PCNT (pericentrin) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: PCNT (pericentrin) Homo sapiens
Analyze
Symbol: PCNT
Name: pericentrin
RGD ID: 1317411
HGNC Page HGNC:16068
Description: Predicted to enable calmodulin binding activity and molecular adaptor activity. Involved in mitotic spindle organization and positive regulation of intracellular protein transport. Acts upstream of or within cilium assembly. Located in centriolar satellite; centriole; and cytosol. Implicated in microcephalic osteodysplastic primordial dwarfism type II. Biomarker of Down syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: KEN; kendrin; MOPD2; PCN; PCNT2; PCNTB; PCTN2; pericentrin (kendrin); pericentrin B; pericentrin-2; pericentrin-380; pericentrin-B; SCKL4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382146,324,156 - 46,445,769 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2146,324,124 - 46,445,769 (+)Ensemblhg38GRCh38
GRCh372147,744,070 - 47,865,682 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,568,483 - 46,690,110 (+)NCBIBuild 36Build 36hg18NCBI36
Build 342146,568,482 - 46,690,106NCBI
Celera2132,857,810 - 32,978,856 (+)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2133,126,870 - 33,245,591 (+)NCBIHuRef
CHM1_12147,304,775 - 47,426,531 (+)NCBICHM1_1
T2T-CHM13v2.02144,709,501 - 44,831,895 (+)NCBIT2T-CHM13v2.0
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal cerebral vascular morphology  (IAGP)
Abnormal dental enamel morphology  (IAGP)
Abnormal earlobe morphology  (IAGP)
Abnormal epiphysis morphology  (IAGP)
Abnormal female external genitalia morphology  (IAGP)
Abnormal metaphysis morphology  (IAGP)
Abnormally high-pitched voice  (IAGP)
Absent earlobe  (IAGP)
Advanced ossification of carpal bones  (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)
Bifid uvula  (IAGP)
Blue sclerae  (IAGP)
Brachydactyly  (IAGP)
Broad foot  (IAGP)
Broad thumb  (IAGP)
Cachexia  (IAGP)
Cafe-au-lait spot  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarse facial features  (IAGP)
Cognitive impairment  (IAGP)
Cone-shaped epiphysis  (IAGP)
Convex nasal ridge  (IAGP)
Coxa valga  (IAGP)
Coxa vara  (IAGP)
Craniosynostosis  (IAGP)
Cutaneous syndactyly  (IAGP)
Delayed ability to walk  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Dental crowding  (IAGP)
Depressed nasal bridge  (IAGP)
Dilatation of the cerebral artery  (IAGP)
Disproportionate short stature  (IAGP)
Distal symphalangism  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dry skin  (IAGP)
Enamel hypoplasia  (IAGP)
Epicanthus  (IAGP)
Epiphyseal dysplasia  (IAGP)
Fetal onset  (IAGP)
Fine hair  (IAGP)
Flared metaphysis  (IAGP)
Flat acetabular roof  (IAGP)
Flat face  (IAGP)
Full cheeks  (IAGP)
Genu varum  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hip dislocation  (IAGP)
Hip dysplasia  (IAGP)
Hypermetropia  (IAGP)
Hypernasal speech  (IAGP)
Hypodontia  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplastic iliac wing  (IAGP)
Hypoplastic scapulae  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Ivory epiphyses  (IAGP)
Joint hypermobility  (IAGP)
Knee dislocation  (IAGP)
Large sella turcica  (IAGP)
Laryngomalacia  (IAGP)
Limited elbow extension  (IAGP)
Long clavicles  (IAGP)
Long philtrum  (IAGP)
Low-set ears  (IAGP)
Lumbar hyperlordosis  (IAGP)
Megacolon  (IAGP)
Metacarpal pseudoepiphysis  (IAGP)
Metaphyseal widening  (IAGP)
Metatarsus adductus  (IAGP)
Microcephaly  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Microtia  (IAGP)
Mild global developmental delay  (IAGP)
Monkey wrench femoral neck  (IAGP)
Moyamoya phenomenon  (IAGP)
Multiple cafe-au-lait spots  (IAGP)
Narrow chest  (IAGP)
Narrow face  (IAGP)
Narrow palpebral fissure  (IAGP)
Narrow pelvis bone  (IAGP)
Neonatal respiratory distress  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Pes planus  (IAGP)
Platyspondyly  (IAGP)
Postnatal growth retardation  (IAGP)
Precocious puberty  (IAGP)
Prematurely aged appearance  (IAGP)
Prominent lesser trochanter  (IAGP)
Prominent nasal bridge  (IAGP)
Prominent nose  (IAGP)
Proptosis  (IAGP)
Proximal femoral epiphysiolysis  (IAGP)
Radial bowing  (IAGP)
Radial head subluxation  (IAGP)
Recurrent respiratory infections  (IAGP)
Relative macrocephaly  (IAGP)
Retrognathia  (IAGP)
Round face  (IAGP)
Sandal gap  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe short stature  (IAGP)
Short 1st metacarpal  (IAGP)
Short clavicles  (IAGP)
Short distal phalanx of finger  (IAGP)
Short long bone  (IAGP)
Short metacarpal  (IAGP)
Short middle phalanx of finger  (IAGP)
Short neck  (IAGP)
Short phalanx of finger  (IAGP)
Short stature  (IAGP)
Single transverse palmar crease  (IAGP)
Slender long bone  (IAGP)
Sloping forehead  (IAGP)
Sparse scalp hair  (IAGP)
Straight clavicles  (IAGP)
Stroke  (IAGP)
Synophrys  (IAGP)
Thin clavicles  (IAGP)
Tibial bowing  (IAGP)
Toe clinodactyly  (IAGP)
Tooth agenesis  (IAGP)
Tracheal stenosis  (IAGP)
Truncal obesity  (IAGP)
Type II diabetes mellitus  (IAGP)
Ulnar bowing  (IAGP)
Underdeveloped nasal alae  (IAGP)
Upslanted palpebral fissure  (IAGP)
Vascular dilatation  (IAGP)
Ventriculomegaly  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Griffith E, etal., Nat Genet. 2008 Feb;40(2):232-6. Epub 2007 Dec 23.
3. The smallest teeth in the world are caused by mutations in the PCNT gene. Kantaputra P, etal., Am J Med Genet A. 2011 Jun;155A(6):1398-403. doi: 10.1002/ajmg.a.33984. Epub 2011 May 12.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. PKC-interacting proteins: from function to pharmacology. Poole AW, etal., Trends Pharmacol Sci. 2004 Oct;25(10):528-35.
6. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Rauch A, etal., Science. 2008 Feb 8;319(5864):816-9. doi: 10.1126/science.1151174. Epub 2008 Jan 3.
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. Gene expression profiling and qRT-PCR expression of RRP1B, PCNT, KIF21A and ADRB2 in leucocytes of Down's syndrome subjects. Salemi M, etal., J Genet. 2012 Mar 13;91(1):e18-23.
11. Pericentrin expression in Down's syndrome. Salemi M, etal., Neurol Sci. 2013 Nov;34(11):2023-5. doi: 10.1007/s10072-013-1529-z. Epub 2013 Aug 27.
12. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. Willems M, etal., J Med Genet. 2010 Dec;47(12):797-802. doi: 10.1136/jmg.2009.067298. Epub 2009 Jul 29.
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:26949739   PMID:27137183   PMID:27880917   PMID:28514442   PMID:28611215   PMID:28700943   PMID:28718761   PMID:29395067   PMID:29478914   PMID:29507755   PMID:29708497  
PMID:30021884   PMID:30054381   PMID:30100262   PMID:30274258   PMID:30413633   PMID:30420784   PMID:30581152   PMID:30745168   PMID:30804344   PMID:30814333   PMID:30940648   PMID:30979931  
PMID:31076518   PMID:31311520   PMID:31586073   PMID:31839598   PMID:32060285   PMID:32255253   PMID:32267100   PMID:32353859   PMID:32557621   PMID:32694731   PMID:32744776   PMID:32838362  
PMID:32877691   PMID:33060197   PMID:33111431   PMID:33170211   PMID:33460028   PMID:33503405   PMID:33853758   PMID:33916271   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34233584  
PMID:34418690   PMID:34709266   PMID:34709727   PMID:34732716   PMID:34978779   PMID:35044719   PMID:35235311   PMID:35271311   PMID:35563538   PMID:35575683   PMID:35748872   PMID:35914814  
PMID:37071682   PMID:37105989   PMID:37211383   PMID:37575477   PMID:37788672   PMID:37827155   PMID:37937642   PMID:38580884   PMID:40355756   PMID:40437099  


Genomics

Comparative Map Data
PCNT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382146,324,156 - 46,445,769 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2146,324,124 - 46,445,769 (+)Ensemblhg38GRCh38
GRCh372147,744,070 - 47,865,682 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,568,483 - 46,690,110 (+)NCBIBuild 36Build 36hg18NCBI36
Build 342146,568,482 - 46,690,106NCBI
Celera2132,857,810 - 32,978,856 (+)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2133,126,870 - 33,245,591 (+)NCBIHuRef
CHM1_12147,304,775 - 47,426,531 (+)NCBICHM1_1
T2T-CHM13v2.02144,709,501 - 44,831,895 (+)NCBIT2T-CHM13v2.0
Pcnt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391076,187,098 - 76,279,988 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1076,187,097 - 76,278,620 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm381076,351,254 - 76,442,912 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1076,351,263 - 76,442,786 (-)Ensemblmm10GRCm38
MGSCv371075,813,999 - 75,905,657 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361075,794,980 - 75,886,622 (-)NCBIMGSCv36mm8
Celera1077,395,555 - 77,487,301 (-)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1038.8NCBI
Pcnt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82012,189,767 - 12,278,179 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl2012,192,353 - 12,278,178 (+)EnsemblGRCr8
mRatBN7.22012,190,597 - 12,278,723 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2012,191,648 - 12,278,710 (+)EnsemblmRatBN7.2
Rnor_6.02012,943,523 - 13,038,615 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2012,944,786 - 13,038,431 (+)Ensemblrn6Rnor6.0
Rnor_5.02015,102,765 - 15,195,221 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.42012,608,650 - 12,694,390 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
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 (+)Ensembl
ChiLan1.0NW_00495540742,735,078 - 42,835,851 (+)NCBIChiLan1.0ChiLan1.0
PCNT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22242,420,957 - 42,624,254 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12137,295,516 - 37,433,582 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02132,665,361 - 32,741,592 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12145,914,665 - 46,042,990 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2145,914,665 - 46,042,990 (+)EnsemblpanPan2panpan1.1
PCNT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13139,576,344 - 39,677,118 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3139,578,039 - 39,676,820 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha3138,805,612 - 38,906,957 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.03139,219,042 - 39,320,435 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3139,219,104 - 39,320,441 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13139,080,651 - 39,182,002 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03139,041,590 - 39,142,922 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03139,559,470 - 39,660,821 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Pcnt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497138,882,745 - 38,980,366 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936778149,177 - 247,357 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_004936778149,844 - 248,905 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PCNT
(Sus scrofa - pig)		 No map positions available.
PCNT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1289,934,888 - 90,046,767 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl289,936,210 - 90,046,328 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366605418,328,339 - 18,445,620 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pcnt
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474531,403,014 - 31,515,751 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462474531,402,791 - 31,516,522 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
Pcnt
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v18106,693,360 - 106,777,712 (+)NCBIRrattus_CSIRO_v1

Variants

.
Variants in PCNT
3860 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006031.6(PCNT):c.8996+332_8996+333insGC insertion not provided [RCV001581893] Chr21:46436479..46436480 [GRCh38]
Chr21:47856392..47856393 [GRCh37]
Chr21:21q22.3		 likely benign
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
NM_006031.6(PCNT):c.9457AAG[1] (p.Lys3154del) microsatellite Microcephalic osteodysplastic primordial dwarfism type II [RCV000023499] Chr21:46440918..46440920 [GRCh38]
Chr21:47860831..47860833 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3460G>T (p.Glu1154Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000023500]|not provided [RCV003556077] 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]|not provided [RCV001851658] Chr21:46411840 [GRCh38]
Chr21:47831754 [GRCh37]
Chr21:21q22.3		 pathogenic|likely 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]|not provided [RCV003555918] 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 PCNT-related disorder [RCV003409743]|not provided [RCV000520120] Chr21:46363585 [GRCh38]
Chr21:47783500 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4727A>G (p.Lys1576Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001331524] Chr21:46399732 [GRCh38]
Chr21:47819646 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8089C>A (p.Gln2697Lys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001331526] Chr21:46431553 [GRCh38]
Chr21:47851467 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1995G>T (p.Glu665Asp) single nucleotide variant PCNT-related disorder [RCV003942706]|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|no classifications from unflagged records
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]|PCNT-related disorder [RCV003982880]|not provided [RCV002055201]|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 provided [RCV002055202]|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 provided [RCV002055203]|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 provided [RCV001573108]|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 provided [RCV001664380]|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 provided [RCV001707523]|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 provided [RCV001668203]|not specified [RCV000081361] Chr21:46436140 [GRCh38]
Chr21:47856053 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001001726]|not provided [RCV001573704]|not specified [RCV000147206] Chr21:46428552 [GRCh38]
Chr21:47848466 [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 provided [RCV002055722]|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 provided [RCV002055723]|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 provided [RCV002055724]|not specified [RCV000147204] Chr21:46428545 [GRCh38]
Chr21:47848459 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.7800G>A (p.Ala2600=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001000347]|not provided [RCV002055725]|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 provided [RCV002055726]|not specified [RCV000147213] Chr21:46430193 [GRCh38]
Chr21:46430193..46430194 [GRCh38]
Chr21:47850107 [GRCh37]
Chr21:47850107..47850108 [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 provided [RCV002055727]|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]|PCNT-related disorder [RCV003905213]|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 provided [RCV001573926]|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 provided [RCV002055728]|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 provided [RCV001572793]|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 provided [RCV002055729]|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 provided [RCV001572715]|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 provided [RCV002055730]|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 provided [RCV004713340]|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 provided [RCV001573311]|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 provided [RCV002055731]|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]|PCNT-related disorder [RCV003975124]|not provided [RCV002055732]|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 provided [RCV002055733]|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 provided [RCV002055734]|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 provided [RCV002055735]|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 provided [RCV002055736]|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 provided [RCV002055737]|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 provided [RCV002055738]|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 provided [RCV002055739]|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 provided [RCV002055740]|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 provided [RCV002055741]|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 provided [RCV002055742]|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 provided [RCV001572898]|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 Microcephalic osteodysplastic primordial dwarfism type II [RCV002051822]|not provided [RCV000171353] Chr21:46363699 [GRCh38]
Chr21:47783614 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_006031.6(PCNT):c.307C>T (p.Gln103Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005057835]|PCNT-related disorder [RCV004741169]|not provided [RCV001959195] Chr21:46334436 [GRCh38]
Chr21:47754350 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.1457-12G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001287411]|not provided [RCV002537957] Chr21:46353092 [GRCh38]
Chr21:47773006 [GRCh37]
Chr21:21q22.3		 likely benign
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.1542C>A (p.Ser514=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000616137]|not provided [RCV001598628]|not specified [RCV000147090] Chr21:46353189 [GRCh38]
Chr21:47773103 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1040A>G (p.Lys347Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147087]|PCNT-related disorder [RCV003917448]|not provided [RCV002515971] Chr21:46349019 [GRCh38]
Chr21:47768933 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.1207+34A>T single nucleotide variant not provided [RCV001682851]|not specified [RCV000147088] Chr21:46349220 [GRCh38]
Chr21:47769134 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.1468C>T (p.Gln490Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147089]|not provided [RCV003556189] Chr21:46353115 [GRCh38]
Chr21:47773029 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.1616C>T (p.Thr539Ile) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000303478]|not provided [RCV001610449]|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 provided [RCV001711588]|not specified [RCV000147092] Chr21:46356930 [GRCh38]
Chr21:47776845 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.2111G>A (p.Gly704Glu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000605799]|not provided [RCV001530890]|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]|PCNT-related disorder [RCV003407565]|not provided [RCV001857519] 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]|PCNT-related disorder [RCV003982902]|not provided [RCV001657839]|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 provided [RCV001618299]|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 provided [RCV001541812]|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]|PCNT-related disorder [RCV003917449]|not provided [RCV001849987]|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 provided [RCV001682852]|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 provided [RCV001534494]|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]|PCNT-related disorder [RCV003398787]|not provided [RCV002055912] Chr21:46381748 [GRCh38]
Chr21:47801663 [GRCh37]
Chr21:21q22.3		 likely benign|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 provided [RCV001682853]|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]|PCNT-related disorder [RCV003927437]|not provided [RCV003764890] Chr21:46334465 [GRCh38]
Chr21:47754379 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.339T>A (p.Pro113=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147112]|PCNT-related disorder [RCV003927438]|not provided [RCV003764891] Chr21:46334468 [GRCh38]
Chr21:47754382 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.3465-40C>T single nucleotide variant not provided [RCV001719921]|not specified [RCV000147113] Chr21:46388702 [GRCh38]
Chr21:47808617 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.3487C>T (p.Arg1163Cys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000365165]|not provided [RCV001682854]|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 provided [RCV001573384]|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 Inborn genetic diseases [RCV002514826]|Microcephalic osteodysplastic primordial dwarfism type II [RCV000147116]|PCNT-related disorder [RCV003415977]|not provided [RCV001849988] 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]|PCNT-related disorder [RCV003975156]|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]|PCNT-related disorder [RCV003927439]|not provided [RCV002055913]|not specified [RCV000614027] Chr21:46391299 [GRCh38]
Chr21:47811214 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_006031.6(PCNT):c.4175G>A (p.Arg1392Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147121]|not provided [RCV003718122] Chr21:46391335 [GRCh38]
Chr21:47811250 [GRCh37]
Chr21:21q22.3		 benign|uncertain significance
NM_006031.6(PCNT):c.4197C>T (p.Asp1399=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000279190]|not provided [RCV001528092]|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]|PCNT-related disorder [RCV003398788]|not provided [RCV001857520] 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]|PCNT-related disorder [RCV003407566]|not provided [RCV001582614]|not specified [RCV000147125] Chr21:46334557 [GRCh38]
Chr21:47754471 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000605004]|PCNT-related disorder [RCV003975157]|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 Intellectual disability [RCV001258292]|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]|PCNT-related disorder [RCV003917450]|not provided [RCV003764892] Chr21:46397479 [GRCh38]
Chr21:47817393 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.445A>T (p.Ser149Cys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147129]|PCNT-related disorder [RCV003398789]|not provided [RCV000522969] Chr21:46334574 [GRCh38]
Chr21:47754488 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.4571C>G (p.Pro1524Arg) single nucleotide variant Inborn genetic diseases [RCV004019777]|Microcephalic osteodysplastic primordial dwarfism type II [RCV001139939]|PCNT-related disorder [RCV003975158]|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 provided [RCV003688829]|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]|PCNT-related disorder [RCV003935250]|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 provided [RCV001689689]|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|likely pathogenic
NM_006031.6(PCNT):c.506G>A (p.Arg169His) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001139529]|PCNT-related disorder [RCV004739470]|not provided [RCV001565633]|not specified [RCV000147142] Chr21:46334635 [GRCh38]
Chr21:47754549 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_006031.6(PCNT):c.5199G>A (p.Lys1733=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000333502]|PCNT-related disorder [RCV003917451]|not provided [RCV001711308]|not specified [RCV000406218] Chr21:46411272 [GRCh38]
Chr21:47831186 [GRCh37]
Chr21:21q22.3		 benign|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]|not provided [RCV003669108] Chr21:46326372 [GRCh38]
Chr21:47746286 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.5578G>T (p.Glu1860Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147151]|not provided [RCV003556190] 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 provided [RCV001711309]|not specified [RCV000147157] Chr21:46412105 [GRCh38]
Chr21:47832019 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.5994+48T>G single nucleotide variant not provided [RCV001668295]|not specified [RCV000147158] Chr21:46412115 [GRCh38]
Chr21:47832029 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.6150+11G>C single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000341105]|not provided [RCV001640182]|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 provided [RCV001533909]|not specified [RCV000147161] Chr21:46413041 [GRCh38]
Chr21:47832955 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.640-38T>G single nucleotide variant not provided [RCV001640183]|not specified [RCV000147165] Chr21:46346090 [GRCh38]
Chr21:47766004 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.640-8T>G single nucleotide variant not provided [RCV003764893]|not specified [RCV000147166] Chr21:46346120 [GRCh38]
Chr21:47766034 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.6571T>C (p.Ser2191Pro) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000362982]|not provided [RCV001573405]|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]|PCNT-related disorder [RCV003398790]|not provided [RCV001857521] 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 provided [RCV002055914]|not specified [RCV000147178] Chr21:46416679 [GRCh38]
Chr21:47836593 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_006031.6(PCNT):c.6821C>T (p.Pro2274Leu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000601800]|not provided [RCV001668296]|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 provided [RCV001539562]|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]|PCNT-related disorder [RCV003917452]|not provided [RCV002055915] Chr21:46418293 [GRCh38]
Chr21:47838207 [GRCh37]
Chr21:21q22.3		 likely benign|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]|PCNT-related disorder [RCV003975159]|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 provided [RCV001558574]|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 provided [RCV004713382]|not specified [RCV000147194] Chr21:46346240 [GRCh38]
Chr21:47766154 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.721-7G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000608754]|not provided [RCV001711409]|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]|PCNT-related disorder [RCV003905272]|not provided [RCV001849989] Chr21:46425948 [GRCh38]
Chr21:47845862 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.7321-10C>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147197]|not provided [RCV003574714] Chr21:46427612 [GRCh38]
Chr21:47847526 [GRCh37]
Chr21:21q22.3		 likely benign|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]|PCNT-related disorder [RCV003982903]|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]|PCNT-related disorder [RCV004739472]|not provided [RCV002514827] Chr21:46427766 [GRCh38]
Chr21:47847680 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7494+48G>A single nucleotide variant not provided [RCV001668297]|not specified [RCV000147202] Chr21:46427843 [GRCh38]
Chr21:47847757 [GRCh37]
Chr21:21q22.3		 benign|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]|PCNT-related disorder [RCV003982904]|not provided [RCV000593921] Chr21:46428555 [GRCh38]
Chr21:47848469 [GRCh37]
Chr21:21q22.3		 likely benign|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]|PCNT-related disorder [RCV003975160]|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 provided [RCV001538280]|not specified [RCV000147214] Chr21:46430264 [GRCh38]
Chr21:47850178 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.7913+40C>T single nucleotide variant not provided [RCV001682855]|not specified [RCV000147215] Chr21:46430272 [GRCh38]
Chr21:47850186 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.7914-16C>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000613595]|not provided [RCV001540816]|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 provided [RCV001636686]|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]|PCNT-related disorder [RCV003975161]|not provided [RCV001535234]|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]|PCNT-related disorder [RCV003415978]|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]|PCNT-related disorder [RCV003982905]|not provided [RCV001675634]|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]|PCNT-related disorder [RCV003398791]|not provided [RCV001849990] 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]|PCNT-related disorder [RCV003975162]|not provided [RCV001711589]|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]|PCNT-related disorder [RCV004739473]|not provided [RCV003718123] Chr21:46436019..46436020 [GRCh38]
Chr21:47855932..47855933 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_006031.6(PCNT):c.8873G>A (p.Arg2958His) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147230]|PCNT-related disorder [RCV003927440] Chr21:46436025 [GRCh38]
Chr21:47855938 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=) single nucleotide variant PCNT-related disorder [RCV003935251]|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]|PCNT-related disorder [RCV003975163]|not provided [RCV002055916]|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]|not provided [RCV003556191] 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]|PCNT-related disorder [RCV004739474]|not provided [RCV002225452] Chr21:46436111 [GRCh38]
Chr21:47856024 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.8996+45C>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001788045]|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 provided [RCV002055917]|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 provided [RCV001618300]|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]|PCNT-related disorder [RCV003415979]|not provided [RCV005089713] Chr21:46441045 [GRCh38]
Chr21:47860958 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9623+8C>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003611497]|PCNT-related disorder [RCV003965108]|not provided [RCV002055918]|not specified [RCV000147247] Chr21:46441092 [GRCh38]
Chr21:47861005 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_006031.6(PCNT):c.9698C>G (p.Pro3233Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000147248]|not provided [RCV001849991] 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]|PCNT-related disorder [RCV003415980] 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 provided [RCV001711590]|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]|PCNT-related disorder [RCV003935252]|not provided [RCV001849992] Chr21:46445281 [GRCh38]
Chr21:47865194 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.5727_5736del (p.Leu1910fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV000147153]|PCNT-related disorder [RCV004739471]|not provided [RCV002512584] Chr21:46411794..46411803 [GRCh38]
Chr21:47831708..47831717 [GRCh37]
Chr21:21q22.3		 pathogenic|likely 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 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 Microcephalic osteodysplastic primordial dwarfism type II [RCV003133161]|PCNT-related disorder [RCV003907566]|not provided [RCV000175319] Chr21:46388826 [GRCh38]
Chr21:47808741 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|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]|PCNT-related disorder [RCV003422045]|not provided [RCV000723778]|not specified [RCV000153657] Chr21:46431865 [GRCh38]
Chr21:47851779 [GRCh37]
Chr21:21q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.4109G>A (p.Arg1370Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000765508]|PCNT-related disorder [RCV003416079]|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]|PCNT-related disorder [RCV003937590]|not provided [RCV000176083] Chr21:46390714 [GRCh38]
Chr21:47810629 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.442_519del (p.Val148_Thr173del) deletion PCNT-related disorder [RCV004739576]|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 provided [RCV002517117]|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 provided [RCV003765231]|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 Microcephalic osteodysplastic primordial dwarfism type II [RCV001287841]|PCNT-related disorder [RCV004739577]|not provided [RCV003430747]|not specified [RCV000192626] Chr21:46422049 [GRCh38]
Chr21:47841963 [GRCh37]
Chr21:21q22.3		 likely benign|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 Inborn genetic diseases [RCV002517114]|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 PCNT-related disorder [RCV003937709]|not provided [RCV001697234]|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 Inborn genetic diseases [RCV004020335]|PCNT-related disorder [RCV003955166]|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 PCNT-related disorder [RCV003977521]|not specified [RCV000193051] Chr21:46388848 [GRCh38]
Chr21:47808763 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.321G>T (p.Lys107Asn) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000764269]|PCNT-related disorder [RCV003895251]|not provided [RCV001853099]|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]|PCNT-related disorder [RCV003977523]|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 Microcephalic osteodysplastic primordial dwarfism type II [RCV002492880]|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 PCNT-related disorder [RCV003390930]|not provided [RCV002517115]|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 Inborn genetic diseases [RCV002517964]|Microcephalic osteodysplastic primordial dwarfism type II [RCV001140497]|PCNT-related disorder [RCV003390929]|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]|PCNT-related disorder [RCV003917765]|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 provided [RCV002472966]|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]|PCNT-related disorder [RCV003401056]|not provided [RCV002517116]|not specified [RCV000193460] Chr21:46425910 [GRCh38]
Chr21:47845824 [GRCh37]
Chr21:21q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.8284C>T (p.Arg2762Trp) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001141254]|not provided [RCV001853101]|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 provided [RCV002054274]|not specified [RCV000193729] Chr21:46391385 [GRCh38]
Chr21:47811300 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.6141C>T (p.Asp2047=) single nucleotide variant not provided [RCV003114348]|not specified [RCV000193798] Chr21:46412983 [GRCh38]
Chr21:47832897 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_006031.6(PCNT):c.2865C>T (p.Ala955=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000299581]|PCNT-related disorder [RCV003937705]|not provided [RCV002057008]|not specified [RCV000194058] Chr21:46366839 [GRCh38]
Chr21:47786754 [GRCh37]
Chr21:21q22.3		 benign|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 PCNT-related disorder [RCV003895250]|not provided [RCV003736631]|not specified [RCV000194139] Chr21:46357199 [GRCh38]
Chr21:47777114 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.4351C>T (p.Arg1451Cys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001142469]|not provided [RCV002517113]|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 Microcephalic osteodysplastic primordial dwarfism type II [RCV003444218]|PCNT-related disorder [RCV003955167]|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]|PCNT-related disorder [RCV003927802]|not provided [RCV002517966]|not specified [RCV000194333] Chr21:46427633 [GRCh38]
Chr21:47847547 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.3403C>A (p.Arg1135=) single nucleotide variant PCNT-related disorder [RCV003917764]|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]|PCNT-related disorder [RCV003977524]|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 PCNT-related disorder [RCV003927665]|not provided [RCV000178537] Chr21:46441055 [GRCh38]
Chr21:47860968 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001002082]|PCNT-related disorder [RCV003977465]|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 PCNT-related disorder [RCV003401055]|not provided [RCV003765232]|not specified [RCV000194472] Chr21:46416569 [GRCh38]
Chr21:47836483 [GRCh37]
Chr21:21q22.3		 likely benign|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]|PCNT-related disorder [RCV003955168]|not provided [RCV001573607]|not specified [RCV000194633] Chr21:46427760 [GRCh38]
Chr21:47847674 [GRCh37]
Chr21:21q22.3		 benign|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 Microcephalic osteodysplastic primordial dwarfism type II [RCV002485173]|PCNT-related disorder [RCV003407661]|not provided [RCV000178912]|not specified [RCV001818440] 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 provided [RCV001853100]|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 provided [RCV002517965]|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]|PCNT-related disorder [RCV003937708]|not provided [RCV002054275]|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 PCNT-related disorder [RCV003927803]|not provided [RCV002517967]|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 Microcephalic osteodysplastic primordial dwarfism type II [RCV005031727]|PCNT-related disorder [RCV003937706]|not provided [RCV002517112]|not specified [RCV000195262] Chr21:46366840 [GRCh38]
Chr21:47786755 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.7136C>T (p.Pro2379Leu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000765513]|PCNT-related disorder [RCV003416091]|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		 conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.8947C>T (p.Leu2983Phe) single nucleotide variant PCNT-related disorder [RCV004739563]|See cases [RCV002252022]|not provided [RCV000178007] Chr21:46436099 [GRCh38]
Chr21:47856012 [GRCh37]
Chr21:21q22.3		 likely benign|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		 conflicting interpretations of pathogenicity|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]|PCNT-related disorder [RCV003977522]|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 provided [RCV005055700]|not specified [RCV000193532] Chr21:46349700 [GRCh38]
Chr21:47769614 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.4938_4939del (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]|PCNT-related disorder [RCV003947834]|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]|PCNT-related disorder [RCV003939986]|not provided [RCV000294631] Chr21:46366576 [GRCh38]
Chr21:47786491 [GRCh37]
Chr21:21q22.3		 likely benign|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]|Microcephalic osteodysplastic primordial dwarfism type II [RCV003237344] Chr21:46366702 [GRCh38]
Chr21:47786617 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3594_3598dup (p.Leu1200fs) duplication Inborn genetic diseases [RCV000210709]|Microcephalic osteodysplastic primordial dwarfism type II [RCV002500682]|not provided [RCV003556271] 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]|PCNT-related disorder [RCV004739700] Chr21:46399780 [GRCh38]
Chr21:47819694 [GRCh37]
Chr21:21q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.5554A>G (p.Met1852Val) single nucleotide variant Inborn genetic diseases [RCV002523201]|Microcephalic osteodysplastic primordial dwarfism type II [RCV000305534]|PCNT-related disorder [RCV003912435]|not provided [RCV002057787] Chr21:46411627 [GRCh38]
Chr21:47831541 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.5826G>A (p.Arg1942=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000271861]|not provided [RCV001653652]|not specified [RCV000503644] Chr21:46411899 [GRCh38]
Chr21:47831813 [GRCh37]
Chr21:21q22.3		 benign|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 [RCV001821028] 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]|PCNT-related disorder [RCV003910334]|not provided [RCV002523202] 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]|not provided [RCV001861190] Chr21:46401712 [GRCh38]
Chr21:47821626 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.445A>G (p.Ser149Gly) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000308289]|PCNT-related disorder [RCV004739697]|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]|PCNT-related disorder [RCV003972436]|not provided [RCV000958144] Chr21:46355474 [GRCh38]
Chr21:47775389 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_006031.6(PCNT):c.5648G>A (p.Arg1883Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000356797]|not provided [RCV005051774] Chr21:46411721 [GRCh38]
Chr21:47831635 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.247G>C (p.Gly83Arg) single nucleotide variant PCNT-related disorder [RCV003401239]|not provided [RCV000304348] Chr21:46326569 [GRCh38]
Chr21:47746483 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.5(PCNT):c.-100dup 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]|PCNT-related disorder [RCV004739701] 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]|PCNT-related disorder [RCV003418066] 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]|PCNT-related disorder [RCV003932367]|not provided [RCV002057782]|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]|See cases [RCV002287406]|not provided [RCV002057793] Chr21:46437095 [GRCh38]
Chr21:47857008 [GRCh37]
Chr21:21q22.3		 likely benign|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]|PCNT-related disorder [RCV003910332]|not provided [RCV001770274] Chr21:46411655 [GRCh38]
Chr21:47831569 [GRCh37]
Chr21:21q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.6983C>T (p.Pro2328Leu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000358048]|PCNT-related disorder [RCV003409545]|not provided [RCV002523203] 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]|PCNT-related disorder [RCV004739703] Chr21:46422006 [GRCh38]
Chr21:47841920 [GRCh37]
Chr21:21q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.3395G>A (p.Arg1132Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000274175]|PCNT-related disorder [RCV003392212]|not provided [RCV001861189] 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]|PCNT-related disorder [RCV004739699] 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]|not provided [RCV002523198] Chr21:46399610 [GRCh38]
Chr21:47819524 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1593G>A (p.Glu531=) single nucleotide variant PCNT-related disorder [RCV003967773]|not provided [RCV000340832] Chr21:46353240 [GRCh38]
Chr21:47773154 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|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]|PCNT-related disorder [RCV003983023]|not provided [RCV001718721] Chr21:46444803 [GRCh38]
Chr21:47864716 [GRCh37]
Chr21:21q22.3		 benign|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		 conflicting interpretations of pathogenicity|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		 conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.721-7G>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000372635]|not provided [RCV003765969] Chr21:46346736 [GRCh38]
Chr21:47766650 [GRCh37]
Chr21:21q22.3		 likely benign|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]|PCNT-related disorder [RCV003401362]|not provided [RCV002520039] 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 provided [RCV003736734]|not specified [RCV000419416] Chr21:46440100 [GRCh38]
Chr21:47860013 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_006031.6(PCNT):c.5741C>T (p.Ala1914Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000369884]|PCNT-related disorder [RCV003392213] Chr21:46411814 [GRCh38]
Chr21:47831728 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6648C>T (p.Val2216=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000280024]|not provided [RCV002057790] Chr21:46416566 [GRCh38]
Chr21:47836480 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.7118G>A (p.Gly2373Glu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000319449]|PCNT-related disorder [RCV003912436]|not provided [RCV002057791]|not specified [RCV000504151] Chr21:46422063 [GRCh38]
Chr21:47841977 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_006031.6(PCNT):c.4838C>T (p.Ala1613Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000321091]|PCNT-related disorder [RCV003932369]|not provided [RCV002057786]|not specified [RCV000504309] Chr21:46401597 [GRCh38]
Chr21:47821511 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.9278C>G (p.Ser3093Trp) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000373114]|PCNT-related disorder [RCV003409546]|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]|not provided [RCV005090543] Chr21:46440993 [GRCh38]
Chr21:47860906 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9535dup (p.Val3179fs) duplication Microcephalic osteodysplastic primordial dwarfism type II [RCV001782766]|not provided [RCV000319424] Chr21:46440991..46440992 [GRCh38]
Chr21:47860904..47860905 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_006031.6(PCNT):c.5563C>A (p.Arg1855=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140067]|PCNT-related disorder [RCV003930071]|not provided [RCV000384267] Chr21:46411636 [GRCh38]
Chr21:47831550 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|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]|PCNT-related disorder [RCV003969983]|not provided [RCV002057783] Chr21:46389307 [GRCh38]
Chr21:47809222 [GRCh37]
Chr21:21q22.3		 likely benign|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]|not provided [RCV002057785] Chr21:46398264 [GRCh38]
Chr21:47818178 [GRCh37]
Chr21:21q22.3		 benign|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]|not provided [RCV001861188] 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]|PCNT-related disorder [RCV003897773]|not provided [RCV001705509] 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 PCNT-related disorder [RCV003897608]|not provided [RCV000283964] Chr21:46324252 [GRCh38]
Chr21:47744166 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.5074G>A (p.Val1692Ile) single nucleotide variant Inborn genetic diseases [RCV002518915]|PCNT-related disorder [RCV004739656]|not provided [RCV001855138]|not specified [RCV000387752] Chr21:46402442 [GRCh38]
Chr21:47822356 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
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]|PCNT-related disorder [RCV004739705]|not provided [RCV002523204] 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]|PCNT-related disorder [RCV003922495]|not provided [RCV000972195]|not specified [RCV000606084] Chr21:46431636 [GRCh38]
Chr21:47851550 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_006031.6(PCNT):c.1107T>C (p.His369=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000383903]|PCNT-related disorder [RCV003932366]|not provided [RCV001718720] 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]|PCNT-related disorder [RCV003910001]|not provided [RCV000726003]|not specified [RCV000286792] Chr21:46411928 [GRCh38]
Chr21:47831842 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.9217G>A (p.Val3073Met) single nucleotide variant PCNT-related disorder [RCV004739652]|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]|PCNT-related disorder [RCV003897772]|not provided [RCV003114500] Chr21:46349134 [GRCh38]
Chr21:47769048 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.2247A>C (p.Glu749Asp) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000333587]|PCNT-related disorder [RCV003392211]|not provided [RCV001861187]|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]|PCNT-related disorder [RCV003401361]|not provided [RCV002057788]|not specified [RCV000502501] Chr21:46411865 [GRCh38]
Chr21:47831779 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.1084C>T (p.Arg362Cys) single nucleotide variant PCNT-related disorder [RCV003417885]|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 PCNT-related disorder [RCV003949906]|not provided [RCV000726079]|not specified [RCV002282107] 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]|PCNT-related disorder [RCV003950182]|not provided [RCV001861192] Chr21:46430236 [GRCh38]
Chr21:47850150 [GRCh37]
Chr21:21q22.3		 likely benign|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]|PCNT-related disorder [RCV003418064]|not provided [RCV001861186] 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]|PCNT-related disorder [RCV003922493]|not provided [RCV002523199] Chr21:46402395 [GRCh38]
Chr21:47822309 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|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]|PCNT-related disorder [RCV003932368]|not provided [RCV001590994] 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]|not provided [RCV004694644] 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]|not provided [RCV003765972] Chr21:46416386 [GRCh38]
Chr21:47836300 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.8399G>A (p.Arg2800Gln) single nucleotide variant Inborn genetic diseases [RCV002523205]|Microcephalic osteodysplastic primordial dwarfism type II [RCV000383917]|PCNT-related disorder [RCV003932370]|not provided [RCV002057792] Chr21:46431863 [GRCh38]
Chr21:47851777 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.5477G>C (p.Gly1826Ala) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000394210]|PCNT-related disorder [RCV003950181]|not provided [RCV002523200]|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]|not provided [RCV003765974] Chr21:46430621 [GRCh38]
Chr21:47850535 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.5707C>T (p.Arg1903Cys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000259608]|PCNT-related disorder [RCV003922494]|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]|PCNT-related disorder [RCV003922492]|not provided [RCV002523196]|not specified [RCV001821026] Chr21:46346738 [GRCh38]
Chr21:47766652 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.5960A>T (p.Asp1987Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000342120]|PCNT-related disorder [RCV003910333]|not provided [RCV002057789] Chr21:46412033 [GRCh38]
Chr21:47831947 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.1479G>A (p.Ala493=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000342988]|PCNT-related disorder [RCV003957755]|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]|PCNT-related disorder [RCV003950180]|not provided [RCV003718212] Chr21:46349712 [GRCh38]
Chr21:47769626 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.4387C>A (p.Leu1463Met) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000401096]|not provided [RCV002057784] Chr21:46397435 [GRCh38]
Chr21:47817349 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu) single nucleotide variant Inborn genetic diseases [RCV002521920]|Microcephalic osteodysplastic primordial dwarfism type II [RCV000765511]|PCNT-related disorder [RCV004725141]|not provided [RCV000328923] Chr21:46412048 [GRCh38]
Chr21:47831962 [GRCh37]
Chr21:21q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.2108A>T (p.Tyr703Phe) single nucleotide variant PCNT-related disorder [RCV003947894]|not provided [RCV000362627] Chr21:46357145 [GRCh38]
Chr21:47777060 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|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]|PCNT-related disorder [RCV004739704]|not provided [RCV003765973]|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]|PCNT-related disorder [RCV004739698]|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]|PCNT-related disorder [RCV003418065]|not provided [RCV001865243] 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 PCNT-related disorder [RCV003977799]|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 PCNT-related disorder [RCV003947835]|not provided [RCV000330704] Chr21:46346952 [GRCh38]
Chr21:47766866 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.7300C>A (p.Leu2434Ile) single nucleotide variant Inborn genetic diseases [RCV004021155]|not provided [RCV001855137]|not specified [RCV000330953] Chr21:46425951 [GRCh38]
Chr21:47845865 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.1281C>T (p.His427=) single nucleotide variant PCNT-related disorder [RCV003947833]|not provided [RCV000366032]|not specified [RCV001820807] Chr21:46349757 [GRCh38]
Chr21:47769671 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.6635G>A (p.Arg2212Gln) single nucleotide variant PCNT-related disorder [RCV003401235]|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]|not provided [RCV001865242] 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]|PCNT-related disorder [RCV003910331]|not provided [RCV002523197]|not specified [RCV001821027] Chr21:46351454 [GRCh38]
Chr21:47771368 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.6914C>T (p.Thr2305Met) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000306333]|PCNT-related disorder [RCV004739702]|not provided [RCV001861191] 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 PCNT-related disorder [RCV003897604]|not provided [RCV000300906] Chr21:46334596..46334597 [GRCh38]
Chr21:47754510..47754511 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.1246A>G (p.Ile416Val) single nucleotide variant PCNT-related disorder [RCV003910045]|not provided [RCV000726592]|not specified [RCV000336187] Chr21:46349722 [GRCh38]
Chr21:47769636 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.9700+10C>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001285412]|not provided [RCV002062101]|not specified [RCV000597485] Chr21:46442583 [GRCh38]
Chr21:47862496 [GRCh37]
Chr21:21q22.3		 benign|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.4108C>T (p.Arg1370Trp) single nucleotide variant PCNT-related disorder [RCV004741039]|not provided [RCV001573142] Chr21:46391268 [GRCh38]
Chr21:47811183 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.1963G>T (p.Val655Leu) single nucleotide variant PCNT-related disorder [RCV004740302]|not provided [RCV000522473] Chr21:46357000 [GRCh38]
Chr21:47776915 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1457-250C>A single nucleotide variant not provided [RCV001567140] Chr21:46352854 [GRCh38]
Chr21:47772768 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 copy number gain Down syndrome [RCV002284306] Chr21:14420615..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
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]|not provided [RCV003765971] Chr21:46413002 [GRCh38]
Chr21:47832916 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.3762G>A (p.Gln1254=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000319022]|not provided [RCV003765970] Chr21:46389353 [GRCh38]
Chr21:47809268 [GRCh37]
Chr21:21q22.3		 likely benign|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]|PCNT-related disorder [RCV003915710]|not provided [RCV000597273] Chr21:46399680 [GRCh38]
Chr21:47819594 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|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 PCNT-related disorder [RCV003917925]|not provided [RCV002529663]|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]|PCNT-related disorder [RCV003950183]|not provided [RCV000884347] Chr21:46435981..46435983 [GRCh38]
Chr21:47855894..47855896 [GRCh37]
Chr21:21q22.3		 benign|conflicting interpretations of pathogenicity|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 Inborn genetic diseases [RCV004659357]|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]|PCNT-related disorder [RCV003963075] 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		 conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.5636C>G (p.Ala1879Gly) single nucleotide variant PCNT-related disorder [RCV003409744]|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 PCNT-related disorder [RCV003403394]|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 PCNT-related disorder [RCV004740351]|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 Inborn genetic diseases [RCV003163301]|Microcephalic osteodysplastic primordial dwarfism type II [RCV001138675]|PCNT-related disorder [RCV003396764] Chr21:46430532 [GRCh38]
Chr21:47850446 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6644C>T (p.Pro2215Leu) single nucleotide variant Inborn genetic diseases [RCV004032324]|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 PCNT-related disorder [RCV004740431]|not provided [RCV000728392] Chr21:46401622 [GRCh38]
Chr21:47821536 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1679+314GT[3] microsatellite not provided [RCV001545317] Chr21:46353640..46353645 [GRCh38]
Chr21:47773554..47773559 [GRCh37]
Chr21:21q22.3		 likely benign
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
GRCh37/hg19 21q22.3(chr21:46955240-48080867)x1 copy number loss See cases [RCV000449447] Chr21:46955240..48080867 [GRCh37]
Chr21:21q22.3		 likely pathogenic|uncertain significance
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr) single nucleotide variant Global developmental delay [RCV000449519]|Microcephalic osteodysplastic primordial dwarfism type II [RCV000764270]|PCNT-related disorder [RCV003401441]|not provided [RCV001577090]|not specified [RCV000502541] Chr21:46346132 [GRCh38]
Chr21:47766046 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 21q22.3(chr21:43268694-48097372)x1 copy number loss See cases [RCV000446372] Chr21:43268694..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43598607-48097372)x1 copy number loss See cases [RCV000447618] Chr21:43598607..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.9352C>A (p.Pro3118Thr) single nucleotide variant not specified [RCV000427141] Chr21:46440161 [GRCh38]
Chr21:47860074 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1519C>G (p.Arg507Gly) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001139631]|PCNT-related disorder [RCV003983047]|not provided [RCV001726172]|not specified [RCV000437737] Chr21:46353166 [GRCh38]
Chr21:47773080 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3647C>T (p.Pro1216Leu) single nucleotide variant PCNT-related disorder [RCV003932613]|not provided [RCV004703953]|not specified [RCV000417771] Chr21:46389238 [GRCh38]
Chr21:47809153 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4142C>T (p.Ala1381Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001002088]|PCNT-related disorder [RCV003922769]|not provided [RCV000962764]|not specified [RCV000424009] Chr21:46391302 [GRCh38]
Chr21:47811217 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.7162C>T (p.Arg2388Cys) single nucleotide variant PCNT-related disorder [RCV004740222]|not provided [RCV001865366]|not specified [RCV000434820] Chr21:46422107 [GRCh38]
Chr21:47842021 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.9334C>T (p.Pro3112Ser) single nucleotide variant PCNT-related disorder [RCV003912748]|not specified [RCV000442036] Chr21:46440143 [GRCh38]
Chr21:47860056 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.9840-15G>C single nucleotide variant not provided [RCV002526326]|not specified [RCV000428126] Chr21:46444679 [GRCh38]
Chr21:47864592 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1761+14C>T single nucleotide variant not provided [RCV002059653]|not specified [RCV000428314] Chr21:46354082 [GRCh38]
Chr21:47773996 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6072C>T (p.Thr2024=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140184]|PCNT-related disorder [RCV003932637]|not provided [RCV000900401]|not specified [RCV000435508] Chr21:46412914 [GRCh38]
Chr21:47832828 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.5710G>A (p.Ala1904Thr) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140830]|not provided [RCV000906197] Chr21:46411783 [GRCh38]
Chr21:47831697 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.9163C>A (p.Leu3055Ile) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005027493]|PCNT-related disorder [RCV003418138]|not provided [RCV000767157]|not specified [RCV000435702] Chr21:46438227 [GRCh38]
Chr21:47858140 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7059G>A (p.Pro2353=) single nucleotide variant PCNT-related disorder [RCV003942357]|not provided [RCV003766233]|not specified [RCV000428984] Chr21:46422004 [GRCh38]
Chr21:47841918 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6645G>A (p.Pro2215=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138474]|not provided [RCV000889941] Chr21:46416563 [GRCh38]
Chr21:47836477 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.2458C>T (p.Arg820Cys) single nucleotide variant Inborn genetic diseases [RCV002525381]|PCNT-related disorder [RCV003418122]|not provided [RCV001697777] Chr21:46363783 [GRCh38]
Chr21:47783698 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.5253C>G (p.His1751Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005230327]|not provided [RCV000966679]|not specified [RCV001821160] Chr21:46411326 [GRCh38]
Chr21:47831240 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.3108C>T (p.Thr1036=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001142344]|not provided [RCV001703770] Chr21:46367082 [GRCh38]
Chr21:47786997 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_006031.6(PCNT):c.5803G>C (p.Val1935Leu) single nucleotide variant PCNT-related disorder [RCV003401429]|not provided [RCV002522431]|not specified [RCV000440304] Chr21:46411876 [GRCh38]
Chr21:47831790 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.3648G>A (p.Pro1216=) single nucleotide variant PCNT-related disorder [RCV003932636]|not provided [RCV001861560]|not specified [RCV000422739] Chr21:46389239 [GRCh38]
Chr21:47809154 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.7179+18G>A single nucleotide variant not provided [RCV002522558]|not specified [RCV000422811] Chr21:46422142 [GRCh38]
Chr21:47842056 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5323C>G (p.Leu1775Val) single nucleotide variant PCNT-related disorder [RCV004739730]|not specified [RCV000422919] Chr21:46411396 [GRCh38]
Chr21:47831310 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.7413G>A (p.Glu2471=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138578]|PCNT-related disorder [RCV003942401]|not provided [RCV002062800]|not specified [RCV000433272] Chr21:46427714 [GRCh38]
Chr21:47847628 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.5736C>T (p.Ala1912=) single nucleotide variant PCNT-related disorder [RCV003972642]|not provided [RCV002059605]|not specified [RCV000433394] Chr21:46411809 [GRCh38]
Chr21:47831723 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7914-5C>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138250]|not provided [RCV000958148] Chr21:46430502 [GRCh38]
Chr21:47850416 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.3924G>A (p.Lys1308=) single nucleotide variant PCNT-related disorder [RCV004740219]|not provided [RCV003114559]|not specified [RCV000423109] Chr21:46390753 [GRCh38]
Chr21:47810668 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3553G>A (p.Glu1185Lys) single nucleotide variant not specified [RCV000423125] Chr21:46388830 [GRCh38]
Chr21:47808745 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7398G>A (p.Glu2466=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138577]|not provided [RCV000958147] Chr21:46427699 [GRCh38]
Chr21:47847613 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.3798C>T (p.Ala1266=) single nucleotide variant not provided [RCV003766221]|not specified [RCV000420243] Chr21:46389389 [GRCh38]
Chr21:47809304 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8528T>G (p.Leu2843Arg) single nucleotide variant PCNT-related disorder [RCV003902608]|not specified [RCV000430433] Chr21:46431992 [GRCh38]
Chr21:47851906 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.2991T>C (p.Phe997=) single nucleotide variant not provided [RCV003660804]|not specified [RCV000430548] Chr21:46366965 [GRCh38]
Chr21:47786880 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1640G>A (p.Gly547Glu) single nucleotide variant not specified [RCV000433740] Chr21:46353287 [GRCh38]
