315859] Chr21:46381692 [GRCh38]
Chr21:47801607 [GRCh37]
Chr21:21q22.3
likely pathogenic
NM_006031.6(PCNT):c.*343_*346del deletion Microcephalic Osteodysplastic Primordial Dwarfism [RCV000365108] Chr21:46445667..46445670 [GRCh38]
Chr21:47865580..47865583 [GRCh37]
Chr21:21q22.3
likely benign
NM_006031.6(PCNT):c.788A>G (p.Glu263Gly) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000332937] Chr21:46346810 [GRCh38]
Chr21:47766724 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.6150+10G>C single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000283733] Chr21:46413002 [GRCh38]
Chr21:47832916 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.3762G>A (p.Gln1254=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000319022] Chr21:46389353 [GRCh38]
Chr21:47809268 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.5257C>T (p.Leu1753=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000385636] Chr21:46411330 [GRCh38]
Chr21:47831244 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.5177A>G (p.Glu1726Gly) single nucleotide variant not provided [RCV000521325] Chr21:46411250 [GRCh38]
Chr21:47831164 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000765509]|not provided [RCV000597273] Chr21:46399680 [GRCh38]
Chr21:47819594 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.-35T>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000296269] Chr21:46324194 [GRCh38]
Chr21:47744108 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.8996+5G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000369422] Chr21:46436153 [GRCh38]
Chr21:47856066 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.6416C>T (p.Thr2139Ile) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000371230] Chr21:46416334 [GRCh38]
Chr21:47836248 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.2075T>C (p.Ile692Thr) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000354365] Chr21:46357112 [GRCh38]
Chr21:47777027 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.3423C>T (p.Leu1141=) single nucleotide variant not specified [RCV000604975] Chr21:46385942 [GRCh38]
Chr21:47805857 [GRCh37]
Chr21:21q22.3
likely benign
NM_006031.6(PCNT):c.3714G>C (p.Met1238Ile) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000324748] Chr21:46389305 [GRCh38]
Chr21:47809220 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.6395A>G (p.Asn2132Ser) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000312029] Chr21:46416313 [GRCh38]
Chr21:47836227 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.9211A>G (p.Arg3071Gly) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000376079] Chr21:46438275 [GRCh38]
Chr21:47858188 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.8830_8832del (p.Lys2944del) deletion Microcephalic Osteodysplastic Primordial Dwarfism [RCV000301127]|not provided [RCV000884347] Chr21:46435981..46435983 [GRCh38]
Chr21:47855894..47855896 [GRCh37]
Chr21:21q22.3
benign|uncertain significance
NM_006031.6(PCNT):c.3464G>A (p.Arg1155Lys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000312912] Chr21:46385983 [GRCh38]
Chr21:47805898 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.3464+4A>T single nucleotide variant not provided [RCV000591852] Chr21:46385987 [GRCh38]
Chr21:47805902 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.3757G>T (p.Glu1253Ter) single nucleotide variant not provided [RCV000591990] Chr21:46389348 [GRCh38]
Chr21:47809263 [GRCh37]
Chr21:21q22.3
pathogenic
NM_006031.6(PCNT):c.8989G>A (p.Val2997Met) single nucleotide variant not provided [RCV000592641] Chr21:46436141 [GRCh38]
Chr21:47856054 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.8810C>T (p.Thr2937Ile) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138353] Chr21:46435962 [GRCh38]
Chr21:47855875 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.8829G>A (p.Ser2943=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138354] Chr21:46435981 [GRCh38]
Chr21:47855894 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.8894C>T (p.Ala2965Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138355] Chr21:46436046 [GRCh38]
Chr21:47855959 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.7180-7G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138143]|not provided [RCV000597112] Chr21:46425824 [GRCh38]
Chr21:47845738 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.5636C>G (p.Ala1879Gly) single nucleotide variant not provided [RCV000520998] Chr21:46411709 [GRCh38]
Chr21:47831623 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.4946T>C (p.Leu1649Pro) single nucleotide variant not provided [RCV000593422] Chr21:46401705 [GRCh38]
Chr21:47821619 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.7574G>A (p.Arg2525His) single nucleotide variant not provided [RCV000591153] Chr21:46428474 [GRCh38]
Chr21:47848388 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.874C>G (p.Leu292Val) single nucleotide variant not provided [RCV000591394] Chr21:46346896 [GRCh38]
Chr21:47766810 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.7939G>A (p.Glu2647Lys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138675] Chr21:46430532 [GRCh38]
Chr21:47850446 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.6644C>T (p.Pro2215Leu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138473] Chr21:46416562 [GRCh38]
Chr21:47836476 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.4863T>G (p.Asp1621Glu) single nucleotide variant not provided [RCV000728392] Chr21:46401622 [GRCh38]
Chr21:47821536 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_006031.6(PCNT):c.7966G>C (p.Glu2656Gln) single nucleotide variant not provided [RCV000733433] Chr21:46430559 [GRCh38]
Chr21:47850473 [GRCh37]
Chr21:21q22.3
uncertain significance