Chr21:47773201 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8065-19G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001000564]|not provided [RCV002061458]|not specified [RCV000420411] Chr21:46431510 [GRCh38]
Chr21:47851424 [GRCh37]
Chr21:21q22.3		 benign|likely benign
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 copy number loss See cases [RCV000448694] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45773272-48097372)x1 copy number loss See cases [RCV000448877] Chr21:45773272..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1 copy number loss See cases [RCV000512071] Chr21:43498966..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.6366_6367del (p.Ser2123fs) microsatellite Microcephalic osteodysplastic primordial dwarfism type II [RCV003988846]|not provided [RCV000480431] Chr21:46416282..46416283 [GRCh38]
Chr21:47836196..47836197 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
NM_006031.6(PCNT):c.9051C>G (p.His3017Gln) single nucleotide variant not specified [RCV000500848] Chr21:46437033 [GRCh38]
Chr21:47856946 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2154+7C>T single nucleotide variant not provided [RCV003766840]|not specified [RCV000500869] Chr21:46357198 [GRCh38]
Chr21:47777113 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.1335A>G (p.Lys445=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001286940]|not provided [RCV003718250]|not specified [RCV000501046] Chr21:46349811 [GRCh38]
Chr21:47769725 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8622A>G (p.Glu2874=) single nucleotide variant not provided [RCV002056866]|not specified [RCV000501070] Chr21:46432086 [GRCh38]
Chr21:47852000 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9155A>G (p.Asn3052Ser) single nucleotide variant not provided [RCV001805118]|not specified [RCV000503243] Chr21:46438219 [GRCh38]
Chr21:47858132 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9393+8C>T single nucleotide variant PCNT-related disorder [RCV003935304]|not provided [RCV002524260]|not specified [RCV000503398] Chr21:46440210 [GRCh38]
Chr21:47860123 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.2628A>G (p.Lys876=) single nucleotide variant not provided [RCV002060136]|not specified [RCV000503370] Chr21:46366602 [GRCh38]
Chr21:47786517 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.6922-5_6922-4insCCTGA insertion not provided [RCV000498878] Chr21:46418198..46418199 [GRCh38]
Chr21:47838112..47838113 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4563+9G>A single nucleotide variant not specified [RCV000500960] Chr21:46398139 [GRCh38]
Chr21:47818053 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4518C>G (p.Leu1506=) single nucleotide variant not specified [RCV000500994] Chr21:46398085 [GRCh38]
Chr21:47817999 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8977A>G (p.Thr2993Ala) single nucleotide variant PCNT-related disorder [RCV003962394]|not provided [RCV003727748]|not specified [RCV000501188] Chr21:46436129 [GRCh38]
Chr21:47856042 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2155-21_2186del deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV000503423]|not provided [RCV002524266] Chr21:46363457..46363509 [GRCh38]
Chr21:47783372..47783424 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.9826C>T (p.His3276Tyr) single nucleotide variant PCNT-related disorder [RCV004722838]|not provided [RCV002056867]|not specified [RCV000503347] Chr21:46443935 [GRCh38]
Chr21:47863848 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.3389G>A (p.Arg1130Gln) single nucleotide variant PCNT-related disorder [RCV004740277]|not specified [RCV000503342] Chr21:46385908 [GRCh38]
Chr21:47805823 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7282G>A (p.Glu2428Lys) single nucleotide variant Inborn genetic diseases [RCV002524262]|not provided [RCV002527279]|not specified [RCV000503501] Chr21:46425933 [GRCh38]
Chr21:47845847 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.3038C>T (p.Thr1013Ile) single nucleotide variant not specified [RCV000501156] Chr21:46367012 [GRCh38]
Chr21:47786927 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1754G>A (p.Arg585Gln) single nucleotide variant not specified [RCV000501383] Chr21:46354061 [GRCh38]
Chr21:47773975 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4552C>T (p.Arg1518Cys) single nucleotide variant not specified [RCV000501269] Chr21:46398119 [GRCh38]
Chr21:47818033 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7804G>T (p.Glu2602Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000501426] Chr21:46430123 [GRCh38]
Chr21:47850037 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.5482G>T (p.Glu1828Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000501456]|not provided [RCV003565426] Chr21:46411555 [GRCh38]
Chr21:47831469 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.1463A>G (p.His488Arg) single nucleotide variant PCNT-related disorder [RCV003419866]|not specified [RCV000501348] Chr21:46353110 [GRCh38]
Chr21:47773024 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5982C>G (p.Val1994=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140182]|PCNT-related disorder [RCV003942643]|not provided [RCV001584215]|not specified [RCV000501367] Chr21:46412055 [GRCh38]
Chr21:47831969 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.1975dup (p.Asp659fs) duplication Microcephalic osteodysplastic primordial dwarfism type II [RCV000501524] Chr21:46357008..46357009 [GRCh38]
Chr21:47776923..47776924 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.484A>G (p.Ser162Gly) single nucleotide variant not provided [RCV001857141]|not specified [RCV000503706] Chr21:46334613 [GRCh38]
Chr21:47754527 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7593G>A (p.Thr2531=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001141152]|not provided [RCV002056865]|not specified [RCV000503604] Chr21:46428493 [GRCh38]
Chr21:47848407 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.9331C>T (p.Arg3111Cys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005027582]|PCNT-related disorder [RCV003915388]|not provided [RCV003766841]|not specified [RCV000503761] Chr21:46440140 [GRCh38]
Chr21:47860053 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3061C>T (p.Arg1021Trp) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001002565]|PCNT-related disorder [RCV004740276]|not provided [RCV002524252]|not specified [RCV000501593] Chr21:46367035 [GRCh38]
Chr21:47786950 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2545G>A (p.Gly849Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001137511]|PCNT-related disorder [RCV003392331]|not provided [RCV005091110]|not specified [RCV000501622] Chr21:46363870 [GRCh38]
Chr21:47783785 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9304G>A (p.Glu3102Lys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001136631]|PCNT-related disorder [RCV004740281]|not provided [RCV001865617]|not specified [RCV000501632] Chr21:46440113 [GRCh38]
Chr21:47860026 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8128C>T (p.His2710Tyr) single nucleotide variant not specified [RCV000503856] Chr21:46431592 [GRCh38]
Chr21:47851506 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6093G>A (p.Gln2031=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140186]|PCNT-related disorder [RCV003925483]|not provided [RCV000840240]|not specified [RCV000503768] Chr21:46412935 [GRCh38]
Chr21:47832849 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.1825G>C (p.Glu609Gln) single nucleotide variant not specified [RCV000503800] Chr21:46355515 [GRCh38]
Chr21:47775430 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8956G>A (p.Ala2986Thr) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001286076]|PCNT-related disorder [RCV004740280]|not provided [RCV001857145]|not specified [RCV000503956] Chr21:46436108 [GRCh38]
Chr21:47856021 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7354G>T (p.Asp2452Tyr) single nucleotide variant not specified [RCV000501693] Chr21:46427655 [GRCh38]
Chr21:47847569 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7541G>A (p.Arg2514Gln) single nucleotide variant PCNT-related disorder [RCV003979895]|not provided [RCV001857149]|not specified [RCV000501715] Chr21:46428441 [GRCh38]
Chr21:47848355 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6348C>T (p.Asp2116=) single nucleotide variant PCNT-related disorder [RCV003979894]|not provided [RCV001549480]|not specified [RCV000504054] Chr21:46416266 [GRCh38]
Chr21:47836180 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4078C>T (p.Arg1360Cys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000765507]|PCNT-related disorder [RCV003902786]|not provided [RCV002524253]|not specified [RCV000504109] Chr21:46391238 [GRCh38]
Chr21:47811153 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.5756T>C (p.Leu1919Pro) single nucleotide variant not specified [RCV000499434] Chr21:46411829 [GRCh38]
Chr21:47831743 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.16G>C (p.Glu6Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001143842]|PCNT-related disorder [RCV004740283]|not provided [RCV001311586]|not specified [RCV000499450] Chr21:46324244 [GRCh38]
Chr21:47744158 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8930C>T (p.Ala2977Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138776]|PCNT-related disorder [RCV003960177]|not provided [RCV002060138]|not specified [RCV000499390] Chr21:46436082 [GRCh38]
Chr21:47855995 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.5606C>T (p.Thr1869Met) single nucleotide variant not provided [RCV002524255]|not specified [RCV000501754] Chr21:46411679 [GRCh38]
Chr21:47831593 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5815C>T (p.Arg1939Trp) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001142677]|not provided [RCV001550672]|not specified [RCV000501888] Chr21:46411888 [GRCh38]
Chr21:47831802 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.7644C>T (p.Ser2548=) single nucleotide variant not provided [RCV002524258]|not specified [RCV000501971] Chr21:46428544 [GRCh38]
Chr21:47848458 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8951C>G (p.Ser2984Cys) single nucleotide variant PCNT-related disorder [RCV004740285]|not provided [RCV001857151]|not specified [RCV000501980] Chr21:46436103 [GRCh38]
Chr21:47856016 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6578C>T (p.Pro2193Leu) single nucleotide variant PCNT-related disorder [RCV003419868]|not specified [RCV000504187] Chr21:46416496 [GRCh38]
Chr21:47836410 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.6276C>T (p.Ala2092=) single nucleotide variant PCNT-related disorder [RCV004740282]|not provided [RCV002524263]|not specified [RCV000504236] Chr21:46416194 [GRCh38]
Chr21:47836108 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.724G>A (p.Val242Met) single nucleotide variant PCNT-related disorder [RCV003925482]|not provided [RCV000879940]|not specified [RCV000504301] Chr21:46346746 [GRCh38]
Chr21:47766660 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1457-9dup duplication Microcephalic osteodysplastic primordial dwarfism type II [RCV005356021]|not provided [RCV003766834]|not specified [RCV000499379] Chr21:46353094..46353095 [GRCh38]
Chr21:47773008..47773009 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.5583G>A (p.Ala1861=) single nucleotide variant not provided [RCV003727746]|not specified [RCV000499464] Chr21:46411656 [GRCh38]
Chr21:47831570 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1680-2A>G single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000499620] Chr21:46353985 [GRCh38]
Chr21:47773899 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3564G>T (p.Gly1188=) single nucleotide variant not specified [RCV000499506] Chr21:46388841 [GRCh38]
Chr21:47808756 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7634C>T (p.Ala2545Val) single nucleotide variant not provided [RCV001857144]|not specified [RCV000499526] Chr21:46428534 [GRCh38]
Chr21:47848448 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4311G>T (p.Lys1437Asn) single nucleotide variant not specified [RCV000504318] Chr21:46397359 [GRCh38]
Chr21:47817273 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3443T>C (p.Val1148Ala) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000765506]|PCNT-related disorder [RCV003962395]|not provided [RCV001755747]|not specified [RCV000504217] Chr21:46385962 [GRCh38]
Chr21:47805877 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8569C>T (p.Leu2857=) single nucleotide variant PCNT-related disorder [RCV003942644]|not provided [RCV002524259]|not specified [RCV000504440] Chr21:46432033 [GRCh38]
Chr21:47851947 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2019G>A (p.Leu673=) single nucleotide variant not specified [RCV000499704] Chr21:46357056 [GRCh38]
Chr21:47776971 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9035T>C (p.Val3012Ala) single nucleotide variant not specified [RCV000499712] Chr21:46437017 [GRCh38]
Chr21:47856930 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2264T>G (p.Met755Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001137508]|PCNT-related disorder [RCV003962393]|not provided [RCV002060135]|not specified [RCV000499831] Chr21:46363589 [GRCh38]
Chr21:47783504 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1220A>T (p.Asn407Ile) single nucleotide variant Inborn genetic diseases [RCV002524251]|PCNT-related disorder [RCV003962392]|not provided [RCV002524250]|not specified [RCV000502044] Chr21:46349696 [GRCh38]
Chr21:47769610 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8115C>T (p.Cys2705=) single nucleotide variant PCNT-related disorder [RCV003935303]|not provided [RCV002060137]|not specified [RCV000502077] Chr21:46431579 [GRCh38]
Chr21:47851493 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5073T>C (p.Ala1691=) single nucleotide variant PCNT-related disorder [RCV003979893]|not provided [RCV003114627]|not specified [RCV000504504] Chr21:46402441 [GRCh38]
Chr21:47822355 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1489C>A (p.Arg497Ser) single nucleotide variant not specified [RCV000504517] Chr21:46353136 [GRCh38]
Chr21:47773050 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4356G>T (p.Gly1452=) single nucleotide variant not provided [RCV003766836]|not specified [RCV000504370] Chr21:46397404 [GRCh38]
Chr21:47817318 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7309G>C (p.Gly2437Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000765516]|PCNT-related disorder [RCV003419870]|not provided [RCV001857143]|not specified [RCV000499880] Chr21:46425960 [GRCh38]
Chr21:47845874 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7281C>T (p.Asp2427=) single nucleotide variant PCNT-related disorder [RCV003935302]|not provided [RCV000883106]|not specified [RCV000499774] Chr21:46425932 [GRCh38]
Chr21:47845846 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.7342G>A (p.Asp2448Asn) single nucleotide variant PCNT-related disorder [RCV003409703]|not specified [RCV000499899] Chr21:46427643 [GRCh38]
Chr21:47847557 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9409C>G (p.Leu3137Val) single nucleotide variant not specified [RCV000499960] Chr21:46440870 [GRCh38]
Chr21:47860783 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9866T>C (p.Leu3289Ser) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138888]|PCNT-related disorder [RCV003403170]|not specified [RCV000502138] Chr21:46444720 [GRCh38]
Chr21:47864633 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8786A>C (p.His2929Pro) single nucleotide variant not specified [RCV000502174] Chr21:46435938 [GRCh38]
Chr21:47855851 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6100C>T (p.Leu2034=) single nucleotide variant not specified [RCV000502301] Chr21:46412942 [GRCh38]
Chr21:47832856 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4163G>A (p.Arg1388His) single nucleotide variant PCNT-related disorder [RCV003935300]|not specified [RCV000500068] Chr21:46391323 [GRCh38]
Chr21:47811238 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5679C>T (p.Ala1893=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140827]|not provided [RCV003114628]|not specified [RCV000500078] Chr21:46411752 [GRCh38]
Chr21:47831666 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.3880G>T (p.Glu1294Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000500174]|not provided [RCV005091112] Chr21:46390709 [GRCh38]
Chr21:47810624 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.139G>C (p.Asp47His) single nucleotide variant Inborn genetic diseases [RCV004023394]|Microcephalic osteodysplastic primordial dwarfism type II [RCV002506228]|not provided [RCV002524249]|not specified [RCV000500184] Chr21:46326461 [GRCh38]
Chr21:47746375 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.138C>T (p.Val46=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001137276]|not provided [RCV003766839]|not specified [RCV000502359] Chr21:46326460 [GRCh38]
Chr21:47746374 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.6447G>A (p.Ala2149=) single nucleotide variant not provided [RCV003727747]|not specified [RCV000502422] Chr21:46416365 [GRCh38]
Chr21:47836279 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 copy number loss See cases [RCV000510684] Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
NM_006031.6(PCNT):c.8130C>T (p.His2710=) single nucleotide variant PCNT-related disorder [RCV003902787]|not provided [RCV003766838]|not specified [RCV000500294] Chr21:46431594 [GRCh38]
Chr21:47851508 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9715C>T (p.Gln3239Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000500360] Chr21:46443824 [GRCh38]
Chr21:47863737 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.591C>G (p.Ile197Met) single nucleotide variant PCNT-related disorder [RCV003392330]|not provided [RCV002527277]|not specified [RCV000500312] Chr21:46334720 [GRCh38]
Chr21:47754634 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7988G>A (p.Arg2663His) single nucleotide variant PCNT-related disorder [RCV003915387]|not provided [RCV001865616]|not specified [RCV000500340] Chr21:46430581 [GRCh38]
Chr21:47850495 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7304A>G (p.His2435Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000765515]|PCNT-related disorder [RCV003419869]|not specified [RCV000502657] Chr21:46425955 [GRCh38]
Chr21:47845869 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.442G>T (p.Val148Phe) single nucleotide variant not specified [RCV000502569] Chr21:46334571 [GRCh38]
Chr21:47754485 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4001A>C (p.Gln1334Pro) single nucleotide variant not specified [RCV000502582] Chr21:46390830 [GRCh38]
Chr21:47810745 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4230A>G (p.Glu1410=) single nucleotide variant not provided [RCV003766835]|not specified [RCV000502622] Chr21:46397278 [GRCh38]
Chr21:47817192 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4929G>C (p.Val1643=) single nucleotide variant not provided [RCV003766837]|not specified [RCV000502749] Chr21:46401688 [GRCh38]
Chr21:47821602 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.2899A>G (p.Ser967Gly) single nucleotide variant PCNT-related disorder [RCV003409700]|not provided [RCV001865615]|not specified [RCV000500460] Chr21:46366873 [GRCh38]
Chr21:47786788 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1849G>C (p.Glu617Gln) single nucleotide variant PCNT-related disorder [RCV003409702]|not specified [RCV000500388] Chr21:46355539 [GRCh38]
Chr21:47775454 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6096G>A (p.Ser2032=) single nucleotide variant PCNT-related disorder [RCV003935301]|not provided [RCV002524256]|not specified [RCV000500532] Chr21:46412938 [GRCh38]
Chr21:47832852 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3411C>G (p.Gly1137=) single nucleotide variant not specified [RCV000500588] Chr21:46385930 [GRCh38]
Chr21:47805845 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1380G>A (p.Lys460=) single nucleotide variant not specified [RCV000502810] Chr21:46351464 [GRCh38]
Chr21:47771378 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6195T>G (p.Asp2065Glu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000765512]|PCNT-related disorder [RCV003419871]|not provided [RCV001857148]|not specified [RCV000502681] Chr21:46416113 [GRCh38]
Chr21:47836027 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8564G>A (p.Arg2855Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001143093]|not provided [RCV001857150]|not specified [RCV000502797] Chr21:46432028 [GRCh38]
Chr21:47851942 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5115G>A (p.Lys1705=) single nucleotide variant PCNT-related disorder [RCV003419867]|not provided [RCV002524254]|not specified [RCV000502888] Chr21:46402483 [GRCh38]
Chr21:47822397 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2809A>C (p.Lys937Gln) single nucleotide variant PCNT-related disorder [RCV003942645]|not provided [RCV002524264]|not specified [RCV000502896] Chr21:46366783 [GRCh38]
Chr21:47786698 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6349G>A (p.Gly2117Arg) single nucleotide variant PCNT-related disorder [RCV003925484]|not specified [RCV000500668] Chr21:46416267 [GRCh38]
Chr21:47836181 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2834G>A (p.Arg945His) single nucleotide variant PCNT-related disorder [RCV004740284]|not provided [RCV001857146]|not specified [RCV000500685] Chr21:46366808 [GRCh38]
Chr21:47786723 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9852C>T (p.Ser3284=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138887]|PCNT-related disorder [RCV003935305]|not provided [RCV002524261]|not specified [RCV000500611] Chr21:46444706 [GRCh38]
Chr21:47864619 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.5680G>A (p.Val1894Ile) single nucleotide variant PCNT-related disorder [RCV003424063]|not provided [RCV001857142]|not specified [RCV000502860] Chr21:46411753 [GRCh38]
Chr21:47831667 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.8997G>A (p.Arg2999=) single nucleotide variant not specified [RCV000502973] Chr21:46436979 [GRCh38]
Chr21:47856892 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.469G>A (p.Gly157Arg) single nucleotide variant not provided [RCV002524265]|not specified [RCV000503013] Chr21:46334598 [GRCh38]
Chr21:47754512 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9871A>G (p.Arg3291Gly) single nucleotide variant PCNT-related disorder [RCV003409701]|not provided [RCV005091111]|not specified [RCV000503053] Chr21:46444725 [GRCh38]
Chr21:47864638 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5992C>T (p.Gln1998Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000500903]|PCNT-related disorder [RCV003942646]|not provided [RCV001857147] Chr21:46412065 [GRCh38]
Chr21:47831979 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_006031.6(PCNT):c.7198C>T (p.Arg2400Cys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000765514]|PCNT-related disorder [RCV004740279]|not provided [RCV002524257]|not specified [RCV000503181] Chr21:46425849 [GRCh38]
Chr21:47845763 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1743C>T (p.Leu581=) single nucleotide variant PCNT-related disorder [RCV004740275]|not provided [RCV003727745]|not specified [RCV000503108] Chr21:46354050 [GRCh38]
Chr21:47773964 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.4835T>C (p.Leu1612Pro) single nucleotide variant not specified [RCV000503191] Chr21:46401594 [GRCh38]
Chr21:47821508 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6888G>A (p.Pro2296=) single nucleotide variant PCNT-related disorder [RCV004740278]|not provided [RCV003736796]|not specified [RCV000503218] Chr21:46416806 [GRCh38]
Chr21:47836720 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.934C>T (p.Arg312Trp) single nucleotide variant Inborn genetic diseases [RCV002524030]|Microcephalic osteodysplastic primordial dwarfism type II [RCV002475975]|PCNT-related disorder [RCV003419829]|not provided [RCV000493816] Chr21:46346956 [GRCh38]
Chr21:47766870 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 copy number loss See cases [RCV000511808] Chr21:41254101..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_006031.6(PCNT):c.398del (p.Phe133fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV001261590]|not provided [RCV000493188] Chr21:46334526 [GRCh38]
Chr21:47754440 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
NM_006031.6(PCNT):c.5395A>T (p.Lys1799Ter) single nucleotide variant not provided [RCV000578795] Chr21:46411468 [GRCh38]
Chr21:47831382 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_006031.6(PCNT):c.2581G>A (p.Ala861Thr) single nucleotide variant Inborn genetic diseases [RCV003290400] Chr21:46363906 [GRCh38]
Chr21:47783821 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7495-13A>G single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001141149]|not provided [RCV002064307]|not specified [RCV000601699] Chr21:46428382 [GRCh38]
Chr21:47848296 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.3532A>G (p.Thr1178Ala) single nucleotide variant not provided [RCV000596095] Chr21:46388809 [GRCh38]
Chr21:47808724 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1948G>A (p.Val650Met) single nucleotide variant Inborn genetic diseases [RCV003295272] Chr21:46356985 [GRCh38]
Chr21:47776900 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4117C>T (p.Gln1373Ter) single nucleotide variant not provided [RCV000585470] Chr21:46391277 [GRCh38]
Chr21:47811192 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.202G>C (p.Asp68His) single nucleotide variant not specified [RCV000606023] Chr21:46326524 [GRCh38]
Chr21:47746438 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6779T>C (p.Leu2260Pro) single nucleotide variant Inborn genetic diseases [RCV003265180] Chr21:46416697 [GRCh38]
Chr21:47836611 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4702G>T (p.Glu1568Ter) single nucleotide variant Inborn genetic diseases [RCV000624297] Chr21:46399707 [GRCh38]
Chr21:47819621 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.7145T>C (p.Met2382Thr) single nucleotide variant Inborn genetic diseases [RCV003273150] Chr21:46422090 [GRCh38]
Chr21:47842004 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5377G>A (p.Glu1793Lys) single nucleotide variant Inborn genetic diseases [RCV003307191]|PCNT-related disorder [RCV004741482] Chr21:46411450 [GRCh38]
Chr21:47831364 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.688C>T (p.Arg230Cys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001142128]|PCNT-related disorder [RCV003403422]|not provided [RCV000730683]|not specified [RCV000609461] Chr21:46346176 [GRCh38]
Chr21:47766090 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.9967+18C>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003611525]|not provided [RCV002063265]|not specified [RCV000615059] Chr21:46444839 [GRCh38]
Chr21:47864752 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.3427A>G (p.Met1143Val) single nucleotide variant Inborn genetic diseases [RCV003249172]|PCNT-related disorder [RCV004741477] Chr21:46385946 [GRCh38]
Chr21:47805861 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.721-13T>G single nucleotide variant not provided [RCV003767669]|not specified [RCV000609756] Chr21:46346730 [GRCh38]
Chr21:47766644 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.49A>G (p.Thr17Ala) single nucleotide variant not specified [RCV000615311] Chr21:46324277 [GRCh38]
Chr21:47744191 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.406G>A (p.Gly136Ser) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000609273]|PCNT-related disorder [RCV004740372]|not provided [RCV001591376] Chr21:46334535 [GRCh38]
Chr21:47754449 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.5994+4G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140183]|not provided [RCV001697914]|not specified [RCV001821743] Chr21:46412071 [GRCh38]
Chr21:47831985 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.8365G>A (p.Ala2789Thr) single nucleotide variant not specified [RCV000615575] Chr21:46431829 [GRCh38]
Chr21:47851743 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5614G>A (p.Glu1872Lys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001285409]|PCNT-related disorder [RCV003980117]|not provided [RCV002065181]|not specified [RCV000596562] Chr21:46411687 [GRCh38]
Chr21:47831601 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.5607G>A (p.Thr1869=) single nucleotide variant PCNT-related disorder [RCV003927997]|not specified [RCV000610526] Chr21:46411680 [GRCh38]
Chr21:47831594 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.363A>C (p.Thr121=) single nucleotide variant PCNT-related disorder [RCV003927972]|not provided [RCV002531186]|not specified [RCV000613528] Chr21:46334492 [GRCh38]
Chr21:47754406 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1885_1886delinsAA (p.Ser629Lys) indel not specified [RCV000613618] Chr21:46355575..46355576 [GRCh38]
Chr21:47775490..47775491 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3457A>G (p.Ser1153Gly) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001285407]|PCNT-related disorder [RCV003980115]|not provided [RCV001867993]|not specified [RCV000595063] Chr21:46385976 [GRCh38]
Chr21:47805891 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9247C>T (p.His3083Tyr) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001285411]|PCNT-related disorder [RCV003980116]|not provided [RCV001567803]|not specified [RCV000595466] Chr21:46438311 [GRCh38]
Chr21:47858224 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5872C>G (p.His1958Asp) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001285408]|PCNT-related disorder [RCV003980118]|not provided [RCV002062102]|not specified [RCV000595890] Chr21:46411945 [GRCh38]
Chr21:47831859 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4143G>A (p.Ala1381=) single nucleotide variant not provided [RCV003767652]|not specified [RCV000609328] Chr21:46391303 [GRCh38]
Chr21:47811218 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7126C>T (p.Gln2376Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000601510] Chr21:46422071 [GRCh38]
Chr21:47841985 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.9706C>T (p.Arg3236Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003147495]|PCNT-related disorder [RCV003392344]|not provided [RCV000512819] Chr21:46443815 [GRCh38]
Chr21:47863728 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_006031.6(PCNT):c.6162_6163del (p.Lys2054fs) deletion PCNT-related disorder [RCV003403200]|not provided [RCV000513142] Chr21:46416080..46416081 [GRCh38]
Chr21:47835994..47835995 [GRCh37]
Chr21:21q22.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.1507C>T (p.Gln503Ter) single nucleotide variant Inborn genetic diseases [RCV000623314] Chr21:46353154 [GRCh38]
Chr21:47773068 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.6991G>A (p.Gly2331Arg) single nucleotide variant PCNT-related disorder [RCV004740371]|not provided [RCV002531687]|not specified [RCV000606584] Chr21:46418273 [GRCh38]
Chr21:47838187 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.5188C>T (p.Arg1730Ter) single nucleotide variant PCNT-related disorder [RCV004738894]|not provided [RCV003825277] Chr21:46411261 [GRCh38]
Chr21:47831175 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_006031.6(PCNT):c.9759G>T (p.Arg3253=) single nucleotide variant PCNT-related disorder [RCV004738896]|not provided [RCV003825648] Chr21:46443868 [GRCh38]
Chr21:47863781 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1032+1G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000680060]|not provided [RCV003698810] Chr21:46347513 [GRCh38]
Chr21:47767427 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 copy number loss not provided [RCV000684165] Chr21:42335622..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:47678065-47886671)x1 copy number loss not provided [RCV000684138] Chr21:47678065..47886671 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:47563979-48004323)x3 copy number gain not provided [RCV000684146] Chr21:47563979..48004323 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1 copy number loss not provided [RCV000684163] Chr21:43687353..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3418CTC[1] (p.Leu1141del) microsatellite Microcephalic osteodysplastic primordial dwarfism type II [RCV000714813] Chr21:46385936..46385938 [GRCh38]
Chr21:47805851..47805853 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5341G>A (p.Gly1781Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000709967]|PCNT-related disorder [RCV004740418]|not provided [RCV002532899] Chr21:46411414 [GRCh38]
Chr21:47831328 [GRCh37]
Chr21:21q22.3		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_006031.6(PCNT):c.6150+34G>C single nucleotide variant not provided [RCV001574601] Chr21:46413026 [GRCh38]
Chr21:47832940 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.429_430insTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCA (p.Gly144delinsTrpAspValHisSerGlnTer) insertion Microcephalic osteodysplastic primordial dwarfism type II [RCV001001729] Chr21:46334558..46334559 [GRCh38]
Chr21:47754472..47754473 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.2610-297G>T single nucleotide variant not provided [RCV001548231] Chr21:46366287 [GRCh38]
Chr21:47786202 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4217-341G>T single nucleotide variant not provided [RCV001732660] Chr21:46396924 [GRCh38]
Chr21:47816838 [GRCh37]
Chr21:21q22.3		 likely benign
Single allele duplication Autism [RCV000754229] Chr21:43403441..46673937 [GRCh38]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:47494789-48117896)x3 copy number gain not provided [RCV000741649] Chr21:47494789..48117896 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:47695080-47851638)x3 copy number gain not provided [RCV000741670] Chr21:47695080..47851638 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47801930-47810736)x0 copy number loss not provided [RCV000741673] Chr21:47801930..47810736 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47801930-47811272)x0 copy number loss not provided [RCV000741674] Chr21:47801930..47811272 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47808772-47905496)x3 copy number gain not provided [RCV000741675] Chr21:47808772..47905496 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47818298-47851753)x3 copy number gain not provided [RCV000741676] Chr21:47818298..47851753 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47821583-47841941)x3 copy number gain not provided [RCV000741677] Chr21:47821583..47841941 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47821588-47860054)x3 copy number gain not provided [RCV000741678] Chr21:47821588..47860054 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47821619-47848503)x3 copy number gain not provided [RCV000741679] Chr21:47821619..47848503 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47822397-47848503)x3 copy number gain not provided [RCV000741680] Chr21:47822397..47848503 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47831217-47832881)x3 copy number gain not provided [RCV000741681] Chr21:47831217..47832881 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47848445-47856021)x1 copy number loss not provided [RCV000741682] Chr21:47848445..47856021 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:47848445-47858248)x1 copy number loss not provided [RCV000741683] Chr21:47848445..47858248 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
NM_006031.6(PCNT):c.3165+187dup duplication not provided [RCV001541443] Chr21:46367310..46367311 [GRCh38]
Chr21:47787225..47787226 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1456+111A>G single nucleotide variant not provided [RCV001541868] Chr21:46351651 [GRCh38]
Chr21:47771565 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.7180-83G>A single nucleotide variant not provided [RCV001667485] Chr21:46425748 [GRCh38]
Chr21:47845662 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.2178C>T (p.Asp726=) single nucleotide variant PCNT-related disorder [RCV003910643]|not provided [RCV000893776] Chr21:46363503 [GRCh38]
Chr21:47783418 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8064+84del deletion not provided [RCV001681523] Chr21:46430738 [GRCh38]
Chr21:47850652 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.7179+298C>T single nucleotide variant not provided [RCV001692954] Chr21:46422422 [GRCh38]
Chr21:47842336 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.4963-190dup duplication not provided [RCV001535202] Chr21:46402138..46402139 [GRCh38]
Chr21:47822052..47822053 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.4366C>T (p.Gln1456Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000761324] Chr21:46397414 [GRCh38]
Chr21:47817328 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.3264del (p.Glu1089fs) deletion not provided [RCV003239113] Chr21:46381790 [GRCh38]
Chr21:47801705 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.4792-215C>T single nucleotide variant not provided [RCV001649188] Chr21:46401336 [GRCh38]
Chr21:47821250 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.6298A>G (p.Met2100Val) single nucleotide variant not provided [RCV001581714] Chr21:46416216 [GRCh38]
Chr21:47836130 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4791+60A>G single nucleotide variant not provided [RCV001578195] Chr21:46399856 [GRCh38]
Chr21:47819770 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6921+98A>G single nucleotide variant not provided [RCV001681067] Chr21:46416937 [GRCh38]
Chr21:47836851 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:45866973-48097372)x1 copy number loss not provided [RCV001007146] Chr21:45866973..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4585-230T>G single nucleotide variant not provided [RCV001612475] Chr21:46399360 [GRCh38]
Chr21:47819274 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.7024+201T>C single nucleotide variant not provided [RCV001644463] Chr21:46418507 [GRCh38]
Chr21:47838421 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1032+7G>A single nucleotide variant not provided [RCV000904929] Chr21:46347519 [GRCh38]
Chr21:47767433 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7137G>T (p.Pro2379=) single nucleotide variant not provided [RCV000904943] Chr21:46422082 [GRCh38]
Chr21:47841996 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5424C>T (p.Asp1808=) single nucleotide variant not provided [RCV000900294] Chr21:46411497 [GRCh38]
Chr21:47831411 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1033-7A>T single nucleotide variant not provided [RCV000949443] Chr21:46349005 [GRCh38]
Chr21:47768919 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4585-3T>C single nucleotide variant PCNT-related disorder [RCV003940829]|not provided [RCV000899294]|not specified [RCV001818739] Chr21:46399587 [GRCh38]
Chr21:47819501 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.268-4T>C single nucleotide variant not provided [RCV000881063] Chr21:46334393 [GRCh38]
Chr21:47754307 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7993C>T (p.Leu2665=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138676]|PCNT-related disorder [RCV003910795]|not provided [RCV000903670] Chr21:46430586 [GRCh38]
Chr21:47850500 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.6125G>A (p.Arg2042His) single nucleotide variant Inborn genetic diseases [RCV002547190]|Microcephalic osteodysplastic primordial dwarfism type II [RCV001140187]|PCNT-related disorder [RCV003983294]|not provided [RCV000948108] Chr21:46412967 [GRCh38]
Chr21:47832881 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_006031.6(PCNT):c.8538G>A (p.Thr2846=) single nucleotide variant PCNT-related disorder [RCV003912912]|not provided [RCV000903828] Chr21:46432002 [GRCh38]
Chr21:47851916 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5587C>T (p.Leu1863=) single nucleotide variant not provided [RCV000882072] Chr21:46411660 [GRCh38]
Chr21:47831574 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1491T>G (p.Arg497=) single nucleotide variant PCNT-related disorder [RCV003975517]|not provided [RCV000880486] Chr21:46353138 [GRCh38]
Chr21:47773052 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4614A>G (p.Glu1538=) single nucleotide variant PCNT-related disorder [RCV003972926]|not provided [RCV000971708] Chr21:46399619 [GRCh38]
Chr21:47819533 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5370C>T (p.Gly1790=) single nucleotide variant PCNT-related disorder [RCV003396538]|not provided [RCV000902268] Chr21:46411443 [GRCh38]
Chr21:47831357 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.5059_5060del (p.Asn1687fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV001844423] Chr21:46402427..46402428 [GRCh38]
Chr21:47822341..47822342 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45490774-48097372)x1 copy number loss not provided [RCV001007145] Chr21:45490774..48097372 [GRCh37]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21q22.3(chr21:46749869-48097372)x1 copy number loss not provided [RCV001007150] Chr21:46749869..48097372 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.366_369del (p.Ser123fs) microsatellite Microcephalic osteodysplastic primordial dwarfism type II [RCV000779362] Chr21:46334491..46334494 [GRCh38]
Chr21:47754405..47754408 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6410dup (p.Val2138fs) duplication Microcephalic osteodysplastic primordial dwarfism type II [RCV000779363] Chr21:46416322..46416323 [GRCh38]
Chr21:47836236..47836237 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8818_8819del (p.Asp2940fs) microsatellite Microcephalic osteodysplastic primordial dwarfism type II [RCV000779364] Chr21:46435966..46435967 [GRCh38]
Chr21:47855879..47855880 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9195_9196insGA (p.Lys3066fs) insertion Microcephalic osteodysplastic primordial dwarfism type II [RCV000779365] Chr21:46438259..46438260 [GRCh38]
Chr21:47858172..47858173 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9624-190C>T single nucleotide variant not provided [RCV000826574] Chr21:46442307 [GRCh38]
Chr21:47862220 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.9700+138A>G single nucleotide variant not provided [RCV000826575] Chr21:46442711 [GRCh38]
Chr21:47862624 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.5411G>A (p.Arg1804Gln) single nucleotide variant not provided [RCV000827058] Chr21:46411484 [GRCh38]
Chr21:47831398 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.90C>T (p.Asp30=) single nucleotide variant PCNT-related disorder [RCV003940841]|not provided [RCV000899747] Chr21:46326412 [GRCh38]
Chr21:47746326 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1965G>A (p.Val655=) single nucleotide variant not provided [RCV000881791] Chr21:46357002 [GRCh38]
Chr21:47776917 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.-15C>G single nucleotide variant not provided [RCV000828328] Chr21:46324214 [GRCh38]
Chr21:47744128 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5115+147C>T single nucleotide variant not provided [RCV000829616] Chr21:46402630 [GRCh38]
Chr21:47822544 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.9967+89G>C single nucleotide variant not provided [RCV000829617] Chr21:46444910 [GRCh38]
Chr21:47864823 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.9274-58dup duplication not provided [RCV000834820] Chr21:46440024..46440025 [GRCh38]
Chr21:47859937..47859938 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.3749G>A (p.Arg1250Gln) single nucleotide variant PCNT-related disorder [RCV003411825]|not provided [RCV000840239] Chr21:46389340 [GRCh38]
Chr21:47809255 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.2609+211T>C single nucleotide variant not provided [RCV000826571] Chr21:46364145 [GRCh38]
Chr21:47784060 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1937-183G>A single nucleotide variant not provided [RCV000826568] Chr21:46356791 [GRCh38]
Chr21:47776706 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.720+110A>C single nucleotide variant not provided [RCV000826569] Chr21:46346318 [GRCh38]
Chr21:47766232 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.9624-222T>C single nucleotide variant not provided [RCV000826573] Chr21:46442275 [GRCh38]
Chr21:47862188 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.4217-226G>A single nucleotide variant not provided [RCV000826576] Chr21:46397039 [GRCh38]
Chr21:47816953 [GRCh37]
Chr21:21q22.3		 benign
NC_000021.9:g.46436193C>A single nucleotide variant not provided [RCV000826593] Chr21:47856106 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.8752-308G>A single nucleotide variant not provided [RCV000827833] Chr21:46435596 [GRCh38]
Chr21:47855509 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.6353A>G (p.Glu2118Gly) single nucleotide variant not provided [RCV000997854] Chr21:46416271 [GRCh38]
Chr21:47836185 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6150+147C>T single nucleotide variant not provided [RCV000835338] Chr21:46413139 [GRCh38]
Chr21:47833053 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_006031.6(PCNT):c.2154+116A>G single nucleotide variant not provided [RCV000826570] Chr21:46357307 [GRCh38]
Chr21:47777222 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.4962+91G>A single nucleotide variant not provided [RCV000826577] Chr21:46401812 [GRCh38]
Chr21:47821726 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.267+163G>A single nucleotide variant not provided [RCV000837193] Chr21:46326752 [GRCh38]
Chr21:47746666 [GRCh37]
Chr21:21q22.3		 likely benign
NC_000021.9:g.46366534T>A single nucleotide variant not provided [RCV000829601] Chr21:47786449 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.4584+129T>C single nucleotide variant not provided [RCV000833277] Chr21:46398384 [GRCh38]
Chr21:47818298 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.2610-50T>G single nucleotide variant not provided [RCV000833534] Chr21:46366534 [GRCh38]
Chr21:47786449 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.6150+150A>C single nucleotide variant not provided [RCV000829624] Chr21:46413142 [GRCh38]
Chr21:47833056 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.3(chr21:45125672-48097372)x1 copy number loss not provided [RCV001007144] Chr21:45125672..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1064A>G (p.Asp355Gly) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001137394] Chr21:46349043 [GRCh38]
Chr21:47768957 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3312+14G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001137600]|not provided [RCV002070613] Chr21:46381854 [GRCh38]
Chr21:47801769 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.5116-260T>C single nucleotide variant not provided [RCV000826308] Chr21:46410929 [GRCh38]
Chr21:47830843 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.262G>A (p.Ala88Thr) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001137277]|PCNT-related disorder [RCV004740576]|not provided [RCV001856755] Chr21:46326584 [GRCh38]
Chr21:47746498 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.267+3A>G single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001137278]|PCNT-related disorder [RCV003945854] Chr21:46326592 [GRCh38]
Chr21:47746506 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9393+102C>T single nucleotide variant not provided [RCV000826572] Chr21:46440304 [GRCh38]
Chr21:47860217 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.7494+143T>C single nucleotide variant not provided [RCV000826578] Chr21:46427938 [GRCh38]
Chr21:47847852 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.977C>T (p.Ala326Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001137393]|PCNT-related disorder [RCV003938489]|not provided [RCV002070608] Chr21:46347457 [GRCh38]
Chr21:47767371 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.2545G>T (p.Gly849Trp) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001137512] Chr21:46363870 [GRCh38]
Chr21:47783785 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5874C>T (p.His1958=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001137934] Chr21:46411947 [GRCh38]
Chr21:47831861 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4563+11G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001137719]|not provided [RCV002070614] Chr21:46398141 [GRCh38]
Chr21:47818055 [GRCh37]
Chr21:21q22.3		 benign|uncertain significance
NM_006031.6(PCNT):c.4056C>T (p.Ala1352=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140604]|PCNT-related disorder [RCV003940793]|not provided [RCV000897415] Chr21:46391216 [GRCh38]
Chr21:47811131 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NC_000021.9:g.46438359T>C single nucleotide variant not provided [RCV000829602] Chr21:47858272 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.9967+79C>T single nucleotide variant not provided [RCV000829603] Chr21:46444900 [GRCh38]
Chr21:47864813 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1937-161G>A single nucleotide variant not provided [RCV000829615] Chr21:46356813 [GRCh38]
Chr21:47776728 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1345-287C>T single nucleotide variant not provided [RCV000827832] Chr21:46351142 [GRCh38]
Chr21:47771056 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.8771G>A (p.Arg2924His) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138352]|PCNT-related disorder [RCV004740583]|not provided [RCV002556948] Chr21:46435923 [GRCh38]
Chr21:47855836 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9394-3T>C single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001136632]|PCNT-related disorder [RCV003928731]|not provided [RCV001531367] Chr21:46440852 [GRCh38]
Chr21:47860765 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.9564C>T (p.Ile3188=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001136633]|not provided [RCV002070590] Chr21:46441025 [GRCh38]
Chr21:47860938 [GRCh37]
Chr21:21q22.3		 benign|uncertain significance
NM_006031.6(PCNT):c.4568C>T (p.Ala1523Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001137721]|PCNT-related disorder [RCV003963074]|not provided [RCV001856758] Chr21:46398239 [GRCh38]
Chr21:47818153 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6586G>A (p.Val2196Ile) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138046] Chr21:46416504 [GRCh38]
Chr21:47836418 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6593G>A (p.Gly2198Asp) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138047] Chr21:46416511 [GRCh38]
Chr21:47836425 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7559_7561delinsGGCC (p.Glu2520fs) indel not provided [RCV001008385] Chr21:46428459..46428461 [GRCh38]
Chr21:47848373..47848375 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.1069T>C (p.Cys357Arg) single nucleotide variant not provided [RCV000997853] Chr21:46349048 [GRCh38]
Chr21:47768962 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:47681922-48097372)x1 copy number loss not provided [RCV001007151] Chr21:47681922..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:47769158-48097372)x3 copy number gain not provided [RCV000847620] Chr21:47769158..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7783G>A (p.Val2595Met) single nucleotide variant Inborn genetic diseases [RCV003290340] Chr21:46430102 [GRCh38]
Chr21:47850016 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7690+5G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001142994] Chr21:46428595 [GRCh38]
Chr21:47848509 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1737T>C (p.Asp579=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140393]|PCNT-related disorder [RCV004740595]|not provided [RCV003669201] Chr21:46354044 [GRCh38]
Chr21:47773958 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.4791+14A>G single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140704]|not provided [RCV002070686] Chr21:46399810 [GRCh38]
Chr21:47819724 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.*221C>G single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001141478] Chr21:46445548 [GRCh38]
Chr21:47865461 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5470C>T (p.Leu1824Phe) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001137830] Chr21:46411543 [GRCh38]
Chr21:47831457 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5919C>T (p.Gly1973=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001137935]|PCNT-related disorder [RCV003938490]|not provided [RCV002070618] Chr21:46411992 [GRCh38]
Chr21:47831906 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.8201C>T (p.Ala2734Val) single nucleotide variant PCNT-related disorder [RCV003396965]|not provided [RCV003231974] Chr21:46431665 [GRCh38]
Chr21:47851579 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7682G>T (p.Arg2561Leu) single nucleotide variant PCNT-related disorder [RCV003395694]|not provided [RCV003104608] Chr21:46428582 [GRCh38]
Chr21:47848496 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5905C>T (p.Arg1969Cys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003232047]|PCNT-related disorder [RCV004741472] Chr21:46411978 [GRCh38]
Chr21:47831892 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4963-180dup duplication not provided [RCV001641805] Chr21:46402149..46402150 [GRCh38]
Chr21:47822063..47822064 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.3312+235T>C single nucleotide variant not provided [RCV001546180] Chr21:46382075 [GRCh38]
Chr21:47801990 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7577C>G (p.Ala2526Gly) single nucleotide variant PCNT-related disorder [RCV004741032]|not provided [RCV001551867] Chr21:46428477 [GRCh38]
Chr21:47848391 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7179+145C>T single nucleotide variant not provided [RCV001567201] Chr21:46422269 [GRCh38]
Chr21:47842183 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9839+137G>A single nucleotide variant not provided [RCV001552256] Chr21:46444085 [GRCh38]
Chr21:47863998 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1680-235_1680-234insTGAG insertion not provided [RCV001570843] Chr21:46353751..46353752 [GRCh38]
Chr21:47773665..47773666 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3559G>A (p.Val1187Met) single nucleotide variant Inborn genetic diseases [RCV003275238] Chr21:46388836 [GRCh38]
Chr21:47808751 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2610-268C>T single nucleotide variant not provided [RCV001575830] Chr21:46366316 [GRCh38]
Chr21:47786231 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9624-207C>T single nucleotide variant not provided [RCV001553407] Chr21:46442290 [GRCh38]
Chr21:47862203 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7025-287G>A single nucleotide variant not provided [RCV001614996] Chr21:46421683 [GRCh38]
Chr21:47841597 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.8997-222G>A single nucleotide variant not provided [RCV001722954] Chr21:46436757 [GRCh38]
Chr21:47856670 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1680-236_1680-233del deletion not provided [RCV001723020] Chr21:46353750..46353753 [GRCh38]
Chr21:47773664..47773667 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1680-235GA[3] microsatellite not provided [RCV001723031] Chr21:46353752..46353753 [GRCh38]
Chr21:47773666..47773667 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.6151-103_6151-102insCT insertion not provided [RCV001660861] Chr21:46415966..46415967 [GRCh38]
Chr21:47835880..47835881 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1762-243C>T single nucleotide variant not provided [RCV001597800] Chr21:46355209 [GRCh38]
Chr21:47775124 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1679+220C>G single nucleotide variant not provided [RCV001722040] Chr21:46353546 [GRCh38]
Chr21:47773460 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.977-76G>C single nucleotide variant not provided [RCV001722042] Chr21:46347381 [GRCh38]
Chr21:47767295 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.3312+166G>A single nucleotide variant not provided [RCV001722043] Chr21:46382006 [GRCh38]
Chr21:47801921 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.9967+198C>A single nucleotide variant not provided [RCV001722048] Chr21:46445019 [GRCh38]
Chr21:47864932 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.9700+168C>T single nucleotide variant not provided [RCV001722053] Chr21:46442741 [GRCh38]
Chr21:47862654 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1680-271GT[15] microsatellite not provided [RCV001713569] Chr21:46353716..46353721 [GRCh38]
Chr21:47773630..47773635 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.9099+249_9099+297del deletion not provided [RCV001651653] Chr21:46437287..46437335 [GRCh38]
Chr21:47857200..47857248 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1032+56C>T single nucleotide variant not provided [RCV001655511] Chr21:46347568 [GRCh38]
Chr21:47767482 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.6150+21G>A single nucleotide variant not provided [RCV001568891] Chr21:46413013 [GRCh38]
Chr21:47832927 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4217-326T>C single nucleotide variant not provided [RCV001550403] Chr21:46396939 [GRCh38]
Chr21:47816853 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7320+130_7320+131insAGAGTCTCGCTGTCTCTACCAGGCTGGAGTGCAGTGGCACAATC insertion not provided [RCV001608637] Chr21:46426100..46426101 [GRCh38]
Chr21:47846014..47846015 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.6150+109C>T single nucleotide variant not provided [RCV001636355] Chr21:46413101 [GRCh38]
Chr21:47833015 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1680-147C>T single nucleotide variant not provided [RCV001561455] Chr21:46353840 [GRCh38]
Chr21:47773754 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7180-306C>T single nucleotide variant not provided [RCV001598002] Chr21:46425525 [GRCh38]
Chr21:47845439 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1876G>A (p.Val626Ile) single nucleotide variant Inborn genetic diseases [RCV002592480]|PCNT-related disorder [RCV003405731]|not provided [RCV001586926] Chr21:46355566 [GRCh38]
Chr21:47775481 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.3166-105G>A single nucleotide variant not provided [RCV001654252] Chr21:46381589 [GRCh38]
Chr21:47801504 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.8997-220G>A single nucleotide variant not provided [RCV001665467] Chr21:46436759 [GRCh38]
Chr21:47856672 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.764G>A (p.Ser255Asn) single nucleotide variant not provided [RCV002284711] Chr21:46346786 [GRCh38]
Chr21:47766700 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1680-271GT[20] microsatellite not provided [RCV001557075] Chr21:46353715..46353716 [GRCh38]
Chr21:47773629..47773630 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7320+51T>C single nucleotide variant not provided [RCV001639697] Chr21:46426022 [GRCh38]
Chr21:47845936 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.3312+151A>G single nucleotide variant not provided [RCV001639702] Chr21:46381991 [GRCh38]
Chr21:47801906 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.6150+27T>C single nucleotide variant not provided [RCV001557344] Chr21:46413019 [GRCh38]
Chr21:47832933 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6150+154G>C single nucleotide variant not provided [RCV001557554] Chr21:46413146 [GRCh38]
Chr21:47833060 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1937-66C>T single nucleotide variant not provided [RCV001577725] Chr21:46356908 [GRCh38]
Chr21:47776823 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3464+307C>A single nucleotide variant not provided [RCV001570303] Chr21:46386290 [GRCh38]
Chr21:47806205 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5994+280C>A single nucleotide variant not provided [RCV001557824] Chr21:46412347 [GRCh38]
Chr21:47832261 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.54+286_54+287insT insertion not provided [RCV001614151] Chr21:46324568..46324569 [GRCh38]
Chr21:47744482..47744483 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.685G>A (p.Gly229Ser) single nucleotide variant PCNT-related disorder [RCV003401925]|not provided [RCV002001847] Chr21:46346173 [GRCh38]
Chr21:47766087 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1680-232A>T single nucleotide variant not provided [RCV001676516] Chr21:46353755 [GRCh38]
Chr21:47773669 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.9100-286C>T single nucleotide variant not provided [RCV001552075] Chr21:46437878 [GRCh38]
Chr21:47857791 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4584+220C>T single nucleotide variant not provided [RCV001616370] Chr21:46398475 [GRCh38]
Chr21:47818389 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.7024+223C>T single nucleotide variant not provided [RCV001719328] Chr21:46418529 [GRCh38]
Chr21:47838443 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1936+214G>A single nucleotide variant not provided [RCV001585004] Chr21:46355840 [GRCh38]
Chr21:47775755 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3607+148C>T single nucleotide variant not provided [RCV001570807] Chr21:46389032 [GRCh38]
Chr21:47808947 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8997-213G>A single nucleotide variant not provided [RCV001592630] Chr21:46436766 [GRCh38]
Chr21:47856679 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7320+106_7320+107insCTT insertion not provided [RCV001656838] Chr21:46426075..46426076 [GRCh38]
Chr21:47845989..47845990 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1032+274C>A single nucleotide variant not provided [RCV001654954] Chr21:46347786 [GRCh38]
Chr21:47767700 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.8955C>T (p.Ala2985=) single nucleotide variant PCNT-related disorder [RCV003910776]|not provided [RCV000902728] Chr21:46436107 [GRCh38]
Chr21:47856020 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6151-9C>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001000783]|PCNT-related disorder [RCV003936194]|not provided [RCV000974666]|not specified [RCV001819144] Chr21:46416060 [GRCh38]
Chr21:47835974 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.2250G>A (p.Thr750=) single nucleotide variant not provided [RCV000907211] Chr21:46363575 [GRCh38]
Chr21:47783490 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2566G>A (p.Val856Met) single nucleotide variant PCNT-related disorder [RCV003940376]|not provided [RCV000879363] Chr21:46363891 [GRCh38]
Chr21:47783806 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.6144C>T (p.Gly2048=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140942]|PCNT-related disorder [RCV003953373]|not provided [RCV000980872] Chr21:46412986 [GRCh38]
Chr21:47832900 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.1899C>T (p.His633=) single nucleotide variant not provided [RCV000901837] Chr21:46355589 [GRCh38]
Chr21:47775504 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.519_520insGTCAGTGACCACCCACCGGAACAGCGTGGGATGTTCACA (p.Val161_Thr173dup) insertion PCNT-related disorder [RCV003962851]|not provided [RCV000968788] Chr21:46334627..46334628 [GRCh38]
Chr21:47754541..47754542 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3390G>A (p.Arg1130=) single nucleotide variant PCNT-related disorder [RCV003940547]|not provided [RCV000886405] Chr21:46385909 [GRCh38]
Chr21:47805824 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.533A>C (p.Gln178Pro) single nucleotide variant Inborn genetic diseases [RCV002559356]|Microcephalic osteodysplastic primordial dwarfism type II [RCV001140290]|PCNT-related disorder [RCV004740591]|not provided [RCV001729800] Chr21:46334662 [GRCh38]
Chr21:47754576 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.571A>C (p.Thr191Pro) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140293] Chr21:46334700 [GRCh38]
Chr21:47754614 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5698C>T (p.Arg1900Cys) single nucleotide variant Inborn genetic diseases [RCV004960486]|Microcephalic osteodysplastic primordial dwarfism type II [RCV001140828]|PCNT-related disorder [RCV004740596] Chr21:46411771 [GRCh38]
Chr21:47831685 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5724G>A (p.Gln1908=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140831]|PCNT-related disorder [RCV003906257]|not provided [RCV002070687] Chr21:46411797 [GRCh38]
Chr21:47831711 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.6147C>T (p.Gly2049=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140944] Chr21:46412989 [GRCh38]
Chr21:47832903 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8268G>T (p.Glu2756Asp) single nucleotide variant Inborn genetic diseases [RCV004659362]|Microcephalic osteodysplastic primordial dwarfism type II [RCV001141253] Chr21:46431732 [GRCh38]
Chr21:47851646 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8996+10C>G single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138777]|PCNT-related disorder [RCV004740584]|not provided [RCV003727895] Chr21:46436158 [GRCh38]
Chr21:47856071 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.862C>T (p.Arg288Cys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001142129] Chr21:46346884 [GRCh38]
Chr21:47766798 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2154+7C>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001142250] Chr21:46357198 [GRCh38]
Chr21:47777113 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4222C>T (p.Arg1408Trp) single nucleotide variant Inborn genetic diseases [RCV002559380]|Microcephalic osteodysplastic primordial dwarfism type II [RCV001142468]|PCNT-related disorder [RCV003405347]|not provided [RCV002032352] Chr21:46397270 [GRCh38]
Chr21:47817184 [GRCh37]
Chr21:21q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.7699C>T (p.Leu2567=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001142995]|not provided [RCV003574843] Chr21:46430018 [GRCh38]
Chr21:47849932 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.9279G>A (p.Ser3093=) single nucleotide variant Inborn genetic diseases [RCV004649462]|Microcephalic osteodysplastic primordial dwarfism type II [RCV001143210]|PCNT-related disorder [RCV003963083]|not provided [RCV002559383] Chr21:46440088 [GRCh38]
Chr21:47860001 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.9280G>C (p.Glu3094Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001143211]|PCNT-related disorder [RCV003396769] Chr21:46440089 [GRCh38]
Chr21:47860002 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.*318A>G single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001143316] Chr21:46445645 [GRCh38]
Chr21:47865558 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3423del (p.Ser1142fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV001196169] Chr21:46385942 [GRCh38]
Chr21:47805857 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.2376A>C (p.Arg792=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001137510]|not provided [RCV000890206] Chr21:46363701 [GRCh38]
Chr21:47783616 [GRCh37]
Chr21:21q22.3		 benign|uncertain significance
NM_006031.6(PCNT):c.7446G>C (p.Gly2482=) single nucleotide variant not provided [RCV000889175] Chr21:46427747 [GRCh38]
Chr21:47847661 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2559G>A (p.Ala853=) single nucleotide variant PCNT-related disorder [RCV003940629]|not provided [RCV000889174] Chr21:46363884 [GRCh38]
Chr21:47783799 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5708G>T (p.Arg1903Leu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140829]|PCNT-related disorder [RCV003940666]|not provided [RCV000890589] Chr21:46411781 [GRCh38]
Chr21:47831695 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.977-218C>T single nucleotide variant not provided [RCV001561733] Chr21:46347239 [GRCh38]
Chr21:47767153 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6150+141A>G single nucleotide variant not provided [RCV001659527] Chr21:46413133 [GRCh38]
Chr21:47833047 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.9273+152A>C single nucleotide variant not provided [RCV001569717] Chr21:46438489 [GRCh38]
Chr21:47858402 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5047T>C (p.Leu1683=) single nucleotide variant PCNT-related disorder [RCV003983978]|not provided [RCV001564483] Chr21:46402415 [GRCh38]
Chr21:47822329 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1679+224C>G single nucleotide variant not provided [RCV001577320] Chr21:46353550 [GRCh38]
Chr21:47773464 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1680-236T>A single nucleotide variant not provided [RCV001569852] Chr21:46353751 [GRCh38]
Chr21:47773665 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3608-46G>A single nucleotide variant not provided [RCV001562492] Chr21:46389153 [GRCh38]
Chr21:47809068 [GRCh37]
Chr21:21q22.3		 likely benign
NC_000021.9:g.46324062C>T single nucleotide variant not provided [RCV001557494] Chr21:46324062 [GRCh38]
Chr21:47743976 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1936+59G>A single nucleotide variant not provided [RCV001657147] Chr21:46355685 [GRCh38]
Chr21:47775600 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.6316_6325del (p.Leu2106fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV003237397] Chr21:46416234..46416243 [GRCh38]
Chr21:47836148..47836157 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.2812C>T (p.Gln938Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003237398] Chr21:46366786 [GRCh38]
Chr21:47786701 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.268-330T>C single nucleotide variant not provided [RCV001549454] Chr21:46334067 [GRCh38]
Chr21:47753981 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6150+112G>A single nucleotide variant not provided [RCV001558384] Chr21:46413104 [GRCh38]
Chr21:47833018 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6922-84G>A single nucleotide variant not provided [RCV001593694] Chr21:46418120 [GRCh38]
Chr21:47838034 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1032+141T>C single nucleotide variant not provided [RCV001552502] Chr21:46347653 [GRCh38]
Chr21:47767567 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3165+135G>T single nucleotide variant not provided [RCV001552514] Chr21:46367274 [GRCh38]
Chr21:47787189 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.721-200C>T single nucleotide variant not provided [RCV001717748] Chr21:46346543 [GRCh38]
Chr21:47766457 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.3841-83G>A single nucleotide variant not provided [RCV001559592] Chr21:46390587 [GRCh38]
Chr21:47810502 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3608-31C>T single nucleotide variant not provided [RCV001559822] Chr21:46389168 [GRCh38]
Chr21:47809083 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8996+322G>C single nucleotide variant not provided [RCV001689095] Chr21:46436470 [GRCh38]
Chr21:47856383 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.3165+81G>C single nucleotide variant not provided [RCV001554959] Chr21:46367220 [GRCh38]
Chr21:47787135 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4585-240A>G single nucleotide variant not provided [RCV001544756] Chr21:46399350 [GRCh38]
Chr21:47819264 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5603C>T (p.Ala1868Val) single nucleotide variant PCNT-related disorder [RCV003948615]|not provided [RCV001571774] Chr21:46411676 [GRCh38]
Chr21:47831590 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 21q22.3(chr21:47500415-48097372)x1 copy number loss not provided [RCV002472844] Chr21:47500415..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7691-95A>G single nucleotide variant not provided [RCV001560463] Chr21:46429915 [GRCh38]
Chr21:47849829 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9394-160T>A single nucleotide variant not provided [RCV001555604] Chr21:46440695 [GRCh38]
Chr21:47860608 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8223_8224del (p.Glu2742fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV001263464] Chr21:46431687..46431688 [GRCh38]
Chr21:47851601..47851602 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.2818dup (p.Ala940fs) duplication not provided [RCV001528885] Chr21:46366787..46366788 [GRCh38]
Chr21:47786702..47786703 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3312+311G>A single nucleotide variant not provided [RCV001659274] Chr21:46382151 [GRCh38]
Chr21:47802066 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.4963-212G>T single nucleotide variant not provided [RCV001639018] Chr21:46402119 [GRCh38]
Chr21:47822033 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.6150+309A>G single nucleotide variant not provided [RCV001720398] Chr21:46413301 [GRCh38]
Chr21:47833215 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.5994+231C>T single nucleotide variant not provided [RCV001674277] Chr21:46412298 [GRCh38]
Chr21:47832212 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.6150+90A>C single nucleotide variant not provided [RCV001636561] Chr21:46413082 [GRCh38]
Chr21:47832996 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.8064+245dup duplication not provided [RCV001639047] Chr21:46430893..46430894 [GRCh38]
Chr21:47850807..47850808 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.54+287_54+288insTG insertion not provided [RCV001687695] Chr21:46324568..46324569 [GRCh38]
Chr21:47744482..47744483 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1033-254T>G single nucleotide variant not provided [RCV001621466] Chr21:46348758 [GRCh38]
Chr21:47768672 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1680-235_1680-234insTGTGAG microsatellite not provided [RCV001677636] Chr21:46353751..46353752 [GRCh38]
Chr21:47773665..47773666 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.8398C>G (p.Arg2800Gly) single nucleotide variant PCNT-related disorder [RCV003405735]|not provided [RCV001592141] Chr21:46431862 [GRCh38]
Chr21:47851776 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4792-318A>G single nucleotide variant not provided [RCV001538533] Chr21:46401233 [GRCh38]
Chr21:47821147 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9840-31_9840-30del deletion not provided [RCV001722942] Chr21:46444648..46444649 [GRCh38]
Chr21:47864561..47864562 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.8065-268A>G single nucleotide variant not provided [RCV001527825] Chr21:46431261 [GRCh38]
Chr21:47851175 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.9273+214C>T single nucleotide variant not provided [RCV001536956] Chr21:46438551 [GRCh38]
Chr21:47858464 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3312+226_3312+232del deletion not provided [RCV001723117] Chr21:46382066..46382072 [GRCh38]
Chr21:47801981..47801987 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1680-242_1680-233del deletion not provided [RCV001597944] Chr21:46353744..46353753 [GRCh38]
Chr21:47773658..47773667 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1761+57T>C single nucleotide variant not provided [RCV001661220] Chr21:46354125 [GRCh38]
Chr21:47774039 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.9701-201C>G single nucleotide variant not provided [RCV001719175] Chr21:46443609 [GRCh38]
Chr21:47863522 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.8751+23dup duplication Microcephalic osteodysplastic primordial dwarfism type II [RCV001788716]|not provided [RCV001673302] Chr21:46432237..46432238 [GRCh38]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.977-192G>A single nucleotide variant not provided [RCV001641845] Chr21:46347265 [GRCh38]
Chr21:47767179 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.8752-301C>T single nucleotide variant not provided [RCV001587506] Chr21:46435603 [GRCh38]
Chr21:47855516 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1207+196C>G single nucleotide variant not provided [RCV001678478] Chr21:46349382 [GRCh38]
Chr21:47769296 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.3481G>A (p.Ala1161Thr) single nucleotide variant PCNT-related disorder [RCV003921254]|not provided [RCV001590319] Chr21:46388758 [GRCh38]
Chr21:47808673 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity
NM_006031.6(PCNT):c.5994+59G>A single nucleotide variant not provided [RCV001715587] Chr21:46412126 [GRCh38]
Chr21:47832040 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.3313-84C>G single nucleotide variant not provided [RCV001598280] Chr21:46385748 [GRCh38]
Chr21:47805663 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.3312+160G>C single nucleotide variant not provided [RCV001617489] Chr21:46382000 [GRCh38]
Chr21:47801915 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.9840-30del deletion not provided [RCV001686205] Chr21:46444648 [GRCh38]
Chr21:47864561 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.9624-255C>T single nucleotide variant not provided [RCV001598609] Chr21:46442242 [GRCh38]
Chr21:47862155 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.976+96G>A single nucleotide variant not provided [RCV001722041] Chr21:46347094 [GRCh38]
Chr21:47767008 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.4447-125G>A single nucleotide variant not provided [RCV001722044] Chr21:46397889 [GRCh38]
Chr21:47817803 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.4217-152A>G single nucleotide variant not provided [RCV001722045] Chr21:46397113 [GRCh38]
Chr21:47817027 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.3312+171G>A single nucleotide variant not provided [RCV001722046] Chr21:46382011 [GRCh38]
Chr21:47801926 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.5116-219C>T single nucleotide variant not provided [RCV001722049] Chr21:46410970 [GRCh38]
Chr21:47830884 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.7025-192C>T single nucleotide variant not provided [RCV001722050] Chr21:46421778 [GRCh38]
Chr21:47841692 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.9840-151G>A single nucleotide variant not provided [RCV001722051] Chr21:46444543 [GRCh38]
Chr21:47864456 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.9624-237G>C single nucleotide variant not provided [RCV001722052] Chr21:46442260 [GRCh38]
Chr21:47862173 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.5995-170G>A single nucleotide variant not provided [RCV001598496] Chr21:46412667 [GRCh38]
Chr21:47832581 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4447-254_4447-244dup duplication not provided [RCV001677272] Chr21:46397755..46397756 [GRCh38]
Chr21:47817669..47817670 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.7320+125dup duplication not provided [RCV001620988] Chr21:46426069..46426070 [GRCh38]
Chr21:47845983..47845984 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.7321-66G>A single nucleotide variant not provided [RCV001596583] Chr21:46427556 [GRCh38]
Chr21:47847470 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.54+271_54+275dup duplication not provided [RCV001656540] Chr21:46324552..46324553 [GRCh38]
Chr21:47744466..47744467 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.9099+12G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001141357]|not provided [RCV002070694] Chr21:46437093 [GRCh38]
Chr21:47857006 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.9235T>C (p.Leu3079=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001141359]|PCNT-related disorder [RCV003928738]|not provided [RCV002557004] Chr21:46438299 [GRCh38]
Chr21:47858212 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.623G>A (p.Arg208His) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001142127]|PCNT-related disorder [RCV003918726]|not provided [RCV001528419] Chr21:46334752 [GRCh38]
Chr21:47754666 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.7029C>T (p.Asp2343=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001142891]|PCNT-related disorder [RCV003953522]|not provided [RCV002070716] Chr21:46421974 [GRCh38]
Chr21:47841888 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.4949G>A (p.Arg1650Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001142579]|PCNT-related disorder [RCV004740601] Chr21:46401708 [GRCh38]
Chr21:47821622 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5813A>C (p.Gln1938Pro) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001142676] Chr21:46411886 [GRCh38]
Chr21:47831800 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8641C>T (p.Arg2881Trp) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001143094] Chr21:46432105 [GRCh38]
Chr21:47852019 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9661C>T (p.Arg3221Trp) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001136636]|not provided [RCV002557970] Chr21:46442534 [GRCh38]
Chr21:47862447 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9278C>T (p.Ser3093Leu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001143209]|PCNT-related disorder [RCV003963082]|not provided [RCV003769684] Chr21:46440087 [GRCh38]
Chr21:47860000 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1813C>G (p.Leu605Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001287015]|not provided [RCV002537953] Chr21:46355503 [GRCh38]
Chr21:47775418 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3333C>T (p.Ser1111=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001137601]|not provided [RCV003574840] Chr21:46385852 [GRCh38]
Chr21:47805767 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.1181T>C (p.Ile394Thr) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001139628]|PCNT-related disorder [RCV003906254] Chr21:46349160 [GRCh38]
Chr21:47769074 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5320G>C (p.Glu1774Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001137829] Chr21:46411393 [GRCh38]
Chr21:47831307 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5937C>T (p.Thr1979=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001137936]|PCNT-related disorder [RCV004740580]|not provided [RCV003718356] Chr21:46412010 [GRCh38]
Chr21:47831924 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.7230A>G (p.Ser2410=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138145]|not provided [RCV003769655] Chr21:46425881 [GRCh38]
Chr21:47845795 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.1542C>T (p.Ser514=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140388]|PCNT-related disorder [RCV004740593]|not provided [RCV003718359] Chr21:46353189 [GRCh38]
Chr21:47773103 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.1716A>G (p.Lys572=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140391]|PCNT-related disorder [RCV004740594]|not provided [RCV002070679] Chr21:46354023 [GRCh38]
Chr21:47773937 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.7568C>T (p.Ala2523Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001141150]|PCNT-related disorder [RCV003938495]|not provided [RCV001548524]|not specified [RCV001819846] Chr21:46428468 [GRCh38]
Chr21:47848382 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.4584+3G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001139940]|not provided [RCV002070670] Chr21:46398258 [GRCh38]
Chr21:47818172 [GRCh37]
Chr21:21q22.3		 benign|uncertain significance
NM_006031.6(PCNT):c.4584+11G>C single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001139942]|not provided [RCV003769668] Chr21:46398266 [GRCh38]
Chr21:47818180 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.2750C>T (p.Ala917Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140495]|PCNT-related disorder [RCV003413949]|not provided [RCV002556993] Chr21:46366724 [GRCh38]
Chr21:47786639 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2784C>T (p.Gly928=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140496]|PCNT-related disorder [RCV003945859]|not provided [RCV002559360] Chr21:46366758 [GRCh38]
Chr21:47786673 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_006031.6(PCNT):c.3812T>G (p.Met1271Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140602]|not provided [RCV005056930] Chr21:46389403 [GRCh38]
Chr21:47809318 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4176G>C (p.Arg1392=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140605]|not provided [RCV003769671] Chr21:46391336 [GRCh38]
Chr21:47811251 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.4584+11G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001139941]|not provided [RCV002556976] Chr21:46398266 [GRCh38]
Chr21:47818180 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.509G>C (p.Gly170Ala) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140289]|not provided [RCV002556984] Chr21:46334638 [GRCh38]
Chr21:47754552 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5647C>T (p.Arg1883Trp) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140068]|PCNT-related disorder [RCV003413948]|not provided [RCV002559352] Chr21:46411720 [GRCh38]
Chr21:47831634 [GRCh37]
Chr21:21q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.545G>A (p.Arg182His) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140292]|not provided [RCV002556985] Chr21:46334674 [GRCh38]
Chr21:47754588 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1590T>C (p.Ala530=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140390]|not provided [RCV002070678] Chr21:46353237 [GRCh38]
Chr21:47773151 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.*110G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001141475]|not provided [RCV004694875] Chr21:46445437 [GRCh38]
Chr21:47865350 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2842G>A (p.Glu948Lys) single nucleotide variant Inborn genetic diseases [RCV004649461]|Microcephalic osteodysplastic primordial dwarfism type II [RCV001140498]|PCNT-related disorder [RCV004726900] Chr21:46366816 [GRCh38]
Chr21:47786731 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6192C>T (p.Val2064=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140946]|PCNT-related disorder [RCV004740598]|not provided [RCV002556998] Chr21:46416110 [GRCh38]
Chr21:47836024 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.4791+8G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140703]|PCNT-related disorder [RCV003945860]|not provided [RCV003718360] Chr21:46399804 [GRCh38]
Chr21:47819718 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.6145G>A (p.Gly2049Ser) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140943]|PCNT-related disorder [RCV004740597]|not provided [RCV001882428] Chr21:46412987 [GRCh38]
Chr21:47832901 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3165+187del deletion not provided [RCV001669885] Chr21:46367311 [GRCh38]
Chr21:47787226 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.9684C>T (p.Gly3228=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138885]|PCNT-related disorder [RCV003898136]|not provided [RCV001882422] Chr21:46442557 [GRCh38]
Chr21:47862470 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9694C>T (p.Arg3232Cys) single nucleotide variant Inborn genetic diseases [RCV003246716]|Microcephalic osteodysplastic primordial dwarfism type II [RCV001138886]|PCNT-related disorder [RCV004740585]|not provided [RCV002556962] Chr21:46442567 [GRCh38]
Chr21:47862480 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.7494+137C>A single nucleotide variant not provided [RCV001685936] Chr21:46427932 [GRCh38]
Chr21:47847846 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1680-238_1680-233del deletion not provided [RCV001651914] Chr21:46353748..46353753 [GRCh38]
Chr21:47773662..47773667 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.9968-223dup duplication not provided [RCV001614285] Chr21:46445055..46445056 [GRCh38]
Chr21:47864968..47864969 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1680-271GT[16] microsatellite not provided [RCV001611715] Chr21:46353716..46353719 [GRCh38]
Chr21:47773630..47773633 [GRCh37]
Chr21:21q22.3		 benign
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3 copy number gain See cases [RCV001007433] Chr21:42044877..48100155 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
NM_006031.6(PCNT):c.4446+155G>T single nucleotide variant not provided [RCV001614558] Chr21:46397649 [GRCh38]
Chr21:47817563 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.54+161C>T single nucleotide variant not provided [RCV001583324] Chr21:46324443 [GRCh38]
Chr21:47744357 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1680-226AG[3] microsatellite not provided [RCV001667352] Chr21:46353761..46353764 [GRCh38]
Chr21:47773675..47773678 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.6922-310C>A single nucleotide variant not provided [RCV001707330] Chr21:46417894 [GRCh38]
Chr21:47837808 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.3841-103_3841-101dup duplication not provided [RCV001649245] Chr21:46390565..46390566 [GRCh38]
Chr21:47810480..47810481 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1680-271GT[17] microsatellite not provided [RCV001641448] Chr21:46353716..46353717 [GRCh38]
Chr21:47773630..47773631 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.3312+307G>A single nucleotide variant not provided [RCV001681163] Chr21:46382147 [GRCh38]
Chr21:47802062 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.5115+223A>C single nucleotide variant not provided [RCV001681307] Chr21:46402706 [GRCh38]
Chr21:47822620 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.4962+269A>G single nucleotide variant not provided [RCV001614568] Chr21:46401990 [GRCh38]
Chr21:47821904 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.268-323G>A single nucleotide variant not provided [RCV001572195] Chr21:46334074 [GRCh38]
Chr21:47753988 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9840-32_9840-30del deletion not provided [RCV001612589] Chr21:46444648..46444650 [GRCh38]
Chr21:47864561..47864563 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.2308A>G (p.Met770Val) single nucleotide variant not provided [RCV001572963] Chr21:46363633 [GRCh38]
Chr21:47783548 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3312+159A>G single nucleotide variant not provided [RCV001670753] Chr21:46381999 [GRCh38]
Chr21:47801914 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.3165+41T>A single nucleotide variant not provided [RCV001581593] Chr21:46367180 [GRCh38]
Chr21:47787095 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3840+129T>C single nucleotide variant not provided [RCV001665166] Chr21:46389560 [GRCh38]
Chr21:47809475 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7320+124_7320+125del deletion not provided [RCV001611739] Chr21:46426070..46426071 [GRCh38]
Chr21:47845984..47845985 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.8751+98C>T single nucleotide variant not provided [RCV001614806] Chr21:46432313 [GRCh38]
Chr21:47852226 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.4699C>T (p.Leu1567=) single nucleotide variant not provided [RCV001531366] Chr21:46399704 [GRCh38]
Chr21:47819618 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1345-172C>T single nucleotide variant not provided [RCV001725524] Chr21:46351257 [GRCh38]
Chr21:47771171 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1761+270= deletion not provided [RCV001616324] Chr21:46354338..46354340 [GRCh38]
Chr21:47774253..47774255 [GRCh37]
Chr21:21q22.3		 benign
NC_000021.9:g.46324040C>T single nucleotide variant not provided [RCV001616432] Chr21:46324040 [GRCh38]
Chr21:47743954 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.7320+116_7320+125del deletion not provided [RCV001684044] Chr21:46426070..46426079 [GRCh38]
Chr21:47845984..47845993 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.4585-230T>C single nucleotide variant not provided [RCV001583969] Chr21:46399360 [GRCh38]
Chr21:47819274 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9417C>G (p.Tyr3139Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001580611] Chr21:46440878 [GRCh38]
Chr21:47860791 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.8996+96C>G single nucleotide variant not provided [RCV001586304] Chr21:46436244 [GRCh38]
Chr21:47856157 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7246C>T (p.Pro2416Ser) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138574] Chr21:46425897 [GRCh38]
Chr21:47845811 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9628C>T (p.Arg3210Cys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001136634]|not provided [RCV001856742] Chr21:46442501 [GRCh38]
Chr21:47862414 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.607del (p.His203fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV001170009]|not provided [RCV003546677] Chr21:46334735 [GRCh38]
Chr21:47754649 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_006031.6(PCNT):c.71A>G (p.Gln24Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001137275]|PCNT-related disorder [RCV003405339]|not provided [RCV002556919] Chr21:46326393 [GRCh38]
Chr21:47746307 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.389A>G (p.His130Arg) single nucleotide variant Inborn genetic diseases [RCV004032313]|Microcephalic osteodysplastic primordial dwarfism type II [RCV001137279]|PCNT-related disorder [RCV004740577]|not provided [RCV003238310] Chr21:46334518 [GRCh38]
Chr21:47754432 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.2358A>G (p.Ile786Met) single nucleotide variant Inborn genetic diseases [RCV002556930]|Microcephalic osteodysplastic primordial dwarfism type II [RCV001137509]|PCNT-related disorder [RCV003405340]|not provided [RCV001856757] Chr21:46363683 [GRCh38]
Chr21:47783598 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4563+15C>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001137720]|not provided [RCV003769653] Chr21:46398145 [GRCh38]
Chr21:47818059 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.3221G>A (p.Arg1074Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001142345]|PCNT-related disorder [RCV003405346]|not provided [RCV001882437] Chr21:46381749 [GRCh38]
Chr21:47801664 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7903C>T (p.Leu2635Phe) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138249]|not provided [RCV003769656] Chr21:46430222 [GRCh38]
Chr21:47850136 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9250C>G (p.Leu3084Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001143208] Chr21:46438314 [GRCh38]
Chr21:47858227 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.*234C>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001143315] Chr21:46445561 [GRCh38]
Chr21:47865474 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.5(PCNT):c.*451G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001143317] Chr21:46445778 [GRCh38]
Chr21:47865691 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.505C>T (p.Arg169Cys) single nucleotide variant Inborn genetic diseases [RCV002559345]|Microcephalic osteodysplastic primordial dwarfism type II [RCV001139528]|PCNT-related disorder [RCV003396766]|not provided [RCV002559346] Chr21:46334634 [GRCh38]
Chr21:47754548 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.-33A>G single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001143841] Chr21:46324196 [GRCh38]
Chr21:47744110 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.583C>T (p.Arg195Cys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140294]|PCNT-related disorder [RCV004740592]|not provided [RCV002556986] Chr21:46334712 [GRCh38]
Chr21:47754626 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1 copy number loss not provided [RCV001007138] Chr21:43472147..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.*126A>G single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001141476] Chr21:46445453 [GRCh38]
Chr21:47865366 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.*179G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001141477] Chr21:46445506 [GRCh38]
Chr21:47865419 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.*225G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001141479] Chr21:46445552 [GRCh38]
Chr21:47865465 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1396G>A (p.Glu466Lys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001139629] Chr21:46351480 [GRCh38]
Chr21:47771394 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1483A>G (p.Thr495Ala) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001139630]|PCNT-related disorder [RCV004740590] Chr21:46353130 [GRCh38]
Chr21:47773044 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2610-7G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001139720]|not provided [RCV002070660] Chr21:46366577 [GRCh38]
Chr21:47786492 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.3626C>T (p.Thr1209Ile) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001139825] Chr21:46389217 [GRCh38]
Chr21:47809132 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4642A>G (p.Ile1548Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001139943]|not provided [RCV001856796] Chr21:46399647 [GRCh38]
Chr21:47819561 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1761+13G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001142249]|not provided [RCV002070706] Chr21:46354081 [GRCh38]
Chr21:47773995 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.1716A>T (p.Lys572Asn) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140392]|PCNT-related disorder [RCV003938493]|not provided [RCV003438672] Chr21:46354023 [GRCh38]
Chr21:47773937 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9632T>G (p.Phe3211Cys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001136635] Chr21:46442505 [GRCh38]
Chr21:47862418 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3092G>A (p.Arg1031Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001142343] Chr21:46367066 [GRCh38]
Chr21:47786981 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5105C>T (p.Thr1702Met) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001142581]|PCNT-related disorder [RCV003963080] Chr21:46402473 [GRCh38]
Chr21:47822387 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4681G>A (p.Glu1561Lys) single nucleotide variant Inborn genetic diseases [RCV004659361]|Microcephalic osteodysplastic primordial dwarfism type II [RCV001140701] Chr21:46399686 [GRCh38]
Chr21:47819600 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6768C>T (p.Ala2256=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001141030]|PCNT-related disorder [RCV003945861]|not provided [RCV003546644] Chr21:46416686 [GRCh38]
Chr21:47836600 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.7588A>G (p.Met2530Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001141151] Chr21:46428488 [GRCh38]
Chr21:47848402 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8325A>G (p.Thr2775=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001141255]|PCNT-related disorder [RCV004740599]|not provided [RCV003546645] Chr21:46431789 [GRCh38]
Chr21:47851703 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.1083A>G (p.Leu361=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001137395]|PCNT-related disorder [RCV004740578]|not provided [RCV003769651] Chr21:46349062 [GRCh38]
Chr21:47768976 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.4462C>T (p.Arg1488Trp) single nucleotide variant Inborn genetic diseases [RCV005384947]|Microcephalic osteodysplastic primordial dwarfism type II [RCV001137716] Chr21:46398029 [GRCh38]
Chr21:47817943 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4474C>T (p.Arg1492Cys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001137717] Chr21:46398041 [GRCh38]
Chr21:47817955 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4551T>C (p.Pro1517=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001137718]|not provided [RCV003727894] Chr21:46398118 [GRCh38]
Chr21:47818032 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.5849G>A (p.Arg1950Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001137933]|PCNT-related disorder [RCV003396762]|not provided [RCV001856762] Chr21:46411922 [GRCh38]
Chr21:47831836 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5039A>C (p.Asn1680Thr) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001142580] Chr21:46402407 [GRCh38]
Chr21:47822321 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7224G>A (p.Ala2408=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138144]|PCNT-related disorder [RCV003938492]|not provided [RCV002556940] Chr21:46425875 [GRCh38]
Chr21:47845789 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.7871C>T (p.Ser2624Phe) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001138248]|PCNT-related disorder [RCV004740582]|not provided [RCV001856771] Chr21:46430190 [GRCh38]
Chr21:47850104 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.481G>A (p.Val161Ile) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001139527]|PCNT-related disorder [RCV004740589]|not provided [RCV004694862] Chr21:46334610 [GRCh38]
Chr21:47754524 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3698A>C (p.Glu1233Ala) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001139826]|PCNT-related disorder [RCV003906255]|not provided [RCV002070662] Chr21:46389289 [GRCh38]
Chr21:47809204 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.537G>A (p.Pro179=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140291]|PCNT-related disorder [RCV003945857]|not provided [RCV003558705] Chr21:46334666 [GRCh38]
Chr21:47754580 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.1586A>G (p.Asp529Gly) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140389] Chr21:46353233 [GRCh38]
Chr21:47773147 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4177G>T (p.Gly1393Trp) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140606] Chr21:46391337 [GRCh38]
Chr21:47811252 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4697G>A (p.Arg1566His) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001140702] Chr21:46399702 [GRCh38]
Chr21:47819616 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9099+13C>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001141358]|not provided [RCV002070695] Chr21:46437094 [GRCh38]
Chr21:47857007 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.5443C>T (p.Gln1815Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001253402] Chr21:46411516 [GRCh38]
Chr21:47831430 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.2407C>T (p.Gln803Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001265636] Chr21:46363732 [GRCh38]
Chr21:47783647 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3669dup (p.Glu1224Ter) duplication Microcephalic osteodysplastic primordial dwarfism type II [RCV001255774] Chr21:46389259..46389260 [GRCh38]
Chr21:47809174..47809175 [GRCh37]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21q22.3(chr21:47854391-48097372)x1 copy number loss not provided [RCV001259413] Chr21:47854391..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7494+1G>A single nucleotide variant PCNT-related disorder [RCV003421035]|not provided [RCV003778334] Chr21:46427796 [GRCh38]
Chr21:47847710 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_006031.6(PCNT):c.5055dup (p.Gln1686fs) duplication Microcephalic osteodysplastic primordial dwarfism type II [RCV001255760] Chr21:46402422..46402423 [GRCh38]
Chr21:47822336..47822337 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.1344+2T>C single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001255749] Chr21:46349822 [GRCh38]
Chr21:47769736 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5709C>T (p.Arg1903=) single nucleotide variant PCNT-related disorder [RCV003945988]|not provided [RCV001311587] Chr21:46411782 [GRCh38]
Chr21:47831696 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3181G>T (p.Glu1061Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001294218] Chr21:46381709 [GRCh38]
Chr21:47801624 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.924G>A (p.Glu308=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001287631]|not provided [RCV003727979] Chr21:46346946 [GRCh38]
Chr21:47766860 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.54+141C>T single nucleotide variant not provided [RCV001580826] Chr21:46324423 [GRCh38]
Chr21:47744337 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8065-18dup duplication not provided [RCV002123275] Chr21:46431510..46431511 [GRCh38]
Chr21:47851424..47851425 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.7025-93G>A single nucleotide variant not provided [RCV001538121] Chr21:46421877 [GRCh38]
Chr21:47841791 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.5666C>G (p.Ala1889Gly) single nucleotide variant not provided [RCV001870699] Chr21:46411739 [GRCh38]
Chr21:47831653 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:47279953-48097372)x3 copy number gain not provided [RCV001259417] Chr21:47279953..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6150+94G>C single nucleotide variant not provided [RCV001537195] Chr21:46413086 [GRCh38]
Chr21:47833000 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1435del (p.Thr479fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV001263465] Chr21:46351519 [GRCh38]
Chr21:47771433 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.5719C>T (p.Gln1907Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001263466] Chr21:46411792 [GRCh38]
Chr21:47831706 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_006031.6(PCNT):c.5994+17G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001285027]|not provided [RCV002069510] Chr21:46412084 [GRCh38]
Chr21:47831998 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7167G>A (p.Pro2389=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001287628]|not provided [RCV003727977] Chr21:46422112 [GRCh38]
Chr21:47842026 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7179+308_7179+324dup duplication not provided [RCV001642099] Chr21:46422422..46422423 [GRCh38]
Chr21:47842336..47842337 [GRCh37]
Chr21:21q22.3		 benign
NC_000021.9:g.46323895del deletion not provided [RCV001581474] Chr21:46323895 [GRCh38]
Chr21:47743809 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8257C>T (p.Arg2753Cys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001285103] Chr21:46431721 [GRCh38]
Chr21:47851635 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4554C>T (p.Arg1518=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001289616]|PCNT-related disorder [RCV003918835]|not provided [RCV002541800] Chr21:46398121 [GRCh38]
Chr21:47818035 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8752-2A>C single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001374748] Chr21:46435902 [GRCh38]
Chr21:47855815 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3428T>C (p.Met1143Thr) single nucleotide variant not provided [RCV001354622] Chr21:46385947 [GRCh38]
Chr21:47805862 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3179_3199dup (p.Leu1066_His1067insArgGluLysLysThrAlaLeu) duplication not provided [RCV001354645] Chr21:46381706..46381707 [GRCh38]
Chr21:47801621..47801622 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1531C>T (p.Gln511Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001333483] Chr21:46353178 [GRCh38]
Chr21:47773092 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.2347dup (p.Gln783fs) duplication PCNT-related disorder [RCV004741094]|not provided [RCV001822839] Chr21:46363671..46363672 [GRCh38]
Chr21:47783586..47783587 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_006031.6(PCNT):c.4585-26_7180-1125del deletion Megacolon [RCV001290067] Chr21:46399564..46424706 [GRCh38]
Chr21:47819478..47844620 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4193C>T (p.Thr1398Met) single nucleotide variant PCNT-related disorder [RCV003892168]|not provided [RCV001355539] Chr21:46391353 [GRCh38]
Chr21:47811268 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4974_4977del (p.Lys1659fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV001374750] Chr21:46402342..46402345 [GRCh38]
Chr21:47822256..47822259 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3030G>A (p.Thr1010=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001287630]|PCNT-related disorder [RCV003945962]|not provided [RCV003727978] Chr21:46367004 [GRCh38]
Chr21:47786919 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6800C>T (p.Ser2267Leu) single nucleotide variant Inborn genetic diseases [RCV002542972]|Microcephalic osteodysplastic primordial dwarfism type II [RCV001285165]|PCNT-related disorder [RCV003918819]|not provided [RCV001751544] Chr21:46416718 [GRCh38]
Chr21:47836632 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.3202G>T (p.Glu1068Ter) single nucleotide variant not provided [RCV001354523] Chr21:46381730 [GRCh38]
Chr21:47801645 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.8107C>T (p.Arg2703Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001374751]|not provided [RCV003770358] Chr21:46431571 [GRCh38]
Chr21:47851485 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.8326C>T (p.Gln2776Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001334492] Chr21:46431790 [GRCh38]
Chr21:47851704 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.268-193C>A single nucleotide variant not provided [RCV001539120] Chr21:46334204 [GRCh38]
Chr21:47754118 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4962+232C>T single nucleotide variant not provided [RCV001534247] Chr21:46401953 [GRCh38]
Chr21:47821867 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6921+218A>G single nucleotide variant not provided [RCV001534858] Chr21:46417057 [GRCh38]
Chr21:47836971 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1033-160C>G single nucleotide variant not provided [RCV001535026] Chr21:46348852 [GRCh38]
Chr21:47768766 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6412dup (p.Val2138fs) duplication Microcephalic osteodysplastic primordial dwarfism type II [RCV003147628]|not provided [RCV001381845] Chr21:46416329..46416330 [GRCh38]
Chr21:47836243..47836244 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_006031.6(PCNT):c.5994+46C>G single nucleotide variant not provided [RCV001549538] Chr21:46412113 [GRCh38]
Chr21:47832027 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4585-284T>G single nucleotide variant not provided [RCV001619300] Chr21:46399306 [GRCh38]
Chr21:47819220 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.4446+185G>A single nucleotide variant not provided [RCV001650370] Chr21:46397679 [GRCh38]
Chr21:47817593 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1680-234A>T single nucleotide variant not provided [RCV001654713] Chr21:46353753 [GRCh38]
Chr21:47773667 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1457-163G>A single nucleotide variant not provided [RCV001619588] Chr21:46352941 [GRCh38]
Chr21:47772855 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.7320+106_7320+107insCTTT insertion not provided [RCV001682299] Chr21:46426074..46426075 [GRCh38]
Chr21:47845988..47845989 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.7320+57T>C single nucleotide variant not provided [RCV001619241] Chr21:46426028 [GRCh38]
Chr21:47845942 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.4791+276A>G single nucleotide variant not provided [RCV001685232] Chr21:46400072 [GRCh38]
Chr21:47819986 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.5995-157C>T single nucleotide variant not provided [RCV001672189] Chr21:46412680 [GRCh38]
Chr21:47832594 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1680-271GT[19] microsatellite not provided [RCV001687828] Chr21:46353715..46353716 [GRCh38]
Chr21:47773629..47773630 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.1680-271GT[22] microsatellite not provided [RCV001672215] Chr21:46353715..46353716 [GRCh38]
Chr21:47773629..47773630 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.7690+50G>A single nucleotide variant not provided [RCV001716726] Chr21:46428640 [GRCh38]
Chr21:47848554 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.2609+86G>A single nucleotide variant not provided [RCV001592120] Chr21:46364020 [GRCh38]
Chr21:47783935 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.639+181C>A single nucleotide variant not provided [RCV001612469] Chr21:46334949 [GRCh38]
Chr21:47754863 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.9967+104T>G single nucleotide variant not provided [RCV001732709] Chr21:46444925 [GRCh38]
Chr21:47864838 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6858G>A (p.Ala2286=) single nucleotide variant PCNT-related disorder [RCV003919008]|not provided [RCV003108509] Chr21:46416776 [GRCh38]
Chr21:47836690 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1248T>C (p.Ile416=) single nucleotide variant PCNT-related disorder [RCV003900936]|not provided [RCV003108572] Chr21:46349724 [GRCh38]
Chr21:47769638 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7567G>A (p.Ala2523Thr) single nucleotide variant not provided [RCV003108714] Chr21:46428467 [GRCh38]
Chr21:47848381 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8168G>A (p.Arg2723His) single nucleotide variant PCNT-related disorder [RCV003906642]|not provided [RCV003108446] Chr21:46431632 [GRCh38]
Chr21:47851546 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:46922436-48097372)x3 copy number gain not provided [RCV001834168] Chr21:46922436..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.9:g.46324025C>T single nucleotide variant not provided [RCV001732557] Chr21:46324025 [GRCh38]
Chr21:47743939 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 copy number gain See cases [RCV001780078] Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3		 pathogenic
NM_006031.6(PCNT):c.5995-2A>C single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003444395]|not provided [RCV003661055] Chr21:46412835 [GRCh38]
Chr21:47832749 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.6974dup (p.Leu2325fs) duplication Microcephalic osteodysplastic primordial dwarfism type II [RCV001782581] Chr21:46418254..46418255 [GRCh38]
Chr21:47838168..47838169 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.7282G>T (p.Glu2428Ter) single nucleotide variant PCNT-related disorder [RCV004739192] Chr21:46425933 [GRCh38]
Chr21:47845847 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.7690+3G>C single nucleotide variant PCNT-related disorder [RCV004741066]|not provided [RCV001770926] Chr21:46428593 [GRCh38]
Chr21:47848507 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5881del (p.Val1961fs) deletion See cases [RCV002252801] Chr21:46411952 [GRCh38]
Chr21:47831866 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.9905C>T (p.Ser3302Phe) single nucleotide variant not provided [RCV001767040] Chr21:46444759 [GRCh38]
Chr21:47864672 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1490dup (p.Val498fs) duplication Microcephalic osteodysplastic primordial dwarfism type II [RCV001784804] Chr21:46353136..46353137 [GRCh38]
Chr21:47773050..47773051 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.7511del (p.Lys2504fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV001784810] Chr21:46428408 [GRCh38]
Chr21:47848322 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.6384_6385del (p.Thr2128_Cys2129insTer) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV005032740] Chr21:46416302..46416303 [GRCh38]
Chr21:47836216..47836217 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.1606G>A (p.Glu536Lys) single nucleotide variant not provided [RCV001767908] Chr21:46353253 [GRCh38]
Chr21:47773167 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7562T>C (p.Ile2521Thr) single nucleotide variant not provided [RCV001767472] Chr21:46428462 [GRCh38]
Chr21:47848376 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6884C>T (p.Pro2295Leu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003132533]|PCNT-related disorder [RCV003948710]|not provided [RCV001767909] Chr21:46416802 [GRCh38]
Chr21:47836716 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8209C>T (p.Arg2737Trp) single nucleotide variant Inborn genetic diseases [RCV004040094]|PCNT-related disorder [RCV003401678]|not provided [RCV001765037] Chr21:46431673 [GRCh38]
Chr21:47851587 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6922-4A>G single nucleotide variant PCNT-related disorder [RCV003394241]|not provided [RCV001765430] Chr21:46418200 [GRCh38]
Chr21:47838114 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7727G>A (p.Cys2576Tyr) single nucleotide variant not provided [RCV001765429] Chr21:46430046 [GRCh38]
Chr21:47849960 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8065-1G>C single nucleotide variant PCNT-related disorder [RCV003399607]|not provided [RCV003699080] Chr21:46431528 [GRCh38]
Chr21:47851442 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.6887C>T (p.Pro2296Leu) single nucleotide variant Inborn genetic diseases [RCV004040050]|PCNT-related disorder [RCV004728790]|not provided [RCV001754084] Chr21:46416805 [GRCh38]
Chr21:47836719 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.4442T>C (p.Met1481Thr) single nucleotide variant PCNT-related disorder [RCV003401695]|not provided [RCV001771315] Chr21:46397490 [GRCh38]
Chr21:47817404 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7977G>T (p.Gln2659His) single nucleotide variant not provided [RCV001771351] Chr21:46430570 [GRCh38]
Chr21:47850484 [GRCh37]
Chr21:21q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.3465-1G>C single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001784805] Chr21:46388741 [GRCh38]
Chr21:47808656 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.4655C>A (p.Ser1552Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001784806] Chr21:46399660 [GRCh38]
Chr21:47819574 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.8065-1G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001784807] Chr21:46431528 [GRCh38]
Chr21:47851442 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.9700+1G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001784808] Chr21:46442574 [GRCh38]
Chr21:47862487 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6:c.(6921+1_6922-1)_(7024+1_7025-1)del deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV001800249]   likely pathogenic
NM_006031.6(PCNT):c.5979_5981dup (p.Val1994dup) duplication not provided [RCV001787666] Chr21:46412049..46412050 [GRCh38]
Chr21:47831963..47831964 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5994+13dup duplication not provided [RCV002074283]|not specified [RCV001817408] Chr21:46412074..46412075 [GRCh38]
Chr21:47831988..47831989 [GRCh37]
Chr21:21q22.3		 benign|uncertain significance
NM_006031.6(PCNT):c.9363C>A (p.Ala3121=) single nucleotide variant PCNT-related disorder [RCV003913399]|not provided [RCV003718434]|not specified [RCV001817457] Chr21:46440172 [GRCh38]
Chr21:47860085 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9959TAC[1] (p.Leu3321del) microsatellite not specified [RCV001817269] Chr21:46444813..46444815 [GRCh38]
Chr21:47864726..47864728 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2272G>A (p.Glu758Lys) single nucleotide variant not specified [RCV001817335] Chr21:46363597 [GRCh38]
Chr21:47783512 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2681A>G (p.Gln894Arg) single nucleotide variant PCNT-related disorder [RCV003911039]|not specified [RCV001817667] Chr21:46366655 [GRCh38]
Chr21:47786570 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8731C>T (p.Gln2911Ter) single nucleotide variant not specified [RCV001817900] Chr21:46432195 [GRCh38]
Chr21:47852109 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7842_7843del (p.Cys2614_Glu2615delinsTer) microsatellite not provided [RCV001817976] Chr21:46430159..46430160 [GRCh38]
Chr21:47850073..47850074 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_006031.6(PCNT):c.3795G>A (p.Leu1265=) single nucleotide variant PCNT-related disorder [RCV003911041]|not provided [RCV002074379]|not specified [RCV001818084] Chr21:46389386 [GRCh38]
Chr21:47809301 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7045G>C (p.Ala2349Pro) single nucleotide variant Inborn genetic diseases [RCV004953112]|Microcephalic osteodysplastic primordial dwarfism type II [RCV002478067]|PCNT-related disorder [RCV003416484]|not provided [RCV003107858]|not specified [RCV001818088] Chr21:46421990 [GRCh38]
Chr21:47841904 [GRCh37]
Chr21:21q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.4411G>C (p.Asp1471His) single nucleotide variant not specified [RCV001819184] Chr21:46397459 [GRCh38]
Chr21:47817373 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5707_5708delinsTT (p.Arg1903Phe) indel not provided [RCV001885329]|not specified [RCV001819215] Chr21:46411780..46411781 [GRCh38]
Chr21:47831694..47831695 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4527G>A (p.Ala1509=) single nucleotide variant not provided [RCV003546721]|not specified [RCV001819338] Chr21:46398094 [GRCh38]
Chr21:47818008 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7632G>A (p.Thr2544=) single nucleotide variant PCNT-related disorder [RCV003913409]|not provided [RCV002545153]|not specified [RCV001820499] Chr21:46428532 [GRCh38]
Chr21:47848446 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.6281C>G (p.Thr2094Ser) single nucleotide variant not specified [RCV001820597] Chr21:46416199 [GRCh38]
Chr21:47836113 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5743G>A (p.Ala1915Thr) single nucleotide variant PCNT-related disorder [RCV003913395]|not provided [RCV002077276]|not specified [RCV001822254] Chr21:46411816 [GRCh38]
Chr21:47831730 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.9030A>G (p.Lys3010=) single nucleotide variant PCNT-related disorder [RCV003923323]|not provided [RCV002074268]|not specified [RCV001817131] Chr21:46437012 [GRCh38]
Chr21:47856925 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3223C>T (p.Leu1075Phe) single nucleotide variant not specified [RCV001817144] Chr21:46381751 [GRCh38]
Chr21:47801666 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3682A>T (p.Met1228Leu) single nucleotide variant not specified [RCV001817205] Chr21:46389273 [GRCh38]
Chr21:47809188 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1786G>A (p.Glu596Lys) single nucleotide variant not specified [RCV001817237] Chr21:46355476 [GRCh38]
Chr21:47775391 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3715C>T (p.Arg1239Cys) single nucleotide variant Inborn genetic diseases [RCV005382182]|PCNT-related disorder [RCV004741086]|not specified [RCV001817289] Chr21:46389306 [GRCh38]
Chr21:47809221 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.1208-8C>G single nucleotide variant not specified [RCV001817324] Chr21:46349676 [GRCh38]
Chr21:47769590 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9123G>A (p.Gln3041=) single nucleotide variant not provided [RCV003772289]|not specified [RCV001817325] Chr21:46438187 [GRCh38]
Chr21:47858100 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2602C>T (p.Arg868Trp) single nucleotide variant PCNT-related disorder [RCV003416474]|not specified [RCV001817398] Chr21:46363927 [GRCh38]
Chr21:47783842 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.979G>C (p.Glu327Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003132538]|not provided [RCV002541995]|not specified [RCV001817409] Chr21:46347459 [GRCh38]
Chr21:47767373 [GRCh37]
Chr21:21q22.3		 benign|uncertain significance
NM_006031.6(PCNT):c.4423C>T (p.Arg1475Cys) single nucleotide variant Inborn genetic diseases [RCV005382183]|PCNT-related disorder [RCV003416475]|not provided [RCV001869671]|not specified [RCV001817514] Chr21:46397471 [GRCh38]
Chr21:47817385 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7G>C (p.Val3Leu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001802282] Chr21:46324235 [GRCh38]
Chr21:47744149 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6631C>T (p.Pro2211Ser) single nucleotide variant PCNT-related disorder [RCV003401742]|not specified [RCV001818086] Chr21:46416549 [GRCh38]
Chr21:47836463 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6895G>A (p.Asp2299Asn) single nucleotide variant PCNT-related disorder [RCV003401743]|not provided [RCV001885360]|not specified [RCV001818087] Chr21:46416813 [GRCh38]
Chr21:47836727 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.1444C>T (p.Gln482Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001806300] Chr21:46351528 [GRCh38]
Chr21:47771442 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.7128G>T (p.Gln2376His) single nucleotide variant not specified [RCV001819181] Chr21:46422073 [GRCh38]
Chr21:47841987 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7950C>T (p.Ala2650=) single nucleotide variant PCNT-related disorder [RCV004741089]|not provided [RCV003565496]|not specified [RCV001819314] Chr21:46430543 [GRCh38]
Chr21:47850457 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.8537C>T (p.Thr2846Met) single nucleotide variant Inborn genetic diseases [RCV004953085]|PCNT-related disorder [RCV004741090]|not specified [RCV001819331] Chr21:46432001 [GRCh38]
Chr21:47851915 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4371G>A (p.Ala1457=) single nucleotide variant not provided [RCV003772299]|not specified [RCV001819371] Chr21:46397419 [GRCh38]
Chr21:47817333 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8835C>T (p.Asp2945=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV002503318]|PCNT-related disorder [RCV003941159]|not provided [RCV003718439]|not specified [RCV001820246] Chr21:46435987 [GRCh38]
Chr21:47855900 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9090C>T (p.Thr3030=) single nucleotide variant not provided [RCV002074324]|not specified [RCV001820271] Chr21:46437072 [GRCh38]
Chr21:47856985 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.268-5_268-3del microsatellite PCNT-related disorder [RCV003911033]|not provided [RCV002074328]|not specified [RCV001820324] Chr21:46334389..46334391 [GRCh38]
Chr21:47754303..47754305 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.1775G>A (p.Arg592His) single nucleotide variant PCNT-related disorder [RCV003941161]|not provided [RCV002542618]|not specified [RCV001820392] Chr21:46355465 [GRCh38]
Chr21:47775380 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.236C>T (p.Pro79Leu) single nucleotide variant Inborn genetic diseases [RCV004040985]|PCNT-related disorder [RCV004741092]|not provided [RCV002542619]|not specified [RCV001820401] Chr21:46326558 [GRCh38]
Chr21:47746472 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.1732G>T (p.Val578Phe) single nucleotide variant not specified [RCV001820431] Chr21:46354039 [GRCh38]
Chr21:47773953 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1732G>A (p.Val578Ile) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005038339]|PCNT-related disorder [RCV004741085]|not specified [RCV001822300] Chr21:46354039 [GRCh38]
Chr21:47773953 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4093C>T (p.Leu1365=) single nucleotide variant PCNT-related disorder [RCV003913397]|not provided [RCV003718431]|not specified [RCV001822315] Chr21:46391253 [GRCh38]
Chr21:47811168 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4004-2A>G single nucleotide variant not provided [RCV001822840] Chr21:46391162 [GRCh38]
Chr21:47811077 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.8290G>C (p.Glu2764Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001803619]|PCNT-related disorder [RCV004741079] Chr21:46431754 [GRCh38]
Chr21:47851668 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8578T>C (p.Ser2860Pro) single nucleotide variant not provided [RCV001863726] Chr21:46432042 [GRCh38]
Chr21:47851956 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7528C>T (p.Arg2510Cys) single nucleotide variant not provided [RCV001914626] Chr21:46428428 [GRCh38]
Chr21:47848342 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3557G>A (p.Arg1186His) single nucleotide variant not provided [RCV001988602] Chr21:46388834 [GRCh38]
Chr21:47808749 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7848C>T (p.Ser2616=) single nucleotide variant PCNT-related disorder [RCV004741184]|not provided [RCV002045292] Chr21:46430167 [GRCh38]
Chr21:47850081 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.6064G>A (p.Val2022Met) single nucleotide variant not provided [RCV001988727] Chr21:46412906 [GRCh38]
Chr21:47832820 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7316C>T (p.Thr2439Met) single nucleotide variant Inborn genetic diseases [RCV004955783]|PCNT-related disorder [RCV003401857]|not provided [RCV001915533] Chr21:46425967 [GRCh38]
Chr21:47845881 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_47848289)_(47865240_?)dup duplication not provided [RCV001987931] Chr21:47848289..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3730A>G (p.Met1244Val) single nucleotide variant Inborn genetic diseases [RCV002551023]|PCNT-related disorder [RCV004741111]|not provided [RCV001874350] Chr21:46389321 [GRCh38]
Chr21:47809236 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6404C>T (p.Thr2135Met) single nucleotide variant PCNT-related disorder [RCV003395266]|not provided [RCV001893020] Chr21:46416322 [GRCh38]
Chr21:47836236 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7657G>C (p.Gly2553Arg) single nucleotide variant Inborn genetic diseases [RCV004956116]|PCNT-related disorder [RCV004741183]|not provided [RCV002045168] Chr21:46428557 [GRCh38]
Chr21:47848471 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3085T>C (p.Ser1029Pro) single nucleotide variant not provided [RCV001874866] Chr21:46367059 [GRCh38]
Chr21:47786974 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5519G>A (p.Arg1840His) single nucleotide variant PCNT-related disorder [RCV003913452]|not provided [RCV001928922] Chr21:46411592 [GRCh38]
Chr21:47831506 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9838A>G (p.Arg3280Gly) single nucleotide variant not provided [RCV002023466] Chr21:46443947 [GRCh38]
Chr21:47863860 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9307A>T (p.Thr3103Ser) single nucleotide variant not provided [RCV002004372] Chr21:46440116 [GRCh38]
Chr21:47860029 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3130G>A (p.Gly1044Arg) single nucleotide variant not provided [RCV002044290] Chr21:46367104 [GRCh38]
Chr21:47787019 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5995-12_5995-4del microsatellite PCNT-related disorder [RCV003923345]|not provided [RCV001914507] Chr21:46412816..46412824 [GRCh38]
Chr21:47832730..47832738 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.591_629del (p.Ile197_Gly209del) deletion PCNT-related disorder [RCV004741153]|not provided [RCV001949809] Chr21:46334704..46334742 [GRCh38]
Chr21:47754618..47754656 [GRCh37]
Chr21:21q22.3		 benign|uncertain significance
NM_006031.6(PCNT):c.8622A>C (p.Glu2874Asp) single nucleotide variant not provided [RCV001971482] Chr21:46432086 [GRCh38]
Chr21:47852000 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_44838120)_(47865240_?)del deletion not provided [RCV001987971] Chr21:44838120..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6966A>G (p.Gln2322=) single nucleotide variant not provided [RCV001948384] Chr21:46418248 [GRCh38]
Chr21:47838162 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.4309A>C (p.Lys1437Gln) single nucleotide variant not provided [RCV002023683] Chr21:46397357 [GRCh38]
Chr21:47817271 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3263A>G (p.Lys1088Arg) single nucleotide variant PCNT-related disorder [RCV004741192]|not provided [RCV002023790] Chr21:46381791 [GRCh38]
Chr21:47801706 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5563C>T (p.Arg1855Trp) single nucleotide variant PCNT-related disorder [RCV003923351]|not provided [RCV001896175] Chr21:46411636 [GRCh38]
Chr21:47831550 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.767A>G (p.Asn256Ser) single nucleotide variant Inborn genetic diseases [RCV004953209]|not provided [RCV001930052] Chr21:46346789 [GRCh38]
Chr21:47766703 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9263G>A (p.Cys3088Tyr) single nucleotide variant not provided [RCV001965689] Chr21:46438327 [GRCh38]
Chr21:47858240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4962+3G>A single nucleotide variant not provided [RCV001928831] Chr21:46401724 [GRCh38]
Chr21:47821638 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.565G>T (p.Asp189Tyr) single nucleotide variant not provided [RCV002044729] Chr21:46334694 [GRCh38]
Chr21:47754608 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5578G>A (p.Glu1860Lys) single nucleotide variant not provided [RCV002005183]|not specified [RCV004770329] Chr21:46411651 [GRCh38]
Chr21:47831565 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6904G>A (p.Val2302Met) single nucleotide variant Inborn genetic diseases [RCV002545521]|PCNT-related disorder [RCV003426288]|not provided [RCV002040271] Chr21:46416822 [GRCh38]
Chr21:47836736 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4177G>A (p.Gly1393Arg) single nucleotide variant not provided [RCV001912899] Chr21:46391337 [GRCh38]
Chr21:47811252 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4535C>T (p.Pro1512Leu) single nucleotide variant Inborn genetic diseases [RCV004956023]|PCNT-related disorder [RCV004741172]|not provided [RCV001969179] Chr21:46398102 [GRCh38]
Chr21:47818016 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1918T>G (p.Ser640Ala) single nucleotide variant PCNT-related disorder [RCV004741146]|not provided [RCV001910318] Chr21:46355608 [GRCh38]
Chr21:47775523 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.406_444del (p.Gly136_Val148del) deletion PCNT-related disorder [RCV003941209]|not provided [RCV001964695] Chr21:46334519..46334557 [GRCh38]
Chr21:47754433..47754471 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4172G>A (p.Ser1391Asn) single nucleotide variant Inborn genetic diseases [RCV002545739]|PCNT-related disorder [RCV003968594]|not provided [RCV002039998] Chr21:46391332 [GRCh38]
Chr21:47811247 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9212G>A (p.Arg3071Lys) single nucleotide variant not provided [RCV001889914] Chr21:46438276 [GRCh38]
Chr21:47858189 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:47515748-47797894)x3 copy number gain not provided [RCV001829138] Chr21:47515748..47797894 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3481G>T (p.Ala1161Ser) single nucleotide variant not provided [RCV001912176] Chr21:46388758 [GRCh38]
Chr21:47808673 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7345T>A (p.Trp2449Arg) single nucleotide variant Inborn genetic diseases [RCV002558473]|PCNT-related disorder [RCV003426253]|not provided [RCV001926429] Chr21:46427646 [GRCh38]
Chr21:47847560 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5432G>A (p.Arg1811His) single nucleotide variant Inborn genetic diseases [RCV004656802]|PCNT-related disorder [RCV004741174]|not provided [RCV002008148] Chr21:46411505 [GRCh38]
Chr21:47831419 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.7271G>A (p.Arg2424Gln) single nucleotide variant not provided [RCV001909654]|not specified [RCV004690169] Chr21:46425922 [GRCh38]
Chr21:47845836 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7477A>G (p.Lys2493Glu) single nucleotide variant not provided [RCV002006426] Chr21:46427778 [GRCh38]
Chr21:47847692 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8711C>T (p.Ala2904Val) single nucleotide variant not provided [RCV001913677] Chr21:46432175 [GRCh38]
Chr21:47852089 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.776C>T (p.Thr259Met) single nucleotide variant Inborn genetic diseases [RCV004044192]|PCNT-related disorder [RCV003395291]|not provided [RCV001926535] Chr21:46346798 [GRCh38]
Chr21:47766712 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3857A>G (p.Gln1286Arg) single nucleotide variant not provided [RCV002023055] Chr21:46390686 [GRCh38]
Chr21:47810601 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7058C>G (p.Pro2353Arg) single nucleotide variant Inborn genetic diseases [RCV002545762]|PCNT-related disorder [RCV003416500]|not provided [RCV001863441] Chr21:46422003 [GRCh38]
Chr21:47841917 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372) copy number gain not specified [RCV002052725] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_006031.6(PCNT):c.7689G>T (p.Gln2563His) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV002507001]|not provided [RCV001913316] Chr21:46428589 [GRCh38]
Chr21:47848503 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7558G>A (p.Glu2520Lys) single nucleotide variant Inborn genetic diseases [RCV004040446]|PCNT-related disorder [RCV003407866]|not provided [RCV001894688] Chr21:46428458 [GRCh38]
Chr21:47848372 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8243C>T (p.Ala2748Val) single nucleotide variant Inborn genetic diseases [RCV004045334]|PCNT-related disorder [RCV003418296]|not provided [RCV001986164] Chr21:46431707 [GRCh38]
Chr21:47851621 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1018G>A (p.Ala340Thr) single nucleotide variant not provided [RCV001894723] Chr21:46347498 [GRCh38]
Chr21:47767412 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4459G>A (p.Glu1487Lys) single nucleotide variant not provided [RCV002022447] Chr21:46398026 [GRCh38]
Chr21:47817940 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4201G>A (p.Glu1401Lys) single nucleotide variant Inborn genetic diseases [RCV004039163]|PCNT-related disorder [RCV003416548]|not provided [RCV001892920] Chr21:46391361 [GRCh38]
Chr21:47811276 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9553G>A (p.Glu3185Lys) single nucleotide variant PCNT-related disorder [RCV003416641]|not provided [RCV001987357] Chr21:46441014 [GRCh38]
Chr21:47860927 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372) copy number gain not specified [RCV002052723] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372) copy number gain not specified [RCV002052724] Chr21:15041209..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_006031.6(PCNT):c.5350C>T (p.Arg1784Cys) single nucleotide variant not provided [RCV001872731] Chr21:46411423 [GRCh38]
Chr21:47831337 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_43160998)_(47865240_?)dup duplication Cataract 9 multiple types [RCV001913783]|Developmental and epileptic encephalopathy, 30 [RCV003120744]|Primary ciliary dyskinesia [RCV001913782] Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372) copy number loss not specified [RCV002052739] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:47749290-48048086) copy number loss not specified [RCV002052745] Chr21:47749290..48048086 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7951G>A (p.Ala2651Thr) single nucleotide variant Inborn genetic diseases [RCV004046848]|not provided [RCV002023413] Chr21:46430544 [GRCh38]
Chr21:47850458 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV001829203] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_006031.6(PCNT):c.9539T>G (p.Phe3180Cys) single nucleotide variant PCNT-related disorder [RCV003893085]|not provided [RCV002023480] Chr21:46441000 [GRCh38]
Chr21:47860913 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1833C>T (p.Pro611=) single nucleotide variant not provided [RCV003852751] Chr21:46355523 [GRCh38]
Chr21:47775438 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4264A>G (p.Arg1422Gly) single nucleotide variant Inborn genetic diseases [RCV004041544]|PCNT-related disorder [RCV003892929]|not provided [RCV001927533] Chr21:46397312 [GRCh38]
Chr21:47817226 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_45919666)_(47865240_?)del deletion not provided [RCV001947021] Chr21:45919666..47865240 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.1762-14_1762-13insTAGT insertion not provided [RCV002043562] Chr21:46355436..46355437 [GRCh38]
Chr21:47775351..47775352 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.505_506insATGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGC (p.Gln168_Arg169insHisGlyMetPheThrValSerAspHisProProGluGlnArgGlyMetPheThrValSerAspHisProProGluGln) insertion not provided [RCV001984721] Chr21:46334627..46334628 [GRCh38]
Chr21:47754541..47754542 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2522G>A (p.Arg841Gln) single nucleotide variant Inborn genetic diseases [RCV004043571]|not provided [RCV001948112] Chr21:46363847 [GRCh38]
Chr21:47783762 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:45773272-48097372) copy number loss not specified [RCV002052744] Chr21:45773272..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.5175A>G (p.Gln1725=) single nucleotide variant PCNT-related disorder [RCV003976238]|not provided [RCV002039631] Chr21:46411248 [GRCh38]
Chr21:47831162 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.2179C>G (p.His727Asp) single nucleotide variant Vascular dementia [RCV002051772] Chr21:46363504 [GRCh38]
Chr21:47783419 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3157G>A (p.Val1053Met) single nucleotide variant not provided [RCV002020827] Chr21:46367131 [GRCh38]
Chr21:47787046 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7298C>T (p.Ser2433Leu) single nucleotide variant Inborn genetic diseases [RCV003348601]|Microcephalic osteodysplastic primordial dwarfism type II [RCV003130591]|PCNT-related disorder [RCV004741135]|not provided [RCV001901714] Chr21:46425949 [GRCh38]
Chr21:47845863 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.976+4C>G single nucleotide variant not provided [RCV001888038] Chr21:46347002 [GRCh38]
Chr21:47766916 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6150+48_6150+49insTGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACA microsatellite not provided [RCV001991054] Chr21:46413003..46413004 [GRCh38]
Chr21:47832917..47832918 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.5704C>T (p.Arg1902Cys) single nucleotide variant PCNT-related disorder [RCV003401922]|not provided [RCV001941234] Chr21:46411777 [GRCh38]
Chr21:47831691 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7151A>G (p.Glu2384Gly) single nucleotide variant not provided [RCV001943121] Chr21:46422096 [GRCh38]
Chr21:47842010 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9751C>T (p.Pro3251Ser) single nucleotide variant not provided [RCV001888503] Chr21:46443860 [GRCh38]
Chr21:47863773 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2645T>G (p.Phe882Cys) single nucleotide variant PCNT-related disorder [RCV003893033]|not provided [RCV001961492] Chr21:46366619 [GRCh38]
Chr21:47786534 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2451G>T (p.Gln817His) single nucleotide variant not provided [RCV002036789] Chr21:46363776 [GRCh38]
Chr21:47783691 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3019_3020del (p.Leu1007fs) microsatellite Microcephalic osteodysplastic primordial dwarfism type II [RCV005032007]|not provided [RCV001942266] Chr21:46366989..46366990 [GRCh38]
Chr21:47786904..47786905 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.2716G>A (p.Glu906Lys) single nucleotide variant not provided [RCV001938457] Chr21:46366690 [GRCh38]
Chr21:47786605 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8453C>A (p.Ser2818Tyr) single nucleotide variant not provided [RCV001888559] Chr21:46431917 [GRCh38]
Chr21:47851831 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8071C>T (p.Arg2691Trp) single nucleotide variant not provided [RCV002011812] Chr21:46431535 [GRCh38]
Chr21:47851449 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2872G>A (p.Gly958Ser) single nucleotide variant PCNT-related disorder [RCV003984145]|not provided [RCV001919429] Chr21:46366846 [GRCh38]
Chr21:47786761 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2567T>G (p.Val856Gly) single nucleotide variant not provided [RCV001959301] Chr21:46363892 [GRCh38]
Chr21:47783807 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8953G>C (p.Ala2985Pro) single nucleotide variant PCNT-related disorder [RCV004741152]|not provided [RCV001924254] Chr21:46436105 [GRCh38]
Chr21:47856018 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8188G>A (p.Glu2730Lys) single nucleotide variant not provided [RCV001935597] Chr21:46431652 [GRCh38]
Chr21:47851566 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_46306283)_(47865240_?)del deletion not provided [RCV001943317] Chr21:46306283..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6935A>C (p.Glu2312Ala) single nucleotide variant not provided [RCV002009501] Chr21:46418217 [GRCh38]
Chr21:47838131 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8905C>T (p.Arg2969Trp) single nucleotide variant Inborn genetic diseases [RCV003166955]|PCNT-related disorder [RCV004741126]|not provided [RCV001886852] Chr21:46436057 [GRCh38]
Chr21:47855970 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5791C>T (p.Arg1931Cys) single nucleotide variant not provided [RCV001937859] Chr21:46411864 [GRCh38]
Chr21:47831778 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5425C>G (p.Gln1809Glu) single nucleotide variant PCNT-related disorder [RCV003407903]|not provided [RCV001884644] Chr21:46411498 [GRCh38]
Chr21:47831412 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1519C>T (p.Arg507Ter) single nucleotide variant PCNT-related disorder [RCV004728989]|not provided [RCV001941552] Chr21:46353166 [GRCh38]
Chr21:47773080 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_006031.6(PCNT):c.5737G>A (p.Gly1913Arg) single nucleotide variant not provided [RCV001906182] Chr21:46411810 [GRCh38]
Chr21:47831724 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6412G>A (p.Val2138Ile) single nucleotide variant not provided [RCV001961644] Chr21:46416330 [GRCh38]
Chr21:47836244 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.451_452insTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCA (p.His151delinsLeuGlyCysSerGlnSerValThrThrHisGlnAsnSerAsn) insertion not provided [RCV001923772] Chr21:46334580..46334581 [GRCh38]
Chr21:47754494..47754495 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.863G>A (p.Arg288His) single nucleotide variant Inborn genetic diseases [RCV004043676]|PCNT-related disorder [RCV004741162]|not provided [RCV001981757] Chr21:46346885 [GRCh38]
Chr21:47766799 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.4045G>A (p.Glu1349Lys) single nucleotide variant not provided [RCV002015404] Chr21:46391205 [GRCh38]
Chr21:47811120 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4571C>T (p.Pro1524Leu) single nucleotide variant not provided [RCV001960292] Chr21:46398242 [GRCh38]
Chr21:47818156 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_43160998)_(47865240_?)del deletion HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV001956307] Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.8064+6_8064+7del deletion PCNT-related disorder [RCV004741150]|not provided [RCV001921701] Chr21:46430663..46430664 [GRCh38]
Chr21:47850577..47850578 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.3091C>G (p.Arg1031Gly) single nucleotide variant not provided [RCV001954164] Chr21:46367065 [GRCh38]
Chr21:47786980 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8884G>A (p.Gly2962Ser) single nucleotide variant not provided [RCV001904413] Chr21:46436036 [GRCh38]
Chr21:47855949 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6977G>A (p.Ser2326Asn) single nucleotide variant Inborn genetic diseases [RCV004038834]|not provided [RCV002046854] Chr21:46418259 [GRCh38]
Chr21:47838173 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3358C>T (p.Arg1120Cys) single nucleotide variant not provided [RCV001974135] Chr21:46385877 [GRCh38]
Chr21:47805792 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8888C>T (p.Ser2963Leu) single nucleotide variant PCNT-related disorder [RCV003893003]|not provided [RCV002011877] Chr21:46436040 [GRCh38]
Chr21:47855953 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1820C>T (p.Ala607Val) single nucleotide variant PCNT-related disorder [RCV003401931]|not provided [RCV001957721] Chr21:46355510 [GRCh38]
Chr21:47775425 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8544del (p.Ala2849fs) deletion PCNT-related disorder [RCV003407952]|not provided [RCV001952023] Chr21:46432007 [GRCh38]
Chr21:47851921 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_006031.6(PCNT):c.3897T>A (p.Asn1299Lys) single nucleotide variant not provided [RCV001879060] Chr21:46390726 [GRCh38]
Chr21:47810641 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8770C>T (p.Arg2924Cys) single nucleotide variant not provided [RCV001955901] Chr21:46435922 [GRCh38]
Chr21:47855835 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2488T>A (p.Ser830Thr) single nucleotide variant PCNT-related disorder [RCV004741188]|not provided [RCV002013416] Chr21:46363813 [GRCh38]
Chr21:47783728 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3854G>A (p.Arg1285His) single nucleotide variant not provided [RCV002010792] Chr21:46390683 [GRCh38]
Chr21:47810598 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5710G>T (p.Ala1904Ser) single nucleotide variant not provided [RCV002047268] Chr21:46411783 [GRCh38]
Chr21:47831697 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.483_484insGGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGTC (p.Val161_Ser162insGlyAspHisProProGluGlnArgGlyMetPheThrVal) insertion not provided [RCV001918245] Chr21:46334596..46334597 [GRCh38]
Chr21:47754510..47754511 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_47699887)_(47787074_?)del deletion not provided [RCV001950992] Chr21:47699887..47787074 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.4519C>T (p.Arg1507Cys) single nucleotide variant not provided [RCV002046102] Chr21:46398086 [GRCh38]
Chr21:47818000 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3313C>T (p.Leu1105=) single nucleotide variant Inborn genetic diseases [RCV004953270]|PCNT-related disorder [RCV003941188]|not provided [RCV001922073] Chr21:46385832 [GRCh38]
Chr21:47805747 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.3133A>G (p.Thr1045Ala) single nucleotide variant not provided [RCV001897321] Chr21:46367107 [GRCh38]
Chr21:47787022 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3853C>T (p.Arg1285Cys) single nucleotide variant Inborn genetic diseases [RCV004953128]|PCNT-related disorder [RCV003416492]|not provided [RCV002050037] Chr21:46390682 [GRCh38]
Chr21:47810597 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.622C>T (p.Arg208Cys) single nucleotide variant PCNT-related disorder [RCV003395260]|not provided [RCV001875447] Chr21:46334751 [GRCh38]
Chr21:47754665 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1000T>A (p.Ser334Thr) single nucleotide variant not provided [RCV001865143] Chr21:46347480 [GRCh38]
Chr21:47767394 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5038A>T (p.Asn1680Tyr) single nucleotide variant not provided [RCV001956785] Chr21:46402406 [GRCh38]
Chr21:47822320 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6844G>A (p.Val2282Met) single nucleotide variant PCNT-related disorder [RCV004741190]|not provided [RCV002016628] Chr21:46416762 [GRCh38]
Chr21:47836676 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3611C>T (p.Pro1204Leu) single nucleotide variant Inborn genetic diseases [RCV002555389]|PCNT-related disorder [RCV004741136]|not provided [RCV001903543] Chr21:46389202 [GRCh38]
Chr21:47809117 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9133G>T (p.Val3045Leu) single nucleotide variant not provided [RCV002046586] Chr21:46438197 [GRCh38]
Chr21:47858110 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3971C>T (p.Ala1324Val) single nucleotide variant not provided [RCV001921645] Chr21:46390800 [GRCh38]
Chr21:47810715 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3339T>G (p.Ser1113Arg) single nucleotide variant not provided [RCV002029254] Chr21:46385858 [GRCh38]
Chr21:47805773 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9649C>G (p.Gln3217Glu) single nucleotide variant PCNT-related disorder [RCV004741198]|not provided [RCV002036612] Chr21:46442522 [GRCh38]
Chr21:47862435 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4684G>C (p.Glu1562Gln) single nucleotide variant not provided [RCV002010209] Chr21:46399689 [GRCh38]
Chr21:47819603 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1828T>C (p.Ser610Pro) single nucleotide variant PCNT-related disorder [RCV004741149]|not provided [RCV001921410] Chr21:46355518 [GRCh38]
Chr21:47775433 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2154G>A (p.Lys718=) single nucleotide variant PCNT-related disorder [RCV003913490]|not provided [RCV002034203] Chr21:46357191 [GRCh38]
Chr21:47777106 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.7255G>A (p.Glu2419Lys) single nucleotide variant PCNT-related disorder [RCV004741176]|not provided [RCV002018782] Chr21:46425906 [GRCh38]
Chr21:47845820 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6458A>G (p.Asn2153Ser) single nucleotide variant Inborn genetic diseases [RCV002563412]|Microcephalic osteodysplastic primordial dwarfism type II [RCV003611564]|PCNT-related disorder [RCV004741159]|not provided [RCV001960279] Chr21:46416376 [GRCh38]
Chr21:47836290 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.8386GAG[1] (p.Glu2797del) microsatellite PCNT-related disorder [RCV004741175]|not provided [RCV001998213] Chr21:46431848..46431850 [GRCh38]
Chr21:47851762..47851764 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5819T>C (p.Phe1940Ser) single nucleotide variant not provided [RCV001931184] Chr21:46411892 [GRCh38]
Chr21:47831806 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.924G>C (p.Glu308Asp) single nucleotide variant PCNT-related disorder [RCV003394290]|not provided [RCV002046926] Chr21:46346946 [GRCh38]
Chr21:47766860 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2119C>G (p.Gln707Glu) single nucleotide variant not provided [RCV001976935] Chr21:46357156 [GRCh38]
Chr21:47777071 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1550dup (p.Gln518fs) duplication not provided [RCV001903964] Chr21:46353196..46353197 [GRCh38]
Chr21:47773110..47773111 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.406_483del (p.Gly136_Val161del) deletion not provided [RCV002019487] Chr21:46334479..46334556 [GRCh38]
Chr21:47754393..47754470 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.468T>A (p.His156Gln) single nucleotide variant not provided [RCV001876564] Chr21:46334597 [GRCh38]
Chr21:47754511 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_44473990)_(47865240_?)dup duplication not provided [RCV002011965] Chr21:44473990..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6150+6G>A single nucleotide variant not provided [RCV002031099] Chr21:46412998 [GRCh38]
Chr21:47832912 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3740A>G (p.Glu1247Gly) single nucleotide variant Inborn genetic diseases [RCV002558483]|PCNT-related disorder [RCV004741148]|not provided [RCV001954792] Chr21:46389331 [GRCh38]
Chr21:47809246 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3411C>T (p.Gly1137=) single nucleotide variant PCNT-related disorder [RCV003941248]|not provided [RCV002009500] Chr21:46385930 [GRCh38]
Chr21:47805845 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.6203C>G (p.Ala2068Gly) single nucleotide variant not provided [RCV001995988] Chr21:46416121 [GRCh38]
Chr21:47836035 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5492C>T (p.Ala1831Val) single nucleotide variant Inborn genetic diseases [RCV004042576]|PCNT-related disorder [RCV003968625]|not provided [RCV001925331] Chr21:46411565 [GRCh38]
Chr21:47831479 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6044A>G (p.Lys2015Arg) single nucleotide variant PCNT-related disorder [RCV004728864]|not provided [RCV001899757] Chr21:46412886 [GRCh38]
Chr21:47832800 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4821G>T (p.Met1607Ile) single nucleotide variant not provided [RCV001903200] Chr21:46401580 [GRCh38]
Chr21:47821494 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6730G>A (p.Val2244Met) single nucleotide variant PCNT-related disorder [RCV004741195]|not provided [RCV002036397] Chr21:46416648 [GRCh38]
Chr21:47836562 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1490G>A (p.Arg497His) single nucleotide variant PCNT-related disorder [RCV004741191]|not provided [RCV002026328] Chr21:46353137 [GRCh38]
Chr21:47773051 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7026dup (p.Asp2343Ter) duplication not provided [RCV001958922] Chr21:46421970..46421971 [GRCh38]
Chr21:47841884..47841885 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.7252G>A (p.Gly2418Ser) single nucleotide variant PCNT-related disorder [RCV003401805]|not provided [RCV001877151] Chr21:46425903 [GRCh38]
Chr21:47845817 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8431G>T (p.Val2811Leu) single nucleotide variant PCNT-related disorder [RCV003408071]|not provided [RCV002029135] Chr21:46431895 [GRCh38]
Chr21:47851809 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8957C>T (p.Ala2986Val) single nucleotide variant PCNT-related disorder [RCV004741151]|not provided [RCV001957328] Chr21:46436109 [GRCh38]
Chr21:47856022 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7016G>A (p.Ser2339Asn) single nucleotide variant not provided [RCV001906786] Chr21:46418298 [GRCh38]
Chr21:47838212 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7111A>G (p.Ile2371Val) single nucleotide variant not provided [RCV001934774] Chr21:46422056 [GRCh38]
Chr21:47841970 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2516G>T (p.Cys839Phe) single nucleotide variant Inborn genetic diseases [RCV003167386]|not provided [RCV001974526] Chr21:46363841 [GRCh38]
Chr21:47783756 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9758G>C (p.Arg3253Pro) single nucleotide variant not provided [RCV001919187] Chr21:46443867 [GRCh38]
Chr21:47863780 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.428_466dup (p.Arg143_Gln155dup) duplication Microcephalic osteodysplastic primordial dwarfism type II [RCV003339822]|PCNT-related disorder [RCV003401885]|not provided [RCV001938263] Chr21:46334535..46334536 [GRCh38]
Chr21:47754449..47754450 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1241C>T (p.Ala414Val) single nucleotide variant not provided [RCV002047757] Chr21:46349717 [GRCh38]
Chr21:47769631 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2615T>C (p.Leu872Ser) single nucleotide variant PCNT-related disorder [RCV004741173]|not provided [RCV001995346] Chr21:46366589 [GRCh38]
Chr21:47786504 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1538A>T (p.Glu513Val) single nucleotide variant not provided [RCV001961102] Chr21:46353185 [GRCh38]
Chr21:47773099 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7573C>T (p.Arg2525Cys) single nucleotide variant not provided [RCV001973702] Chr21:46428473 [GRCh38]
Chr21:47848387 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6733A>T (p.Thr2245Ser) single nucleotide variant not provided [RCV002017440] Chr21:46416651 [GRCh38]
Chr21:47836565 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6077G>A (p.Cys2026Tyr) single nucleotide variant not provided [RCV001959281] Chr21:46412919 [GRCh38]
Chr21:47832833 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3463A>C (p.Arg1155=) single nucleotide variant not provided [RCV001885726] Chr21:46385982 [GRCh38]
Chr21:47805897 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7236C>T (p.Gly2412=) single nucleotide variant not provided [RCV002036142] Chr21:46425887 [GRCh38]
Chr21:47845801 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.4424G>A (p.Arg1475His) single nucleotide variant Inborn genetic diseases [RCV004955971]|not provided [RCV001979705] Chr21:46397472 [GRCh38]
Chr21:47817386 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.91A>G (p.Ser31Gly) single nucleotide variant not provided [RCV002018178] Chr21:46326413 [GRCh38]
Chr21:47746327 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1032+6C>T single nucleotide variant PCNT-related disorder [RCV003923407]|not provided [RCV002018414] Chr21:46347518 [GRCh38]
Chr21:47767432 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.6425T>C (p.Ile2142Thr) single nucleotide variant Inborn genetic diseases [RCV005382243]|PCNT-related disorder [RCV003416554]|not provided [RCV001884998] Chr21:46416343 [GRCh38]
Chr21:47836257 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8679G>C (p.Arg2893Ser) single nucleotide variant not provided [RCV002029639] Chr21:46432143 [GRCh38]
Chr21:47852057 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1180A>G (p.Ile394Val) single nucleotide variant not provided [RCV001981165] Chr21:46349159 [GRCh38]
Chr21:47769073 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1637del (p.Gln546fs) deletion not provided [RCV001960471] Chr21:46353284 [GRCh38]
Chr21:47773198 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.9173C>T (p.Ala3058Val) single nucleotide variant Inborn genetic diseases [RCV004956049]|not provided [RCV001998571] Chr21:46438237 [GRCh38]
Chr21:47858150 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1996C>T (p.Arg666Trp) single nucleotide variant Inborn genetic diseases [RCV003164256]|PCNT-related disorder [RCV004741121]|not provided [RCV001881048] Chr21:46357033 [GRCh38]
Chr21:47776948 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2282G>A (p.Arg761Gln) single nucleotide variant PCNT-related disorder [RCV003407991]|not provided [RCV001955577] Chr21:46363607 [GRCh38]
Chr21:47783522 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5708G>A (p.Arg1903His) single nucleotide variant Inborn genetic diseases [RCV003289380]|not provided [RCV002047944] Chr21:46411781 [GRCh38]
Chr21:47831695 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.2556_2559delinsCTTT (p.Ala853Phe) indel PCNT-related disorder [RCV003407947]|not provided [RCV001933256] Chr21:46363881..46363884 [GRCh38]
Chr21:47783796..47783799 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.430G>A (p.Gly144Arg) single nucleotide variant not provided [RCV002012502] Chr21:46334559 [GRCh38]
Chr21:47754473 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_47690295)_(47856081_?)dup duplication not provided [RCV001920646] Chr21:47690295..47856081 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6124C>T (p.Arg2042Cys) single nucleotide variant Inborn genetic diseases [RCV004039593]|not provided [RCV001880485] Chr21:46412966 [GRCh38]
Chr21:47832880 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8106T>A (p.Ser2702Arg) single nucleotide variant PCNT-related disorder [RCV004741171]|not provided [RCV001990464] Chr21:46431570 [GRCh38]
Chr21:47851484 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3617T>G (p.Leu1206Arg) single nucleotide variant not provided [RCV001958353] Chr21:46389208 [GRCh38]
Chr21:47809123 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9593C>T (p.Thr3198Met) single nucleotide variant PCNT-related disorder [RCV004741116]|not provided [RCV001879367] Chr21:46441054 [GRCh38]
Chr21:47860967 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5392G>A (p.Ala1798Thr) single nucleotide variant not provided [RCV001902987] Chr21:46411465 [GRCh38]
Chr21:47831379 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6421G>T (p.Val2141Phe) single nucleotide variant not provided [RCV002017119] Chr21:46416339 [GRCh38]
Chr21:47836253 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2980C>T (p.Arg994Ter) single nucleotide variant not provided [RCV001993308] Chr21:46366954 [GRCh38]
Chr21:47786869 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.517A>G (p.Thr173Ala) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV004720349]|PCNT-related disorder [RCV003911135]|not provided [RCV001979512] Chr21:46334646 [GRCh38]
Chr21:47754560 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.8752-8A>G single nucleotide variant not provided [RCV002190276] Chr21:46435896 [GRCh38]
Chr21:47855809 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4585-10G>C single nucleotide variant not provided [RCV002089247] Chr21:46399580 [GRCh38]
Chr21:47819494 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4377C>T (p.Ala1459=) single nucleotide variant PCNT-related disorder [RCV003895824]|not provided [RCV002146810] Chr21:46397425 [GRCh38]
Chr21:47817339 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8712G>A (p.Ala2904=) single nucleotide variant PCNT-related disorder [RCV003941305]|not provided [RCV002165126] Chr21:46432176 [GRCh38]
Chr21:47852090 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4785G>A (p.Leu1595=) single nucleotide variant not provided [RCV002147218] Chr21:46399790 [GRCh38]
Chr21:47819704 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6111G>A (p.Val2037=) single nucleotide variant not provided [RCV002087741] Chr21:46412953 [GRCh38]
Chr21:47832867 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2454G>A (p.Gln818=) single nucleotide variant PCNT-related disorder [RCV004741208]|not provided [RCV002169509] Chr21:46363779 [GRCh38]
Chr21:47783694 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.513_590del (p.Met171_Gly196del) deletion PCNT-related disorder [RCV003978833]|not provided [RCV002126131] Chr21:46334623..46334700 [GRCh38]
Chr21:47754537..47754614 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.5376C>T (p.Leu1792=) single nucleotide variant PCNT-related disorder [RCV004741203]|not provided [RCV002072668] Chr21:46411449 [GRCh38]
Chr21:47831363 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8244G>A (p.Ala2748=) single nucleotide variant PCNT-related disorder [RCV004741251]|not provided [RCV002146623] Chr21:46431708 [GRCh38]
Chr21:47851622 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2439C>T (p.Ser813=) single nucleotide variant PCNT-related disorder [RCV003941334]|not provided [RCV002185381] Chr21:46363764 [GRCh38]
Chr21:47783679 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6150+8G>A single nucleotide variant PCNT-related disorder [RCV004741222]|not provided [RCV002088760] Chr21:46413000 [GRCh38]
Chr21:47832914 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9393+17G>A single nucleotide variant not provided [RCV002148828] Chr21:46440219 [GRCh38]
Chr21:47860132 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.520_558del (p.Ile174_Thr186del) deletion not provided [RCV002145322] Chr21:46334628..46334666 [GRCh38]
Chr21:47754542..47754580 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8718G>A (p.Gln2906=) single nucleotide variant PCNT-related disorder [RCV004729072]|not provided [RCV002206084] Chr21:46432182 [GRCh38]
Chr21:47852096 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.780G>T (p.Ala260=) single nucleotide variant not provided [RCV002207466] Chr21:46346802 [GRCh38]
Chr21:47766716 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7755G>A (p.Leu2585=) single nucleotide variant PCNT-related disorder [RCV003911287]|not provided [RCV002205254] Chr21:46430074 [GRCh38]
Chr21:47849988 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.54+9T>A single nucleotide variant PCNT-related disorder [RCV003923624]|not provided [RCV002129471] Chr21:46324291 [GRCh38]
Chr21:47744205 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4386C>T (p.Ala1462=) single nucleotide variant not provided [RCV002189662] Chr21:46397434 [GRCh38]
Chr21:47817348 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.977-4G>T single nucleotide variant not provided [RCV002088012] Chr21:46347453 [GRCh38]
Chr21:47767367 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2637C>T (p.Thr879=) single nucleotide variant PCNT-related disorder [RCV003903544]|not provided [RCV002146146] Chr21:46366611 [GRCh38]
Chr21:47786526 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.420A>G (p.Pro140=) single nucleotide variant not provided [RCV002109536] Chr21:46334549 [GRCh38]
Chr21:47754463 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6150+11_6150+70del deletion not provided [RCV002191256] Chr21:46412988..46413047 [GRCh38]
Chr21:47832902..47832961 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6894C>T (p.Asp2298=) single nucleotide variant not provided [RCV002188295] Chr21:46416812 [GRCh38]
Chr21:47836726 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5661C>T (p.His1887=) single nucleotide variant not provided [RCV002185935] Chr21:46411734 [GRCh38]
Chr21:47831648 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4104G>C (p.Leu1368=) single nucleotide variant not provided [RCV002078231] Chr21:46391264 [GRCh38]
Chr21:47811179 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5547C>A (p.Val1849=) single nucleotide variant PCNT-related disorder [RCV004741240]|not provided [RCV002173754] Chr21:46411620 [GRCh38]
Chr21:47831534 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5976G>A (p.Pro1992=) single nucleotide variant PCNT-related disorder [RCV003958886]|not provided [RCV002134385] Chr21:46412049 [GRCh38]
Chr21:47831963 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5757G>T (p.Leu1919=) single nucleotide variant not provided [RCV002212153] Chr21:46411830 [GRCh38]
Chr21:47831744 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1762-16C>T single nucleotide variant not provided [RCV002149570] Chr21:46355436 [GRCh38]
Chr21:47775351 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.459A>G (p.Pro153=) single nucleotide variant PCNT-related disorder [RCV003933385]|not provided [RCV002091381] Chr21:46334588 [GRCh38]
Chr21:47754502 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5493G>A (p.Ala1831=) single nucleotide variant PCNT-related disorder [RCV003911295]|not provided [RCV002214979] Chr21:46411566 [GRCh38]
Chr21:47831480 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8751+16C>T single nucleotide variant not provided [RCV002151145] Chr21:46432231 [GRCh38]
Chr21:47852145 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.903C>T (p.His301=) single nucleotide variant PCNT-related disorder [RCV003911236]|not provided [RCV002187517] Chr21:46346925 [GRCh38]
Chr21:47766839 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9800G>A (p.Arg3267His) single nucleotide variant PCNT-related disorder [RCV003408107]|not provided [RCV002170799] Chr21:46443909 [GRCh38]
Chr21:47863822 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.3168T>G (p.Gly1056=) single nucleotide variant not provided [RCV002077477] Chr21:46381696 [GRCh38]
Chr21:47801611 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3963A>C (p.Ala1321=) single nucleotide variant not provided [RCV002208552] Chr21:46390792 [GRCh38]
Chr21:47810707 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4557C>T (p.Asp1519=) single nucleotide variant PCNT-related disorder [RCV004741209]|not provided [RCV002169838] Chr21:46398124 [GRCh38]
Chr21:47818038 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7179+17C>T single nucleotide variant not provided [RCV002151672] Chr21:46422141 [GRCh38]
Chr21:47842055 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6270T>C (p.Asp2090=) single nucleotide variant not provided [RCV002174008] Chr21:46416188 [GRCh38]
Chr21:47836102 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5283C>T (p.His1761=) single nucleotide variant not provided [RCV002172888] Chr21:46411356 [GRCh38]
Chr21:47831270 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3464+14C>T single nucleotide variant not provided [RCV002150961] Chr21:46385997 [GRCh38]
Chr21:47805912 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8751+9C>T single nucleotide variant PCNT-related disorder [RCV003933328]|not provided [RCV002212630] Chr21:46432224 [GRCh38]
Chr21:47852138 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8925G>A (p.Leu2975=) single nucleotide variant not provided [RCV002079928] Chr21:46436077 [GRCh38]
Chr21:47855990 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8496G>A (p.Ala2832=) single nucleotide variant not provided [RCV002153342] Chr21:46431960 [GRCh38]
Chr21:47851874 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3144C>T (p.His1048=) single nucleotide variant PCNT-related disorder [RCV003923716]|not provided [RCV002094151] Chr21:46367118 [GRCh38]
Chr21:47787033 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1456+16G>A single nucleotide variant not provided [RCV002186033] Chr21:46351556 [GRCh38]
Chr21:47771470 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7335G>A (p.Ala2445=) single nucleotide variant PCNT-related disorder [RCV003933348]|not provided [RCV002205885] Chr21:46427636 [GRCh38]
Chr21:47847550 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8997-18G>T single nucleotide variant not provided [RCV002166546] Chr21:46436961 [GRCh38]
Chr21:47856874 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9978A>T (p.Ser3326=) single nucleotide variant not provided [RCV002097199] Chr21:46445294 [GRCh38]
Chr21:47865207 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8997-9T>C single nucleotide variant PCNT-related disorder [RCV003933584]|not provided [RCV002128663] Chr21:46436970 [GRCh38]
Chr21:47856883 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5385G>A (p.Ala1795=) single nucleotide variant not provided [RCV002175145] Chr21:46411458 [GRCh38]
Chr21:47831372 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6792G>A (p.Ala2264=) single nucleotide variant PCNT-related disorder [RCV003923692]|not provided [RCV002152673] Chr21:46416710 [GRCh38]
Chr21:47836624 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6408G>C (p.Gly2136=) single nucleotide variant PCNT-related disorder [RCV004741217]|not provided [RCV002215124] Chr21:46416326 [GRCh38]
Chr21:47836240 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9183G>A (p.Thr3061=) single nucleotide variant PCNT-related disorder [RCV004741245]|not provided [RCV002116366] Chr21:46438247 [GRCh38]
Chr21:47858160 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7653G>A (p.Ala2551=) single nucleotide variant PCNT-related disorder [RCV003903462]|not provided [RCV002086593] Chr21:46428553 [GRCh38]
Chr21:47848467 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4564-20C>T single nucleotide variant not provided [RCV002171693] Chr21:46398215 [GRCh38]
Chr21:47818129 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6390T>C (p.Asp2130=) single nucleotide variant not provided [RCV002210987] Chr21:46416308 [GRCh38]
Chr21:47836222 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8751+12C>A single nucleotide variant not provided [RCV002087027] Chr21:46432227 [GRCh38]
Chr21:47852141 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5449C>T (p.Leu1817=) single nucleotide variant not provided [RCV002171815] Chr21:46411522 [GRCh38]
Chr21:47831436 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.885A>G (p.Leu295=) single nucleotide variant PCNT-related disorder [RCV004741257]|not provided [RCV002195821] Chr21:46346907 [GRCh38]
Chr21:47766821 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4216+11C>T single nucleotide variant not provided [RCV002114672] Chr21:46391387 [GRCh38]
Chr21:47811302 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9138C>T (p.Asp3046=) single nucleotide variant PCNT-related disorder [RCV003933433]|not provided [RCV002115412] Chr21:46438202 [GRCh38]
Chr21:47858115 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6150+15del deletion not provided [RCV002132216] Chr21:46413002 [GRCh38]
Chr21:47832916 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.5997T>C (p.Gly1999=) single nucleotide variant PCNT-related disorder [RCV003913542]|not provided [RCV002170734] Chr21:46412839 [GRCh38]
Chr21:47832753 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5994+14G>C single nucleotide variant not provided [RCV002191955] Chr21:46412081 [GRCh38]
Chr21:47831995 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4447-18C>T single nucleotide variant not provided [RCV002149526] Chr21:46397996 [GRCh38]
Chr21:47817910 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5253C>T (p.His1751=) single nucleotide variant PCNT-related disorder [RCV004741220]|not provided [RCV002094934] Chr21:46411326 [GRCh38]
Chr21:47831240 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3831C>T (p.Ser1277=) single nucleotide variant not provided [RCV002093157] Chr21:46389422 [GRCh38]
Chr21:47809337 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3465-10C>T single nucleotide variant not provided [RCV002150183] Chr21:46388732 [GRCh38]
Chr21:47808647 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3528C>T (p.Ala1176=) single nucleotide variant PCNT-related disorder [RCV003895936]|not provided [RCV002128523] Chr21:46388805 [GRCh38]
Chr21:47808720 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1474C>T (p.Leu492=) single nucleotide variant PCNT-related disorder [RCV003951237]|not provided [RCV002131807] Chr21:46353121 [GRCh38]
Chr21:47773035 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9084G>A (p.Arg3028=) single nucleotide variant not provided [RCV002174663] Chr21:46437066 [GRCh38]
Chr21:47856979 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6150+16A>G single nucleotide variant not provided [RCV002149882] Chr21:46413008 [GRCh38]
Chr21:47832922 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.393G>A (p.Gly131=) single nucleotide variant PCNT-related disorder [RCV003923579]|not provided [RCV002098097] Chr21:46334522 [GRCh38]
Chr21:47754436 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5487G>A (p.Glu1829=) single nucleotide variant not provided [RCV002156326] Chr21:46411560 [GRCh38]
Chr21:47831474 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3363C>T (p.Ser1121=) single nucleotide variant PCNT-related disorder [RCV003911253]|not provided [RCV002199957] Chr21:46385882 [GRCh38]
Chr21:47805797 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4395G>A (p.Gln1465=) single nucleotide variant PCNT-related disorder [RCV003911256]|not provided [RCV002200283] Chr21:46397443 [GRCh38]
Chr21:47817357 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8883C>T (p.Ala2961=) single nucleotide variant not provided [RCV002217010] Chr21:46436035 [GRCh38]
Chr21:47855948 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4004-15G>A single nucleotide variant not provided [RCV002198454] Chr21:46391149 [GRCh38]
Chr21:47811064 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7180-16C>T single nucleotide variant not provided [RCV002158324] Chr21:46425815 [GRCh38]
Chr21:47845729 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3607+12G>A single nucleotide variant not provided [RCV002204143] Chr21:46388896 [GRCh38]
Chr21:47808811 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3465-8T>C single nucleotide variant not provided [RCV002198976] Chr21:46388734 [GRCh38]
Chr21:47808649 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1207+9T>C single nucleotide variant PCNT-related disorder [RCV004741243]|not provided [RCV002120744] Chr21:46349195 [GRCh38]
Chr21:47769109 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4792-6dup duplication not provided [RCV002180551] Chr21:46401535..46401536 [GRCh38]
Chr21:47821449..47821450 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.4564-15A>G single nucleotide variant not provided [RCV002119170] Chr21:46398220 [GRCh38]
Chr21:47818134 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2610-20T>C single nucleotide variant not provided [RCV002178819] Chr21:46366564 [GRCh38]
Chr21:47786479 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7006G>A (p.Ala2336Thr) single nucleotide variant Inborn genetic diseases [RCV004958487]|Microcephalic osteodysplastic primordial dwarfism type II [RCV002227369]|PCNT-related disorder [RCV003933699] Chr21:46418288 [GRCh38]
Chr21:47838202 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.3810C>T (p.Leu1270=) single nucleotide variant PCNT-related disorder [RCV003941347]|not provided [RCV002197756] Chr21:46389401 [GRCh38]
Chr21:47809316 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1936+8C>T single nucleotide variant PCNT-related disorder [RCV003933618]|not provided [RCV002139245] Chr21:46355634 [GRCh38]
Chr21:47775549 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.4792-6del deletion not provided [RCV002179193] Chr21:46401536 [GRCh38]
Chr21:47821450 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.7557C>T (p.Ser2519=) single nucleotide variant PCNT-related disorder [RCV004741226]|not provided [RCV002098018] Chr21:46428457 [GRCh38]
Chr21:47848371 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4083G>C (p.Leu1361=) single nucleotide variant PCNT-related disorder [RCV004741210]|not provided [RCV002175471] Chr21:46391243 [GRCh38]
Chr21:47811158 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5613C>T (p.Ala1871=) single nucleotide variant PCNT-related disorder [RCV003933571]|not provided [RCV002121579] Chr21:46411686 [GRCh38]
Chr21:47831600 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6651G>A (p.Gly2217=) single nucleotide variant PCNT-related disorder [RCV004741224]|not provided [RCV002100199] Chr21:46416569 [GRCh38]
Chr21:47836483 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.48G>A (p.Arg16=) single nucleotide variant not provided [RCV002118737] Chr21:46324276 [GRCh38]
Chr21:47744190 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6921+11G>C single nucleotide variant not provided [RCV002200845] Chr21:46416850 [GRCh38]
Chr21:47836764 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7302C>A (p.Leu2434=) single nucleotide variant not provided [RCV002120632] Chr21:46425953 [GRCh38]
Chr21:47845867 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8214C>T (p.Ser2738=) single nucleotide variant not provided [RCV002157109] Chr21:46431678 [GRCh38]
Chr21:47851592 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9100-18T>C single nucleotide variant not provided [RCV002142557] Chr21:46438146 [GRCh38]
Chr21:47858059 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7317G>A (p.Thr2439=) single nucleotide variant not provided [RCV002099485] Chr21:46425968 [GRCh38]
Chr21:47845882 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8289C>T (p.His2763=) single nucleotide variant not provided [RCV002176809] Chr21:46431753 [GRCh38]
Chr21:47851667 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.471G>C (p.Gly157=) single nucleotide variant not provided [RCV002138734] Chr21:46334600 [GRCh38]
Chr21:47754514 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4962+7G>A single nucleotide variant PCNT-related disorder [RCV003984232]|not provided [RCV002143865] Chr21:46401728 [GRCh38]
Chr21:47821642 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6166C>T (p.Leu2056=) single nucleotide variant not provided [RCV002199705] Chr21:46416084 [GRCh38]
Chr21:47835998 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8349C>T (p.Asp2783=) single nucleotide variant PCNT-related disorder [RCV004741233]|not provided [RCV002117498] Chr21:46431813 [GRCh38]
Chr21:47851727 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7690+8T>C single nucleotide variant not provided [RCV002119378] Chr21:46428598 [GRCh38]
Chr21:47848512 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9393+9G>A single nucleotide variant PCNT-related disorder [RCV004741254]|not provided [RCV002156254] Chr21:46440211 [GRCh38]
Chr21:47860124 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6088C>T (p.Leu2030=) single nucleotide variant not provided [RCV002200205] Chr21:46412930 [GRCh38]
Chr21:47832844 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5409C>T (p.Ser1803=) single nucleotide variant PCNT-related disorder [RCV004741242]|not provided [RCV002118241] Chr21:46411482 [GRCh38]
Chr21:47831396 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8352A>G (p.Thr2784=) single nucleotide variant not provided [RCV002118501] Chr21:46431816 [GRCh38]
Chr21:47851730 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7596C>T (p.His2532=) single nucleotide variant not provided [RCV002157002] Chr21:46428496 [GRCh38]
Chr21:47848410 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2040A>G (p.Gln680=) single nucleotide variant PCNT-related disorder [RCV004741202]|not provided [RCV002082884] Chr21:46357077 [GRCh38]
Chr21:47776992 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5955C>T (p.Ser1985=) single nucleotide variant not provided [RCV002179135] Chr21:46412028 [GRCh38]
Chr21:47831942 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3840+19G>C single nucleotide variant not provided [RCV002135558] Chr21:46389450 [GRCh38]
Chr21:47809365 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.640-3110G>A single nucleotide variant not provided [RCV002181123] Chr21:46343018 [GRCh38]
Chr21:47762932 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.909G>A (p.Leu303=) single nucleotide variant not provided [RCV002181180] Chr21:46346931 [GRCh38]
Chr21:47766845 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6885G>A (p.Pro2295=) single nucleotide variant not provided [RCV002103855] Chr21:46416803 [GRCh38]
Chr21:47836717 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5079C>T (p.Ser1693=) single nucleotide variant PCNT-related disorder [RCV003970995]|not provided [RCV002084382] Chr21:46402447 [GRCh38]
Chr21:47822361 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2779T>C (p.Leu927=) single nucleotide variant PCNT-related disorder [RCV003968824]|not provided [RCV002217573] Chr21:46366753 [GRCh38]
Chr21:47786668 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8412G>A (p.Leu2804=) single nucleotide variant PCNT-related disorder [RCV004741206]|not provided [RCV002157165] Chr21:46431876 [GRCh38]
Chr21:47851790 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8996+12C>T single nucleotide variant not provided [RCV002119145] Chr21:46436160 [GRCh38]
Chr21:47856073 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2022A>G (p.Glu674=) single nucleotide variant not provided [RCV002178818] Chr21:46357059 [GRCh38]
Chr21:47776974 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2609+16C>T single nucleotide variant not provided [RCV002142671] Chr21:46363950 [GRCh38]
Chr21:47783865 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9942G>A (p.Gln3314=) single nucleotide variant not provided [RCV003110864] Chr21:46444796 [GRCh38]
Chr21:47864709 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8139G>A (p.Thr2713=) single nucleotide variant not provided [RCV003112550] Chr21:46431603 [GRCh38]
Chr21:47851517 [GRCh37]
Chr21:21q22.3		 likely benign
NC_000021.8:g.(?_47850401)_(47865240_?)del deletion not provided [RCV003116485] Chr21:47850401..47865240 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NC_000021.8:g.(?_47859976)_(47862506_?)del deletion not provided [RCV003116486] Chr21:47859976..47862506 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_47831083)_(47842058_?)dup duplication not provided [RCV003116487] Chr21:47831083..47842058 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8591A>G (p.Glu2864Gly) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003135282]|PCNT-related disorder [RCV003396899]|not provided [RCV003113408]|not specified [RCV004701008] Chr21:46432055 [GRCh38]
Chr21:47851969 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5116-3C>T single nucleotide variant not provided [RCV003112316] Chr21:46411186 [GRCh38]
Chr21:47831100 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5505G>A (p.Leu1835=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003120109]|PCNT-related disorder [RCV003906653]|not provided [RCV003730398] Chr21:46411578 [GRCh38]
Chr21:47831492 [GRCh37]
Chr21:21q22.3		 likely benign
NC_000021.8:g.(?_43160998)_(47754702_?)del deletion Developmental and epileptic encephalopathy, 30 [RCV003119312]|Progressive myoclonic epilepsy [RCV003119311] Chr21:43160998..47754702 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
NM_006031.6(PCNT):c.5994+8C>T single nucleotide variant PCNT-related disorder [RCV004741451]|not provided [RCV003118699] Chr21:46412075 [GRCh38]
Chr21:47831989 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1971C>T (p.Asp657=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003120309]|not provided [RCV003778664] Chr21:46357008 [GRCh38]
Chr21:47776923 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5824A>G (p.Arg1942Gly) single nucleotide variant not provided [RCV004786102] Chr21:46411897 [GRCh38]
Chr21:47831811 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8812G>A (p.Val2938Met) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003340664]|PCNT-related disorder [RCV004741461]|not specified [RCV003151596] Chr21:46435964 [GRCh38]
Chr21:47855877 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2813_2814del (p.Gln938fs) deletion See cases [RCV002252802] Chr21:46366787..46366788 [GRCh38]
Chr21:47786702..47786703 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.4448_4791+1del deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV003153288] Chr21:46398011..46399793 [GRCh38]
Chr21:47817925..47819707 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.1334_1335del (p.Lys445fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV003129566] Chr21:46349807..46349808 [GRCh38]
Chr21:47769721..47769722 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.3086C>G (p.Ser1029Cys) single nucleotide variant not provided [RCV003237183] Chr21:46367060 [GRCh38]
Chr21:47786975 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5632G>C (p.Asp1878His) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003131889] Chr21:46411705 [GRCh38]
Chr21:47831619 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6564_6565del (p.Met2188fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV003237399] Chr21:46416481..46416482 [GRCh38]
Chr21:47836395..47836396 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.8018dup (p.Leu2674fs) duplication Microcephalic osteodysplastic primordial dwarfism type II [RCV003237400] Chr21:46430610..46430611 [GRCh38]
Chr21:47850524..47850525 [GRCh37]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21q22.3(chr21:42679089-48097372) copy number loss Delayed speech and language development [RCV002280704] Chr21:42679089..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.9842C>T (p.Ala3281Val) single nucleotide variant PCNT-related disorder [RCV004741274]|not provided [RCV002267502] Chr21:46444696 [GRCh38]
Chr21:47864609 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:47533920-48084286)x1 copy number loss not provided [RCV002276432] Chr21:47533920..48084286 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.6142G>A (p.Gly2048Ser) single nucleotide variant not provided [RCV002291903] Chr21:46412984 [GRCh38]
Chr21:47832898 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9041C>G (p.Ser3014Cys) single nucleotide variant not provided [RCV002281220] Chr21:46437023 [GRCh38]
Chr21:47856936 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8023C>G (p.Arg2675Gly) single nucleotide variant not provided [RCV002297026] Chr21:46430616 [GRCh38]
Chr21:47850530 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4072G>C (p.Glu1358Gln) single nucleotide variant See cases [RCV002287752] Chr21:46391232 [GRCh38]
Chr21:47811147 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9590G>A (p.Arg3197His) single nucleotide variant Inborn genetic diseases [RCV003305378]|PCNT-related disorder [RCV004741481] Chr21:46441051 [GRCh38]
Chr21:47860964 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8695C>T (p.Gln2899Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV002471877] Chr21:46432159 [GRCh38]
Chr21:47852073 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.7174G>A (p.Val2392Met) single nucleotide variant Inborn genetic diseases [RCV004651999]|not provided [RCV002613983] Chr21:46422119 [GRCh38]
Chr21:47842033 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.536C>T (p.Pro179Leu) single nucleotide variant PCNT-related disorder [RCV003403941]|not provided [RCV002902934] Chr21:46334665 [GRCh38]
Chr21:47754579 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4216+12G>A single nucleotide variant not provided [RCV002681897] Chr21:46391388 [GRCh38]
Chr21:47811303 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9393+1G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003485787]|PCNT-related disorder [RCV004741297]|not provided [RCV002474146] Chr21:46440203 [GRCh38]
Chr21:47860116 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.5147A>C (p.Glu1716Ala) single nucleotide variant not provided [RCV002304420] Chr21:46411220 [GRCh38]
Chr21:47831134 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.207T>G (p.Ile69Met) single nucleotide variant not provided [RCV002304532] Chr21:46326529 [GRCh38]
Chr21:47746443 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4305G>C (p.Gln1435His) single nucleotide variant not provided [RCV002305210] Chr21:46397353 [GRCh38]
Chr21:47817267 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6770A>G (p.Asp2257Gly) single nucleotide variant not provided [RCV002295914] Chr21:46416688 [GRCh38]
Chr21:47836602 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3336A>C (p.Leu1112Phe) single nucleotide variant not provided [RCV002303286] Chr21:46385855 [GRCh38]
Chr21:47805770 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8394G>A (p.Lys2798=) single nucleotide variant not provided [RCV002613761] Chr21:46431858 [GRCh38]
Chr21:47851772 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7460T>G (p.Leu2487Arg) single nucleotide variant not provided [RCV002750261] Chr21:46427761 [GRCh38]
Chr21:47847675 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7674C>T (p.His2558=) single nucleotide variant PCNT-related disorder [RCV003963496]|not provided [RCV002971004] Chr21:46428574 [GRCh38]
Chr21:47848488 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7078G>T (p.Ala2360Ser) single nucleotide variant Inborn genetic diseases [RCV002816750] Chr21:46422023 [GRCh38]
Chr21:47841937 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.102G>C (p.Ser34=) single nucleotide variant PCNT-related disorder [RCV004741328]|not provided [RCV002750906] Chr21:46326424 [GRCh38]
Chr21:47746338 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4436A>C (p.Gln1479Pro) single nucleotide variant not provided [RCV002755010] Chr21:46397484 [GRCh38]
Chr21:47817398 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7482C>T (p.Ile2494=) single nucleotide variant not provided [RCV002731342] Chr21:46427783 [GRCh38]
Chr21:47847697 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2521C>T (p.Arg841Trp) single nucleotide variant not provided [RCV002726627] Chr21:46363846 [GRCh38]
Chr21:47783761 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4448A>C (p.Glu1483Ala) single nucleotide variant Inborn genetic diseases [RCV002729123] Chr21:46398015 [GRCh38]
Chr21:47817929 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.222A>G (p.Ser74=) single nucleotide variant not provided [RCV002616626] Chr21:46326544 [GRCh38]
Chr21:47746458 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8753G>A (p.Arg2918Gln) single nucleotide variant not provided [RCV002971287] Chr21:46435905 [GRCh38]
Chr21:47855818 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.354G>C (p.Gly118=) single nucleotide variant not provided [RCV002616646] Chr21:46334483 [GRCh38]
Chr21:47754397 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8434C>G (p.Gln2812Glu) single nucleotide variant not provided [RCV002996714] Chr21:46431898 [GRCh38]
Chr21:47851812 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3165+15C>A single nucleotide variant not provided [RCV002771356] Chr21:46367154 [GRCh38]
Chr21:47787069 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.4079G>A (p.Arg1360His) single nucleotide variant Inborn genetic diseases [RCV002773087] Chr21:46391239 [GRCh38]
Chr21:47811154 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5632G>A (p.Asp1878Asn) single nucleotide variant Inborn genetic diseases [RCV004065194]|not provided [RCV002993828] Chr21:46411705 [GRCh38]
Chr21:47831619 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8093G>A (p.Arg2698His) single nucleotide variant Inborn genetic diseases [RCV002818305]|PCNT-related disorder [RCV004741429] Chr21:46431557 [GRCh38]
Chr21:47851471 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.298G>A (p.Asp100Asn) single nucleotide variant Inborn genetic diseases [RCV003274131]|PCNT-related disorder [RCV003418702]|not provided [RCV002996281] Chr21:46334427 [GRCh38]
Chr21:47754341 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3851C>T (p.Ala1284Val) single nucleotide variant not provided [RCV002618603] Chr21:46390680 [GRCh38]
Chr21:47810595 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5593G>A (p.Ala1865Thr) single nucleotide variant Inborn genetic diseases [RCV002793522] Chr21:46411666 [GRCh38]
Chr21:47831580 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9839+6T>C single nucleotide variant PCNT-related disorder [RCV004741291]|not provided [RCV002462386] Chr21:46443954 [GRCh38]
Chr21:47863867 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.466_467insTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAATCAGTGACCACCAACCGGAACAGCG (p.His156delinsLeuGlyCysSerGlnSerValThrThrHisGlnAsnSerValGlyCysSerGlnSerValThrThrAsnArgAsnSerAsp) insertion not provided [RCV002947441] Chr21:46334595..46334596 [GRCh38]
Chr21:47754509..47754510 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2597T>A (p.Leu866Gln) single nucleotide variant not provided [RCV003017268] Chr21:46363922 [GRCh38]
Chr21:47783837 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5890G>A (p.Ala1964Thr) single nucleotide variant Inborn genetic diseases [RCV004654066]|PCNT-related disorder [RCV003418679]|not provided [RCV002975368] Chr21:46411963 [GRCh38]
Chr21:47831877 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1822C>T (p.Leu608=) single nucleotide variant not provided [RCV002843208] Chr21:46355512 [GRCh38]
Chr21:47775427 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1417C>T (p.Gln473Ter) single nucleotide variant not provided [RCV002858566] Chr21:46351501 [GRCh38]
Chr21:47771415 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.2885C>T (p.Thr962Ile) single nucleotide variant Inborn genetic diseases [RCV002752035] Chr21:46366859 [GRCh38]
Chr21:47786774 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7163G>A (p.Arg2388His) single nucleotide variant Inborn genetic diseases [RCV004070556]|PCNT-related disorder [RCV003410124]|not provided [RCV002616543] Chr21:46422108 [GRCh38]
Chr21:47842022 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.234C>A (p.Thr78=) single nucleotide variant not provided [RCV002614129] Chr21:46326556 [GRCh38]
Chr21:47746470 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5330G>C (p.Cys1777Ser) single nucleotide variant Inborn genetic diseases [RCV005382472]|not provided [RCV002795083] Chr21:46411403 [GRCh38]
Chr21:47831317 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9100-13del deletion not provided [RCV002947544] Chr21:46438148 [GRCh38]
Chr21:47858061 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.5548G>A (p.Glu1850Lys) single nucleotide variant Inborn genetic diseases [RCV004068276]|PCNT-related disorder [RCV003403986]|not provided [RCV002975483] Chr21:46411621 [GRCh38]
Chr21:47831535 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3654G>A (p.Leu1218=) single nucleotide variant PCNT-related disorder [RCV003916727]|not provided [RCV003076916] Chr21:46389245 [GRCh38]
Chr21:47809160 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.4857A>G (p.Thr1619=) single nucleotide variant not provided [RCV002755659] Chr21:46401616 [GRCh38]
Chr21:47821530 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8304C>T (p.Thr2768=) single nucleotide variant PCNT-related disorder [RCV003906412]|not provided [RCV002967439] Chr21:46431768 [GRCh38]
Chr21:47851682 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3464+20C>G single nucleotide variant not provided [RCV003034294] Chr21:46386003 [GRCh38]
Chr21:47805918 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.3(chr21:47563980-48097372)x3 copy number gain not provided [RCV002475657] Chr21:47563980..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7540C>T (p.Arg2514Trp) single nucleotide variant not provided [RCV002614457] Chr21:46428440 [GRCh38]
Chr21:47848354 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9624A>C (p.Arg3208Ser) single nucleotide variant Inborn genetic diseases [RCV002731970]|PCNT-related disorder [RCV003395639] Chr21:46442497 [GRCh38]
Chr21:47862410 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4584+16C>T single nucleotide variant not provided [RCV002755741] Chr21:46398271 [GRCh38]
Chr21:47818185 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4176G>T (p.Arg1392=) single nucleotide variant not provided [RCV002618646] Chr21:46391336 [GRCh38]
Chr21:47811251 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4336C>G (p.Gln1446Glu) single nucleotide variant not provided [RCV003016405] Chr21:46397384 [GRCh38]
Chr21:47817298 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6433_6495del (p.Gln2145_Asn2165del) deletion PCNT-related disorder [RCV004741370]|not provided [RCV002996152] Chr21:46416324..46416386 [GRCh38]
Chr21:47836238..47836300 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4941A>G (p.Ala1647=) single nucleotide variant PCNT-related disorder [RCV003898528]|not provided [RCV002751270] Chr21:46401700 [GRCh38]
Chr21:47821614 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4142C>A (p.Ala1381Glu) single nucleotide variant Inborn genetic diseases [RCV002902259] Chr21:46391302 [GRCh38]
Chr21:47811217 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4791+5A>G single nucleotide variant not provided [RCV002681583] Chr21:46399801 [GRCh38]
Chr21:47819715 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2945T>C (p.Ile982Thr) single nucleotide variant PCNT-related disorder [RCV003403866]|not provided [RCV002617160] Chr21:46366919 [GRCh38]
Chr21:47786834 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.266A>G (p.Gln89Arg) single nucleotide variant Inborn genetic diseases [RCV002777061] Chr21:46326588 [GRCh38]
Chr21:47746502 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4585G>A (p.Val1529Ile) single nucleotide variant Inborn genetic diseases [RCV002751713] Chr21:46399590 [GRCh38]
Chr21:47819504 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.930C>G (p.His310Gln) single nucleotide variant not provided [RCV002750876] Chr21:46346952 [GRCh38]
Chr21:47766866 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9590G>T (p.Arg3197Leu) single nucleotide variant Inborn genetic diseases [RCV002840748] Chr21:46441051 [GRCh38]
Chr21:47860964 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8792T>C (p.Ile2931Thr) single nucleotide variant not provided [RCV002686246] Chr21:46435944 [GRCh38]
Chr21:47855857 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1330G>C (p.Glu444Gln) single nucleotide variant Inborn genetic diseases [RCV002752800] Chr21:46349806 [GRCh38]
Chr21:47769720 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1779C>T (p.Phe593=) single nucleotide variant not provided [RCV002776511] Chr21:46355469 [GRCh38]
Chr21:47775384 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3239C>T (p.Ala1080Val) single nucleotide variant Inborn genetic diseases [RCV002817327] Chr21:46381767 [GRCh38]
Chr21:47801682 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3167G>A (p.Gly1056Asp) single nucleotide variant Inborn genetic diseases [RCV002997211]|PCNT-related disorder [RCV003396861] Chr21:46381695 [GRCh38]
Chr21:47801610 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4962+11A>C single nucleotide variant not provided [RCV002947900] Chr21:46401732 [GRCh38]
Chr21:47821646 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4477G>A (p.Glu1493Lys) single nucleotide variant PCNT-related disorder [RCV004741464]|not provided [RCV003156528] Chr21:46398044 [GRCh38]
Chr21:47817958 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2424G>C (p.Leu808=) single nucleotide variant PCNT-related disorder [RCV003898641]|not provided [RCV002974796] Chr21:46363749 [GRCh38]
Chr21:47783664 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6782G>A (p.Gly2261Glu) single nucleotide variant not provided [RCV002690288] Chr21:46416700 [GRCh38]
Chr21:47836614 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:46882064-47963149)x3 copy number gain not provided [RCV002475631] Chr21:46882064..47963149 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1457-10T>C single nucleotide variant PCNT-related disorder [RCV003898694]|not provided [RCV003013673] Chr21:46353094 [GRCh38]
Chr21:47773008 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.640-4C>T single nucleotide variant not provided [RCV002880976] Chr21:46346124 [GRCh38]
Chr21:47766038 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6890C>T (p.Ala2297Val) single nucleotide variant not provided [RCV003017433] Chr21:46416808 [GRCh38]
Chr21:47836722 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6899del (p.His2300fs) deletion not provided [RCV002511486] Chr21:46416817 [GRCh38]
Chr21:47836731 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.8131G>C (p.Glu2711Gln) single nucleotide variant Inborn genetic diseases [RCV002906134] Chr21:46431595 [GRCh38]
Chr21:47851509 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3608C>T (p.Ala1203Val) single nucleotide variant Inborn genetic diseases [RCV002863931] Chr21:46389199 [GRCh38]
Chr21:47809114 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.161G>A (p.Ser54Asn) single nucleotide variant not provided [RCV003034849] Chr21:46326483 [GRCh38]
Chr21:47746397 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6151-10T>C single nucleotide variant not provided [RCV002755190] Chr21:46416059 [GRCh38]
Chr21:47835973 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1644G>A (p.Ala548=) single nucleotide variant not provided [RCV002618179] Chr21:46353291 [GRCh38]
Chr21:47773205 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.458C>A (p.Pro153Gln) single nucleotide variant Inborn genetic diseases [RCV002794528] Chr21:46334587 [GRCh38]
Chr21:47754501 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8090A>T (p.Gln2697Leu) single nucleotide variant Inborn genetic diseases [RCV002865192] Chr21:46431554 [GRCh38]
Chr21:47851468 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1201G>T (p.Ala401Ser) single nucleotide variant Inborn genetic diseases [RCV002865534] Chr21:46349180 [GRCh38]
Chr21:47769094 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9517A>G (p.Met3173Val) single nucleotide variant not provided [RCV002614060] Chr21:46440978 [GRCh38]
Chr21:47860891 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.335A>G (p.His112Arg) single nucleotide variant PCNT-related disorder [RCV004741315]|not provided [RCV002623156] Chr21:46334464 [GRCh38]
Chr21:47754378 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8075C>T (p.Ala2692Val) single nucleotide variant not provided [RCV002623179] Chr21:46431539 [GRCh38]
Chr21:47851453 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4882C>T (p.Pro1628Ser) single nucleotide variant not provided [RCV002623048] Chr21:46401641 [GRCh38]
Chr21:47821555 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7268C>G (p.Pro2423Arg) single nucleotide variant Inborn genetic diseases [RCV002976952]|PCNT-related disorder [RCV003420484] Chr21:46425919 [GRCh38]
Chr21:47845833 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6150+10_6150+11insCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAG insertion not provided [RCV002926896] Chr21:46412987..46412988 [GRCh38]
Chr21:47832901..47832902 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6150+48_6150+49insTGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACA microsatellite not provided [RCV002795797] Chr21:46413003..46413004 [GRCh38]
Chr21:47832917..47832918 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3510A>G (p.Gly1170=) single nucleotide variant PCNT-related disorder [RCV003971353]|not provided [RCV002639665] Chr21:46388787 [GRCh38]
Chr21:47808702 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.841C>T (p.Arg281Trp) single nucleotide variant Inborn genetic diseases [RCV002696379]|PCNT-related disorder [RCV003936638] Chr21:46346863 [GRCh38]
Chr21:47766777 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2881G>C (p.Glu961Gln) single nucleotide variant Inborn genetic diseases [RCV003170812]|PCNT-related disorder [RCV004741366]|not provided [RCV002979617] Chr21:46366855 [GRCh38]
Chr21:47786770 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8260A>G (p.Thr2754Ala) single nucleotide variant PCNT-related disorder [RCV003403970]|not provided [RCV002952800] Chr21:46431724 [GRCh38]
Chr21:47851638 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9980del (p.Lys3327fs) deletion not provided [RCV003039175] Chr21:46445294 [GRCh38]
Chr21:47865207 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8684C>T (p.Ala2895Val) single nucleotide variant Inborn genetic diseases [RCV002924087] Chr21:46432148 [GRCh38]
Chr21:47852062 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3960C>T (p.Ser1320=) single nucleotide variant not provided [RCV002663088] Chr21:46390789 [GRCh38]
Chr21:47810704 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5167A>G (p.Asn1723Asp) single nucleotide variant Inborn genetic diseases [RCV002919255]|PCNT-related disorder [RCV003403961]|not provided [RCV002927763] Chr21:46411240 [GRCh38]
Chr21:47831154 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1842C>T (p.Ile614=) single nucleotide variant PCNT-related disorder [RCV004741320]|not provided [RCV002640191] Chr21:46355532 [GRCh38]
Chr21:47775447 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6150+32_6150+33insTGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCC microsatellite not provided [RCV002571802] Chr21:46413003..46413004 [GRCh38]
Chr21:47832917..47832918 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5627A>T (p.Glu1876Val) single nucleotide variant not provided [RCV003020515] Chr21:46411700 [GRCh38]
Chr21:47831614 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2893C>T (p.Leu965=) single nucleotide variant PCNT-related disorder [RCV004741355]|not provided [RCV002923686] Chr21:46366867 [GRCh38]
Chr21:47786782 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.636A>G (p.Thr212=) single nucleotide variant PCNT-related disorder [RCV003936528]|not provided [RCV003079132] Chr21:46334765 [GRCh38]
Chr21:47754679 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1938G>C (p.Glu646Asp) single nucleotide variant Inborn genetic diseases [RCV002924226] Chr21:46356975 [GRCh38]
Chr21:47776890 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4687G>A (p.Glu1563Lys) single nucleotide variant not provided [RCV002691065] Chr21:46399692 [GRCh38]
Chr21:47819606 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6840A>G (p.Pro2280=) single nucleotide variant not provided [RCV002706233] Chr21:46416758 [GRCh38]
Chr21:47836672 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7179+16G>A single nucleotide variant not provided [RCV002569727] Chr21:46422140 [GRCh38]
Chr21:47842054 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6258C>G (p.Phe2086Leu) single nucleotide variant PCNT-related disorder [RCV003916762]|not provided [RCV003100497] Chr21:46416176 [GRCh38]
Chr21:47836090 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.5879_5902del (p.Arg1960_Gln1967del) deletion PCNT-related disorder [RCV003418689]|not provided [RCV002976098] Chr21:46411951..46411974 [GRCh38]
Chr21:47831865..47831888 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4441A>G (p.Met1481Val) single nucleotide variant PCNT-related disorder [RCV004741412]|not provided [RCV002620365] Chr21:46397489 [GRCh38]
Chr21:47817403 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9214G>A (p.Ala3072Thr) single nucleotide variant Inborn genetic diseases [RCV002737388] Chr21:46438278 [GRCh38]
Chr21:47858191 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8058C>T (p.Ala2686=) single nucleotide variant not provided [RCV002889285] Chr21:46430651 [GRCh38]
Chr21:47850565 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6578_6579delinsGA (p.Pro2193Arg) indel not provided [RCV002638676] Chr21:46416496..46416497 [GRCh38]
Chr21:47836410..47836411 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7953G>A (p.Ala2651=) single nucleotide variant PCNT-related disorder [RCV003898533]|not provided [RCV002756897] Chr21:46430546 [GRCh38]
Chr21:47850460 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.428_466del (p.Arg143_Gln155del) deletion PCNT-related disorder [RCV004741365]|not provided [RCV003001965] Chr21:46334536..46334574 [GRCh38]
Chr21:47754450..47754488 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3607+14G>A single nucleotide variant not provided [RCV002847170] Chr21:46388898 [GRCh38]
Chr21:47808813 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3607+19G>C single nucleotide variant not provided [RCV002621993] Chr21:46388903 [GRCh38]
Chr21:47808818 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2207A>G (p.Gln736Arg) single nucleotide variant Inborn genetic diseases [RCV005382572]|PCNT-related disorder [RCV004741413]|not provided [RCV002636836] Chr21:46363532 [GRCh38]
Chr21:47783447 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5612_5629del (p.Ala1871_Ile1877delinsVal) deletion not provided [RCV002739993] Chr21:46411685..46411702 [GRCh38]
Chr21:47831599..47831616 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9309G>A (p.Thr3103=) single nucleotide variant not provided [RCV002979320] Chr21:46440118 [GRCh38]
Chr21:47860031 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.559_636del (p.Val187_Thr212del) deletion not provided [RCV003038738] Chr21:46334667..46334744 [GRCh38]
Chr21:47754581..47754658 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1679+17C>T single nucleotide variant not provided [RCV002846804] Chr21:46353343 [GRCh38]
Chr21:47773257 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2606G>A (p.Ser869Asn) single nucleotide variant Inborn genetic diseases [RCV002887174] Chr21:46363931 [GRCh38]
Chr21:47783846 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5192T>C (p.Leu1731Ser) single nucleotide variant PCNT-related disorder [RCV004725391]|not provided [RCV002824924] Chr21:46411265 [GRCh38]
Chr21:47831179 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8383A>G (p.Lys2795Glu) single nucleotide variant Inborn genetic diseases [RCV002798518] Chr21:46431847 [GRCh38]
Chr21:47851761 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6193G>A (p.Asp2065Asn) single nucleotide variant PCNT-related disorder [RCV004725365]|not provided [RCV002761140] Chr21:46416111 [GRCh38]
Chr21:47836025 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5768G>A (p.Arg1923Gln) single nucleotide variant PCNT-related disorder [RCV004741374]|not provided [RCV003053699] Chr21:46411841 [GRCh38]
Chr21:47831755 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6643C>G (p.Pro2215Ala) single nucleotide variant not provided [RCV002569791] Chr21:46416561 [GRCh38]
Chr21:47836475 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7495-7C>T single nucleotide variant not provided [RCV002820875] Chr21:46428388 [GRCh38]
Chr21:47848302 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4200C>T (p.Ala1400=) single nucleotide variant PCNT-related disorder [RCV004741324]|not provided [RCV002706109] Chr21:46391360 [GRCh38]
Chr21:47811275 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5247G>C (p.Leu1749=) single nucleotide variant not provided [RCV002639428] Chr21:46411320 [GRCh38]
Chr21:47831234 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2874C>T (p.Gly958=) single nucleotide variant PCNT-related disorder [RCV003918937]|not provided [RCV002637878] Chr21:46366848 [GRCh38]
Chr21:47786763 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7337G>T (p.Cys2446Phe) single nucleotide variant Inborn genetic diseases [RCV003001123]|PCNT-related disorder [RCV004741438] Chr21:46427638 [GRCh38]
Chr21:47847552 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1359A>G (p.Gln453=) single nucleotide variant not provided [RCV002952414] Chr21:46351443 [GRCh38]
Chr21:47771357 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4469A>T (p.His1490Leu) single nucleotide variant Inborn genetic diseases [RCV002799172] Chr21:46398036 [GRCh38]
Chr21:47817950 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6150+48_6150+49insTGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACA microsatellite not provided [RCV002639806] Chr21:46413003..46413004 [GRCh38]
Chr21:47832917..47832918 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7298C>G (p.Ser2433Trp) single nucleotide variant Inborn genetic diseases [RCV002758376] Chr21:46425949 [GRCh38]
Chr21:47845863 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3813G>A (p.Met1271Ile) single nucleotide variant Inborn genetic diseases [RCV003078868]|PCNT-related disorder [RCV003404071]|not provided [RCV003078867] Chr21:46389404 [GRCh38]
Chr21:47809319 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9569C>A (p.Ser3190Tyr) single nucleotide variant not provided [RCV002824046] Chr21:46441030 [GRCh38]
Chr21:47860943 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2663C>T (p.Ala888Val) single nucleotide variant not provided [RCV003036394] Chr21:46366637 [GRCh38]
Chr21:47786552 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3104G>A (p.Arg1035Gln) single nucleotide variant PCNT-related disorder [RCV004741382]|not provided [RCV003053247] Chr21:46367078 [GRCh38]
Chr21:47786993 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5994+11C>A single nucleotide variant not provided [RCV002847637] Chr21:46412078 [GRCh38]
Chr21:47831992 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8751+17G>A single nucleotide variant not provided [RCV002571717] Chr21:46432232 [GRCh38]
Chr21:47852146 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.7883G>T (p.Cys2628Phe) single nucleotide variant PCNT-related disorder [RCV004741301]|not provided [RCV002570170] Chr21:46430202 [GRCh38]
Chr21:47850116 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9342C>T (p.Pro3114=) single nucleotide variant PCNT-related disorder [RCV004741314]|not provided [RCV002622754] Chr21:46440151 [GRCh38]
Chr21:47860064 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4498C>A (p.Gln1500Lys) single nucleotide variant Inborn genetic diseases [RCV004661512]|PCNT-related disorder [RCV003409980]|not provided [RCV002923700] Chr21:46398065 [GRCh38]
Chr21:47817979 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1585G>C (p.Asp529His) single nucleotide variant Inborn genetic diseases [RCV002590722]|not provided [RCV002625428] Chr21:46353232 [GRCh38]
Chr21:47773146 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1782G>T (p.Gln594His) single nucleotide variant Inborn genetic diseases [RCV002888337] Chr21:46355472 [GRCh38]
Chr21:47775387 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.397T>A (p.Phe133Ile) single nucleotide variant Inborn genetic diseases [RCV003308190]|not provided [RCV002622044] Chr21:46334526 [GRCh38]
Chr21:47754440 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4276G>A (p.Glu1426Lys) single nucleotide variant PCNT-related disorder [RCV003418591]|not provided [RCV002691134] Chr21:46397324 [GRCh38]
Chr21:47817238 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3069C>T (p.His1023=) single nucleotide variant not provided [RCV002795786] Chr21:46367043 [GRCh38]
Chr21:47786958 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6150+11G>A single nucleotide variant not provided [RCV002622447] Chr21:46413003 [GRCh38]
Chr21:47832917 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.150C>G (p.Val50=) single nucleotide variant not provided [RCV002571081] Chr21:46326472 [GRCh38]
Chr21:47746386 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3544C>T (p.Arg1182Trp) single nucleotide variant not provided [RCV002570926] Chr21:46388821 [GRCh38]
Chr21:47808736 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8023C>T (p.Arg2675Trp) single nucleotide variant Inborn genetic diseases [RCV004958678]|PCNT-related disorder [RCV004741319]|not provided [RCV002643453] Chr21:46430616 [GRCh38]
Chr21:47850530 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5920G>A (p.Ala1974Thr) single nucleotide variant Inborn genetic diseases [RCV002745074]|PCNT-related disorder [RCV003420531] Chr21:46411993 [GRCh38]
Chr21:47831907 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8752-5A>T single nucleotide variant not provided [RCV002766595] Chr21:46435899 [GRCh38]
Chr21:47855812 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9820T>A (p.Ser3274Thr) single nucleotide variant PCNT-related disorder [RCV004741330]|not provided [RCV002766681] Chr21:46443929 [GRCh38]
Chr21:47863842 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7949C>T (p.Ala2650Val) single nucleotide variant Inborn genetic diseases [RCV002919423] Chr21:46430542 [GRCh38]
Chr21:47850456 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5433C>T (p.Arg1811=) single nucleotide variant PCNT-related disorder [RCV004741323]|not provided [RCV002700695] Chr21:46411506 [GRCh38]
Chr21:47831420 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6235C>T (p.Arg2079Cys) single nucleotide variant PCNT-related disorder [RCV003409995]|not provided [RCV002958900] Chr21:46416153 [GRCh38]
Chr21:47836067 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6151-4G>A single nucleotide variant not provided [RCV002791385] Chr21:46416065 [GRCh38]
Chr21:47835979 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5371G>A (p.Glu1791Lys) single nucleotide variant PCNT-related disorder [RCV003418660]|not provided [RCV002928529] Chr21:46411444 [GRCh38]
Chr21:47831358 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1727A>T (p.Asp576Val) single nucleotide variant PCNT-related disorder [RCV003404095]|not provided [RCV002595240] Chr21:46354034 [GRCh38]
Chr21:47773948 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4925A>C (p.Glu1642Ala) single nucleotide variant Inborn genetic diseases [RCV002893341] Chr21:46401684 [GRCh38]
Chr21:47821598 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8285G>A (p.Arg2762Gln) single nucleotide variant Inborn genetic diseases [RCV004958608]|PCNT-related disorder [RCV004741306]|not provided [RCV002596970] Chr21:46431749 [GRCh38]
Chr21:47851663 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.1456+18A>G single nucleotide variant not provided [RCV002918127] Chr21:46351558 [GRCh38]
Chr21:47771472 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2652G>A (p.Ala884=) single nucleotide variant not provided [RCV002597080] Chr21:46366626 [GRCh38]
Chr21:47786541 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7691-10T>G single nucleotide variant not provided [RCV003057455] Chr21:46430000 [GRCh38]
Chr21:47849914 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6761G>T (p.Cys2254Phe) single nucleotide variant Inborn genetic diseases [RCV002787801]|PCNT-related disorder [RCV003404157] Chr21:46416679 [GRCh38]
Chr21:47836593 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8960G>A (p.Arg2987Gln) single nucleotide variant PCNT-related disorder [RCV004741309]|not provided [RCV002625559] Chr21:46436112 [GRCh38]
Chr21:47856025 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6888G>T (p.Pro2296=) single nucleotide variant not provided [RCV002851407] Chr21:46416806 [GRCh38]
Chr21:47836720 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5994+13C>T single nucleotide variant not provided [RCV002572299] Chr21:46412080 [GRCh38]
Chr21:47831994 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6921+13T>G single nucleotide variant not provided [RCV002572566] Chr21:46416852 [GRCh38]
Chr21:47836766 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1584G>C (p.Arg528Ser) single nucleotide variant not provided [RCV003040052] Chr21:46353231 [GRCh38]
Chr21:47773145 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7925G>A (p.Ser2642Asn) single nucleotide variant not provided [RCV002700308] Chr21:46430518 [GRCh38]
Chr21:47850432 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8542del (p.Glu2848fs) deletion not provided [RCV002594109] Chr21:46432005 [GRCh38]
Chr21:47851919 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.2473G>T (p.Glu825Ter) single nucleotide variant not provided [RCV003041400] Chr21:46363798 [GRCh38]
Chr21:47783713 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.1168G>T (p.Glu390Ter) single nucleotide variant not provided [RCV002851784] Chr21:46349147 [GRCh38]
Chr21:47769061 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.5280G>A (p.Val1760=) single nucleotide variant PCNT-related disorder [RCV003916709]|not provided [RCV003005363] Chr21:46411353 [GRCh38]
Chr21:47831267 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.976+18G>A single nucleotide variant not provided [RCV002573793] Chr21:46347016 [GRCh38]
Chr21:47766930 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7772A>G (p.Lys2591Arg) single nucleotide variant not provided [RCV003039792] Chr21:46430091 [GRCh38]
Chr21:47850005 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2779T>A (p.Leu927Met) single nucleotide variant Inborn genetic diseases [RCV002826594] Chr21:46366753 [GRCh38]
Chr21:47786668 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6914C>A (p.Thr2305Lys) single nucleotide variant Inborn genetic diseases [RCV005382469]|not provided [RCV002765529] Chr21:46416832 [GRCh38]
Chr21:47836746 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6021G>A (p.Thr2007=) single nucleotide variant PCNT-related disorder [RCV003906454]|not provided [RCV003058424] Chr21:46412863 [GRCh38]
Chr21:47832777 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6344G>C (p.Cys2115Ser) single nucleotide variant PCNT-related disorder [RCV003409919]|not provided [RCV002740660] Chr21:46416262 [GRCh38]
Chr21:47836176 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.444_445insTGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACCGGAACAGCGTGGGATGTTCACAGTCGGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGTC (p.Val148_Ser149insCysAspHisProProGluGlnHisGlyMetPheThrValSerAspHisProProGluGlnArgGlyMetPheThrValGlyAspHisProProGluGlnArgGlyMetPheThrVal) insertion not provided [RCV002745322] Chr21:46334518..46334519 [GRCh38]
Chr21:47754432..47754433 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1344+16G>C single nucleotide variant not provided [RCV002741426] Chr21:46349836 [GRCh38]
Chr21:47769750 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1618C>T (p.Leu540=) single nucleotide variant PCNT-related disorder [RCV004741312]|not provided [RCV002642321] Chr21:46353265 [GRCh38]
Chr21:47773179 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6150+11G>T single nucleotide variant not provided [RCV002982923] Chr21:46413003 [GRCh38]
Chr21:47832917 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3312+7_3312+10dup duplication not provided [RCV003040642] Chr21:46381846..46381847 [GRCh38]
Chr21:47801761..47801762 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6383_6384insGTGTGATGCCAATACAGCCACGGGGGGTGTAACTGATGTTATCAAAAATCAGGCCATAGACGC (p.Thr2154_Thr2155insAlaThrGlyGlyValThrAspValIleLysAsnGlnAlaIleAspAlaCysAspAlaAsnThr) insertion not provided [RCV002642602] Chr21:46416300..46416301 [GRCh38]
Chr21:47836214..47836215 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9347G>A (p.Arg3116Gln) single nucleotide variant not provided [RCV002623810] Chr21:46440156 [GRCh38]
Chr21:47860069 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.267+13A>G single nucleotide variant not provided [RCV002851645] Chr21:46326602 [GRCh38]
Chr21:47746516 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6810G>T (p.Gln2270His) single nucleotide variant Inborn genetic diseases [RCV002930485] Chr21:46416728 [GRCh38]
Chr21:47836642 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6496T>G (p.Trp2166Gly) single nucleotide variant not provided [RCV003024579] Chr21:46416414 [GRCh38]
Chr21:47836328 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2528C>T (p.Pro843Leu) single nucleotide variant Inborn genetic diseases [RCV002986560]|PCNT-related disorder [RCV003420495] Chr21:46363853 [GRCh38]
Chr21:47783768 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9994C>G (p.Pro3332Ala) single nucleotide variant not provided [RCV002643098] Chr21:46445310 [GRCh38]
Chr21:47865223 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8231A>T (p.Gln2744Leu) single nucleotide variant Inborn genetic diseases [RCV002985672]|PCNT-related disorder [RCV003410015]|not provided [RCV002985673] Chr21:46431695 [GRCh38]
Chr21:47851609 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6922-4_6922-2del deletion PCNT-related disorder [RCV003898589]|not provided [RCV002931873] Chr21:46418199..46418201 [GRCh38]
Chr21:47838113..47838115 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6512C>T (p.Pro2171Leu) single nucleotide variant not provided [RCV002711108] Chr21:46416430 [GRCh38]
Chr21:47836344 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1321_1322del (p.Ser441fs) microsatellite not provided [RCV002985452] Chr21:46349793..46349794 [GRCh38]
Chr21:47769707..47769708 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.7362G>A (p.Leu2454=) single nucleotide variant not provided [RCV002957618] Chr21:46427663 [GRCh38]
Chr21:47847577 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5518C>T (p.Arg1840Cys) single nucleotide variant Inborn genetic diseases [RCV004958861]|PCNT-related disorder [RCV004741353]|not provided [RCV002957661] Chr21:46411591 [GRCh38]
Chr21:47831505 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.550A>G (p.Met184Val) single nucleotide variant not provided [RCV002666771] Chr21:46334679 [GRCh38]
Chr21:47754593 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7025-17C>A single nucleotide variant not provided [RCV002573737] Chr21:46421953 [GRCh38]
Chr21:47841867 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.9554A>G (p.Glu3185Gly) single nucleotide variant PCNT-related disorder [RCV004741307]|not provided [RCV002593784] Chr21:46441015 [GRCh38]
Chr21:47860928 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7914-13T>C single nucleotide variant not provided [RCV002573765] Chr21:46430494 [GRCh38]
Chr21:47850408 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1481G>C (p.Arg494Pro) single nucleotide variant PCNT-related disorder [RCV004741416]|not provided [RCV002624193] Chr21:46353128 [GRCh38]
Chr21:47773042 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1907G>A (p.Arg636His) single nucleotide variant not provided [RCV002596569] Chr21:46355597 [GRCh38]
Chr21:47775512 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5667C>T (p.Ala1889=) single nucleotide variant PCNT-related disorder [RCV003926707]|not provided [RCV003082707] Chr21:46411740 [GRCh38]
Chr21:47831654 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5698C>G (p.Arg1900Gly) single nucleotide variant not provided [RCV002890923] Chr21:46411771 [GRCh38]
Chr21:47831685 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1259G>A (p.Arg420His) single nucleotide variant not provided [RCV002765941] Chr21:46349735 [GRCh38]
Chr21:47769649 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4585-2A>T single nucleotide variant not provided [RCV002829186] Chr21:46399588 [GRCh38]
Chr21:47819502 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.5682C>T (p.Val1894=) single nucleotide variant not provided [RCV002701183] Chr21:46411755 [GRCh38]
Chr21:47831669 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9752C>T (p.Pro3251Leu) single nucleotide variant Inborn genetic diseases [RCV002763907]|Microcephalic osteodysplastic primordial dwarfism type II [RCV003485835]|PCNT-related disorder [RCV004741443]|not provided [RCV005099178] Chr21:46443861 [GRCh38]
Chr21:47863774 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3464+19C>G single nucleotide variant not provided [RCV003023741] Chr21:46386002 [GRCh38]
Chr21:47805917 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6561C>T (p.Asp2187=) single nucleotide variant not provided [RCV002598539] Chr21:46416479 [GRCh38]
Chr21:47836393 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5751C>T (p.Pro1917=) single nucleotide variant PCNT-related disorder [RCV003918905]|not provided [RCV002578930] Chr21:46411824 [GRCh38]
Chr21:47831738 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7740C>T (p.Asp2580=) single nucleotide variant not provided [RCV003047996] Chr21:46430059 [GRCh38]
Chr21:47849973 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6205C>G (p.Gln2069Glu) single nucleotide variant PCNT-related disorder [RCV003898473]|not provided [RCV002675525] Chr21:46416123 [GRCh38]
Chr21:47836037 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3342C>T (p.His1114=) single nucleotide variant not provided [RCV002631785] Chr21:46385861 [GRCh38]
Chr21:47805776 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8364C>T (p.His2788=) single nucleotide variant not provided [RCV002631254] Chr21:46431828 [GRCh38]
Chr21:47851742 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5431C>A (p.Arg1811Ser) single nucleotide variant not provided [RCV002721281] Chr21:46411504 [GRCh38]
Chr21:47831418 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8685G>A (p.Ala2895=) single nucleotide variant PCNT-related disorder [RCV003936457]|not provided [RCV002966772] Chr21:46432149 [GRCh38]
Chr21:47852063 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8004G>T (p.Gln2668His) single nucleotide variant Inborn genetic diseases [RCV002836181]|PCNT-related disorder [RCV004741431] Chr21:46430597 [GRCh38]
Chr21:47850511 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3464+19C>T single nucleotide variant not provided [RCV002630402] Chr21:46386002 [GRCh38]
Chr21:47805917 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3442G>A (p.Val1148Ile) single nucleotide variant not provided [RCV002675838] Chr21:46385961 [GRCh38]
Chr21:47805876 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2603G>A (p.Arg868Gln) single nucleotide variant Inborn genetic diseases [RCV004654155]|PCNT-related disorder [RCV004741414]|not provided [RCV002632882] Chr21:46363928 [GRCh38]
Chr21:47783843 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.1438A>G (p.Ser480Gly) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003611623]|PCNT-related disorder [RCV003926629]|not provided [RCV002963385] Chr21:46351522 [GRCh38]
Chr21:47771436 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.459_536del (p.His156_Gln181del) deletion not provided [RCV002835154] Chr21:46334585..46334662 [GRCh38]
Chr21:47754499..47754576 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6515A>G (p.Asp2172Gly) single nucleotide variant not provided [RCV003090525] Chr21:46416433 [GRCh38]
Chr21:47836347 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1171T>G (p.Leu391Val) single nucleotide variant Inborn genetic diseases [RCV002934934] Chr21:46349150 [GRCh38]
Chr21:47769064 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6073G>A (p.Val2025Ile) single nucleotide variant Inborn genetic diseases [RCV004661581]|PCNT-related disorder [RCV003427576]|not provided [RCV002632592] Chr21:46412915 [GRCh38]
Chr21:47832829 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.9978A>G (p.Ser3326=) single nucleotide variant not provided [RCV002579952] Chr21:46445294 [GRCh38]
Chr21:47865207 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8187C>T (p.Cys2729=) single nucleotide variant not provided [RCV002597532] Chr21:46431651 [GRCh38]
Chr21:47851565 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7025-8G>A single nucleotide variant not provided [RCV002631475] Chr21:46421962 [GRCh38]
Chr21:47841876 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9346C>T (p.Arg3116Trp) single nucleotide variant Inborn genetic diseases [RCV002674547]|PCNT-related disorder [RCV004741439] Chr21:46440155 [GRCh38]
Chr21:47860068 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2609+17G>A single nucleotide variant not provided [RCV002650385] Chr21:46363951 [GRCh38]
Chr21:47783866 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7024+1G>C single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005025890]|PCNT-related disorder [RCV004725324]|not provided [RCV002602144] Chr21:46418307 [GRCh38]
Chr21:47838221 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.6707T>C (p.Leu2236Pro) single nucleotide variant Inborn genetic diseases [RCV002935175] Chr21:46416625 [GRCh38]
Chr21:47836539 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3064A>G (p.Lys1022Glu) single nucleotide variant not provided [RCV003027781] Chr21:46367038 [GRCh38]
Chr21:47786953 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8959del (p.Arg2987fs) deletion not provided [RCV002833512] Chr21:46436109 [GRCh38]
Chr21:47856022 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.7180-18C>T single nucleotide variant not provided [RCV002806049] Chr21:46425813 [GRCh38]
Chr21:47845727 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1118T>C (p.Met373Thr) single nucleotide variant Inborn genetic diseases [RCV002896574] Chr21:46349097 [GRCh38]
Chr21:47769011 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6882T>C (p.Ser2294=) single nucleotide variant PCNT-related disorder [RCV003926740]|not provided [RCV002628740] Chr21:46416800 [GRCh38]
Chr21:47836714 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8983C>T (p.Gln2995Ter) single nucleotide variant not provided [RCV003061906] Chr21:46436135 [GRCh38]
Chr21:47856048 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.4484T>C (p.Phe1495Ser) single nucleotide variant not provided [RCV002716468] Chr21:46398051 [GRCh38]
Chr21:47817965 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4132G>A (p.Glu1378Lys) single nucleotide variant not provided [RCV002717362] Chr21:46391292 [GRCh38]
Chr21:47811207 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2852C>A (p.Thr951Lys) single nucleotide variant not provided [RCV002598016] Chr21:46366826 [GRCh38]
Chr21:47786741 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7366_7369dup (p.Val2457fs) duplication not provided [RCV002895355] Chr21:46427665..46427666 [GRCh38]
Chr21:47847579..47847580 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.5424_5510del (p.Asp1808_Ala1836del) deletion PCNT-related disorder [RCV004741363]|not provided [RCV002988766] Chr21:46411488..46411574 [GRCh38]
Chr21:47831402..47831488 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1032+13G>A single nucleotide variant not provided [RCV002597816] Chr21:46347525 [GRCh38]
Chr21:47767439 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5479G>T (p.Ala1827Ser) single nucleotide variant Inborn genetic diseases [RCV002577373]|PCNT-related disorder [RCV003403858]|not provided [RCV002577374] Chr21:46411552 [GRCh38]
Chr21:47831466 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3799G>T (p.Val1267Leu) single nucleotide variant Inborn genetic diseases [RCV002959853] Chr21:46389390 [GRCh38]
Chr21:47809305 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6769G>A (p.Asp2257Asn) single nucleotide variant Inborn genetic diseases [RCV004652017]|PCNT-related disorder [RCV004741321]|not provided [RCV002671726] Chr21:46416687 [GRCh38]
Chr21:47836601 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3607+11C>T single nucleotide variant not provided [RCV002672002] Chr21:46388895 [GRCh38]
Chr21:47808810 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.403G>A (p.Val135Ile) single nucleotide variant not provided [RCV002938053] Chr21:46334532 [GRCh38]
Chr21:47754446 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3166-8G>A single nucleotide variant PCNT-related disorder [RCV003936286]|not provided [RCV002632019] Chr21:46381686 [GRCh38]
Chr21:47801601 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9752dup (p.Thr3252fs) duplication PCNT-related disorder [RCV004741356]|not provided [RCV002961919] Chr21:46443854..46443855 [GRCh38]
Chr21:47863767..47863768 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3558C>T (p.Arg1186=) single nucleotide variant not provided [RCV002578716] Chr21:46388835 [GRCh38]
Chr21:47808750 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3165+8G>T single nucleotide variant PCNT-related disorder [RCV003943807]|not provided [RCV003090432] Chr21:46367147 [GRCh38]
Chr21:47787062 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7137G>A (p.Pro2379=) single nucleotide variant not provided [RCV002675756] Chr21:46422082 [GRCh38]
Chr21:47841996 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5478C>T (p.Gly1826=) single nucleotide variant PCNT-related disorder [RCV003963637]|not provided [RCV003086670] Chr21:46411551 [GRCh38]
Chr21:47831465 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6601C>T (p.Arg2201Cys) single nucleotide variant Inborn genetic diseases [RCV002577306]|not provided [RCV002577305] Chr21:46416519 [GRCh38]
Chr21:47836433 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.3535C>T (p.Leu1179=) single nucleotide variant PCNT-related disorder [RCV004725309]|not provided [RCV002576859] Chr21:46388812 [GRCh38]
Chr21:47808727 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5810_5811inv (p.His1937Arg) inversion not provided [RCV002933898] Chr21:46411883..46411884 [GRCh38]
Chr21:47831797..47831798 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1670_1671del (p.Val557fs) microsatellite not provided [RCV002598038] Chr21:46353315..46353316 [GRCh38]
Chr21:47773229..47773230 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.8939A>G (p.Gln2980Arg) single nucleotide variant Inborn genetic diseases [RCV002628285]|not provided [RCV002628286] Chr21:46436091 [GRCh38]
Chr21:47856004 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4004-14T>G single nucleotide variant not provided [RCV003047611] Chr21:46391150 [GRCh38]
Chr21:47811065 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6559G>T (p.Asp2187Tyr) single nucleotide variant PCNT-related disorder [RCV004741386]|not provided [RCV003061201] Chr21:46416477 [GRCh38]
Chr21:47836391 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.671C>G (p.Thr224Ser) single nucleotide variant not provided [RCV003028001] Chr21:46346159 [GRCh38]
Chr21:47766073 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3981G>A (p.Ala1327=) single nucleotide variant PCNT-related disorder [RCV003898733]|not provided [RCV003063115] Chr21:46390810 [GRCh38]
Chr21:47810725 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.419C>T (p.Pro140Leu) single nucleotide variant Inborn genetic diseases [RCV004072073]|PCNT-related disorder [RCV003420395]|not provided [RCV002629552] Chr21:46334548 [GRCh38]
Chr21:47754462 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7884C>T (p.Cys2628=) single nucleotide variant PCNT-related disorder [RCV003936454]|not provided [RCV002966185] Chr21:46430203 [GRCh38]
Chr21:47850117 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2782G>C (p.Gly928Arg) single nucleotide variant not provided [RCV002834391] Chr21:46366756 [GRCh38]
Chr21:47786671 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3667T>A (p.Ser1223Thr) single nucleotide variant Inborn genetic diseases [RCV002808735] Chr21:46389258 [GRCh38]
Chr21:47809173 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.573A>C (p.Thr191=) single nucleotide variant not provided [RCV002810571] Chr21:46334702 [GRCh38]
Chr21:47754616 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6262A>C (p.Asn2088His) single nucleotide variant not provided [RCV002810891] Chr21:46416180 [GRCh38]
Chr21:47836094 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3785G>A (p.Ser1262Asn) single nucleotide variant Inborn genetic diseases [RCV002965808]|PCNT-related disorder [RCV003954021] Chr21:46389376 [GRCh38]
Chr21:47809291 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3804C>T (p.Asp1268=) single nucleotide variant PCNT-related disorder [RCV003936551]|not provided [RCV003086556] Chr21:46389395 [GRCh38]
Chr21:47809310 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1033-20T>G single nucleotide variant not provided [RCV002833370] Chr21:46348992 [GRCh38]
Chr21:47768906 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2695C>T (p.Arg899Cys) single nucleotide variant PCNT-related disorder [RCV004741411]|not provided [RCV002632650] Chr21:46366669 [GRCh38]
Chr21:47786584 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3464+17C>T single nucleotide variant not provided [RCV002834534] Chr21:46386000 [GRCh38]
Chr21:47805915 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2785G>A (p.Glu929Lys) single nucleotide variant PCNT-related disorder [RCV003409996]|not provided [RCV002966631] Chr21:46366759 [GRCh38]
Chr21:47786674 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8461C>T (p.Gln2821Ter) single nucleotide variant not provided [RCV002577099] Chr21:46431925 [GRCh38]
Chr21:47851839 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.143_146dup (p.Gln51fs) duplication not provided [RCV003031710] Chr21:46326464..46326465 [GRCh38]
Chr21:47746378..47746379 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.2964G>T (p.Gln988His) single nucleotide variant not provided [RCV002646499] Chr21:46366938 [GRCh38]
Chr21:47786853 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4569G>A (p.Ala1523=) single nucleotide variant not provided [RCV002577473] Chr21:46398240 [GRCh38]
Chr21:47818154 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1552C>A (p.Gln518Lys) single nucleotide variant not provided [RCV002650782] Chr21:46353199 [GRCh38]
Chr21:47773113 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3118A>G (p.Thr1040Ala) single nucleotide variant not provided [RCV002602595] Chr21:46367092 [GRCh38]
Chr21:47787007 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2062C>T (p.Leu688Phe) single nucleotide variant Inborn genetic diseases [RCV002648308]|Microcephalic osteodysplastic primordial dwarfism type II [RCV003111636]|PCNT-related disorder [RCV003420401]|not provided [RCV005099447] Chr21:46357099 [GRCh38]
Chr21:47777014 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.9757C>T (p.Arg3253Trp) single nucleotide variant Inborn genetic diseases [RCV002896641] Chr21:46443866 [GRCh38]
Chr21:47863779 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8851C>T (p.Arg2951Cys) single nucleotide variant Inborn genetic diseases [RCV003071286]|Microcephalic osteodysplastic primordial dwarfism type II [RCV005028164]|PCNT-related disorder [RCV004741383]|not provided [RCV003064875] Chr21:46436003 [GRCh38]
Chr21:47855916 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2056A>G (p.Thr686Ala) single nucleotide variant Inborn genetic diseases [RCV003170733]|PCNT-related disorder [RCV003961300]|not provided [RCV002962026] Chr21:46357093 [GRCh38]
Chr21:47777008 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6379G>A (p.Asp2127Asn) single nucleotide variant not provided [RCV002602308] Chr21:46416297 [GRCh38]
Chr21:47836211 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4597C>A (p.Gln1533Lys) single nucleotide variant not provided [RCV002577312] Chr21:46399602 [GRCh38]
Chr21:47819516 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1680G>A (p.Gly560=) single nucleotide variant not provided [RCV002646225] Chr21:46353987 [GRCh38]
Chr21:47773901 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5370C>A (p.Gly1790=) single nucleotide variant not provided [RCV002806362] Chr21:46411443 [GRCh38]
Chr21:47831357 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9963A>G (p.Leu3321=) single nucleotide variant not provided [RCV002898928] Chr21:46444817 [GRCh38]
Chr21:47864730 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2298G>A (p.Lys766=) single nucleotide variant PCNT-related disorder [RCV003903731]|not provided [RCV002601927] Chr21:46363623 [GRCh38]
Chr21:47783538 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6020C>T (p.Thr2007Met) single nucleotide variant Inborn genetic diseases [RCV002717915] Chr21:46412862 [GRCh38]
Chr21:47832776 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3313-5G>A single nucleotide variant not provided [RCV002576469] Chr21:46385827 [GRCh38]
Chr21:47805742 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9179G>A (p.Ser3060Asn) single nucleotide variant not provided [RCV002811062] Chr21:46438243 [GRCh38]
Chr21:47858156 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4810A>G (p.Lys1604Glu) single nucleotide variant not provided [RCV002832994] Chr21:46401569 [GRCh38]
Chr21:47821483 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2900G>A (p.Ser967Asn) single nucleotide variant Inborn genetic diseases [RCV002935768] Chr21:46366874 [GRCh38]
Chr21:47786789 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7131G>A (p.Pro2377=) single nucleotide variant PCNT-related disorder [RCV004741308]|not provided [RCV002597479] Chr21:46422076 [GRCh38]
Chr21:47841990 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7494+17C>T single nucleotide variant not provided [RCV002602105] Chr21:46427812 [GRCh38]
Chr21:47847726 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2132G>A (p.Arg711His) single nucleotide variant Inborn genetic diseases [RCV004070174]|not provided [RCV003066477] Chr21:46357169 [GRCh38]
Chr21:47777084 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.4370C>T (p.Ala1457Val) single nucleotide variant Inborn genetic diseases [RCV002722830]|not provided [RCV005059233] Chr21:46397418 [GRCh38]
Chr21:47817332 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9216C>T (p.Ala3072=) single nucleotide variant not provided [RCV002603197] Chr21:46438280 [GRCh38]
Chr21:47858193 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3608-20G>A single nucleotide variant not provided [RCV002653435] Chr21:46389179 [GRCh38]
Chr21:47809094 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4731A>T (p.Lys1577Asn) single nucleotide variant not provided [RCV002943523] Chr21:46399736 [GRCh38]
Chr21:47819650 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6095C>T (p.Ser2032Leu) single nucleotide variant Inborn genetic diseases [RCV002653029]|PCNT-related disorder [RCV004741316]|not provided [RCV002653028] Chr21:46412937 [GRCh38]
Chr21:47832851 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6150+82_6150+83insAAGGCCCACCCGGGAGAGGCTGGACACGTGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCAC microsatellite not provided [RCV002583686] Chr21:46413003..46413004 [GRCh38]
Chr21:47832917..47832918 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8422C>A (p.Leu2808Ile) single nucleotide variant Inborn genetic diseases [RCV002725567]|not provided [RCV002725566] Chr21:46431886 [GRCh38]
Chr21:47851800 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5943C>T (p.Asp1981=) single nucleotide variant not provided [RCV002582255] Chr21:46412016 [GRCh38]
Chr21:47831930 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8941C>T (p.Arg2981Trp) single nucleotide variant not provided [RCV002608314] Chr21:46436093 [GRCh38]
Chr21:47856006 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6445G>A (p.Ala2149Thr) single nucleotide variant Inborn genetic diseases [RCV002652923] Chr21:46416363 [GRCh38]
Chr21:47836277 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1762-15G>A single nucleotide variant not provided [RCV002585892] Chr21:46355437 [GRCh38]
Chr21:47775352 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.406_444dup (p.Val148_Ser149insGlyAspHisProProGluGlnArgGlyMetPheThrVal) duplication PCNT-related disorder [RCV003404075]|not provided [RCV003070368] Chr21:46334518..46334519 [GRCh38]
Chr21:47754432..47754433 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2638G>A (p.Glu880Lys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005032327]|PCNT-related disorder [RCV003943441]|not provided [RCV002587796] Chr21:46366612 [GRCh38]
Chr21:47786527 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8182C>T (p.Arg2728Cys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003611624]|PCNT-related disorder [RCV003943766]|not provided [RCV003072878] Chr21:46431646 [GRCh38]
Chr21:47851560 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6250A>G (p.Met2084Val) single nucleotide variant not provided [RCV002608545] Chr21:46416168 [GRCh38]
Chr21:47836082 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1447G>A (p.Glu483Lys) single nucleotide variant not provided [RCV002603977] Chr21:46351531 [GRCh38]
Chr21:47771445 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9556C>T (p.Arg3186Trp) single nucleotide variant PCNT-related disorder [RCV003410097]|not provided [RCV002605845] Chr21:46441017 [GRCh38]
Chr21:47860930 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2609+4G>A single nucleotide variant PCNT-related disorder [RCV004741304]|not provided [RCV002589509] Chr21:46363938 [GRCh38]
Chr21:47783853 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.9756C>G (p.Thr3252=) single nucleotide variant PCNT-related disorder [RCV004741377]|not provided [RCV003070757] Chr21:46443865 [GRCh38]
Chr21:47863778 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2580C>T (p.Cys860=) single nucleotide variant PCNT-related disorder [RCV003936566]|not provided [RCV002588017] Chr21:46363905 [GRCh38]
Chr21:47783820 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8752-12T>G single nucleotide variant not provided [RCV002814578] Chr21:46435892 [GRCh38]
Chr21:47855805 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8813T>C (p.Val2938Ala) single nucleotide variant not provided [RCV002604561] Chr21:46435965 [GRCh38]
Chr21:47855878 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1761+15G>A single nucleotide variant not provided [RCV002586212] Chr21:46354083 [GRCh38]
Chr21:47773997 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1729C>T (p.His577Tyr) single nucleotide variant PCNT-related disorder [RCV003936553]|not provided [RCV003092811] Chr21:46354036 [GRCh38]
Chr21:47773950 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5410C>T (p.Arg1804Trp) single nucleotide variant PCNT-related disorder [RCV004741400]|not provided [RCV002585349] Chr21:46411483 [GRCh38]
Chr21:47831397 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7204G>A (p.Glu2402Lys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005025882]|not provided [RCV002590153] Chr21:46425855 [GRCh38]
Chr21:47845769 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4352G>A (p.Arg1451His) single nucleotide variant Inborn genetic diseases [RCV003349039]|PCNT-related disorder [RCV003963674]|not provided [RCV002602949] Chr21:46397400 [GRCh38]
Chr21:47817314 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8852G>A (p.Arg2951His) single nucleotide variant Inborn genetic diseases [RCV003072354]|PCNT-related disorder [RCV003953864]|not provided [RCV003072353] Chr21:46436004 [GRCh38]
Chr21:47855917 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7246C>A (p.Pro2416Thr) single nucleotide variant PCNT-related disorder [RCV003418565]|not provided [RCV002604249] Chr21:46425897 [GRCh38]
Chr21:47845811 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7180-17G>T single nucleotide variant not provided [RCV002586489] Chr21:46425814 [GRCh38]
Chr21:47845728 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.7188G>A (p.Leu2396=) single nucleotide variant PCNT-related disorder [RCV004741410]|not provided [RCV002603256] Chr21:46425839 [GRCh38]
Chr21:47845753 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4620G>A (p.Leu1540=) single nucleotide variant not provided [RCV002943813] Chr21:46399625 [GRCh38]
Chr21:47819539 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6055G>A (p.Val2019Met) single nucleotide variant PCNT-related disorder [RCV004741415]|not provided [RCV002607637] Chr21:46412897 [GRCh38]
Chr21:47832811 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9710C>A (p.Ala3237Glu) single nucleotide variant PCNT-related disorder [RCV004725482]|not provided [RCV003050138] Chr21:46443819 [GRCh38]
Chr21:47863732 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9799C>T (p.Arg3267Cys) single nucleotide variant PCNT-related disorder [RCV004741302]|not provided [RCV002583919] Chr21:46443908 [GRCh38]
Chr21:47863821 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8872C>T (p.Arg2958Cys) single nucleotide variant Inborn genetic diseases [RCV002611634]|PCNT-related disorder [RCV003420370]|not provided [RCV002611635] Chr21:46436024 [GRCh38]
Chr21:47855937 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1491T>C (p.Arg497=) single nucleotide variant not provided [RCV002681038] Chr21:46353138 [GRCh38]
Chr21:47773052 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1323C>T (p.Ser441=) single nucleotide variant not provided [RCV002608139] Chr21:46349799 [GRCh38]
Chr21:47769713 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7380C>T (p.Ala2460=) single nucleotide variant not provided [RCV002609964] Chr21:46427681 [GRCh38]
Chr21:47847595 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9623+14C>T single nucleotide variant not provided [RCV002589588] Chr21:46441098 [GRCh38]
Chr21:47861011 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2385A>G (p.Glu795=) single nucleotide variant not provided [RCV002590128] Chr21:46363710 [GRCh38]
Chr21:47783625 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9611T>C (p.Ile3204Thr) single nucleotide variant Inborn genetic diseases [RCV004246036]|Microcephalic osteodysplastic primordial dwarfism type II [RCV003131888] Chr21:46441072 [GRCh38]
Chr21:47860985 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8114G>T (p.Cys2705Phe) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003131887] Chr21:46431578 [GRCh38]
Chr21:47851492 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8896G>A (p.Asp2966Asn) single nucleotide variant Inborn genetic diseases [RCV003281264] Chr21:46436048 [GRCh38]
Chr21:47855961 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8339T>G (p.Val2780Gly) single nucleotide variant Inborn genetic diseases [RCV003214902]|PCNT-related disorder [RCV003395722]|not provided [RCV004696392] Chr21:46431803 [GRCh38]
Chr21:47851717 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8777G>C (p.Arg2926Pro) single nucleotide variant Inborn genetic diseases [RCV003186544] Chr21:46435929 [GRCh38]
Chr21:47855842 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8603C>T (p.Pro2868Leu) single nucleotide variant Inborn genetic diseases [RCV003192338]|PCNT-related disorder [RCV004741468] Chr21:46432067 [GRCh38]
Chr21:47851981 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1729C>A (p.His577Asn) single nucleotide variant Inborn genetic diseases [RCV003217698] Chr21:46354036 [GRCh38]
Chr21:47773950 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9823C>T (p.Pro3275Ser) single nucleotide variant Inborn genetic diseases [RCV003203618] Chr21:46443932 [GRCh38]
Chr21:47863845 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2776G>A (p.Ala926Thr) single nucleotide variant Inborn genetic diseases [RCV003205237] Chr21:46366750 [GRCh38]
Chr21:47786665 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3373G>A (p.Val1125Met) single nucleotide variant Inborn genetic diseases [RCV003205636] Chr21:46385892 [GRCh38]
Chr21:47805807 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3961G>A (p.Ala1321Thr) single nucleotide variant Inborn genetic diseases [RCV003206274] Chr21:46390790 [GRCh38]
Chr21:47810705 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5873A>T (p.His1958Leu) single nucleotide variant Inborn genetic diseases [RCV003206275]|PCNT-related disorder [RCV003420611] Chr21:46411946 [GRCh38]
Chr21:47831860 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.10000dup (p.Ile3334fs) duplication Microcephalic osteodysplastic primordial dwarfism type II [RCV003134771] Chr21:46445315..46445316 [GRCh38]
Chr21:47865228..47865229 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9673C>G (p.Leu3225Val) single nucleotide variant Inborn genetic diseases [RCV004961201]|Microcephalic osteodysplastic primordial dwarfism type II [RCV003134772]|PCNT-related disorder [RCV004741457] Chr21:46442546 [GRCh38]
Chr21:47862459 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9998T>A (p.Met3333Lys) single nucleotide variant Inborn genetic diseases [RCV003283300] Chr21:46445314 [GRCh38]
Chr21:47865227 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7601A>G (p.Gln2534Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003142660] Chr21:46428501 [GRCh38]
Chr21:47848415 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2317G>T (p.Glu773Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003153239] Chr21:46363642 [GRCh38]
Chr21:47783557 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.5158A>G (p.Thr1720Ala) single nucleotide variant Inborn genetic diseases [RCV003183438]|PCNT-related disorder [RCV003973776] Chr21:46411231 [GRCh38]
Chr21:47831145 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2494G>A (p.Asp832Asn) single nucleotide variant Inborn genetic diseases [RCV003195931]|PCNT-related disorder [RCV003420609] Chr21:46363819 [GRCh38]
Chr21:47783734 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2266A>G (p.Lys756Glu) single nucleotide variant Inborn genetic diseases [RCV003175514]|PCNT-related disorder [RCV004741465] Chr21:46363591 [GRCh38]
Chr21:47783506 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3008A>C (p.Lys1003Thr) single nucleotide variant Inborn genetic diseases [RCV003188882] Chr21:46366982 [GRCh38]
Chr21:47786897 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1034C>T (p.Thr345Ile) single nucleotide variant Inborn genetic diseases [RCV003188901] Chr21:46349013 [GRCh38]
Chr21:47768927 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9023A>G (p.Asn3008Ser) single nucleotide variant Inborn genetic diseases [RCV003265346] Chr21:46437005 [GRCh38]
Chr21:47856918 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9388G>A (p.Val3130Ile) single nucleotide variant Inborn genetic diseases [RCV003309325]|PCNT-related disorder [RCV003410334] Chr21:46440197 [GRCh38]
Chr21:47860110 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9961C>T (p.Leu3321=) single nucleotide variant not provided [RCV003568885] Chr21:46444815 [GRCh38]
Chr21:47864728 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6578C>G (p.Pro2193Arg) single nucleotide variant Inborn genetic diseases [RCV003265495] Chr21:46416496 [GRCh38]
Chr21:47836410 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1345-1G>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003326719] Chr21:46351428 [GRCh38]
Chr21:47771342 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.5174A>C (p.Gln1725Pro) single nucleotide variant Inborn genetic diseases [RCV003357482] Chr21:46411247 [GRCh38]
Chr21:47831161 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3755G>T (p.Cys1252Phe) single nucleotide variant Inborn genetic diseases [RCV003360449] Chr21:46389346 [GRCh38]
Chr21:47809261 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1997G>C (p.Arg666Pro) single nucleotide variant Inborn genetic diseases [RCV005382628]|PCNT-related disorder [RCV003420692] Chr21:46357034 [GRCh38]
Chr21:47776949 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4057G>A (p.Gly1353Arg) single nucleotide variant Inborn genetic diseases [RCV005382643]|PCNT-related disorder [RCV003420971] Chr21:46391217 [GRCh38]
Chr21:47811132 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2834G>T (p.Arg945Leu) single nucleotide variant Inborn genetic diseases [RCV004364448]|PCNT-related disorder [RCV003393076] Chr21:46366808 [GRCh38]
Chr21:47786723 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9598G>A (p.Val3200Ile) single nucleotide variant Inborn genetic diseases [RCV003349259]|PCNT-related disorder [RCV004741489] Chr21:46441059 [GRCh38]
Chr21:47860972 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7802C>T (p.Ala2601Val) single nucleotide variant Inborn genetic diseases [RCV003361628] Chr21:46430121 [GRCh38]
Chr21:47850035 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7432G>C (p.Gly2478Arg) single nucleotide variant Inborn genetic diseases [RCV003367523]|PCNT-related disorder [RCV004723287] Chr21:46427733 [GRCh38]
Chr21:47847647 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9710C>T (p.Ala3237Val) single nucleotide variant Inborn genetic diseases [RCV003373461] Chr21:46443819 [GRCh38]
Chr21:47863732 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6024G>C (p.Leu2008Phe) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003445339] Chr21:46412866 [GRCh38]
Chr21:47832780 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1679+14T>C single nucleotide variant not provided [RCV003543676] Chr21:46353340 [GRCh38]
Chr21:47773254 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8616G>A (p.Gln2872=) single nucleotide variant not provided [RCV003569776] Chr21:46432080 [GRCh38]
Chr21:47851994 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1457-7G>A single nucleotide variant PCNT-related disorder [RCV003984450]|not provided [RCV003874476] Chr21:46353097 [GRCh38]
Chr21:47773011 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4486C>T (p.Gln1496Ter) single nucleotide variant not provided [RCV003686457] Chr21:46398053 [GRCh38]
Chr21:47817967 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3313-15C>G single nucleotide variant not provided [RCV003712612] Chr21:46385817 [GRCh38]
Chr21:47805732 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3295_3312+14del deletion not provided [RCV003690874] Chr21:46381822..46381853 [GRCh38]
Chr21:47801737..47801768 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.9339C>T (p.Asp3113=) single nucleotide variant not provided [RCV003569586] Chr21:46440148 [GRCh38]
Chr21:47860061 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6872G>A (p.Trp2291Ter) single nucleotide variant not provided [RCV003570234] Chr21:46416790 [GRCh38]
Chr21:47836704 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.7025-15C>T single nucleotide variant not provided [RCV003543174] Chr21:46421955 [GRCh38]
Chr21:47841869 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9700+2T>C single nucleotide variant not provided [RCV003569768] Chr21:46442575 [GRCh38]
Chr21:47862488 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.1937-14C>T single nucleotide variant not provided [RCV003543469] Chr21:46356960 [GRCh38]
Chr21:47776875 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8979C>T (p.Thr2993=) single nucleotide variant not provided [RCV003570357] Chr21:46436131 [GRCh38]
Chr21:47856044 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7180-10C>G single nucleotide variant PCNT-related disorder [RCV004738951]|not provided [RCV003875097] Chr21:46425821 [GRCh38]
Chr21:47845735 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7578C>G (p.Ala2526=) single nucleotide variant not provided [RCV003571462] Chr21:46428478 [GRCh38]
Chr21:47848392 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2775C>T (p.Ala925=) single nucleotide variant not provided [RCV003874232] Chr21:46366749 [GRCh38]
Chr21:47786664 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1375C>T (p.Leu459=) single nucleotide variant PCNT-related disorder [RCV004738949]|not provided [RCV003874258] Chr21:46351459 [GRCh38]
Chr21:47771373 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.55-15T>C single nucleotide variant not provided [RCV003686307] Chr21:46326362 [GRCh38]
Chr21:47746276 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.721-20A>G single nucleotide variant not provided [RCV003875431] Chr21:46346723 [GRCh38]
Chr21:47766637 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5538G>A (p.Glu1846=) single nucleotide variant not provided [RCV003686308] Chr21:46411611 [GRCh38]
Chr21:47831525 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9100-17A>C single nucleotide variant not provided [RCV003570201] Chr21:46438147 [GRCh38]
Chr21:47858060 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5817del (p.Phe1940fs) deletion not provided [RCV003570618] Chr21:46411889 [GRCh38]
Chr21:47831803 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.5995-5T>C single nucleotide variant not provided [RCV003570469] Chr21:46412832 [GRCh38]
Chr21:47832746 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.721-8C>T single nucleotide variant PCNT-related disorder [RCV003909203]|not provided [RCV003874109] Chr21:46346735 [GRCh38]
Chr21:47766649 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5499A>G (p.Leu1833=) single nucleotide variant not provided [RCV003874738] Chr21:46411572 [GRCh38]
Chr21:47831486 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8301G>A (p.Leu2767=) single nucleotide variant not provided [RCV003874770] Chr21:46431765 [GRCh38]
Chr21:47851679 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2627_2628del (p.Lys876fs) deletion not provided [RCV003570519] Chr21:46366600..46366601 [GRCh38]
Chr21:47786515..47786516 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.7203C>T (p.Asp2401=) single nucleotide variant not provided [RCV003875463] Chr21:46425854 [GRCh38]
Chr21:47845768 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8271G>C (p.Leu2757=) single nucleotide variant not provided [RCV003543581] Chr21:46431735 [GRCh38]
Chr21:47851649 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9394-8T>C single nucleotide variant not provided [RCV003686393] Chr21:46440847 [GRCh38]
Chr21:47860760 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7860C>T (p.Ser2620=) single nucleotide variant not provided [RCV003874193] Chr21:46430179 [GRCh38]
Chr21:47850093 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8445C>G (p.Ala2815=) single nucleotide variant not provided [RCV003570610] Chr21:46431909 [GRCh38]
Chr21:47851823 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3166-20_3166-18del deletion not provided [RCV003570759] Chr21:46381672..46381674 [GRCh38]
Chr21:47801587..47801589 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5601A>G (p.Glu1867=) single nucleotide variant not provided [RCV003570929] Chr21:46411674 [GRCh38]
Chr21:47831588 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3735C>A (p.Ser1245Arg) single nucleotide variant Inborn genetic diseases [RCV004369632]|not provided [RCV003874484] Chr21:46389326 [GRCh38]
Chr21:47809241 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.24G>A (p.Arg8=) single nucleotide variant not provided [RCV003875675] Chr21:46324252 [GRCh38]
Chr21:47744166 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1457-13C>G single nucleotide variant not provided [RCV003825967] Chr21:46353091 [GRCh38]
Chr21:47773005 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8121A>G (p.Ala2707=) single nucleotide variant not provided [RCV003570785] Chr21:46431585 [GRCh38]
Chr21:47851499 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9753A>G (p.Pro3251=) single nucleotide variant not provided [RCV003542986] Chr21:46443862 [GRCh38]
Chr21:47863775 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9267C>T (p.Ser3089=) single nucleotide variant not provided [RCV003571091] Chr21:46438331 [GRCh38]
Chr21:47858244 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4629T>C (p.Phe1543=) single nucleotide variant not provided [RCV003570847] Chr21:46399634 [GRCh38]
Chr21:47819548 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6162A>G (p.Lys2054=) single nucleotide variant not provided [RCV003543055] Chr21:46416080 [GRCh38]
Chr21:47835994 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4446+17_4446+19del microsatellite not provided [RCV003542880] Chr21:46397507..46397509 [GRCh38]
Chr21:47817421..47817423 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9968-6A>G single nucleotide variant not provided [RCV003872842] Chr21:46445278 [GRCh38]
Chr21:47865191 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6538del (p.Gln2180fs) deletion not provided [RCV003569231] Chr21:46416456 [GRCh38]
Chr21:47836370 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.8085G>A (p.Glu2695=) single nucleotide variant not provided [RCV003543157] Chr21:46431549 [GRCh38]
Chr21:47851463 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6438C>T (p.Ala2146=) single nucleotide variant not provided [RCV003571265] Chr21:46416356 [GRCh38]
Chr21:47836270 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8751+10G>T single nucleotide variant not provided [RCV003872993] Chr21:46432225 [GRCh38]
Chr21:47852139 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8631G>A (p.Gln2877=) single nucleotide variant PCNT-related disorder [RCV004738943]|not provided [RCV003873409] Chr21:46432095 [GRCh38]
Chr21:47852009 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3148C>T (p.Leu1050=) single nucleotide variant not provided [RCV003569010] Chr21:46367122 [GRCh38]
Chr21:47787037 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6363C>A (p.Asp2121Glu) single nucleotide variant PCNT-related disorder [RCV003391487] Chr21:46416281 [GRCh38]
Chr21:47836195 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.353G>A (p.Gly118Glu) single nucleotide variant PCNT-related disorder [RCV003408557] Chr21:46334482 [GRCh38]
Chr21:47754396 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1907G>T (p.Arg636Leu) single nucleotide variant PCNT-related disorder [RCV003421089] Chr21:46355597 [GRCh38]
Chr21:47775512 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.598A>G (p.Ile200Val) single nucleotide variant PCNT-related disorder [RCV003408639] Chr21:46334727 [GRCh38]
Chr21:47754641 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8138C>T (p.Thr2713Met) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005230503]|PCNT-related disorder [RCV003408680]|not provided [RCV005104381] Chr21:46431602 [GRCh38]
Chr21:47851516 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.2281C>T (p.Arg761Trp) single nucleotide variant PCNT-related disorder [RCV003408701] Chr21:46363606 [GRCh38]
Chr21:47783521 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4174C>T (p.Arg1392Trp) single nucleotide variant Inborn genetic diseases [RCV005382649]|PCNT-related disorder [RCV004741499]|not provided [RCV003431605] Chr21:46391334 [GRCh38]
Chr21:47811249 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.857G>A (p.Ser286Asn) single nucleotide variant PCNT-related disorder [RCV003397607] Chr21:46346879 [GRCh38]
Chr21:47766793 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8911C>G (p.Gln2971Glu) single nucleotide variant PCNT-related disorder [RCV003403090] Chr21:46436063 [GRCh38]
Chr21:47855976 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1 copy number loss not provided [RCV003483381] Chr21:40681179..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3 copy number gain not provided [RCV003485222] Chr21:33015681..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3 copy number gain not provided [RCV003485225] Chr21:43687354..48097372 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.7034C>T (p.Ser2345Leu) single nucleotide variant PCNT-related disorder [RCV003412166]|not provided [RCV003436039] Chr21:46421979 [GRCh38]
Chr21:47841893 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6921+20C>T single nucleotide variant not provided [RCV003880297] Chr21:46416859 [GRCh38]
Chr21:47836773 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6928G>A (p.Asp2310Asn) single nucleotide variant PCNT-related disorder [RCV003399574] Chr21:46418210 [GRCh38]
Chr21:47838124 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6660C>T (p.Asp2220=) single nucleotide variant not provided [RCV003852851] Chr21:46416578 [GRCh38]
Chr21:47836492 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7736G>A (p.Gly2579Asp) single nucleotide variant PCNT-related disorder [RCV003399806] Chr21:46430055 [GRCh38]
Chr21:47849969 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7820G>A (p.Arg2607Gln) single nucleotide variant PCNT-related disorder [RCV003405964] Chr21:46430139 [GRCh38]
Chr21:47850053 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6649G>A (p.Gly2217Arg) single nucleotide variant PCNT-related disorder [RCV003419251] Chr21:46416567 [GRCh38]
Chr21:47836481 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4458C>T (p.Ala1486=) single nucleotide variant not provided [RCV003880577] Chr21:46398025 [GRCh38]
Chr21:47817939 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7799C>T (p.Ala2600Val) single nucleotide variant PCNT-related disorder [RCV003420816]|not provided [RCV005242399] Chr21:46430118 [GRCh38]
Chr21:47850032 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4003+10A>G single nucleotide variant PCNT-related disorder [RCV003397267]|not provided [RCV003669406] Chr21:46390842 [GRCh38]
Chr21:47810757 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.2559G>T (p.Ala853=) single nucleotide variant not provided [RCV003431604] Chr21:46363884 [GRCh38]
Chr21:47783799 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6446C>T (p.Ala2149Val) single nucleotide variant PCNT-related disorder [RCV003402669] Chr21:46416364 [GRCh38]
Chr21:47836278 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1147G>T (p.Glu383Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003445338] Chr21:46349126 [GRCh38]
Chr21:47769040 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.7850G>A (p.Arg2617Lys) single nucleotide variant Inborn genetic diseases [RCV004661649]|PCNT-related disorder [RCV003393062] Chr21:46430169 [GRCh38]
Chr21:47850083 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.6853G>A (p.Ala2285Thr) single nucleotide variant PCNT-related disorder [RCV003402624] Chr21:46416771 [GRCh38]
Chr21:47836685 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5699G>A (p.Arg1900His) single nucleotide variant PCNT-related disorder [RCV003419184] Chr21:46411772 [GRCh38]
Chr21:47831686 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.366C>G (p.Val122=) single nucleotide variant PCNT-related disorder [RCV003419227]|not provided [RCV003738460] Chr21:46334495 [GRCh38]
Chr21:47754409 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.8849G>A (p.Ser2950Asn) single nucleotide variant PCNT-related disorder [RCV003397598] Chr21:46436001 [GRCh38]
Chr21:47855914 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2171T>C (p.Ile724Thr) single nucleotide variant PCNT-related disorder [RCV003412070] Chr21:46363496 [GRCh38]
Chr21:47783411 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2747C>T (p.Thr916Met) single nucleotide variant Inborn genetic diseases [RCV004362840]|PCNT-related disorder [RCV003408634] Chr21:46366721 [GRCh38]
Chr21:47786636 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3545G>A (p.Arg1182Gln) single nucleotide variant Inborn genetic diseases [RCV004362841]|PCNT-related disorder [RCV003408641] Chr21:46388822 [GRCh38]
Chr21:47808737 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.349T>C (p.Cys117Arg) single nucleotide variant Inborn genetic diseases [RCV004961282]|PCNT-related disorder [RCV003408642] Chr21:46334478 [GRCh38]
Chr21:47754392 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.1848C>T (p.His616=) single nucleotide variant PCNT-related disorder [RCV003901062]|not provided [RCV003431603] Chr21:46355538 [GRCh38]
Chr21:47775453 [GRCh37]
Chr21:21q22.3		 likely benign
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
NM_006031.6(PCNT):c.5940C>T (p.Gly1980=) single nucleotide variant PCNT-related disorder [RCV003937707]|not provided [RCV001697207]|not specified [RCV000193871] Chr21:46412013 [GRCh38]
Chr21:47831927 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.9332G>A (p.Arg3111His) single nucleotide variant PCNT-related disorder [RCV003417702]|not provided [RCV001857696]|not specified [RCV000193931] Chr21:46440141 [GRCh38]
Chr21:47860054 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.405C>T (p.Val135=) single nucleotide variant PCNT-related disorder [RCV004739562]|not provided [RCV000177252] Chr21:46334534 [GRCh38]
Chr21:47754448 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006031.6(PCNT):c.418C>T (p.Pro140Ser) single nucleotide variant PCNT-related disorder [RCV004739660]|not provided [RCV000726080]|not specified [RCV002282108] Chr21:46334547 [GRCh38]
Chr21:47754461 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6261G>A (p.Gln2087=) single nucleotide variant PCNT-related disorder [RCV003930088]|not provided [RCV002059137]|not specified [RCV000345737] Chr21:46416179 [GRCh38]
Chr21:47836093 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.5115+11A>G single nucleotide variant not provided [RCV003766314]|not specified [RCV000419097] Chr21:46402494 [GRCh38]
Chr21:47822408 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3058A>T (p.Lys1020Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV000502434] Chr21:46367032 [GRCh38]
Chr21:47786947 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3469G>C (p.Ala1157Pro) single nucleotide variant PCNT-related disorder [RCV003935299]|not provided [RCV002527278]|not specified [RCV000502346] Chr21:46388746 [GRCh38]
Chr21:47808661 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.8702C>T (p.Pro2901Leu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001143095]|PCNT-related disorder [RCV003396583]|not provided [RCV000997855] Chr21:46432166 [GRCh38]
Chr21:47852080 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:47681922-47784627)x3 copy number gain not provided [RCV000848723] Chr21:47681922..47784627 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.948G>C (p.Glu316Asp) single nucleotide variant not provided [RCV000997852] Chr21:46346970 [GRCh38]
Chr21:47766884 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3464+188G>A single nucleotide variant not provided [RCV001608910] Chr21:46386171 [GRCh38]
Chr21:47806086 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.6208G>A (p.Val2070Met) single nucleotide variant Microcephaly [RCV001252845] Chr21:46416126 [GRCh38]
Chr21:47836040 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6185C>T (p.Pro2062Leu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV001331525] Chr21:46416103 [GRCh38]
Chr21:47836017 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4447-2A>G single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005023124]|PCNT-related disorder [RCV003405627]|not provided [RCV001378410] Chr21:46398012 [GRCh38]
Chr21:47817926 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.1278G>A (p.Glu426=) single nucleotide variant PCNT-related disorder [RCV004741091]|not provided [RCV002077298]|not specified [RCV001819671] Chr21:46349754 [GRCh38]
Chr21:47769668 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1300T>C (p.Leu434=) single nucleotide variant not provided [RCV003772292]|not specified [RCV001817348] Chr21:46349776 [GRCh38]
Chr21:47769690 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9597C>T (p.Ala3199=) single nucleotide variant not provided [RCV002074281]|not specified [RCV001817354] Chr21:46441058 [GRCh38]
Chr21:47860971 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3228G>T (p.Gln1076His) single nucleotide variant Inborn genetic diseases [RCV004956128]|Microcephalic osteodysplastic primordial dwarfism type II [RCV002479758]|not provided [RCV002013483] Chr21:46381756 [GRCh38]
Chr21:47801671 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7071C>G (p.Gly2357=) single nucleotide variant not provided [RCV002202769] Chr21:46422016 [GRCh38]
Chr21:47841930 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.54+14G>A single nucleotide variant not provided [RCV002140288] Chr21:46324296 [GRCh38]
Chr21:47744210 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3083A>G (p.Gln1028Arg) single nucleotide variant not provided [RCV002681523] Chr21:46367057 [GRCh38]
Chr21:47786972 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3478G>C (p.Asp1160His) single nucleotide variant not provided [RCV003015022] Chr21:46388755 [GRCh38]
Chr21:47808670 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3010A>T (p.Lys1004Ter) single nucleotide variant not provided [RCV002971779] Chr21:46366984 [GRCh38]
Chr21:47786899 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.6341C>G (p.Ser2114Cys) single nucleotide variant Inborn genetic diseases [RCV004960880]|PCNT-related disorder [RCV004741368]|not provided [RCV002994217] Chr21:46416259 [GRCh38]
Chr21:47836173 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5479G>A (p.Ala1827Thr) single nucleotide variant Inborn genetic diseases [RCV004065180]|PCNT-related disorder [RCV003936484]|not provided [RCV002993569] Chr21:46411552 [GRCh38]
Chr21:47831466 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.720+17_720+18inv inversion not provided [RCV002705826] Chr21:46346225..46346226 [GRCh38]
Chr21:47766139..47766140 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5668G>C (p.Glu1890Gln) single nucleotide variant Inborn genetic diseases [RCV003250803]|PCNT-related disorder [RCV003420373]|not provided [RCV002637027] Chr21:46411741 [GRCh38]
Chr21:47831655 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3376C>T (p.Leu1126=) single nucleotide variant not provided [RCV002667724] Chr21:46385895 [GRCh38]
Chr21:47805810 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3615G>T (p.Ala1205=) single nucleotide variant not provided [RCV002623490] Chr21:46389206 [GRCh38]
Chr21:47809121 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6054C>T (p.Gly2018=) single nucleotide variant not provided [RCV003056745] Chr21:46412896 [GRCh38]
Chr21:47832810 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3841-9T>A single nucleotide variant not provided [RCV002667446] Chr21:46390661 [GRCh38]
Chr21:47810576 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3586G>A (p.Ala1196Thr) single nucleotide variant PCNT-related disorder [RCV003936558]|not provided [RCV003088787] Chr21:46388863 [GRCh38]
Chr21:47808778 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6856G>A (p.Ala2286Thr) single nucleotide variant not provided [RCV002646940] Chr21:46416774 [GRCh38]
Chr21:47836688 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4250A>G (p.Glu1417Gly) single nucleotide variant Inborn genetic diseases [RCV002653074]|not provided [RCV002653073] Chr21:46397298 [GRCh38]
Chr21:47817212 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7482C>G (p.Ile2494Met) single nucleotide variant PCNT-related disorder [RCV004741303]|not provided [RCV002584369] Chr21:46427783 [GRCh38]
Chr21:47847697 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.350G>C (p.Cys117Ser) single nucleotide variant Inborn genetic diseases [RCV003092991]|not provided [RCV003092992] Chr21:46334479 [GRCh38]
Chr21:47754393 [GRCh37]
Chr21:21q22.3		 benign|uncertain significance
NM_006031.6(PCNT):c.3928C>T (p.Gln1310Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003135604] Chr21:46390757 [GRCh38]
Chr21:47810672 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.6473G>A (p.Gly2158Asp) single nucleotide variant Inborn genetic diseases [RCV003372254] Chr21:46416391 [GRCh38]
Chr21:47836305 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3460G>A (p.Glu1154Lys) single nucleotide variant PCNT-related disorder [RCV003427888] Chr21:46385979 [GRCh38]
Chr21:47805894 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6781G>A (p.Gly2261Arg) single nucleotide variant PCNT-related disorder [RCV003422424] Chr21:46416699 [GRCh38]
Chr21:47836613 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2510G>A (p.Ser837Asn) single nucleotide variant PCNT-related disorder [RCV003416671] Chr21:46363835 [GRCh38]
Chr21:47783750 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6729C>T (p.Pro2243=) single nucleotide variant not provided [RCV003431607] Chr21:46416647 [GRCh38]
Chr21:47836561 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_006031.6(PCNT):c.7246C>G (p.Pro2416Ala) single nucleotide variant PCNT-related disorder [RCV003402701] Chr21:46425897 [GRCh38]
Chr21:47845811 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7495-3C>G single nucleotide variant PCNT-related disorder [RCV003392752] Chr21:46428392 [GRCh38]
Chr21:47848306 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.859C>T (p.Arg287Trp) single nucleotide variant PCNT-related disorder [RCV003392776] Chr21:46346881 [GRCh38]
Chr21:47766795 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4582G>T (p.Glu1528Ter) single nucleotide variant PCNT-related disorder [RCV003400338] Chr21:46398253 [GRCh38]
Chr21:47818167 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.1207C>T (p.Arg403Trp) single nucleotide variant PCNT-related disorder [RCV003392903] Chr21:46349186 [GRCh38]
Chr21:47769100 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7223C>T (p.Ala2408Val) single nucleotide variant Inborn genetic diseases [RCV005382641]|PCNT-related disorder [RCV003410622] Chr21:46425874 [GRCh38]
Chr21:47845788 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6445G>T (p.Ala2149Ser) single nucleotide variant PCNT-related disorder [RCV003410503] Chr21:46416363 [GRCh38]
Chr21:47836277 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4138G>A (p.Ala1380Thr) single nucleotide variant PCNT-related disorder [RCV003414554] Chr21:46391298 [GRCh38]
Chr21:47811213 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4584G>A (p.Glu1528=) single nucleotide variant PCNT-related disorder [RCV003414568] Chr21:46398255 [GRCh38]
Chr21:47818169 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8906G>A (p.Arg2969Gln) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003611646]|PCNT-related disorder [RCV003414583] Chr21:46436058 [GRCh38]
Chr21:47855971 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.7270C>T (p.Arg2424Trp) single nucleotide variant Inborn genetic diseases [RCV005382633]|PCNT-related disorder [RCV003416981] Chr21:46425921 [GRCh38]
Chr21:47845835 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6743C>T (p.Ser2248Leu) single nucleotide variant Inborn genetic diseases [RCV004961283]|PCNT-related disorder [RCV003417058] Chr21:46416661 [GRCh38]
Chr21:47836575 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6439A>G (p.Ile2147Val) single nucleotide variant PCNT-related disorder [RCV003417037] Chr21:46416357 [GRCh38]
Chr21:47836271 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4954G>A (p.Glu1652Lys) single nucleotide variant PCNT-related disorder [RCV003417083] Chr21:46401713 [GRCh38]
Chr21:47821627 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.54G>A (p.Lys18=) single nucleotide variant PCNT-related disorder [RCV003417093] Chr21:46324282 [GRCh38]
Chr21:47744196 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6269A>G (p.Asp2090Gly) single nucleotide variant PCNT-related disorder [RCV003399570] Chr21:46416187 [GRCh38]
Chr21:47836101 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.720+10C>T single nucleotide variant PCNT-related disorder [RCV003410599]|not provided [RCV003732579] Chr21:46346218 [GRCh38]
Chr21:47766132 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.9922C>T (p.His3308Tyr) single nucleotide variant PCNT-related disorder [RCV003410600] Chr21:46444776 [GRCh38]
Chr21:47864689 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7702G>T (p.Ala2568Ser) single nucleotide variant PCNT-related disorder [RCV003410706] Chr21:46430021 [GRCh38]
Chr21:47849935 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6125G>T (p.Arg2042Leu) single nucleotide variant PCNT-related disorder [RCV003410623] Chr21:46412967 [GRCh38]
Chr21:47832881 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2696G>A (p.Arg899His) single nucleotide variant PCNT-related disorder [RCV003417102] Chr21:46366670 [GRCh38]
Chr21:47786585 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5878C>T (p.Arg1960Trp) single nucleotide variant PCNT-related disorder [RCV003417140] Chr21:46411951 [GRCh38]
Chr21:47831865 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1430C>T (p.Ala477Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005030027]|PCNT-related disorder [RCV003410834] Chr21:46351514 [GRCh38]
Chr21:47771428 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2692G>A (p.Ala898Thr) single nucleotide variant PCNT-related disorder [RCV003399853] Chr21:46366666 [GRCh38]
Chr21:47786581 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7938C>G (p.Asn2646Lys) single nucleotide variant Inborn genetic diseases [RCV004961284]|PCNT-related disorder [RCV003427852] Chr21:46430531 [GRCh38]
Chr21:47850445 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8563C>T (p.Arg2855Ter) single nucleotide variant PCNT-related disorder [RCV003427857]|not provided [RCV003778282] Chr21:46432027 [GRCh38]
Chr21:47851941 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
NM_006031.6(PCNT):c.9326T>G (p.Leu3109Arg) single nucleotide variant PCNT-related disorder [RCV003402627]|not specified [RCV004801344] Chr21:46440135 [GRCh38]
Chr21:47860048 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6922-5A>G single nucleotide variant not provided [RCV003431608] Chr21:46418199 [GRCh38]
Chr21:47838113 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9470T>G (p.Leu3157Trp) single nucleotide variant Inborn genetic diseases [RCV005382635]|PCNT-related disorder [RCV003400249] Chr21:46440931 [GRCh38]
Chr21:47860844 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2527C>T (p.Pro843Ser) single nucleotide variant PCNT-related disorder [RCV003420756] Chr21:46363852 [GRCh38]
Chr21:47783767 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8593_8594del (p.Arg2865fs) microsatellite PCNT-related disorder [RCV003408302]|not provided [RCV003708792] Chr21:46432048..46432049 [GRCh38]
Chr21:47851962..47851963 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3902A>G (p.Glu1301Gly) single nucleotide variant PCNT-related disorder [RCV003402960] Chr21:46390731 [GRCh38]
Chr21:47810646 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1278G>T (p.Glu426Asp) single nucleotide variant PCNT-related disorder [RCV003414076] Chr21:46349754 [GRCh38]
Chr21:47769668 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7885G>A (p.Glu2629Lys) single nucleotide variant PCNT-related disorder [RCV003414081] Chr21:46430204 [GRCh38]
Chr21:47850118 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2929T>G (p.Ser977Ala) single nucleotide variant PCNT-related disorder [RCV003421006] Chr21:46366903 [GRCh38]
Chr21:47786818 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3359G>A (p.Arg1120His) single nucleotide variant PCNT-related disorder [RCV003393177] Chr21:46385878 [GRCh38]
Chr21:47805793 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9839+7G>T single nucleotide variant not provided [RCV003577021] Chr21:46443955 [GRCh38]
Chr21:47863868 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.972A>G (p.Glu324=) single nucleotide variant not provided [RCV003579592] Chr21:46346994 [GRCh38]
Chr21:47766908 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7025-3del deletion not provided [RCV003659888] Chr21:46421963 [GRCh38]
Chr21:47841877 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.2821C>T (p.Leu941=) single nucleotide variant not provided [RCV003661309] Chr21:46366795 [GRCh38]
Chr21:47786710 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7875G>A (p.Arg2625=) single nucleotide variant not provided [RCV003547094] Chr21:46430194 [GRCh38]
Chr21:47850108 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2253C>T (p.Asp751=) single nucleotide variant not provided [RCV003696081] Chr21:46363578 [GRCh38]
Chr21:47783493 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7913+14C>G single nucleotide variant not provided [RCV003830426] Chr21:46430246 [GRCh38]
Chr21:47850160 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5592A>G (p.Lys1864=) single nucleotide variant PCNT-related disorder [RCV004738860]|not provided [RCV003739917] Chr21:46411665 [GRCh38]
Chr21:47831579 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.942G>A (p.Lys314=) single nucleotide variant not provided [RCV003686915] Chr21:46346964 [GRCh38]
Chr21:47766878 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4585-10G>A single nucleotide variant PCNT-related disorder [RCV004738839]|not provided [RCV003714528] Chr21:46399580 [GRCh38]
Chr21:47819494 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8065-15G>T single nucleotide variant not provided [RCV003691845] Chr21:46431514 [GRCh38]
Chr21:47851428 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2456dup (p.Arg820fs) duplication not provided [RCV003577183] Chr21:46363778..46363779 [GRCh38]
Chr21:47783693..47783694 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3165+8G>A single nucleotide variant not provided [RCV003686951] Chr21:46367147 [GRCh38]
Chr21:47787062 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1104G>A (p.Lys368=) single nucleotide variant not provided [RCV003691937] Chr21:46349083 [GRCh38]
Chr21:47768997 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7320+9del deletion not provided [RCV003577004] Chr21:46425977 [GRCh38]
Chr21:47845891 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.4447-16C>T single nucleotide variant not provided [RCV003578153] Chr21:46397998 [GRCh38]
Chr21:47817912 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2274G>A (p.Glu758=) single nucleotide variant not provided [RCV003694499] Chr21:46363599 [GRCh38]
Chr21:47783514 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.219A>T (p.Thr73=) single nucleotide variant not provided [RCV003739936] Chr21:46326541 [GRCh38]
Chr21:47746455 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8061G>A (p.Leu2687=) single nucleotide variant not provided [RCV003849026] Chr21:46430654 [GRCh38]
Chr21:47850568 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2421C>T (p.Ile807=) single nucleotide variant not provided [RCV003696609] Chr21:46363746 [GRCh38]
Chr21:47783661 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.55-4G>A single nucleotide variant PCNT-related disorder [RCV004738893]|not provided [RCV003825130] Chr21:46326373 [GRCh38]
Chr21:47746287 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7495-18G>A single nucleotide variant not provided [RCV003825419] Chr21:46428377 [GRCh38]
Chr21:47848291 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2154+20C>T single nucleotide variant not provided [RCV003825380] Chr21:46357211 [GRCh38]
Chr21:47777126 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6151-18G>A single nucleotide variant not provided [RCV003547192] Chr21:46416051 [GRCh38]
Chr21:47835965 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8856C>T (p.Leu2952=) single nucleotide variant not provided [RCV003826955] Chr21:46436008 [GRCh38]
Chr21:47855921 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3841-19T>G single nucleotide variant not provided [RCV003693280] Chr21:46390651 [GRCh38]
Chr21:47810566 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2064C>G (p.Leu688=) single nucleotide variant not provided [RCV003695307] Chr21:46357101 [GRCh38]
Chr21:47777016 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3129C>T (p.Ala1043=) single nucleotide variant not provided [RCV003738899] Chr21:46367103 [GRCh38]
Chr21:47787018 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4872A>G (p.Arg1624=) single nucleotide variant not provided [RCV003693378] Chr21:46401631 [GRCh38]
Chr21:47821545 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8350A>G (p.Thr2784Ala) single nucleotide variant not provided [RCV003831171] Chr21:46431814 [GRCh38]
Chr21:47851728 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3375G>A (p.Val1125=) single nucleotide variant PCNT-related disorder [RCV004738815]|not provided [RCV003660160] Chr21:46385894 [GRCh38]
Chr21:47805809 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5004C>T (p.Asp1668=) single nucleotide variant not provided [RCV003713431] Chr21:46402372 [GRCh38]
Chr21:47822286 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8752-13C>A single nucleotide variant not provided [RCV003695424] Chr21:46435891 [GRCh38]
Chr21:47855804 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3165+7C>T single nucleotide variant PCNT-related disorder [RCV003893376]|not provided [RCV003739260] Chr21:46367146 [GRCh38]
Chr21:47787061 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6181C>T (p.Leu2061=) single nucleotide variant PCNT-related disorder [RCV003901224]|not provided [RCV003660317] Chr21:46416099 [GRCh38]
Chr21:47836013 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1761+19A>G single nucleotide variant not provided [RCV003662915] Chr21:46354087 [GRCh38]
Chr21:47774001 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9078G>A (p.Leu3026=) single nucleotide variant PCNT-related disorder [RCV004738883]|not provided [RCV003739105] Chr21:46437060 [GRCh38]
Chr21:47856973 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9099+12G>T single nucleotide variant not provided [RCV003691010] Chr21:46437093 [GRCh38]
Chr21:47857006 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.55-14A>G single nucleotide variant not provided [RCV003831399] Chr21:46326363 [GRCh38]
Chr21:47746277 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2859C>T (p.His953=) single nucleotide variant PCNT-related disorder [RCV004738944]|not provided [RCV003878295] Chr21:46366833 [GRCh38]
Chr21:47786748 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9043T>C (p.Leu3015=) single nucleotide variant PCNT-related disorder [RCV003949043]|not provided [RCV003829538] Chr21:46437025 [GRCh38]
Chr21:47856938 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6405G>A (p.Thr2135=) single nucleotide variant not provided [RCV003829637] Chr21:46416323 [GRCh38]
Chr21:47836237 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.825G>A (p.Thr275=) single nucleotide variant PCNT-related disorder [RCV004738884]|not provided [RCV003739405] Chr21:46346847 [GRCh38]
Chr21:47766761 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8996+2T>C single nucleotide variant not provided [RCV003572992] Chr21:46436150 [GRCh38]
Chr21:47856063 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.1208-18A>T single nucleotide variant not provided [RCV003716186] Chr21:46349666 [GRCh38]
Chr21:47769580 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5520C>T (p.Arg1840=) single nucleotide variant not provided [RCV003695681] Chr21:46411593 [GRCh38]
Chr21:47831507 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.720+11G>A single nucleotide variant not provided [RCV003827428] Chr21:46346219 [GRCh38]
Chr21:47766133 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5877A>T (p.Thr1959=) single nucleotide variant not provided [RCV003828619] Chr21:46411950 [GRCh38]
Chr21:47831864 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1937-7C>G single nucleotide variant not provided [RCV003572877] Chr21:46356967 [GRCh38]
Chr21:47776882 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6036T>C (p.Pro2012=) single nucleotide variant not provided [RCV003577516] Chr21:46412878 [GRCh38]
Chr21:47832792 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3747G>T (p.Val1249=) single nucleotide variant not provided [RCV003692627] Chr21:46389338 [GRCh38]
Chr21:47809253 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7179+11C>T single nucleotide variant not provided [RCV003696031] Chr21:46422135 [GRCh38]
Chr21:47842049 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1456+11G>A single nucleotide variant not provided [RCV003696038] Chr21:46351551 [GRCh38]
Chr21:47771465 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9041C>T (p.Ser3014Phe) single nucleotide variant not provided [RCV003713810] Chr21:46437023 [GRCh38]
Chr21:47856936 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4959C>T (p.Ser1653=) single nucleotide variant not provided [RCV003660701] Chr21:46401718 [GRCh38]
Chr21:47821632 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3612G>T (p.Pro1204=) single nucleotide variant not provided [RCV003879779] Chr21:46389203 [GRCh38]
Chr21:47809118 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4563+14G>A single nucleotide variant not provided [RCV003694862] Chr21:46398144 [GRCh38]
Chr21:47818058 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8451T>C (p.His2817=) single nucleotide variant not provided [RCV003577643] Chr21:46431915 [GRCh38]
Chr21:47851829 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4339C>T (p.Leu1447=) single nucleotide variant not provided [RCV003695824] Chr21:46397387 [GRCh38]
Chr21:47817301 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.639+16T>C single nucleotide variant not provided [RCV003831120] Chr21:46334784 [GRCh38]
Chr21:47754698 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4564-19A>G single nucleotide variant not provided [RCV003831492] Chr21:46398216 [GRCh38]
Chr21:47818130 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9839+14C>T single nucleotide variant not provided [RCV003579564] Chr21:46443962 [GRCh38]
Chr21:47863875 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9489C>T (p.Phe3163=) single nucleotide variant PCNT-related disorder [RCV003966743]|not provided [RCV003880896] Chr21:46440950 [GRCh38]
Chr21:47860863 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3360C>T (p.Arg1120=) single nucleotide variant not provided [RCV003716518] Chr21:46385879 [GRCh38]
Chr21:47805794 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8700C>T (p.Ser2900=) single nucleotide variant not provided [RCV003576515] Chr21:46432164 [GRCh38]
Chr21:47852078 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4281G>A (p.Lys1427=) single nucleotide variant not provided [RCV003579015] Chr21:46397329 [GRCh38]
Chr21:47817243 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6345T>C (p.Cys2115=) single nucleotide variant not provided [RCV003543899] Chr21:46416263 [GRCh38]
Chr21:47836177 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9390C>T (p.Val3130=) single nucleotide variant not provided [RCV003715476] Chr21:46440199 [GRCh38]
Chr21:47860112 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9274-2A>G single nucleotide variant not provided [RCV003716606] Chr21:46440081 [GRCh38]
Chr21:47859994 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.9064C>T (p.Leu3022=) single nucleotide variant not provided [RCV003576505] Chr21:46437046 [GRCh38]
Chr21:47856959 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5967T>C (p.Ala1989=) single nucleotide variant not provided [RCV003579216] Chr21:46412040 [GRCh38]
Chr21:47831954 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3837_3841-542del deletion not provided [RCV003686572] Chr21:46389354..46390054 [GRCh38]
Chr21:47809269..47809969 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.6150+21_6150+80del deletion not provided [RCV003662429] Chr21:46413004..46413063 [GRCh38]
Chr21:47832918..47832977 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9273+15_9273+16dup duplication not provided [RCV003695013] Chr21:46438351..46438352 [GRCh38]
Chr21:47858264..47858265 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3018T>C (p.Ser1006=) single nucleotide variant not provided [RCV003849115] Chr21:46366992 [GRCh38]
Chr21:47786907 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3621G>A (p.Glu1207=) single nucleotide variant not provided [RCV003661135] Chr21:46389212 [GRCh38]
Chr21:47809127 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6038dup (p.Cys2014fs) duplication not provided [RCV003690589] Chr21:46412879..46412880 [GRCh38]
Chr21:47832793..47832794 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.1875C>T (p.Cys625=) single nucleotide variant PCNT-related disorder [RCV003966703]|not provided [RCV003830298] Chr21:46355565 [GRCh38]
Chr21:47775480 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4277_4281del (p.Glu1426fs) deletion not provided [RCV003848930] Chr21:46397324..46397328 [GRCh38]
Chr21:47817238..47817242 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3312+20C>T single nucleotide variant not provided [RCV003831397] Chr21:46381860 [GRCh38]
Chr21:47801775 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5559C>G (p.Ala1853=) single nucleotide variant not provided [RCV003712938] Chr21:46411632 [GRCh38]
Chr21:47831546 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1171T>C (p.Leu391=) single nucleotide variant not provided [RCV003545478] Chr21:46349150 [GRCh38]
Chr21:47769064 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9757C>A (p.Arg3253=) single nucleotide variant not provided [RCV003694133] Chr21:46443866 [GRCh38]
Chr21:47863779 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7663C>T (p.Gln2555Ter) single nucleotide variant not provided [RCV003829699] Chr21:46428563 [GRCh38]
Chr21:47848477 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.54+13G>A single nucleotide variant not provided [RCV003830189] Chr21:46324295 [GRCh38]
Chr21:47744209 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5480del (p.Ala1827fs) deletion not provided [RCV003693656] Chr21:46411553 [GRCh38]
Chr21:47831467 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.2856A>G (p.Lys952=) single nucleotide variant not provided [RCV003659777] Chr21:46366830 [GRCh38]
Chr21:47786745 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5895C>T (p.His1965=) single nucleotide variant not provided [RCV003572818] Chr21:46411968 [GRCh38]
Chr21:47831882 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5619A>G (p.Arg1873=) single nucleotide variant not provided [RCV003660461] Chr21:46411692 [GRCh38]
Chr21:47831606 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.63C>T (p.His21=) single nucleotide variant not provided [RCV003689573] Chr21:46326385 [GRCh38]
Chr21:47746299 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2104T>C (p.Leu702=) single nucleotide variant not provided [RCV003666213] Chr21:46357141 [GRCh38]
Chr21:47777056 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8653C>T (p.Gln2885Ter) single nucleotide variant not provided [RCV003694271] Chr21:46432117 [GRCh38]
Chr21:47852031 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.7179+16del deletion not provided [RCV003688144] Chr21:46422137 [GRCh38]
Chr21:47842051 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.8761G>T (p.Glu2921Ter) single nucleotide variant not provided [RCV003545563] Chr21:46435913 [GRCh38]
Chr21:47855826 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.2496C>T (p.Asp832=) single nucleotide variant PCNT-related disorder [RCV003980985]|not provided [RCV003546143] Chr21:46363821 [GRCh38]
Chr21:47783736 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4032A>T (p.Thr1344=) single nucleotide variant not provided [RCV003577102] Chr21:46391192 [GRCh38]
Chr21:47811107 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6943dup (p.Ile2315fs) duplication not provided [RCV003572195] Chr21:46418224..46418225 [GRCh38]
Chr21:47838138..47838139 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.6810G>C (p.Gln2270His) single nucleotide variant not provided [RCV003692533] Chr21:46416728 [GRCh38]
Chr21:47836642 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3066A>G (p.Lys1022=) single nucleotide variant not provided [RCV003828181] Chr21:46367040 [GRCh38]
Chr21:47786955 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8064+8G>A single nucleotide variant not provided [RCV003694871] Chr21:46430665 [GRCh38]
Chr21:47850579 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.721-17C>A single nucleotide variant not provided [RCV003573043] Chr21:46346726 [GRCh38]
Chr21:47766640 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7173C>T (p.His2391=) single nucleotide variant PCNT-related disorder [RCV003929377]|not provided [RCV003877696] Chr21:46422118 [GRCh38]
Chr21:47842032 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7320+10G>A single nucleotide variant PCNT-related disorder [RCV004738882]|not provided [RCV003739096] Chr21:46425981 [GRCh38]
Chr21:47845895 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2340C>G (p.Ser780=) single nucleotide variant not provided [RCV003829467] Chr21:46363665 [GRCh38]
Chr21:47783580 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4004-15G>C single nucleotide variant not provided [RCV003661388] Chr21:46391149 [GRCh38]
Chr21:47811064 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5886C>T (p.Pro1962=) single nucleotide variant PCNT-related disorder [RCV004738899]|not provided [RCV003825923] Chr21:46411959 [GRCh38]
Chr21:47831873 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5994+15C>T single nucleotide variant not provided [RCV003829981] Chr21:46412082 [GRCh38]
Chr21:47831996 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4020C>T (p.Phe1340=) single nucleotide variant not provided [RCV003695542] Chr21:46391180 [GRCh38]
Chr21:47811095 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9100-20T>C single nucleotide variant not provided [RCV003577374] Chr21:46438144 [GRCh38]
Chr21:47858057 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8598G>A (p.Glu2866=) single nucleotide variant not provided [RCV003829556] Chr21:46432062 [GRCh38]
Chr21:47851976 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4554C>G (p.Arg1518=) single nucleotide variant not provided [RCV003546400] Chr21:46398121 [GRCh38]
Chr21:47818035 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5331C>T (p.Cys1777=) single nucleotide variant not provided [RCV003880348] Chr21:46411404 [GRCh38]
Chr21:47831318 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.582G>A (p.Gln194=) single nucleotide variant not provided [RCV003829384] Chr21:46334711 [GRCh38]
Chr21:47754625 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1719A>G (p.Gly573=) single nucleotide variant not provided [RCV003686898] Chr21:46354026 [GRCh38]
Chr21:47773940 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.55-7T>G single nucleotide variant not provided [RCV003694519] Chr21:46326370 [GRCh38]
Chr21:47746284 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2609+2T>G single nucleotide variant not provided [RCV003694535] Chr21:46363936 [GRCh38]
Chr21:47783851 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.9099+1G>A single nucleotide variant not provided [RCV003545046] Chr21:46437082 [GRCh38]
Chr21:47856995 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.3330A>G (p.Leu1110=) single nucleotide variant not provided [RCV003687742] Chr21:46385849 [GRCh38]
Chr21:47805764 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1698A>G (p.Leu566=) single nucleotide variant PCNT-related disorder [RCV004738841]|not provided [RCV003715341] Chr21:46354005 [GRCh38]
Chr21:47773919 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7380C>A (p.Ala2460=) single nucleotide variant not provided [RCV003577267] Chr21:46427681 [GRCh38]
Chr21:47847595 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4584+14_4584+16del deletion not provided [RCV003695263] Chr21:46398268..46398270 [GRCh38]
Chr21:47818182..47818184 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3768C>T (p.Ile1256=) single nucleotide variant not provided [RCV003714025] Chr21:46389359 [GRCh38]
Chr21:47809274 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.55-19T>A single nucleotide variant not provided [RCV003573973] Chr21:46326358 [GRCh38]
Chr21:47746272 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9342C>G (p.Pro3114=) single nucleotide variant not provided [RCV003716007] Chr21:46440151 [GRCh38]
Chr21:47860064 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7488T>G (p.Arg2496=) single nucleotide variant not provided [RCV003716502] Chr21:46427789 [GRCh38]
Chr21:47847703 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3558C>G (p.Arg1186=) single nucleotide variant not provided [RCV003693433] Chr21:46388835 [GRCh38]
Chr21:47808750 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2619G>A (p.Glu873=) single nucleotide variant not provided [RCV003828786] Chr21:46366593 [GRCh38]
Chr21:47786508 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8196G>A (p.Leu2732=) single nucleotide variant not provided [RCV003716033] Chr21:46431660 [GRCh38]
Chr21:47851574 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8065-9G>C single nucleotide variant not provided [RCV003716039] Chr21:46431520 [GRCh38]
Chr21:47851434 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4447-4C>T single nucleotide variant not provided [RCV003712710] Chr21:46398010 [GRCh38]
Chr21:47817924 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9145C>T (p.Leu3049=) single nucleotide variant not provided [RCV003715461] Chr21:46438209 [GRCh38]
Chr21:47858122 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8484dup (p.His2829fs) duplication not provided [RCV003547322] Chr21:46431947..46431948 [GRCh38]
Chr21:47851861..47851862 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.8591_8594del (p.Glu2864fs) microsatellite not provided [RCV003547800] Chr21:46432048..46432051 [GRCh38]
Chr21:47851962..47851965 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.1679+17del deletion not provided [RCV003830146] Chr21:46353342 [GRCh38]
Chr21:47773256 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7494+11G>C single nucleotide variant not provided [RCV003545998] Chr21:46427806 [GRCh38]
Chr21:47847720 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4044G>A (p.Lys1348=) single nucleotide variant not provided [RCV003824456] Chr21:46391204 [GRCh38]
Chr21:47811119 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4374G>A (p.Glu1458=) single nucleotide variant not provided [RCV003879941] Chr21:46397422 [GRCh38]
Chr21:47817336 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6639G>A (p.Lys2213=) single nucleotide variant not provided [RCV003547919] Chr21:46416557 [GRCh38]
Chr21:47836471 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7690+16T>C single nucleotide variant not provided [RCV003694068] Chr21:46428606 [GRCh38]
Chr21:47848520 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1344+15C>T single nucleotide variant not provided [RCV003694693] Chr21:46349835 [GRCh38]
Chr21:47769749 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1345-20G>C single nucleotide variant not provided [RCV003714884] Chr21:46351409 [GRCh38]
Chr21:47771323 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7653G>T (p.Ala2551=) single nucleotide variant not provided [RCV003574150] Chr21:46428553 [GRCh38]
Chr21:47848467 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3939G>A (p.Leu1313=) single nucleotide variant not provided [RCV003690477] Chr21:46390768 [GRCh38]
Chr21:47810683 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4563+13A>G single nucleotide variant not provided [RCV003694084] Chr21:46398143 [GRCh38]
Chr21:47818057 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1457-7G>T single nucleotide variant not provided [RCV003829733] Chr21:46353097 [GRCh38]
Chr21:47773011 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2529G>A (p.Pro843=) single nucleotide variant PCNT-related disorder [RCV003909201]|not provided [RCV003875963] Chr21:46363854 [GRCh38]
Chr21:47783769 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2544C>T (p.Asp848=) single nucleotide variant PCNT-related disorder [RCV003981178]|not provided [RCV003878806] Chr21:46363869 [GRCh38]
Chr21:47783784 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.45G>C (p.Gly15=) single nucleotide variant not provided [RCV003690003] Chr21:46324273 [GRCh38]
Chr21:47744187 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2484C>T (p.Leu828=) single nucleotide variant not provided [RCV003575575] Chr21:46363809 [GRCh38]
Chr21:47783724 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7635G>T (p.Ala2545=) single nucleotide variant not provided [RCV003695178] Chr21:46428535 [GRCh38]
Chr21:47848449 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9750C>A (p.Pro3250=) single nucleotide variant not provided [RCV003695396] Chr21:46443859 [GRCh38]
Chr21:47863772 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9264C>T (p.Cys3088=) single nucleotide variant not provided [RCV003712838] Chr21:46438328 [GRCh38]
Chr21:47858241 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2155-6C>G single nucleotide variant not provided [RCV003686671] Chr21:46363474 [GRCh38]
Chr21:47783389 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7464C>T (p.Leu2488=) single nucleotide variant PCNT-related disorder [RCV004738904]|not provided [RCV003824573] Chr21:46427765 [GRCh38]
Chr21:47847679 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5451G>A (p.Leu1817=) single nucleotide variant not provided [RCV003828399] Chr21:46411524 [GRCh38]
Chr21:47831438 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7272del (p.Lys2425fs) deletion not provided [RCV003572241] Chr21:46425922 [GRCh38]
Chr21:47845836 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.54+8_54+10del deletion not provided [RCV003689888] Chr21:46324289..46324291 [GRCh38]
Chr21:47744203..47744205 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8082G>A (p.Leu2694=) single nucleotide variant not provided [RCV003690420] Chr21:46431546 [GRCh38]
Chr21:47851460 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7688del (p.Gln2563fs) deletion not provided [RCV003576596] Chr21:46428588 [GRCh38]
Chr21:47848502 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3313-5G>C single nucleotide variant PCNT-related disorder [RCV003981145]|not provided [RCV003829294] Chr21:46385827 [GRCh38]
Chr21:47805742 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3840+9C>T single nucleotide variant not provided [RCV003695107] Chr21:46389440 [GRCh38]
Chr21:47809355 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4584+7_4584+9del microsatellite not provided [RCV003826954] Chr21:46398258..46398260 [GRCh38]
Chr21:47818172..47818174 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4963-9T>G single nucleotide variant PCNT-related disorder [RCV004738950]|not provided [RCV003877090] Chr21:46402322 [GRCh38]
Chr21:47822236 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4216+10G>A single nucleotide variant PCNT-related disorder [RCV003939217]|not provided [RCV003828902] Chr21:46391386 [GRCh38]
Chr21:47811301 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2340C>T (p.Ser780=) single nucleotide variant not provided [RCV003831390] Chr21:46363665 [GRCh38]
Chr21:47783580 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9189C>T (p.Thr3063=) single nucleotide variant PCNT-related disorder [RCV004738828]|not provided [RCV003692319] Chr21:46438253 [GRCh38]
Chr21:47858166 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7923G>A (p.Leu2641=) single nucleotide variant not provided [RCV003576289] Chr21:46430516 [GRCh38]
Chr21:47850430 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9111A>G (p.Ala3037=) single nucleotide variant PCNT-related disorder [RCV003929258]|not provided [RCV003573209] Chr21:46438175 [GRCh38]
Chr21:47858088 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4221C>T (p.Leu1407=) single nucleotide variant not provided [RCV003688543] Chr21:46397269 [GRCh38]
Chr21:47817183 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7407_7408insTC (p.Val2470fs) insertion not provided [RCV003716075] Chr21:46427708..46427709 [GRCh38]
Chr21:47847622..47847623 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.4564-16T>C single nucleotide variant not provided [RCV003575501] Chr21:46398219 [GRCh38]
Chr21:47818133 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2609+13T>A single nucleotide variant not provided [RCV003663490] Chr21:46363947 [GRCh38]
Chr21:47783862 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5310T>C (p.Ser1770=) single nucleotide variant not provided [RCV003695160] Chr21:46411383 [GRCh38]
Chr21:47831297 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1457-13C>T single nucleotide variant not provided [RCV003825401] Chr21:46353091 [GRCh38]
Chr21:47773005 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6198C>T (p.Leu2066=) single nucleotide variant PCNT-related disorder [RCV004741509]|not provided [RCV003544477] Chr21:46416116 [GRCh38]
Chr21:47836030 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4377C>G (p.Ala1459=) single nucleotide variant PCNT-related disorder [RCV004738814]|not provided [RCV003660093] Chr21:46397425 [GRCh38]
Chr21:47817339 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4743C>G (p.Leu1581=) single nucleotide variant not provided [RCV003687095] Chr21:46399748 [GRCh38]
Chr21:47819662 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9700+8T>A single nucleotide variant not provided [RCV003661732] Chr21:46442581 [GRCh38]
Chr21:47862494 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2208A>G (p.Gln736=) single nucleotide variant not provided [RCV003577556] Chr21:46363533 [GRCh38]
Chr21:47783448 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2968C>T (p.Leu990=) single nucleotide variant not provided [RCV003830225] Chr21:46366942 [GRCh38]
Chr21:47786857 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1679+1G>A single nucleotide variant not provided [RCV003687082] Chr21:46353327 [GRCh38]
Chr21:47773241 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.5568C>T (p.Ile1856=) single nucleotide variant not provided [RCV003713426] Chr21:46411641 [GRCh38]
Chr21:47831555 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4564-18T>C single nucleotide variant not provided [RCV003715588] Chr21:46398217 [GRCh38]
Chr21:47818131 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1368T>C (p.Tyr456=) single nucleotide variant not provided [RCV003829839] Chr21:46351452 [GRCh38]
Chr21:47771366 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8229C>T (p.Leu2743=) single nucleotide variant not provided [RCV003577580] Chr21:46431693 [GRCh38]
Chr21:47851607 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4618T>C (p.Leu1540=) single nucleotide variant not provided [RCV003577588] Chr21:46399623 [GRCh38]
Chr21:47819537 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2331G>A (p.Lys777=) single nucleotide variant not provided [RCV003739058] Chr21:46363656 [GRCh38]
Chr21:47783571 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3404G>A (p.Arg1135Gln) single nucleotide variant PCNT-related disorder [RCV003948979]|not provided [RCV003739709] Chr21:46385923 [GRCh38]
Chr21:47805838 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4425C>T (p.Arg1475=) single nucleotide variant not provided [RCV003827487] Chr21:46397473 [GRCh38]
Chr21:47817387 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5928C>T (p.Ala1976=) single nucleotide variant not provided [RCV003827501] Chr21:46412001 [GRCh38]
Chr21:47831915 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.423A>G (p.Glu141=) single nucleotide variant not provided [RCV003544133] Chr21:46334552 [GRCh38]
Chr21:47754466 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8752del (p.Arg2918fs) deletion not provided [RCV003689496] Chr21:46435904 [GRCh38]
Chr21:47855817 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.4734G>C (p.Val1578=) single nucleotide variant not provided [RCV003663575] Chr21:46399739 [GRCh38]
Chr21:47819653 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9087C>T (p.Pro3029=) single nucleotide variant not provided [RCV003577189] Chr21:46437069 [GRCh38]
Chr21:47856982 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5772G>T (p.Ala1924=) single nucleotide variant not provided [RCV003659756] Chr21:46411845 [GRCh38]
Chr21:47831759 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3507del (p.Phe1169fs) deletion not provided [RCV003544166] Chr21:46388782 [GRCh38]
Chr21:47808697 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.5103C>T (p.Asn1701=) single nucleotide variant not provided [RCV003663593] Chr21:46402471 [GRCh38]
Chr21:47822385 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9060G>A (p.Glu3020=) single nucleotide variant not provided [RCV003578388] Chr21:46437042 [GRCh38]
Chr21:47856955 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.234C>T (p.Thr78=) single nucleotide variant not provided [RCV003695925] Chr21:46326556 [GRCh38]
Chr21:47746470 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8178C>T (p.His2726=) single nucleotide variant not provided [RCV003572293] Chr21:46431642 [GRCh38]
Chr21:47851556 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9273+19C>T single nucleotide variant not provided [RCV003659882] Chr21:46438356 [GRCh38]
Chr21:47858269 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4257G>A (p.Ser1419=) single nucleotide variant not provided [RCV003877492] Chr21:46397305 [GRCh38]
Chr21:47817219 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1614A>T (p.Leu538=) single nucleotide variant not provided [RCV003693545] Chr21:46353261 [GRCh38]
Chr21:47773175 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.51G>C (p.Thr17=) single nucleotide variant PCNT-related disorder [RCV003901176]|not provided [RCV003578051] Chr21:46324279 [GRCh38]
Chr21:47744193 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8680_8689del (p.Ser2894fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV004577930]|not provided [RCV003830995] Chr21:46432139..46432148 [GRCh38]
Chr21:47852053..47852062 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_006031.6(PCNT):c.4217-6C>T single nucleotide variant not provided [RCV003578703] Chr21:46397259 [GRCh38]
Chr21:47817173 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2445G>T (p.Thr815=) single nucleotide variant not provided [RCV003691304] Chr21:46363770 [GRCh38]
Chr21:47783685 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3919del (p.Arg1307fs) deletion not provided [RCV003660324] Chr21:46390748 [GRCh38]
Chr21:47810663 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.6720del (p.Ser2241fs) deletion not provided [RCV003546981] Chr21:46416636 [GRCh38]
Chr21:47836550 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.2871C>T (p.Leu957=) single nucleotide variant not provided [RCV003829418] Chr21:46366845 [GRCh38]
Chr21:47786760 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.777G>A (p.Thr259=) single nucleotide variant PCNT-related disorder [RCV004738903]|not provided [RCV003829965] Chr21:46346799 [GRCh38]
Chr21:47766713 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1480C>T (p.Arg494Cys) single nucleotide variant PCNT-related disorder [RCV004738912]|not provided [RCV003831170] Chr21:46353127 [GRCh38]
Chr21:47773041 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1980G>A (p.Leu660=) single nucleotide variant PCNT-related disorder [RCV004738901]|not provided [RCV003826286] Chr21:46357017 [GRCh38]
Chr21:47776932 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3830_3831dup (p.Ser1278fs) duplication not provided [RCV003688137] Chr21:46389420..46389421 [GRCh38]
Chr21:47809335..47809336 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.6494A>G (p.Asn2165Ser) single nucleotide variant not provided [RCV003546285] Chr21:46416412 [GRCh38]
Chr21:47836326 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3340C>T (p.His1114Tyr) single nucleotide variant Inborn genetic diseases [RCV005387276]|PCNT-related disorder [RCV004738913]|not provided [RCV003831261] Chr21:46385859 [GRCh38]
Chr21:47805774 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3765C>T (p.Pro1255=) single nucleotide variant not provided [RCV003827861] Chr21:46389356 [GRCh38]
Chr21:47809271 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6150+15_6150+135del deletion not provided [RCV003687121] Chr21:46413003..46413123 [GRCh38]
Chr21:47832917..47833037 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7691-19G>A single nucleotide variant not provided [RCV003544544] Chr21:46429991 [GRCh38]
Chr21:47849905 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5292C>T (p.Ser1764=) single nucleotide variant PCNT-related disorder [RCV004723435]|not provided [RCV003713437] Chr21:46411365 [GRCh38]
Chr21:47831279 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9274-20C>T single nucleotide variant not provided [RCV003713737] Chr21:46440063 [GRCh38]
Chr21:47859976 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6267G>A (p.Val2089=) single nucleotide variant not provided [RCV003547074] Chr21:46416185 [GRCh38]
Chr21:47836099 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.933A>C (p.Ala311=) single nucleotide variant not provided [RCV003547180] Chr21:46346955 [GRCh38]
Chr21:47766869 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5547C>T (p.Val1849=) single nucleotide variant not provided [RCV003829151] Chr21:46411620 [GRCh38]
Chr21:47831534 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4518C>T (p.Leu1506=) single nucleotide variant not provided [RCV003695713] Chr21:46398085 [GRCh38]
Chr21:47817999 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.721-7G>C single nucleotide variant PCNT-related disorder [RCV003949037]|not provided [RCV003828020] Chr21:46346736 [GRCh38]
Chr21:47766650 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5110T>C (p.Leu1704=) single nucleotide variant not provided [RCV003693075] Chr21:46402478 [GRCh38]
Chr21:47822392 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2736C>A (p.Leu912=) single nucleotide variant not provided [RCV003693132] Chr21:46366710 [GRCh38]
Chr21:47786625 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8949C>T (p.Leu2983=) single nucleotide variant not provided [RCV003572018] Chr21:46436101 [GRCh38]
Chr21:47856014 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4963-8A>G single nucleotide variant not provided [RCV003687475] Chr21:46402323 [GRCh38]
Chr21:47822237 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1208-20C>T single nucleotide variant not provided [RCV003695740] Chr21:46349664 [GRCh38]
Chr21:47769578 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2154+8G>C single nucleotide variant not provided [RCV003660599] Chr21:46357199 [GRCh38]
Chr21:47777114 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1731C>T (p.His577=) single nucleotide variant not provided [RCV003545012] Chr21:46354038 [GRCh38]
Chr21:47773952 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4004-8C>G single nucleotide variant not provided [RCV003688298] Chr21:46391156 [GRCh38]
Chr21:47811071 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.252G>C (p.Gly84=) single nucleotide variant not provided [RCV003694539] Chr21:46326574 [GRCh38]
Chr21:47746488 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7062G>T (p.Gly2354=) single nucleotide variant not provided [RCV003578188] Chr21:46422007 [GRCh38]
Chr21:47841921 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3744T>C (p.Ser1248=) single nucleotide variant not provided [RCV003695743] Chr21:46389335 [GRCh38]
Chr21:47809250 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.597A>T (p.Thr199=) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003611660]|not provided [RCV003559340] Chr21:46334726 [GRCh38]
Chr21:47754640 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6151-4G>T single nucleotide variant not provided [RCV003547791] Chr21:46416065 [GRCh38]
Chr21:47835979 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7299G>A (p.Ser2433=) single nucleotide variant PCNT-related disorder [RCV004738811]|not provided [RCV003663290] Chr21:46425950 [GRCh38]
Chr21:47845864 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9701-10T>C single nucleotide variant not provided [RCV003663295] Chr21:46443800 [GRCh38]
Chr21:47863713 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1208-4C>G single nucleotide variant not provided [RCV003578760] Chr21:46349680 [GRCh38]
Chr21:47769594 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4216+8G>T single nucleotide variant not provided [RCV003693332] Chr21:46391384 [GRCh38]
Chr21:47811299 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2895G>A (p.Leu965=) single nucleotide variant not provided [RCV003713934] Chr21:46366869 [GRCh38]
Chr21:47786784 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1467del (p.Glu489fs) deletion not provided [RCV003688349] Chr21:46353114 [GRCh38]
Chr21:47773028 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3054A>G (p.Lys1018=) single nucleotide variant not provided [RCV003547317] Chr21:46367028 [GRCh38]
Chr21:47786943 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.639+8T>C single nucleotide variant not provided [RCV003693887] Chr21:46334776 [GRCh38]
Chr21:47754690 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.268-13C>T single nucleotide variant not provided [RCV003695022] Chr21:46334384 [GRCh38]
Chr21:47754298 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.939_940del (p.Lys314fs) microsatellite not provided [RCV003578235] Chr21:46346959..46346960 [GRCh38]
Chr21:47766873..47766874 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.994T>C (p.Leu332=) single nucleotide variant not provided [RCV003830491] Chr21:46347474 [GRCh38]
Chr21:47767388 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4963-16_4963-14del deletion not provided [RCV003830496] Chr21:46402314..46402316 [GRCh38]
Chr21:47822228..47822230 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8328G>A (p.Gln2776=) single nucleotide variant not provided [RCV003695742] Chr21:46431792 [GRCh38]
Chr21:47851706 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8122C>T (p.Leu2708=) single nucleotide variant not provided [RCV003693398] Chr21:46431586 [GRCh38]
Chr21:47851500 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3000A>G (p.Gln1000=) single nucleotide variant not provided [RCV003545812] Chr21:46366974 [GRCh38]
Chr21:47786889 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2155-20T>G single nucleotide variant not provided [RCV003689828] Chr21:46363460 [GRCh38]
Chr21:47783375 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3607+15A>T single nucleotide variant not provided [RCV003879740] Chr21:46388899 [GRCh38]
Chr21:47808814 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2610-11T>G single nucleotide variant not provided [RCV003827573] Chr21:46366573 [GRCh38]
Chr21:47786488 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4217-7T>C single nucleotide variant not provided [RCV003576363] Chr21:46397258 [GRCh38]
Chr21:47817172 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.642G>A (p.Glu214=) single nucleotide variant not provided [RCV003713380] Chr21:46346130 [GRCh38]
Chr21:47766044 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8065-17A>G single nucleotide variant not provided [RCV003572337] Chr21:46431512 [GRCh38]
Chr21:47851426 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7317G>T (p.Thr2439=) single nucleotide variant not provided [RCV003661320] Chr21:46425968 [GRCh38]
Chr21:47845882 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1998G>A (p.Arg666=) single nucleotide variant not provided [RCV003687032] Chr21:46357035 [GRCh38]
Chr21:47776950 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7221G>A (p.Leu2407=) single nucleotide variant not provided [RCV003692229] Chr21:46425872 [GRCh38]
Chr21:47845786 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2610-18T>C single nucleotide variant not provided [RCV003693087] Chr21:46366566 [GRCh38]
Chr21:47786481 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1329A>G (p.Lys443=) single nucleotide variant not provided [RCV003572420] Chr21:46349805 [GRCh38]
Chr21:47769719 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9701-2A>T single nucleotide variant PCNT-related disorder [RCV004738952]|not provided [RCV003877585] Chr21:46443808 [GRCh38]
Chr21:47863721 [GRCh37]
Chr21:21q22.3		 likely pathogenic|uncertain significance
NM_006031.6(PCNT):c.4440C>T (p.Phe1480=) single nucleotide variant not provided [RCV003715849] Chr21:46397488 [GRCh38]
Chr21:47817402 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7564C>T (p.Gln2522Ter) single nucleotide variant not provided [RCV003687128] Chr21:46428464 [GRCh38]
Chr21:47848378 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.132G>C (p.Ser44=) single nucleotide variant not provided [RCV003713330] Chr21:46326454 [GRCh38]
Chr21:47746368 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.45G>A (p.Gly15=) single nucleotide variant not provided [RCV003713411] Chr21:46324273 [GRCh38]
Chr21:47744187 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8146_8149dup (p.Asn2717fs) duplication not provided [RCV003574043] Chr21:46431609..46431610 [GRCh38]
Chr21:47851523..47851524 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.9870_9873del (p.Glu3290fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV005038540]|PCNT-related disorder [RCV004738895]|not provided [RCV003825358] Chr21:46444721..46444724 [GRCh38]
Chr21:47864634..47864637 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|uncertain significance
NM_006031.6(PCNT):c.1033-19T>A single nucleotide variant not provided [RCV003881030] Chr21:46348993 [GRCh38]
Chr21:47768907 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6678C>T (p.Ser2226=) single nucleotide variant not provided [RCV003691698] Chr21:46416596 [GRCh38]
Chr21:47836510 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9270A>C (p.Pro3090=) single nucleotide variant not provided [RCV003574430] Chr21:46438334 [GRCh38]
Chr21:47858247 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2352C>T (p.Thr784=) single nucleotide variant PCNT-related disorder [RCV004738830]|not provided [RCV003690740] Chr21:46363677 [GRCh38]
Chr21:47783592 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.873G>A (p.Glu291=) single nucleotide variant not provided [RCV003825637] Chr21:46346895 [GRCh38]
Chr21:47766809 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1169A>G (p.Glu390Gly) single nucleotide variant not provided [RCV003689149] Chr21:46349148 [GRCh38]
Chr21:47769062 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3608-10C>T single nucleotide variant not provided [RCV003574138] Chr21:46389189 [GRCh38]
Chr21:47809104 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7362G>T (p.Leu2454=) single nucleotide variant not provided [RCV003575569] Chr21:46427663 [GRCh38]
Chr21:47847577 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6981A>T (p.Ser2327=) single nucleotide variant not provided [RCV003690366] Chr21:46418263 [GRCh38]
Chr21:47838177 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8949C>G (p.Leu2983=) single nucleotide variant not provided [RCV003689194] Chr21:46436101 [GRCh38]
Chr21:47856014 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6741C>T (p.His2247=) single nucleotide variant not provided [RCV003689840] Chr21:46416659 [GRCh38]
Chr21:47836573 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.976+19G>A single nucleotide variant not provided [RCV003691972] Chr21:46347017 [GRCh38]
Chr21:47766931 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4839G>A (p.Ala1613=) single nucleotide variant not provided [RCV003882523] Chr21:46401598 [GRCh38]
Chr21:47821512 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5544G>A (p.Glu1848=) single nucleotide variant not provided [RCV003876974] Chr21:46411617 [GRCh38]
Chr21:47831531 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5720A>G (p.Gln1907Arg) single nucleotide variant not provided [RCV003660325] Chr21:46411793 [GRCh38]
Chr21:47831707 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4128C>G (p.Ala1376=) single nucleotide variant not provided [RCV003688363] Chr21:46391288 [GRCh38]
Chr21:47811203 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4716C>T (p.Ile1572=) single nucleotide variant not provided [RCV003574643] Chr21:46399721 [GRCh38]
Chr21:47819635 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8065-13_8065-12del microsatellite not provided [RCV003572821] Chr21:46431513..46431514 [GRCh38]
Chr21:47851427..47851428 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4962+17G>A single nucleotide variant not provided [RCV003660373] Chr21:46401738 [GRCh38]
Chr21:47821652 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6291G>A (p.Leu2097=) single nucleotide variant not provided [RCV003572833] Chr21:46416209 [GRCh38]
Chr21:47836123 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.721-17C>T single nucleotide variant not provided [RCV003881324] Chr21:46346726 [GRCh38]
Chr21:47766640 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2842G>T (p.Glu948Ter) single nucleotide variant not provided [RCV003693518] Chr21:46366816 [GRCh38]
Chr21:47786731 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3841-16A>G single nucleotide variant not provided [RCV003687497] Chr21:46390654 [GRCh38]
Chr21:47810569 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7321-10C>G single nucleotide variant not provided [RCV003547398] Chr21:46427612 [GRCh38]
Chr21:47847526 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3849A>G (p.Glu1283=) single nucleotide variant not provided [RCV003687646] Chr21:46390678 [GRCh38]
Chr21:47810593 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2273A>G (p.Glu758Gly) single nucleotide variant not provided [RCV003713809] Chr21:46363598 [GRCh38]
Chr21:47783513 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2304A>G (p.Thr768=) single nucleotide variant not provided [RCV003715288] Chr21:46363629 [GRCh38]
Chr21:47783544 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7914-15G>A single nucleotide variant not provided [RCV003826138] Chr21:46430492 [GRCh38]
Chr21:47850406 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1345-16A>G single nucleotide variant not provided [RCV003687859] Chr21:46351413 [GRCh38]
Chr21:47771327 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9408C>T (p.Tyr3136=) single nucleotide variant not provided [RCV003573015] Chr21:46440869 [GRCh38]
Chr21:47860782 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2640G>A (p.Glu880=) single nucleotide variant not provided [RCV003878008] Chr21:46366614 [GRCh38]
Chr21:47786529 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3166-13T>C single nucleotide variant not provided [RCV003661689] Chr21:46381681 [GRCh38]
Chr21:47801596 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.654A>G (p.Glu218=) single nucleotide variant not provided [RCV003662368] Chr21:46346142 [GRCh38]
Chr21:47766056 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6165A>G (p.Val2055=) single nucleotide variant not provided [RCV003715511] Chr21:46416083 [GRCh38]
Chr21:47835997 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5343G>A (p.Gly1781=) single nucleotide variant not provided [RCV003689326] Chr21:46411416 [GRCh38]
Chr21:47831330 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7713A>G (p.Val2571=) single nucleotide variant not provided [RCV003547451] Chr21:46430032 [GRCh38]
Chr21:47849946 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7134G>C (p.Leu2378=) single nucleotide variant not provided [RCV003575691] Chr21:46422079 [GRCh38]
Chr21:47841993 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.55-17del deletion not provided [RCV003826972] Chr21:46326360 [GRCh38]
Chr21:47746274 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3822C>T (p.Ala1274=) single nucleotide variant not provided [RCV003880631] Chr21:46389413 [GRCh38]
Chr21:47809328 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.948G>A (p.Glu316=) single nucleotide variant not provided [RCV003544938] Chr21:46346970 [GRCh38]
Chr21:47766884 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1059A>G (p.Glu353=) single nucleotide variant not provided [RCV003689414] Chr21:46349038 [GRCh38]
Chr21:47768952 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9912A>G (p.Thr3304=) single nucleotide variant not provided [RCV003543891] Chr21:46444766 [GRCh38]
Chr21:47864679 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9758G>A (p.Arg3253Gln) single nucleotide variant not provided [RCV003573347] Chr21:46443867 [GRCh38]
Chr21:47863780 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6243G>C (p.Leu2081=) single nucleotide variant not provided [RCV003715440] Chr21:46416161 [GRCh38]
Chr21:47836075 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4764_4765del (p.Asn1590fs) deletion not provided [RCV003881338] Chr21:46399768..46399769 [GRCh38]
Chr21:47819682..47819683 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3420C>G (p.Leu1140=) single nucleotide variant not provided [RCV003692124] Chr21:46385939 [GRCh38]
Chr21:47805854 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6444C>T (p.Asp2148=) single nucleotide variant PCNT-related disorder [RCV003984452]|not provided [RCV003882214] Chr21:46416362 [GRCh38]
Chr21:47836276 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5808G>A (p.Leu1936=) single nucleotide variant not provided [RCV003576240] Chr21:46411881 [GRCh38]
Chr21:47831795 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3165+1G>A single nucleotide variant not provided [RCV003691432] Chr21:46367140 [GRCh38]
Chr21:47787055 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.5145A>G (p.Glu1715=) single nucleotide variant not provided [RCV003686610] Chr21:46411218 [GRCh38]
Chr21:47831132 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6921+13T>C single nucleotide variant not provided [RCV003877430] Chr21:46416852 [GRCh38]
Chr21:47836766 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6039C>T (p.Leu2013=) single nucleotide variant not provided [RCV003686549] Chr21:46412881 [GRCh38]
Chr21:47832795 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9024T>C (p.Asn3008=) single nucleotide variant not provided [RCV003716317] Chr21:46437006 [GRCh38]
Chr21:47856919 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.268-19C>T single nucleotide variant not provided [RCV003692876] Chr21:46334378 [GRCh38]
Chr21:47754292 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.96G>T (p.Ser32=) single nucleotide variant not provided [RCV003877473] Chr21:46326418 [GRCh38]
Chr21:47746332 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.54+12G>C single nucleotide variant not provided [RCV003827822] Chr21:46324294 [GRCh38]
Chr21:47744208 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4792-4del deletion not provided [RCV003691500] Chr21:46401546 [GRCh38]
Chr21:47821460 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9623+9C>G single nucleotide variant not provided [RCV003544252] Chr21:46441093 [GRCh38]
Chr21:47861006 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9996G>A (p.Pro3332=) single nucleotide variant not provided [RCV003877474] Chr21:46445312 [GRCh38]
Chr21:47865225 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6315G>C (p.Leu2105=) single nucleotide variant not provided [RCV003546992] Chr21:46416233 [GRCh38]
Chr21:47836147 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3480C>T (p.Asp1160=) single nucleotide variant not provided [RCV003828370] Chr21:46388757 [GRCh38]
Chr21:47808672 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3841-10G>A single nucleotide variant not provided [RCV003693516] Chr21:46390660 [GRCh38]
Chr21:47810575 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.288G>A (p.Glu96=) single nucleotide variant not provided [RCV003659828] Chr21:46334417 [GRCh38]
Chr21:47754331 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.10008G>A (p.Gln3336=) single nucleotide variant not provided [RCV003545540] Chr21:46445324 [GRCh38]
Chr21:47865237 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2154+19G>T single nucleotide variant not provided [RCV003692897] Chr21:46357210 [GRCh38]
Chr21:47777125 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5361C>A (p.Ala1787=) single nucleotide variant not provided [RCV003690676] Chr21:46411434 [GRCh38]
Chr21:47831348 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1407C>G (p.Arg469=) single nucleotide variant not provided [RCV003876269] Chr21:46351491 [GRCh38]
Chr21:47771405 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.117G>A (p.Ala39=) single nucleotide variant not provided [RCV003714558] Chr21:46326439 [GRCh38]
Chr21:47746353 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1851G>A (p.Glu617=) single nucleotide variant not provided [RCV003690547] Chr21:46355541 [GRCh38]
Chr21:47775456 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5812C>T (p.Gln1938Ter) single nucleotide variant not provided [RCV003665706] Chr21:46411885 [GRCh38]
Chr21:47831799 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.1275C>T (p.Ser425=) single nucleotide variant PCNT-related disorder [RCV003956505]|not provided [RCV003717723] Chr21:46349751 [GRCh38]
Chr21:47769665 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4003+19C>T single nucleotide variant not provided [RCV003851219] Chr21:46390851 [GRCh38]
Chr21:47810766 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2883G>A (p.Glu961=) single nucleotide variant not provided [RCV003697504] Chr21:46366857 [GRCh38]
Chr21:47786772 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.720+13G>A single nucleotide variant not provided [RCV003580388] Chr21:46346221 [GRCh38]
Chr21:47766135 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9700+13C>T single nucleotide variant not provided [RCV003811806] Chr21:46442586 [GRCh38]
Chr21:47862499 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5994+16G>A single nucleotide variant not provided [RCV003835390] Chr21:46412083 [GRCh38]
Chr21:47831997 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4216+21_4216+39dup duplication not provided [RCV003834724] Chr21:46391389..46391390 [GRCh38]
Chr21:47811304..47811305 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.861G>T (p.Arg287=) single nucleotide variant PCNT-related disorder [RCV004738837]|not provided [RCV003698558] Chr21:46346883 [GRCh38]
Chr21:47766797 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8193C>T (p.Ala2731=) single nucleotide variant PCNT-related disorder [RCV004738909]|not provided [RCV003833736] Chr21:46431657 [GRCh38]
Chr21:47851571 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3840+14T>G single nucleotide variant not provided [RCV003580610] Chr21:46389445 [GRCh38]
Chr21:47809360 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1680-6C>T single nucleotide variant not provided [RCV003698688] Chr21:46353981 [GRCh38]
Chr21:47773895 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.765C>T (p.Ser255=) single nucleotide variant not provided [RCV003580587] Chr21:46346787 [GRCh38]
Chr21:47766701 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.747G>T (p.Ala249=) single nucleotide variant PCNT-related disorder [RCV003939244]|not provided [RCV003852290] Chr21:46346769 [GRCh38]
Chr21:47766683 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7175_7176dup (p.Lys2393Ter) duplication not provided [RCV003717866] Chr21:46422118..46422119 [GRCh38]
Chr21:47842032..47842033 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.4662T>C (p.Asp1554=) single nucleotide variant not provided [RCV003664411] Chr21:46399667 [GRCh38]
Chr21:47819581 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8475G>A (p.Glu2825=) single nucleotide variant PCNT-related disorder [RCV004738835]|not provided [RCV003697854] Chr21:46431939 [GRCh38]
Chr21:47851853 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2214T>C (p.Thr738=) single nucleotide variant PCNT-related disorder [RCV004738918]|not provided [RCV003832008] Chr21:46363539 [GRCh38]
Chr21:47783454 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5128A>C (p.Arg1710=) single nucleotide variant PCNT-related disorder [RCV004738921]|not provided [RCV003835059] Chr21:46411201 [GRCh38]
Chr21:47831115 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8961G>T (p.Arg2987=) single nucleotide variant not provided [RCV003850607] Chr21:46436113 [GRCh38]
Chr21:47856026 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5340C>T (p.Ala1780=) single nucleotide variant not provided [RCV003851494] Chr21:46411413 [GRCh38]
Chr21:47831327 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6756C>T (p.Ser2252=) single nucleotide variant not provided [RCV003550179] Chr21:46416674 [GRCh38]
Chr21:47836588 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8997-12T>C single nucleotide variant not provided [RCV003700049] Chr21:46436967 [GRCh38]
Chr21:47856880 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6408G>A (p.Gly2136=) single nucleotide variant not provided [RCV003549168] Chr21:46416326 [GRCh38]
Chr21:47836240 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4125G>A (p.Ala1375=) single nucleotide variant PCNT-related disorder [RCV003901123]|not provided [RCV003548282] Chr21:46391285 [GRCh38]
Chr21:47811200 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9174G>C (p.Ala3058=) single nucleotide variant not provided [RCV003700008] Chr21:46438238 [GRCh38]
Chr21:47858151 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1208-16T>C single nucleotide variant not provided [RCV003697012] Chr21:46349668 [GRCh38]
Chr21:47769582 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5745G>A (p.Ala1915=) single nucleotide variant not provided [RCV003835176] Chr21:46411818 [GRCh38]
Chr21:47831732 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6852A>G (p.Ala2284=) single nucleotide variant not provided [RCV003659189] Chr21:46416770 [GRCh38]
Chr21:47836684 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3627A>G (p.Thr1209=) single nucleotide variant PCNT-related disorder [RCV004738848]|not provided [RCV003717214] Chr21:46389218 [GRCh38]
Chr21:47809133 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7199G>A (p.Arg2400His) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003613031]|PCNT-related disorder [RCV004738885] Chr21:46425850 [GRCh38]
Chr21:47845764 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.1656T>A (p.Ala552=) single nucleotide variant not provided [RCV003850672] Chr21:46353303 [GRCh38]
Chr21:47773217 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7320+16C>T single nucleotide variant not provided [RCV003850669] Chr21:46425987 [GRCh38]
Chr21:47845901 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6975A>G (p.Leu2325=) single nucleotide variant not provided [RCV003663757] Chr21:46418257 [GRCh38]
Chr21:47838171 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7335G>T (p.Ala2445=) single nucleotide variant not provided [RCV003851709] Chr21:46427636 [GRCh38]
Chr21:47847550 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1937-16C>A single nucleotide variant not provided [RCV003699172] Chr21:46356958 [GRCh38]
Chr21:47776873 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8905C>A (p.Arg2969=) single nucleotide variant not provided [RCV003832337] Chr21:46436057 [GRCh38]
Chr21:47855970 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8709T>C (p.Ala2903=) single nucleotide variant not provided [RCV003664823] Chr21:46432173 [GRCh38]
Chr21:47852087 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9076T>C (p.Leu3026=) single nucleotide variant not provided [RCV003557815] Chr21:46437058 [GRCh38]
Chr21:47856971 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3936G>T (p.Leu1312=) single nucleotide variant not provided [RCV003666319] Chr21:46390765 [GRCh38]
Chr21:47810680 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4216+17G>C single nucleotide variant not provided [RCV003849861] Chr21:46391393 [GRCh38]
Chr21:47811308 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.162T>C (p.Ser54=) single nucleotide variant not provided [RCV003549531] Chr21:46326484 [GRCh38]
Chr21:47746398 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2155-7T>C single nucleotide variant not provided [RCV003659314] Chr21:46363473 [GRCh38]
Chr21:47783388 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.177G>A (p.Glu59=) single nucleotide variant PCNT-related disorder [RCV003921356]|not provided [RCV003810763] Chr21:46326499 [GRCh38]
Chr21:47746413 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9747C>T (p.Ser3249=) single nucleotide variant PCNT-related disorder [RCV004738914]|not provided [RCV003834417] Chr21:46443856 [GRCh38]
Chr21:47863769 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6015G>C (p.Leu2005=) single nucleotide variant not provided [RCV003832480] Chr21:46412857 [GRCh38]
Chr21:47832771 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.389_427dup (p.Gln142_Arg143insHisGlyMetPheThrValGlyAspHisProProGluGln) duplication not provided [RCV005084650] Chr21:46334496..46334497 [GRCh38]
Chr21:47754410..47754411 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5473C>T (p.Gln1825Ter) single nucleotide variant PCNT-related disorder [RCV004738809]|not provided [RCV003664944] Chr21:46411546 [GRCh38]
Chr21:47831460 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_006031.6(PCNT):c.6039_6040del (p.Cys2014fs) microsatellite not provided [RCV003834482] Chr21:46412877..46412878 [GRCh38]
Chr21:47832791..47832792 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.6603C>T (p.Arg2201=) single nucleotide variant not provided [RCV003664999] Chr21:46416521 [GRCh38]
Chr21:47836435 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7914-4G>C single nucleotide variant not provided [RCV003717516] Chr21:46430503 [GRCh38]
Chr21:47850417 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1456+11G>T single nucleotide variant not provided [RCV003580216] Chr21:46351551 [GRCh38]
Chr21:47771465 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.345G>A (p.Glu115=) single nucleotide variant PCNT-related disorder [RCV003929360]|not provided [RCV003812191] Chr21:46334474 [GRCh38]
Chr21:47754388 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3771G>T (p.Arg1257=) single nucleotide variant not provided [RCV003580297] Chr21:46389362 [GRCh38]
Chr21:47809277 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7579C>T (p.Gln2527Ter) single nucleotide variant not provided [RCV003548600] Chr21:46428479 [GRCh38]
Chr21:47848393 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.8247T>G (p.Ala2749=) single nucleotide variant not provided [RCV003835760] Chr21:46431711 [GRCh38]
Chr21:47851625 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1345-20G>A single nucleotide variant not provided [RCV003666428] Chr21:46351409 [GRCh38]
Chr21:47771323 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7800_7801inv (p.Ala2601Pro) inversion not provided [RCV003580220] Chr21:46430119..46430120 [GRCh38]
Chr21:47850033..47850034 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.267+18T>C single nucleotide variant not provided [RCV003699475] Chr21:46326607 [GRCh38]
Chr21:47746521 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2133_2140dup (p.Asp714delinsValTer) duplication not provided [RCV003659580] Chr21:46357168..46357169 [GRCh38]
Chr21:47777083..47777084 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.7554G>C (p.Leu2518=) single nucleotide variant PCNT-related disorder [RCV004738813]|not provided [RCV003664053] Chr21:46428454 [GRCh38]
Chr21:47848368 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7690+17A>G single nucleotide variant not provided [RCV003836255] Chr21:46428607 [GRCh38]
Chr21:47848521 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4605G>A (p.Lys1535=) single nucleotide variant not provided [RCV003549740] Chr21:46399610 [GRCh38]
Chr21:47819524 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9957G>C (p.Gly3319=) single nucleotide variant not provided [RCV003665059] Chr21:46444811 [GRCh38]
Chr21:47864724 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9623+15G>A single nucleotide variant not provided [RCV003832701] Chr21:46441099 [GRCh38]
Chr21:47861012 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8967C>T (p.Leu2989=) single nucleotide variant PCNT-related disorder [RCV003966544]|not provided [RCV003659616] Chr21:46436119 [GRCh38]
Chr21:47856032 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1467G>A (p.Glu489=) single nucleotide variant not provided [RCV003548757] Chr21:46353114 [GRCh38]
Chr21:47773028 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1239A>G (p.Gln413=) single nucleotide variant not provided [RCV003697777] Chr21:46349715 [GRCh38]
Chr21:47769629 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3990G>A (p.Leu1330=) single nucleotide variant not provided [RCV003558189] Chr21:46390819 [GRCh38]
Chr21:47810734 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5457C>G (p.Ala1819=) single nucleotide variant PCNT-related disorder [RCV003901296]|not provided [RCV003724183] Chr21:46411530 [GRCh38]
Chr21:47831444 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8454_8455del (p.Gln2819fs) microsatellite not provided [RCV003671690] Chr21:46431916..46431917 [GRCh38]
Chr21:47851830..47851831 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.9860C>G (p.Ser3287Ter) single nucleotide variant not provided [RCV003833341] Chr21:46444714 [GRCh38]
Chr21:47864627 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.7446G>A (p.Gly2482=) single nucleotide variant PCNT-related disorder [RCV003956600]|not provided [RCV003833871] Chr21:46427747 [GRCh38]
Chr21:47847661 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7482C>A (p.Ile2494=) single nucleotide variant not provided [RCV003673329] Chr21:46427783 [GRCh38]
Chr21:47847697 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3036G>A (p.Leu1012=) single nucleotide variant PCNT-related disorder [RCV004723451]|not provided [RCV003726780] Chr21:46367010 [GRCh38]
Chr21:47786925 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7696C>T (p.Leu2566=) single nucleotide variant not provided [RCV003703649] Chr21:46430015 [GRCh38]
Chr21:47849929 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6151-15C>G single nucleotide variant not provided [RCV003667750] Chr21:46416054 [GRCh38]
Chr21:47835968 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3367_3372del (p.Leu1123_Glu1124del) deletion not provided [RCV003667886] Chr21:46385883..46385888 [GRCh38]
Chr21:47805798..47805803 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4564-6C>T single nucleotide variant PCNT-related disorder [RCV004738849]|not provided [RCV003717322] Chr21:46398229 [GRCh38]
Chr21:47818143 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4245C>G (p.Thr1415=) single nucleotide variant not provided [RCV003839618] Chr21:46397293 [GRCh38]
Chr21:47817207 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3840+20G>C single nucleotide variant not provided [RCV003581004] Chr21:46389451 [GRCh38]
Chr21:47809366 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1986C>T (p.Ala662=) single nucleotide variant PCNT-related disorder [RCV004738889]|not provided [RCV003810813] Chr21:46357023 [GRCh38]
Chr21:47776938 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8337C>T (p.Cys2779=) single nucleotide variant PCNT-related disorder [RCV003929319]|not provided [RCV003726095] Chr21:46431801 [GRCh38]
Chr21:47851715 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4845G>A (p.Thr1615=) single nucleotide variant PCNT-related disorder [RCV003919284]|not provided [RCV003561405] Chr21:46401604 [GRCh38]
Chr21:47821518 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6570T>C (p.Leu2190=) single nucleotide variant not provided [RCV003856751] Chr21:46416488 [GRCh38]
Chr21:47836402 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2155-7T>G single nucleotide variant not provided [RCV003562101] Chr21:46363473 [GRCh38]
Chr21:47783388 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.684C>T (p.Ser228=) single nucleotide variant not provided [RCV003836826] Chr21:46346172 [GRCh38]
Chr21:47766086 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7321-14C>G single nucleotide variant not provided [RCV003666924] Chr21:46427608 [GRCh38]
Chr21:47847522 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7690+2_7690+3del deletion not provided [RCV003672254] Chr21:46428591..46428592 [GRCh38]
Chr21:47848505..47848506 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.9701-10T>G single nucleotide variant not provided [RCV003810754] Chr21:46443800 [GRCh38]
Chr21:47863713 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7691-20T>C single nucleotide variant not provided [RCV003852479] Chr21:46429990 [GRCh38]
Chr21:47849904 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9100-14T>G single nucleotide variant not provided [RCV003811749] Chr21:46438150 [GRCh38]
Chr21:47858063 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7530C>G (p.Arg2510=) single nucleotide variant PCNT-related disorder [RCV004723428]|not provided [RCV003701635] Chr21:46428430 [GRCh38]
Chr21:47848344 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9700+18G>C single nucleotide variant not provided [RCV003833063] Chr21:46442591 [GRCh38]
Chr21:47862504 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5029C>T (p.Leu1677=) single nucleotide variant not provided [RCV003833079] Chr21:46402397 [GRCh38]
Chr21:47822311 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3135C>G (p.Thr1045=) single nucleotide variant not provided [RCV003703261] Chr21:46367109 [GRCh38]
Chr21:47787024 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4389G>T (p.Leu1463=) single nucleotide variant PCNT-related disorder [RCV004738917]|not provided [RCV003837025] Chr21:46397437 [GRCh38]
Chr21:47817351 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9714A>G (p.Arg3238=) single nucleotide variant not provided [RCV003672406] Chr21:46443823 [GRCh38]
Chr21:47863736 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2841C>T (p.Ala947=) single nucleotide variant not provided [RCV003549141] Chr21:46366815 [GRCh38]
Chr21:47786730 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5189G>A (p.Arg1730Gln) single nucleotide variant PCNT-related disorder [RCV004738915]|not provided [RCV003834569] Chr21:46411262 [GRCh38]
Chr21:47831176 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7321-13C>T single nucleotide variant not provided [RCV003665540] Chr21:46427609 [GRCh38]
Chr21:47847523 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3216A>G (p.Thr1072=) single nucleotide variant not provided [RCV003839798] Chr21:46381744 [GRCh38]
Chr21:47801659 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1762-6C>T single nucleotide variant not provided [RCV003673762] Chr21:46355446 [GRCh38]
Chr21:47775361 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3464+20C>T single nucleotide variant not provided [RCV003817571] Chr21:46386003 [GRCh38]
Chr21:47805918 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4584+10C>T single nucleotide variant not provided [RCV003671240] Chr21:46398265 [GRCh38]
Chr21:47818179 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3465-14G>A single nucleotide variant not provided [RCV003854755] Chr21:46388728 [GRCh38]
Chr21:47808643 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1388C>G (p.Ser463Ter) single nucleotide variant not provided [RCV003560162] Chr21:46351472 [GRCh38]
Chr21:47771386 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.6786C>T (p.Asp2262=) single nucleotide variant not provided [RCV003672537] Chr21:46416704 [GRCh38]
Chr21:47836618 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9078del (p.Ser3027fs) deletion not provided [RCV003560170] Chr21:46437060 [GRCh38]
Chr21:47856973 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.6801G>A (p.Ser2267=) single nucleotide variant PCNT-related disorder [RCV004738919]|not provided [RCV003832086] Chr21:46416719 [GRCh38]
Chr21:47836633 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8064+14A>G single nucleotide variant not provided [RCV003580709] Chr21:46430671 [GRCh38]
Chr21:47850585 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7320+20C>T single nucleotide variant not provided [RCV003698005] Chr21:46425991 [GRCh38]
Chr21:47845905 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8064+12T>C single nucleotide variant not provided [RCV003670054] Chr21:46430669 [GRCh38]
Chr21:47850583 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2748G>A (p.Thr916=) single nucleotide variant not provided [RCV003723722] Chr21:46366722 [GRCh38]
Chr21:47786637 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5340C>G (p.Ala1780=) single nucleotide variant not provided [RCV003697954] Chr21:46411413 [GRCh38]
Chr21:47831327 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4429C>T (p.Gln1477Ter) single nucleotide variant not provided [RCV003549726] Chr21:46397477 [GRCh38]
Chr21:47817391 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.7321-11T>C single nucleotide variant not provided [RCV003670465] Chr21:46427611 [GRCh38]
Chr21:47847525 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8304C>G (p.Thr2768=) single nucleotide variant not provided [RCV003700681] Chr21:46431768 [GRCh38]
Chr21:47851682 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4353C>T (p.Arg1451=) single nucleotide variant PCNT-related disorder [RCV003893468]|not provided [RCV003838630] Chr21:46397401 [GRCh38]
Chr21:47817315 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6922-8_6922-7del microsatellite not provided [RCV003701961] Chr21:46418193..46418194 [GRCh38]
Chr21:47838107..47838108 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6922-20A>G single nucleotide variant not provided [RCV003663701] Chr21:46418184 [GRCh38]
Chr21:47838098 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7320+14T>G single nucleotide variant not provided [RCV003664616] Chr21:46425985 [GRCh38]
Chr21:47845899 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8262C>T (p.Thr2754=) single nucleotide variant not provided [RCV003817636] Chr21:46431726 [GRCh38]
Chr21:47851640 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7392G>A (p.Glu2464=) single nucleotide variant not provided [RCV003667469] Chr21:46427693 [GRCh38]
Chr21:47847607 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7299_7300del (p.Leu2434fs) deletion not provided [RCV003580268] Chr21:46425949..46425950 [GRCh38]
Chr21:47845863..47845864 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.231C>T (p.Asp77=) single nucleotide variant not provided [RCV003698008] Chr21:46326553 [GRCh38]
Chr21:47746467 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9840-18G>A single nucleotide variant not provided [RCV003664637] Chr21:46444676 [GRCh38]
Chr21:47864589 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7902C>T (p.Val2634=) single nucleotide variant not provided [RCV003717116] Chr21:46430221 [GRCh38]
Chr21:47850135 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4446+14A>G single nucleotide variant not provided [RCV003665074] Chr21:46397508 [GRCh38]
Chr21:47817422 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9099+19C>T single nucleotide variant not provided [RCV003665610] Chr21:46437100 [GRCh38]
Chr21:47857013 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8911C>T (p.Gln2971Ter) single nucleotide variant not provided [RCV003665838] Chr21:46436063 [GRCh38]
Chr21:47855976 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3204A>G (p.Glu1068=) single nucleotide variant not provided [RCV003665880] Chr21:46381732 [GRCh38]
Chr21:47801647 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.676C>T (p.Leu226=) single nucleotide variant not provided [RCV003665818] Chr21:46346164 [GRCh38]
Chr21:47766078 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4692T>A (p.Ile1564=) single nucleotide variant not provided [RCV003840410] Chr21:46399697 [GRCh38]
Chr21:47819611 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.720+8G>A single nucleotide variant not provided [RCV003816282] Chr21:46346216 [GRCh38]
Chr21:47766130 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1032+17C>G single nucleotide variant not provided [RCV003816302] Chr21:46347529 [GRCh38]
Chr21:47767443 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4945dup (p.Leu1649fs) duplication not provided [RCV003548200] Chr21:46401702..46401703 [GRCh38]
Chr21:47821616..47821617 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.9624-2A>G single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005030147]|not provided [RCV003663759] Chr21:46442495 [GRCh38]
Chr21:47862408 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.9366C>T (p.Ser3122=) single nucleotide variant not provided [RCV003698540] Chr21:46440175 [GRCh38]
Chr21:47860088 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4302C>A (p.Ser1434=) single nucleotide variant PCNT-related disorder [RCV004738834]|not provided [RCV003703147] Chr21:46397350 [GRCh38]
Chr21:47817264 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9405G>A (p.Leu3135=) single nucleotide variant PCNT-related disorder [RCV003956574]|not provided [RCV003816405] Chr21:46440866 [GRCh38]
Chr21:47860779 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.252G>A (p.Gly84=) single nucleotide variant not provided [RCV003580925] Chr21:46326574 [GRCh38]
Chr21:47746488 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8758T>C (p.Leu2920=) single nucleotide variant not provided [RCV003548579] Chr21:46435910 [GRCh38]
Chr21:47855823 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4530C>G (p.Ala1510=) single nucleotide variant not provided [RCV003833705] Chr21:46398097 [GRCh38]
Chr21:47818011 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3159G>A (p.Val1053=) single nucleotide variant not provided [RCV003702490] Chr21:46367133 [GRCh38]
Chr21:47787048 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9135G>A (p.Val3045=) single nucleotide variant not provided [RCV003726743] Chr21:46438199 [GRCh38]
Chr21:47858112 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8757A>G (p.Glu2919=) single nucleotide variant not provided [RCV003697214] Chr21:46435909 [GRCh38]
Chr21:47855822 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7548C>T (p.Ser2516=) single nucleotide variant not provided [RCV003716781] Chr21:46428448 [GRCh38]
Chr21:47848362 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6145_6150+54del deletion not provided [RCV003549918] Chr21:46412983..46413042 [GRCh38]
Chr21:47832897..47832956 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.6150+17A>G single nucleotide variant not provided [RCV003670195] Chr21:46413009 [GRCh38]
Chr21:47832923 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1920T>C (p.Ser640=) single nucleotide variant not provided [RCV003557804] Chr21:46355610 [GRCh38]
Chr21:47775525 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5752G>T (p.Glu1918Ter) single nucleotide variant not provided [RCV003700960] Chr21:46411825 [GRCh38]
Chr21:47831739 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.7691-16C>A single nucleotide variant not provided [RCV003669067] Chr21:46429994 [GRCh38]
Chr21:47849908 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.969G>A (p.Gln323=) single nucleotide variant not provided [RCV003702391] Chr21:46346991 [GRCh38]
Chr21:47766905 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9100-9T>G single nucleotide variant not provided [RCV003697732] Chr21:46438155 [GRCh38]
Chr21:47858068 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4029G>A (p.Glu1343=) single nucleotide variant not provided [RCV003664814] Chr21:46391189 [GRCh38]
Chr21:47811104 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7779C>T (p.Asn2593=) single nucleotide variant not provided [RCV003699244] Chr21:46430098 [GRCh38]
Chr21:47850012 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2154+15C>T single nucleotide variant not provided [RCV003817133] Chr21:46357206 [GRCh38]
Chr21:47777121 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.46A>C (p.Arg16=) single nucleotide variant not provided [RCV003702068] Chr21:46324274 [GRCh38]
Chr21:47744188 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4140G>T (p.Ala1380=) single nucleotide variant PCNT-related disorder [RCV003939177]|not provided [RCV003725490] Chr21:46391300 [GRCh38]
Chr21:47811215 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.21G>A (p.Gln7=) single nucleotide variant not provided [RCV003669058] Chr21:46324249 [GRCh38]
Chr21:47744163 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1958_2154+31del deletion not provided [RCV003579674] Chr21:46356991..46357218 [GRCh38]
Chr21:47776906..47777133 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.4641T>C (p.Ala1547=) single nucleotide variant not provided [RCV003817620] Chr21:46399646 [GRCh38]
Chr21:47819560 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5995-13C>G single nucleotide variant not provided [RCV003670085] Chr21:46412824 [GRCh38]
Chr21:47832738 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1458G>A (p.Glu486=) single nucleotide variant not provided [RCV003702085] Chr21:46353105 [GRCh38]
Chr21:47773019 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2950G>T (p.Glu984Ter) single nucleotide variant not provided [RCV003702511] Chr21:46366924 [GRCh38]
Chr21:47786839 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.6922-1G>A single nucleotide variant not provided [RCV003832104] Chr21:46418203 [GRCh38]
Chr21:47838117 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.3588A>T (p.Ala1196=) single nucleotide variant not provided [RCV003839888] Chr21:46388865 [GRCh38]
Chr21:47808780 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8479C>T (p.Gln2827Ter) single nucleotide variant not provided [RCV003672786] Chr21:46431943 [GRCh38]
Chr21:47851857 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.36G>A (p.Val12=) single nucleotide variant PCNT-related disorder [RCV004741514]|not provided [RCV003548239] Chr21:46324264 [GRCh38]
Chr21:47744178 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3612G>A (p.Pro1204=) single nucleotide variant PCNT-related disorder [RCV004741508]|not provided [RCV003549277] Chr21:46389203 [GRCh38]
Chr21:47809118 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9411G>A (p.Leu3137=) single nucleotide variant not provided [RCV003561950] Chr21:46440872 [GRCh38]
Chr21:47860785 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.55-13C>T single nucleotide variant not provided [RCV003674236] Chr21:46326364 [GRCh38]
Chr21:47746278 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9237G>A (p.Leu3079=) single nucleotide variant not provided [RCV003836759] Chr21:46438301 [GRCh38]
Chr21:47858214 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2925C>T (p.Tyr975=) single nucleotide variant PCNT-related disorder [RCV004738916]|not provided [RCV003836820] Chr21:46366899 [GRCh38]
Chr21:47786814 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8020C>T (p.Leu2674=) single nucleotide variant not provided [RCV003838387] Chr21:46430613 [GRCh38]
Chr21:47850527 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4071C>T (p.Ser1357=) single nucleotide variant not provided [RCV003724778] Chr21:46391231 [GRCh38]
Chr21:47811146 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7180-8C>G single nucleotide variant not provided [RCV003725736] Chr21:46425823 [GRCh38]
Chr21:47845737 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3424_3425del (p.Ser1142fs) microsatellite Microcephalic osteodysplastic primordial dwarfism type II [RCV005030200]|not provided [RCV003698096] Chr21:46385940..46385941 [GRCh38]
Chr21:47805855..47805856 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_006031.6(PCNT):c.3957G>A (p.Glu1319=) single nucleotide variant not provided [RCV003561876] Chr21:46390786 [GRCh38]
Chr21:47810701 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9099+17C>T single nucleotide variant not provided [RCV003670287] Chr21:46437098 [GRCh38]
Chr21:47857011 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4792-13T>C single nucleotide variant not provided [RCV003667503] Chr21:46401538 [GRCh38]
Chr21:47821452 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8676G>A (p.Arg2892=) single nucleotide variant PCNT-related disorder [RCV004738907]|not provided [RCV003836144] Chr21:46432140 [GRCh38]
Chr21:47852054 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.267+17T>G single nucleotide variant not provided [RCV003667758] Chr21:46326606 [GRCh38]
Chr21:47746520 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3087T>C (p.Ser1029=) single nucleotide variant PCNT-related disorder [RCV004738820]|not provided [RCV003668870] Chr21:46367061 [GRCh38]
Chr21:47786976 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7668G>A (p.Gln2556=) single nucleotide variant not provided [RCV003673347] Chr21:46428568 [GRCh38]
Chr21:47848482 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3465-12C>G single nucleotide variant not provided [RCV003855653] Chr21:46388730 [GRCh38]
Chr21:47808645 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8508G>A (p.Glu2836=) single nucleotide variant not provided [RCV003702641] Chr21:46431972 [GRCh38]
Chr21:47851886 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1287G>A (p.Arg429=) single nucleotide variant not provided [RCV003549351] Chr21:46349763 [GRCh38]
Chr21:47769677 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8751+13T>C single nucleotide variant not provided [RCV003674089] Chr21:46432228 [GRCh38]
Chr21:47852142 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2481C>T (p.Asp827=) single nucleotide variant PCNT-related disorder [RCV004738910]|not provided [RCV003836264] Chr21:46363806 [GRCh38]
Chr21:47783721 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6690C>T (p.Leu2230=) single nucleotide variant not provided [RCV003671810] Chr21:46416608 [GRCh38]
Chr21:47836522 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7321-7_7321-4del deletion not provided [RCV003855688] Chr21:46427612..46427615 [GRCh38]
Chr21:47847526..47847529 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.640-12T>A single nucleotide variant not provided [RCV003697249] Chr21:46346116 [GRCh38]
Chr21:47766030 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6981A>G (p.Ser2327=) single nucleotide variant not provided [RCV003699259] Chr21:46418263 [GRCh38]
Chr21:47838177 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5223A>G (p.Gln1741=) single nucleotide variant not provided [RCV003669942] Chr21:46411296 [GRCh38]
Chr21:47831210 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7371G>A (p.Val2457=) single nucleotide variant not provided [RCV003816780] Chr21:46427672 [GRCh38]
Chr21:47847586 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7691-1G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005030231]|not provided [RCV003725651] Chr21:46430009 [GRCh38]
Chr21:47849923 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.7914-10C>T single nucleotide variant not provided [RCV003702418] Chr21:46430497 [GRCh38]
Chr21:47850411 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9839+6dup duplication not provided [RCV003702503] Chr21:46443953..46443954 [GRCh38]
Chr21:47863866..47863867 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1680-1G>C single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV004596597]|not provided [RCV003560163] Chr21:46353986 [GRCh38]
Chr21:47773900 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.4976_4980del (p.Lys1659fs) deletion not provided [RCV003560168] Chr21:46402342..46402346 [GRCh38]
Chr21:47822256..47822260 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.8706G>A (p.Ala2902=) single nucleotide variant not provided [RCV003854808] Chr21:46432170 [GRCh38]
Chr21:47852084 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.114G>A (p.Thr38=) single nucleotide variant not provided [RCV003816984] Chr21:46326436 [GRCh38]
Chr21:47746350 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9864A>G (p.Arg3288=) single nucleotide variant not provided [RCV003699399] Chr21:46444718 [GRCh38]
Chr21:47864631 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6186G>A (p.Pro2062=) single nucleotide variant PCNT-related disorder [RCV004738818]|not provided [RCV003673223] Chr21:46416104 [GRCh38]
Chr21:47836018 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3313-14A>G single nucleotide variant not provided [RCV003702559] Chr21:46385818 [GRCh38]
Chr21:47805733 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1345-5del deletion not provided [RCV003836578] Chr21:46351420 [GRCh38]
Chr21:47771334 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.9627A>G (p.Leu3209=) single nucleotide variant PCNT-related disorder [RCV004738933]|not provided [RCV003854842] Chr21:46442500 [GRCh38]
Chr21:47862413 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2250G>T (p.Thr750=) single nucleotide variant not provided [RCV003839261] Chr21:46363575 [GRCh38]
Chr21:47783490 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6126C>T (p.Arg2042=) single nucleotide variant PCNT-related disorder [RCV004738833]|not provided [RCV003703135] Chr21:46412968 [GRCh38]
Chr21:47832882 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4336C>T (p.Gln1446Ter) single nucleotide variant not provided [RCV003700142] Chr21:46397384 [GRCh38]
Chr21:47817298 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.6151-7C>T single nucleotide variant not provided [RCV003666784] Chr21:46416062 [GRCh38]
Chr21:47835976 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9624-17_9624-13del deletion not provided [RCV003701849] Chr21:46442480..46442484 [GRCh38]
Chr21:47862393..47862397 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1995G>A (p.Glu665=) single nucleotide variant not provided [RCV003816541] Chr21:46357032 [GRCh38]
Chr21:47776947 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1753C>T (p.Arg585Ter) single nucleotide variant not provided [RCV003548412] Chr21:46354060 [GRCh38]
Chr21:47773974 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.6864A>C (p.Ala2288=) single nucleotide variant not provided [RCV003669520] Chr21:46416782 [GRCh38]
Chr21:47836696 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4585-2A>G single nucleotide variant not provided [RCV003559378] Chr21:46399588 [GRCh38]
Chr21:47819502 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.1114G>T (p.Glu372Ter) single nucleotide variant not provided [RCV003559600] Chr21:46349093 [GRCh38]
Chr21:47769007 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.8556C>T (p.Thr2852=) single nucleotide variant not provided [RCV003668473] Chr21:46432020 [GRCh38]
Chr21:47851934 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8752-4A>T single nucleotide variant not provided [RCV003668979] Chr21:46435900 [GRCh38]
Chr21:47855813 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.790C>T (p.Leu264=) single nucleotide variant not provided [RCV003725447] Chr21:46346812 [GRCh38]
Chr21:47766726 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1900G>A (p.Glu634Lys) single nucleotide variant not provided [RCV003725947] Chr21:46355590 [GRCh38]
Chr21:47775505 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9609C>T (p.Val3203=) single nucleotide variant not provided [RCV003663941] Chr21:46441070 [GRCh38]
Chr21:47860983 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9336A>G (p.Pro3112=) single nucleotide variant not provided [RCV003852077] Chr21:46440145 [GRCh38]
Chr21:47860058 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9510_9511del (p.Ser3172fs) microsatellite not provided [RCV003673945] Chr21:46440969..46440970 [GRCh38]
Chr21:47860882..47860883 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.5811C>T (p.His1937=) single nucleotide variant not provided [RCV003839998] Chr21:46411884 [GRCh38]
Chr21:47831798 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1032+9del deletion not provided [RCV003817070] Chr21:46347519 [GRCh38]
Chr21:47767433 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8391G>A (p.Glu2797=) single nucleotide variant not provided [RCV003700317] Chr21:46431855 [GRCh38]
Chr21:47851769 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9777C>T (p.His3259=) single nucleotide variant not provided [RCV003666999] Chr21:46443886 [GRCh38]
Chr21:47863799 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3870T>A (p.Arg1290=) single nucleotide variant not provided [RCV003700320] Chr21:46390699 [GRCh38]
Chr21:47810614 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5115+9C>A single nucleotide variant not provided [RCV003671778] Chr21:46402492 [GRCh38]
Chr21:47822406 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3882A>G (p.Glu1294=) single nucleotide variant not provided [RCV003666949] Chr21:46390711 [GRCh38]
Chr21:47810626 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8752-6C>T single nucleotide variant not provided [RCV003671017] Chr21:46435898 [GRCh38]
Chr21:47855811 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3652T>C (p.Leu1218=) single nucleotide variant not provided [RCV003814377] Chr21:46389243 [GRCh38]
Chr21:47809158 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5562C>A (p.Ser1854=) single nucleotide variant not provided [RCV003701439] Chr21:46411635 [GRCh38]
Chr21:47831549 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7690+17A>C single nucleotide variant not provided [RCV003672183] Chr21:46428607 [GRCh38]
Chr21:47848521 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4032A>G (p.Thr1344=) single nucleotide variant not provided [RCV003724601] Chr21:46391192 [GRCh38]
Chr21:47811107 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5655G>A (p.Ala1885=) single nucleotide variant PCNT-related disorder [RCV004738931]|not provided [RCV003854444] Chr21:46411728 [GRCh38]
Chr21:47831642 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3651G>A (p.Glu1217=) single nucleotide variant not provided [RCV003702832] Chr21:46389242 [GRCh38]
Chr21:47809157 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4003+7A>G single nucleotide variant not provided [RCV003580228] Chr21:46390839 [GRCh38]
Chr21:47810754 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.501A>G (p.Glu167=) single nucleotide variant PCNT-related disorder [RCV003901309]|not provided [RCV003717734] Chr21:46334630 [GRCh38]
Chr21:47754544 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9054G>A (p.Thr3018=) single nucleotide variant not provided [RCV003702835] Chr21:46437036 [GRCh38]
Chr21:47856949 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2382T>C (p.Ala794=) single nucleotide variant not provided [RCV003702856] Chr21:46363707 [GRCh38]
Chr21:47783622 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.27C>T (p.Arg9=) single nucleotide variant not provided [RCV003835691] Chr21:46324255 [GRCh38]
Chr21:47744169 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.237del (p.Asp80fs) deletion not provided [RCV003723501] Chr21:46326559 [GRCh38]
Chr21:47746473 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.1207+18G>A single nucleotide variant not provided [RCV003671005] Chr21:46349204 [GRCh38]
Chr21:47769118 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1629G>A (p.Gln543=) single nucleotide variant not provided [RCV003811729] Chr21:46353276 [GRCh38]
Chr21:47773190 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9801C>T (p.Arg3267=) single nucleotide variant not provided [RCV003855826] Chr21:46443910 [GRCh38]
Chr21:47863823 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.977-6T>C single nucleotide variant PCNT-related disorder [RCV003901160]|not provided [RCV003561345] Chr21:46347451 [GRCh38]
Chr21:47767365 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5994+16G>C single nucleotide variant not provided [RCV003669760] Chr21:46412083 [GRCh38]
Chr21:47831997 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6151-15C>T single nucleotide variant not provided [RCV003671152] Chr21:46416054 [GRCh38]
Chr21:47835968 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9967+15C>T single nucleotide variant not provided [RCV003854478] Chr21:46444836 [GRCh38]
Chr21:47864749 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3624G>A (p.Glu1208=) single nucleotide variant not provided [RCV003724675] Chr21:46389215 [GRCh38]
Chr21:47809130 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.267+8dup duplication not provided [RCV003701990] Chr21:46326594..46326595 [GRCh38]
Chr21:47746508..47746509 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4791+1G>A single nucleotide variant not provided [RCV003665220] Chr21:46399797 [GRCh38]
Chr21:47819711 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.5328C>T (p.Leu1776=) single nucleotide variant PCNT-related disorder [RCV004738795]|not provided [RCV003561469] Chr21:46411401 [GRCh38]
Chr21:47831315 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8418G>C (p.Ala2806=) single nucleotide variant not provided [RCV003557683] Chr21:46431882 [GRCh38]
Chr21:47851796 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5097A>G (p.Glu1699=) single nucleotide variant not provided [RCV003723574] Chr21:46402465 [GRCh38]
Chr21:47822379 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7179+12del deletion not provided [RCV003816172] Chr21:46422136 [GRCh38]
Chr21:47842050 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8226G>A (p.Glu2742=) single nucleotide variant not provided [RCV003669079] Chr21:46431690 [GRCh38]
Chr21:47851604 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6150+21_6150+140del deletion not provided [RCV003702392] Chr21:46413004..46413123 [GRCh38]
Chr21:47832918..47833037 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7180-5_7180-4insTCCGCC insertion not provided [RCV003665281] Chr21:46425821..46425822 [GRCh38]
Chr21:47845735..47845736 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8946G>C (p.Leu2982=) single nucleotide variant not provided [RCV003817309] Chr21:46436098 [GRCh38]
Chr21:47856011 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7131G>T (p.Pro2377=) single nucleotide variant not provided [RCV003855954] Chr21:46422076 [GRCh38]
Chr21:47841990 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8637C>T (p.His2879=) single nucleotide variant PCNT-related disorder [RCV004738892]|not provided [RCV003817316] Chr21:46432101 [GRCh38]
Chr21:47852015 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9477G>A (p.Leu3159=) single nucleotide variant not provided [RCV003814737] Chr21:46440938 [GRCh38]
Chr21:47860851 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8368C>T (p.Leu2790=) single nucleotide variant not provided [RCV003668115] Chr21:46431832 [GRCh38]
Chr21:47851746 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6069C>G (p.Leu2023=) single nucleotide variant not provided [RCV003724562] Chr21:46412911 [GRCh38]
Chr21:47832825 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3100C>T (p.Leu1034=) single nucleotide variant not provided [RCV003838291] Chr21:46367074 [GRCh38]
Chr21:47786989 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1095G>A (p.Leu365=) single nucleotide variant not provided [RCV003673131] Chr21:46349074 [GRCh38]
Chr21:47768988 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3113_3143del (p.Val1038fs) deletion not provided [RCV003839166] Chr21:46367087..46367117 [GRCh38]
Chr21:47787002..47787032 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.5995-17_5995-16del microsatellite not provided [RCV003834987] Chr21:46412818..46412819 [GRCh38]
Chr21:47832732..47832733 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4792-16C>T single nucleotide variant not provided [RCV003674188] Chr21:46401535 [GRCh38]
Chr21:47821449 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9624-4G>C single nucleotide variant not provided [RCV003814554] Chr21:46442493 [GRCh38]
Chr21:47862406 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8996+8C>G single nucleotide variant not provided [RCV003724755] Chr21:46436156 [GRCh38]
Chr21:47856069 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.362C>T (p.Thr121Ile) single nucleotide variant not provided [RCV003672756] Chr21:46334491 [GRCh38]
Chr21:47754405 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6150+9A>T single nucleotide variant not provided [RCV003725482] Chr21:46413001 [GRCh38]
Chr21:47832915 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4119G>A (p.Gln1373=) single nucleotide variant PCNT-related disorder [RCV003966663]|not provided [RCV003740465] Chr21:46391279 [GRCh38]
Chr21:47811194 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6186G>C (p.Pro2062=) single nucleotide variant not provided [RCV003718001] Chr21:46416104 [GRCh38]
Chr21:47836018 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4217-19G>A single nucleotide variant not provided [RCV003839829] Chr21:46397246 [GRCh38]
Chr21:47817160 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5116-6C>T single nucleotide variant not provided [RCV003666530] Chr21:46411183 [GRCh38]
Chr21:47831097 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9099+15C>T single nucleotide variant not provided [RCV003837479] Chr21:46437096 [GRCh38]
Chr21:47857009 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4294C>T (p.Leu1432=) single nucleotide variant not provided [RCV003837510] Chr21:46397342 [GRCh38]
Chr21:47817256 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3464+14C>A single nucleotide variant not provided [RCV003671674] Chr21:46385997 [GRCh38]
Chr21:47805912 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7197G>A (p.Val2399=) single nucleotide variant not provided [RCV003815088] Chr21:46425848 [GRCh38]
Chr21:47845762 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9839+15T>C single nucleotide variant not provided [RCV003701350] Chr21:46443963 [GRCh38]
Chr21:47863876 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6151-14T>C single nucleotide variant not provided [RCV003671641] Chr21:46416055 [GRCh38]
Chr21:47835969 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5355G>T (p.Gly1785=) single nucleotide variant not provided [RCV003671670] Chr21:46411428 [GRCh38]
Chr21:47831342 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3271_3272del (p.Leu1091fs) deletion not provided [RCV003560165] Chr21:46381798..46381799 [GRCh38]
Chr21:47801713..47801714 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3608-2A>G single nucleotide variant not provided [RCV003560167] Chr21:46389197 [GRCh38]
Chr21:47809112 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.3028del (p.Thr1010fs) deletion not provided [RCV003668512] Chr21:46367000 [GRCh38]
Chr21:47786915 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3840+17C>T single nucleotide variant not provided [RCV003673045] Chr21:46389448 [GRCh38]
Chr21:47809363 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6921+14C>G single nucleotide variant not provided [RCV003851221] Chr21:46416853 [GRCh38]
Chr21:47836767 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7714G>A (p.Glu2572Lys) single nucleotide variant not provided [RCV003664219] Chr21:46430033 [GRCh38]
Chr21:47849947 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.543G>A (p.Gln181=) single nucleotide variant not provided [RCV003852252] Chr21:46334672 [GRCh38]
Chr21:47754586 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7284G>A (p.Glu2428=) single nucleotide variant not provided [RCV003666107] Chr21:46425935 [GRCh38]
Chr21:47845849 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7887G>A (p.Glu2629=) single nucleotide variant not provided [RCV003665998] Chr21:46430206 [GRCh38]
Chr21:47850120 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2508C>T (p.Cys836=) single nucleotide variant not provided [RCV003559727] Chr21:46363833 [GRCh38]
Chr21:47783748 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9394-17T>C single nucleotide variant not provided [RCV003668762] Chr21:46440838 [GRCh38]
Chr21:47860751 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7690+20C>G single nucleotide variant not provided [RCV003672723] Chr21:46428610 [GRCh38]
Chr21:47848524 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5373G>A (p.Glu1791=) single nucleotide variant not provided [RCV003560619] Chr21:46411446 [GRCh38]
Chr21:47831360 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5106G>A (p.Thr1702=) single nucleotide variant PCNT-related disorder [RCV004738890]|not provided [RCV003816562] Chr21:46402474 [GRCh38]
Chr21:47822388 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1761+11G>A single nucleotide variant not provided [RCV003834811] Chr21:46354079 [GRCh38]
Chr21:47773993 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.651A>G (p.Gln217=) single nucleotide variant not provided [RCV003549969] Chr21:46346139 [GRCh38]
Chr21:47766053 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1033-7A>C single nucleotide variant not provided [RCV003548488] Chr21:46349005 [GRCh38]
Chr21:47768919 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6435G>A (p.Gln2145=) single nucleotide variant not provided [RCV003723338] Chr21:46416353 [GRCh38]
Chr21:47836267 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1229G>A (p.Ser410Asn) single nucleotide variant not provided [RCV003580602] Chr21:46349705 [GRCh38]
Chr21:47769619 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3021T>C (p.Leu1007=) single nucleotide variant not provided [RCV003700429] Chr21:46366995 [GRCh38]
Chr21:47786910 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4792-6T>A single nucleotide variant not provided [RCV003701870] Chr21:46401545 [GRCh38]
Chr21:47821459 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3312+16T>C single nucleotide variant not provided [RCV003838606] Chr21:46381856 [GRCh38]
Chr21:47801771 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2064C>T (p.Leu688=) single nucleotide variant not provided [RCV003580634] Chr21:46357101 [GRCh38]
Chr21:47777016 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9624-6_9624-5del deletion not provided [RCV003697845] Chr21:46442485..46442486 [GRCh38]
Chr21:47862398..47862399 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.33G>A (p.Lys11=) single nucleotide variant not provided [RCV003810887] Chr21:46324261 [GRCh38]
Chr21:47744175 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8163G>A (p.Glu2721=) single nucleotide variant not provided [RCV003700470] Chr21:46431627 [GRCh38]
Chr21:47851541 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4743C>A (p.Leu1581=) single nucleotide variant not provided [RCV003671221] Chr21:46399748 [GRCh38]
Chr21:47819662 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9393+16C>T single nucleotide variant not provided [RCV003837618] Chr21:46440218 [GRCh38]
Chr21:47860131 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4564-14C>T single nucleotide variant not provided [RCV003700972] Chr21:46398221 [GRCh38]
Chr21:47818135 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6150+9del deletion PCNT-related disorder [RCV004738816]|not provided [RCV003671823] Chr21:46413001 [GRCh38]
Chr21:47832915 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1936+13C>T single nucleotide variant not provided [RCV003838094] Chr21:46355639 [GRCh38]
Chr21:47775554 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6922-7_6922-6del deletion not provided [RCV003832084] Chr21:46418197..46418198 [GRCh38]
Chr21:47838111..47838112 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4839G>C (p.Ala1613=) single nucleotide variant not provided [RCV003696972] Chr21:46401598 [GRCh38]
Chr21:47821512 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9700+14T>A single nucleotide variant not provided [RCV003665638] Chr21:46442587 [GRCh38]
Chr21:47862500 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7878C>T (p.Ser2626=) single nucleotide variant not provided [RCV003700475] Chr21:46430197 [GRCh38]
Chr21:47850111 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6922-11T>C single nucleotide variant not provided [RCV003835345] Chr21:46418193 [GRCh38]
Chr21:47838107 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.721-11C>T single nucleotide variant not provided [RCV003814659] Chr21:46346732 [GRCh38]
Chr21:47766646 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8752-8A>C single nucleotide variant not provided [RCV003672280] Chr21:46435896 [GRCh38]
Chr21:47855809 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1762-15G>C single nucleotide variant not provided [RCV003548272] Chr21:46355437 [GRCh38]
Chr21:47775352 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4749A>G (p.Glu1583=) single nucleotide variant not provided [RCV003548731] Chr21:46399754 [GRCh38]
Chr21:47819668 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3840+18G>A single nucleotide variant not provided [RCV003671193] Chr21:46389449 [GRCh38]
Chr21:47809364 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.534A>G (p.Gln178=) single nucleotide variant not provided [RCV003723676] Chr21:46334663 [GRCh38]
Chr21:47754577 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5208A>C (p.Ala1736=) single nucleotide variant not provided [RCV003559888] Chr21:46411281 [GRCh38]
Chr21:47831195 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2118G>A (p.Leu706=) single nucleotide variant not provided [RCV003673021] Chr21:46357155 [GRCh38]
Chr21:47777070 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8988C>A (p.Ala2996=) single nucleotide variant not provided [RCV003673041] Chr21:46436140 [GRCh38]
Chr21:47856053 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3988C>T (p.Leu1330=) single nucleotide variant not provided [RCV003697120] Chr21:46390817 [GRCh38]
Chr21:47810732 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3135C>T (p.Thr1045=) single nucleotide variant not provided [RCV003833243] Chr21:46367109 [GRCh38]
Chr21:47787024 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.246A>G (p.Ala82=) single nucleotide variant not provided [RCV003717159] Chr21:46326568 [GRCh38]
Chr21:47746482 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7581G>A (p.Gln2527=) single nucleotide variant not provided [RCV003836401] Chr21:46428481 [GRCh38]
Chr21:47848395 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3459C>T (p.Ser1153=) single nucleotide variant PCNT-related disorder [RCV004738905]|not provided [RCV003835445] Chr21:46385978 [GRCh38]
Chr21:47805893 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6621A>C (p.Ala2207=) single nucleotide variant not provided [RCV003671234] Chr21:46416539 [GRCh38]
Chr21:47836453 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2990_2991dup (p.Glu998fs) duplication Microcephalic osteodysplastic primordial dwarfism type II [RCV005030150]|not provided [RCV003671651] Chr21:46366962..46366963 [GRCh38]
Chr21:47786877..47786878 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_006031.6(PCNT):c.3453C>A (p.Ser1151=) single nucleotide variant not provided [RCV003701673] Chr21:46385972 [GRCh38]
Chr21:47805887 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1081C>T (p.Leu361=) single nucleotide variant not provided [RCV003838282] Chr21:46349060 [GRCh38]
Chr21:47768974 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8445C>T (p.Ala2815=) single nucleotide variant not provided [RCV003849779] Chr21:46431909 [GRCh38]
Chr21:47851823 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7921C>T (p.Leu2641=) single nucleotide variant not provided [RCV003664792] Chr21:46430514 [GRCh38]
Chr21:47850428 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9375A>G (p.Ala3125=) single nucleotide variant not provided [RCV003659707] Chr21:46440184 [GRCh38]
Chr21:47860097 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9564C>A (p.Ile3188=) single nucleotide variant not provided [RCV003668234] Chr21:46441025 [GRCh38]
Chr21:47860938 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2461C>T (p.Leu821=) single nucleotide variant not provided [RCV003838340] Chr21:46363786 [GRCh38]
Chr21:47783701 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3186G>A (p.Lys1062=) single nucleotide variant not provided [RCV003854620] Chr21:46381714 [GRCh38]
Chr21:47801629 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8752-14del deletion not provided [RCV003816663] Chr21:46435885 [GRCh38]
Chr21:47855798 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.8415A>G (p.Gln2805=) single nucleotide variant not provided [RCV003832283] Chr21:46431879 [GRCh38]
Chr21:47851793 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3162C>T (p.His1054=) single nucleotide variant PCNT-related disorder [RCV003981159]|not provided [RCV003832293] Chr21:46367136 [GRCh38]
Chr21:47787051 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1449A>G (p.Glu483=) single nucleotide variant not provided [RCV003666871] Chr21:46351533 [GRCh38]
Chr21:47771447 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3841-12G>A single nucleotide variant not provided [RCV003815192] Chr21:46390658 [GRCh38]
Chr21:47810573 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4563+16G>T single nucleotide variant not provided [RCV003836990] Chr21:46398146 [GRCh38]
Chr21:47818060 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7891C>T (p.Gln2631Ter) single nucleotide variant not provided [RCV003672372] Chr21:46430210 [GRCh38]
Chr21:47850124 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.4585-13T>G single nucleotide variant not provided [RCV003816031] Chr21:46399577 [GRCh38]
Chr21:47819491 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2188G>T (p.Glu730Ter) single nucleotide variant not provided [RCV003560164] Chr21:46363513 [GRCh38]
Chr21:47783428 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.8846del (p.Gly2949fs) deletion not provided [RCV003560169] Chr21:46435997 [GRCh38]
Chr21:47855910 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.1560G>A (p.Arg520=) single nucleotide variant not provided [RCV003698283] Chr21:46353207 [GRCh38]
Chr21:47773121 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3603G>T (p.Ser1201=) single nucleotide variant PCNT-related disorder [RCV004741511]|not provided [RCV003549488] Chr21:46388880 [GRCh38]
Chr21:47808795 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8403G>A (p.Val2801=) single nucleotide variant not provided [RCV003852397] Chr21:46431867 [GRCh38]
Chr21:47851781 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9786C>T (p.Asp3262=) single nucleotide variant not provided [RCV003723776] Chr21:46443895 [GRCh38]
Chr21:47863808 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9393+16C>G single nucleotide variant not provided [RCV003667441] Chr21:46440218 [GRCh38]
Chr21:47860131 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7675C>T (p.Gln2559Ter) single nucleotide variant not provided [RCV003671145] Chr21:46428575 [GRCh38]
Chr21:47848489 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3464+12C>T single nucleotide variant not provided [RCV003701649] Chr21:46385995 [GRCh38]
Chr21:47805910 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7914-8C>T single nucleotide variant not provided [RCV003816115] Chr21:46430499 [GRCh38]
Chr21:47850413 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.721-9C>T single nucleotide variant PCNT-related disorder [RCV003939225]|not provided [RCV003836183] Chr21:46346734 [GRCh38]
Chr21:47766648 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4263C>T (p.Thr1421=) single nucleotide variant PCNT-related disorder [RCV004738906]|not provided [RCV003837869] Chr21:46397311 [GRCh38]
Chr21:47817225 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2445G>A (p.Thr815=) single nucleotide variant PCNT-related disorder [RCV003901152]|not provided [RCV003558864] Chr21:46363770 [GRCh38]
Chr21:47783685 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.144G>C (p.Ala48=) single nucleotide variant PCNT-related disorder [RCV004738819]|not provided [RCV003668656] Chr21:46326466 [GRCh38]
Chr21:47746380 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6799T>C (p.Ser2267Pro) single nucleotide variant not provided [RCV003725319] Chr21:46416717 [GRCh38]
Chr21:47836631 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4470C>T (p.His1490=) single nucleotide variant not provided [RCV003548580] Chr21:46398037 [GRCh38]
Chr21:47817951 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1937-17G>C single nucleotide variant not provided [RCV003851009] Chr21:46356957 [GRCh38]
Chr21:47776872 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5637T>C (p.Ala1879=) single nucleotide variant not provided [RCV003699469] Chr21:46411710 [GRCh38]
Chr21:47831624 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3867T>C (p.Ser1289=) single nucleotide variant not provided [RCV003723866] Chr21:46390696 [GRCh38]
Chr21:47810611 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8931G>A (p.Ala2977=) single nucleotide variant PCNT-related disorder [RCV003966585]|not provided [RCV003700753] Chr21:46436083 [GRCh38]
Chr21:47855996 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7320+12C>T single nucleotide variant not provided [RCV003667923] Chr21:46425983 [GRCh38]
Chr21:47845897 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1936+18C>T single nucleotide variant not provided [RCV003814626] Chr21:46355644 [GRCh38]
Chr21:47775559 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1761+10C>T single nucleotide variant PCNT-related disorder [RCV003893435]|not provided [RCV003814741] Chr21:46354078 [GRCh38]
Chr21:47773992 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4482G>A (p.Glu1494=) single nucleotide variant not provided [RCV003814744] Chr21:46398049 [GRCh38]
Chr21:47817963 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5230G>T (p.Glu1744Ter) single nucleotide variant not provided [RCV003854914] Chr21:46411303 [GRCh38]
Chr21:47831217 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.9510A>G (p.Thr3170=) single nucleotide variant not provided [RCV003672903] Chr21:46440971 [GRCh38]
Chr21:47860884 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7495-8G>A single nucleotide variant not provided [RCV003659122] Chr21:46428387 [GRCh38]
Chr21:47848301 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5976G>C (p.Pro1992=) single nucleotide variant not provided [RCV003835192] Chr21:46412049 [GRCh38]
Chr21:47831963 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7025-16C>T single nucleotide variant not provided [RCV003700004] Chr21:46421954 [GRCh38]
Chr21:47841868 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6151-6C>G single nucleotide variant not provided [RCV003666620] Chr21:46416063 [GRCh38]
Chr21:47835977 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2994G>A (p.Glu998=) single nucleotide variant not provided [RCV003671484] Chr21:46366968 [GRCh38]
Chr21:47786883 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2835T>C (p.Arg945=) single nucleotide variant PCNT-related disorder [RCV003939168]|not provided [RCV003724899] Chr21:46366809 [GRCh38]
Chr21:47786724 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9363C>T (p.Ala3121=) single nucleotide variant not provided [RCV003838721] Chr21:46440172 [GRCh38]
Chr21:47860085 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1761+12C>T single nucleotide variant not provided [RCV003838778] Chr21:46354080 [GRCh38]
Chr21:47773994 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4016del (p.Gly1339fs) deletion not provided [RCV003697531] Chr21:46391174 [GRCh38]
Chr21:47811089 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.9865T>C (p.Leu3289=) single nucleotide variant not provided [RCV003851102] Chr21:46444719 [GRCh38]
Chr21:47864632 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1179G>A (p.Lys393=) single nucleotide variant not provided [RCV003834679] Chr21:46349158 [GRCh38]
Chr21:47769072 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4962+1G>C single nucleotide variant not provided [RCV003852166] Chr21:46401722 [GRCh38]
Chr21:47821636 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.8997-20G>A single nucleotide variant not provided [RCV003667563] Chr21:46436959 [GRCh38]
Chr21:47856872 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9768C>T (p.Pro3256=) single nucleotide variant not provided [RCV003700913] Chr21:46443877 [GRCh38]
Chr21:47863790 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8725A>T (p.Lys2909Ter) single nucleotide variant not provided [RCV003666727] Chr21:46432189 [GRCh38]
Chr21:47852103 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3271T>C (p.Leu1091=) single nucleotide variant not provided [RCV003671532] Chr21:46381799 [GRCh38]
Chr21:47801714 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9885_9886insGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGATCCCTGACTGCT (p.Ala3295_Ser3296insGlyCysProValTrpLysValArgSerValSerAlaArgProProSerHisLeuGlySerGluGluArgXaaXaaXaaXaaLysLysLysLysLysLysLysArgSerLeuThrAla) insertion not provided [RCV003560351] Chr21:46444722..46444723 [GRCh38]
Chr21:47864635..47864636 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.9840-14_9840-13del deletion not provided [RCV003699153] Chr21:46444680..46444681 [GRCh38]
Chr21:47864593..47864594 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1033-15_1033-13del deletion not provided [RCV003566512] Chr21:46348991..46348993 [GRCh38]
Chr21:47768905..47768907 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7321-1G>A single nucleotide variant not provided [RCV003822661] Chr21:46427621 [GRCh38]
Chr21:47847535 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.1203T>C (p.Ala401=) single nucleotide variant not provided [RCV003677871] Chr21:46349182 [GRCh38]
Chr21:47769096 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1762-20C>T single nucleotide variant not provided [RCV003565748] Chr21:46355432 [GRCh38]
Chr21:47775347 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8751+19C>T single nucleotide variant not provided [RCV003844216] Chr21:46432234 [GRCh38]
Chr21:47852148 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9840-9T>G single nucleotide variant not provided [RCV003568629] Chr21:46444685 [GRCh38]
Chr21:47864598 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5475G>A (p.Gln1825=) single nucleotide variant not provided [RCV003552176] Chr21:46411548 [GRCh38]
Chr21:47831462 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9700+12G>A single nucleotide variant not provided [RCV003864724] Chr21:46442585 [GRCh38]
Chr21:47862498 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9967+13C>G single nucleotide variant not provided [RCV003711977] Chr21:46444834 [GRCh38]
Chr21:47864747 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.268-14C>T single nucleotide variant not provided [RCV003670635] Chr21:46334383 [GRCh38]
Chr21:47754297 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9126C>T (p.Phe3042=) single nucleotide variant not provided [RCV003704088] Chr21:46438190 [GRCh38]
Chr21:47858103 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4248A>G (p.Lys1416=) single nucleotide variant not provided [RCV003728386] Chr21:46397296 [GRCh38]
Chr21:47817210 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5313G>A (p.Leu1771=) single nucleotide variant not provided [RCV003846344] Chr21:46411386 [GRCh38]
Chr21:47831300 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9820del (p.Ser3274fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV005407262]|PCNT-related disorder [RCV004738891]|not provided [RCV003819016] Chr21:46443929 [GRCh38]
Chr21:47863842 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
NM_006031.6(PCNT):c.3567C>T (p.Leu1189=) single nucleotide variant not provided [RCV003564262] Chr21:46388844 [GRCh38]
Chr21:47808759 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1762-6C>G single nucleotide variant not provided [RCV003730634] Chr21:46355446 [GRCh38]
Chr21:47775361 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6135G>A (p.Leu2045=) single nucleotide variant not provided [RCV003709085] Chr21:46412977 [GRCh38]
Chr21:47832891 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.55-17T>A single nucleotide variant not provided [RCV003710287] Chr21:46326360 [GRCh38]
Chr21:47746274 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8895G>C (p.Ala2965=) single nucleotide variant not provided [RCV003708226] Chr21:46436047 [GRCh38]
Chr21:47855960 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1209G>A (p.Arg403=) single nucleotide variant PCNT-related disorder [RCV004723522]|not provided [RCV003864723] Chr21:46349685 [GRCh38]
Chr21:47769599 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6612C>T (p.Ser2204=) single nucleotide variant not provided [RCV003681877] Chr21:46416530 [GRCh38]
Chr21:47836444 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6831T>C (p.Leu2277=) single nucleotide variant not provided [RCV003705029] Chr21:46416749 [GRCh38]
Chr21:47836663 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1761+14C>G single nucleotide variant not provided [RCV003818546] Chr21:46354082 [GRCh38]
Chr21:47773996 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1937-7C>T single nucleotide variant not provided [RCV003727325] Chr21:46356967 [GRCh38]
Chr21:47776882 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4803G>A (p.Val1601=) single nucleotide variant not provided [RCV003728535] Chr21:46401562 [GRCh38]
Chr21:47821476 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.54+20T>A single nucleotide variant not provided [RCV003862719] Chr21:46324302 [GRCh38]
Chr21:47744216 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7617G>A (p.Leu2539=) single nucleotide variant PCNT-related disorder [RCV004738854]|not provided [RCV003732627] Chr21:46428517 [GRCh38]
Chr21:47848431 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7180-17G>A single nucleotide variant not provided [RCV003842879] Chr21:46425814 [GRCh38]
Chr21:47845728 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6780G>C (p.Leu2260=) single nucleotide variant not provided [RCV003708495] Chr21:46416698 [GRCh38]
Chr21:47836612 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6922-17dup duplication not provided [RCV003706458] Chr21:46418184..46418185 [GRCh38]
Chr21:47838098..47838099 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1017C>T (p.Asn339=) single nucleotide variant PCNT-related disorder [RCV003919346]|not provided [RCV003731358] Chr21:46347497 [GRCh38]
Chr21:47767411 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6372C>T (p.Pro2124=) single nucleotide variant not provided [RCV003678738] Chr21:46416290 [GRCh38]
Chr21:47836204 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8944C>T (p.Leu2982=) single nucleotide variant not provided [RCV003553262] Chr21:46436096 [GRCh38]
Chr21:47856009 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3369G>A (p.Leu1123=) single nucleotide variant not provided [RCV003567788] Chr21:46385888 [GRCh38]
Chr21:47805803 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1344+18T>G single nucleotide variant not provided [RCV003681966] Chr21:46349838 [GRCh38]
Chr21:47769752 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2558C>T (p.Ala853Val) single nucleotide variant Inborn genetic diseases [RCV004661683]|not provided [RCV003556788] Chr21:46363883 [GRCh38]
Chr21:47783798 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_006031.6(PCNT):c.4945C>T (p.Leu1649=) single nucleotide variant not provided [RCV003556679] Chr21:46401704 [GRCh38]
Chr21:47821618 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.153G>A (p.Gln51=) single nucleotide variant not provided [RCV003683479] Chr21:46326475 [GRCh38]
Chr21:47746389 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7434C>T (p.Gly2478=) single nucleotide variant PCNT-related disorder [RCV004738836]|not provided [RCV003705192] Chr21:46427735 [GRCh38]
Chr21:47847649 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2410dup (p.Ala804fs) duplication not provided [RCV003563661] Chr21:46363733..46363734 [GRCh38]
Chr21:47783648..47783649 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3699A>G (p.Glu1233=) single nucleotide variant not provided [RCV003845323] Chr21:46389290 [GRCh38]
Chr21:47809205 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8720G>A (p.Trp2907Ter) single nucleotide variant not provided [RCV003678286] Chr21:46432184 [GRCh38]
Chr21:47852098 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3328T>C (p.Leu1110=) single nucleotide variant not provided [RCV003866585] Chr21:46385847 [GRCh38]
Chr21:47805762 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4536G>A (p.Pro1512=) single nucleotide variant PCNT-related disorder [RCV004738934]|not provided [RCV003857225] Chr21:46398103 [GRCh38]
Chr21:47818017 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7360C>T (p.Leu2454=) single nucleotide variant not provided [RCV003705319] Chr21:46427661 [GRCh38]
Chr21:47847575 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3312+13C>G single nucleotide variant not provided [RCV003706700] Chr21:46381853 [GRCh38]
Chr21:47801768 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1457-20C>G single nucleotide variant not provided [RCV003841224] Chr21:46353084 [GRCh38]
Chr21:47772998 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7866G>A (p.Gln2622=) single nucleotide variant not provided [RCV003842444] Chr21:46430185 [GRCh38]
Chr21:47850099 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4455A>T (p.Ala1485=) single nucleotide variant not provided [RCV003670627] Chr21:46398022 [GRCh38]
Chr21:47817936 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3600G>A (p.Leu1200=) single nucleotide variant not provided [RCV003704842] Chr21:46388877 [GRCh38]
Chr21:47808792 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8751+20G>A single nucleotide variant not provided [RCV003858105] Chr21:46432235 [GRCh38]
Chr21:47852149 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.2562C>G (p.Leu854=) single nucleotide variant PCNT-related disorder [RCV004738928]|not provided [RCV003844750] Chr21:46363887 [GRCh38]
Chr21:47783802 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.934del (p.Arg312fs) deletion not provided [RCV003553298] Chr21:46346956 [GRCh38]
Chr21:47766870 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.7448dup (p.His2484fs) duplication Microcephalic osteodysplastic primordial dwarfism type II [RCV005030295]|not provided [RCV003824122] Chr21:46427743..46427744 [GRCh38]
Chr21:47847657..47847658 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_006031.6(PCNT):c.489C>T (p.Asp163=) single nucleotide variant not provided [RCV003710438] Chr21:46334618 [GRCh38]
Chr21:47754532 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3402C>T (p.Asn1134=) single nucleotide variant not provided [RCV003682093] Chr21:46385921 [GRCh38]
Chr21:47805836 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6150+82_6150+83insAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCAC microsatellite not provided [RCV003858550] Chr21:46413003..46413004 [GRCh38]
Chr21:47832917..47832918 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5839C>T (p.Leu1947=) single nucleotide variant not provided [RCV003731853] Chr21:46411912 [GRCh38]
Chr21:47831826 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8535G>A (p.Ser2845=) single nucleotide variant PCNT-related disorder [RCV004738938]|not provided [RCV003862048] Chr21:46431999 [GRCh38]
Chr21:47851913 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3531C>G (p.Val1177=) single nucleotide variant not provided [RCV003703925] Chr21:46388808 [GRCh38]
Chr21:47808723 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6519A>G (p.Glu2173=) single nucleotide variant not provided [RCV003861090] Chr21:46416437 [GRCh38]
Chr21:47836351 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7917C>T (p.Ser2639=) single nucleotide variant not provided [RCV003551617] Chr21:46430510 [GRCh38]
Chr21:47850424 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7321-13_7321-10del microsatellite PCNT-related disorder [RCV003893543]|not provided [RCV003862475] Chr21:46427605..46427608 [GRCh38]
Chr21:47847519..47847522 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4299C>T (p.Leu1433=) single nucleotide variant not provided [RCV003567545] Chr21:46397347 [GRCh38]
Chr21:47817261 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4003+17C>G single nucleotide variant not provided [RCV003712034] Chr21:46390849 [GRCh38]
Chr21:47810764 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8607G>A (p.Ala2869=) single nucleotide variant not provided [RCV003840978] Chr21:46432071 [GRCh38]
Chr21:47851985 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4004-18T>C single nucleotide variant not provided [RCV003821391] Chr21:46391146 [GRCh38]
Chr21:47811061 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.747G>A (p.Ala249=) single nucleotide variant PCNT-related disorder [RCV004738902]|not provided [RCV003821421] Chr21:46346769 [GRCh38]
Chr21:47766683 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3081A>G (p.Leu1027=) single nucleotide variant not provided [RCV003862062] Chr21:46367055 [GRCh38]
Chr21:47786970 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7347G>A (p.Trp2449Ter) single nucleotide variant not provided [RCV003679408] Chr21:46427648 [GRCh38]
Chr21:47847562 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.1989C>T (p.Asp663=) single nucleotide variant not provided [RCV003820225] Chr21:46357026 [GRCh38]
Chr21:47776941 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2064C>A (p.Leu688=) single nucleotide variant not provided [RCV003707075] Chr21:46357101 [GRCh38]
Chr21:47777016 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9839+18A>G single nucleotide variant not provided [RCV003845038] Chr21:46443966 [GRCh38]
Chr21:47863879 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1345-12T>C single nucleotide variant not provided [RCV003863230] Chr21:46351417 [GRCh38]
Chr21:47771331 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9393+8C>G single nucleotide variant not provided [RCV003865161] Chr21:46440210 [GRCh38]
Chr21:47860123 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.976+17C>T single nucleotide variant not provided [RCV003818749] Chr21:46347015 [GRCh38]
Chr21:47766929 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1704G>A (p.Glu568=) single nucleotide variant not provided [RCV003565330] Chr21:46354011 [GRCh38]
Chr21:47773925 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1821G>T (p.Ala607=) single nucleotide variant not provided [RCV003732066] Chr21:46355511 [GRCh38]
Chr21:47775426 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7024+19A>G single nucleotide variant not provided [RCV003562444] Chr21:46418325 [GRCh38]
Chr21:47838239 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6240G>A (p.Leu2080=) single nucleotide variant not provided [RCV003670711] Chr21:46416158 [GRCh38]
Chr21:47836072 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1454del (p.Ser485fs) deletion not provided [RCV003550364] Chr21:46351538 [GRCh38]
Chr21:47771452 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.4890G>A (p.Ser1630=) single nucleotide variant PCNT-related disorder [RCV004738923]|not provided [RCV003843478] Chr21:46401649 [GRCh38]
Chr21:47821563 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9475T>C (p.Leu3159=) single nucleotide variant not provided [RCV003822582] Chr21:46440936 [GRCh38]
Chr21:47860849 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.204C>T (p.Asp68=) single nucleotide variant not provided [RCV003566539] Chr21:46326526 [GRCh38]
Chr21:47746440 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.315G>A (p.Gln105=) single nucleotide variant not provided [RCV003845054] Chr21:46334444 [GRCh38]
Chr21:47754358 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5023G>T (p.Glu1675Ter) single nucleotide variant not provided [RCV003681353] Chr21:46402391 [GRCh38]
Chr21:47822305 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.465G>A (p.Gln155=) single nucleotide variant not provided [RCV003711507] Chr21:46334594 [GRCh38]
Chr21:47754508 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7782C>T (p.Ser2594=) single nucleotide variant not provided [RCV003734895] Chr21:46430101 [GRCh38]
Chr21:47850015 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3500del (p.Gly1167fs) deletion not provided [RCV003704598] Chr21:46388775 [GRCh38]
Chr21:47808690 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.2460C>A (p.Arg820=) single nucleotide variant not provided [RCV003563162] Chr21:46363785 [GRCh38]
Chr21:47783700 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4564-6C>G single nucleotide variant not provided [RCV003707286] Chr21:46398229 [GRCh38]
Chr21:47818143 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1457-8T>C single nucleotide variant PCNT-related disorder [RCV003893337]|not provided [RCV003727209] Chr21:46353096 [GRCh38]
Chr21:47773010 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4471G>T (p.Glu1491Ter) single nucleotide variant not provided [RCV003675936] Chr21:46398038 [GRCh38]
Chr21:47817952 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3834C>T (p.Ser1278=) single nucleotide variant not provided [RCV003843413] Chr21:46389425 [GRCh38]
Chr21:47809340 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3378G>A (p.Leu1126=) single nucleotide variant not provided [RCV003678835] Chr21:46385897 [GRCh38]
Chr21:47805812 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1813C>T (p.Leu605=) single nucleotide variant not provided [RCV003680496] Chr21:46355503 [GRCh38]
Chr21:47775418 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6381C>T (p.Asp2127=) single nucleotide variant not provided [RCV003709752] Chr21:46416299 [GRCh38]
Chr21:47836213 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7321-5T>C single nucleotide variant PCNT-related disorder [RCV004738871]|not provided [RCV003734979] Chr21:46427617 [GRCh38]
Chr21:47847531 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1345-14T>C single nucleotide variant not provided [RCV003854307] Chr21:46351415 [GRCh38]
Chr21:47771329 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2895G>T (p.Leu965=) single nucleotide variant not provided [RCV003562893] Chr21:46366869 [GRCh38]
Chr21:47786784 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4446+7A>T single nucleotide variant not provided [RCV003857630] Chr21:46397501 [GRCh38]
Chr21:47817415 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7963C>T (p.Leu2655=) single nucleotide variant not provided [RCV003707121] Chr21:46430556 [GRCh38]
Chr21:47850470 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5901G>A (p.Gln1967=) single nucleotide variant not provided [RCV003677915] Chr21:46411974 [GRCh38]
Chr21:47831888 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7495-5C>G single nucleotide variant not provided [RCV003678169] Chr21:46428390 [GRCh38]
Chr21:47848304 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.984G>A (p.Leu328=) single nucleotide variant not provided [RCV003563591] Chr21:46347464 [GRCh38]
Chr21:47767378 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5586C>A (p.Ala1862=) single nucleotide variant not provided [RCV003552181] Chr21:46411659 [GRCh38]
Chr21:47831573 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9623+9C>T single nucleotide variant not provided [RCV003863422] Chr21:46441093 [GRCh38]
Chr21:47861006 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6861G>A (p.Leu2287=) single nucleotide variant not provided [RCV003681468] Chr21:46416779 [GRCh38]
Chr21:47836693 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2559G>C (p.Ala853=) single nucleotide variant not provided [RCV003709397] Chr21:46363884 [GRCh38]
Chr21:47783799 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4003+20G>A single nucleotide variant not provided [RCV003682355] Chr21:46390852 [GRCh38]
Chr21:47810767 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3603G>A (p.Ser1201=) single nucleotide variant not provided [RCV003859058] Chr21:46388880 [GRCh38]
Chr21:47808795 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1936+19G>A single nucleotide variant not provided [RCV003841017] Chr21:46355645 [GRCh38]
Chr21:47775560 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9712C>T (p.Arg3238Ter) single nucleotide variant not provided [RCV003728519] Chr21:46443821 [GRCh38]
Chr21:47863734 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.5522_5523delinsGC (p.Asn1841Ser) indel not provided [RCV003843742] Chr21:46411595..46411596 [GRCh38]
Chr21:47831509..47831510 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1621T>C (p.Leu541=) single nucleotide variant not provided [RCV003566857] Chr21:46353268 [GRCh38]
Chr21:47773182 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9393+9G>T single nucleotide variant PCNT-related disorder [RCV004738844]|not provided [RCV003710748] Chr21:46440211 [GRCh38]
Chr21:47860124 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5995-6G>T single nucleotide variant not provided [RCV003732900] Chr21:46412831 [GRCh38]
Chr21:47832745 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5532C>T (p.Leu1844=) single nucleotide variant not provided [RCV003680299] Chr21:46411605 [GRCh38]
Chr21:47831519 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6783G>A (p.Gly2261=) single nucleotide variant not provided [RCV003853046] Chr21:46416701 [GRCh38]
Chr21:47836615 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7691-5C>T single nucleotide variant not provided [RCV003682432] Chr21:46430005 [GRCh38]
Chr21:47849919 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5791_5797del (p.Arg1931fs) deletion not provided [RCV003565727] Chr21:46411860..46411866 [GRCh38]
Chr21:47831774..47831780 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.639+20T>A single nucleotide variant not provided [RCV003703798] Chr21:46334788 [GRCh38]
Chr21:47754702 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2906_2913del (p.Asp969fs) deletion not provided [RCV003551507] Chr21:46366877..46366884 [GRCh38]
Chr21:47786792..47786799 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.268-9C>G single nucleotide variant not provided [RCV003675009] Chr21:46334388 [GRCh38]
Chr21:47754302 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.165G>A (p.Pro55=) single nucleotide variant not provided [RCV003845639] Chr21:46326487 [GRCh38]
Chr21:47746401 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2697T>G (p.Arg899=) single nucleotide variant not provided [RCV003864424] Chr21:46366671 [GRCh38]
Chr21:47786586 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5319C>T (p.Ser1773=) single nucleotide variant not provided [RCV003553579] Chr21:46411392 [GRCh38]
Chr21:47831306 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.219A>G (p.Thr73=) single nucleotide variant PCNT-related disorder [RCV003893496]|not provided [RCV003846936] Chr21:46326541 [GRCh38]
Chr21:47746455 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6556C>T (p.Gln2186Ter) single nucleotide variant not provided [RCV003711750] Chr21:46416474 [GRCh38]
Chr21:47836388 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.1390C>T (p.Gln464Ter) single nucleotide variant not provided [RCV003711751] Chr21:46351474 [GRCh38]
Chr21:47771388 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.9399A>G (p.Glu3133=) single nucleotide variant not provided [RCV003683215] Chr21:46440860 [GRCh38]
Chr21:47860773 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2790G>A (p.Leu930=) single nucleotide variant not provided [RCV003564428] Chr21:46366764 [GRCh38]
Chr21:47786679 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4963-18C>G single nucleotide variant not provided [RCV003820509] Chr21:46402313 [GRCh38]
Chr21:47822227 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1686C>T (p.Ser562=) single nucleotide variant not provided [RCV003818347] Chr21:46353993 [GRCh38]
Chr21:47773907 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4041G>C (p.Leu1347=) single nucleotide variant PCNT-related disorder [RCV004738805]|not provided [RCV003562365] Chr21:46391201 [GRCh38]
Chr21:47811116 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2055G>A (p.Gln685=) single nucleotide variant not provided [RCV003563482] Chr21:46357092 [GRCh38]
Chr21:47777007 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4447-15T>C single nucleotide variant not provided [RCV003564740] Chr21:46397999 [GRCh38]
Chr21:47817913 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5994+20C>A single nucleotide variant not provided [RCV003843286] Chr21:46412087 [GRCh38]
Chr21:47832001 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5056C>T (p.Gln1686Ter) single nucleotide variant not provided [RCV003844737] Chr21:46402424 [GRCh38]
Chr21:47822338 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.6087G>A (p.Gln2029=) single nucleotide variant not provided [RCV003567078] Chr21:46412929 [GRCh38]
Chr21:47832843 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.708G>T (p.Leu236=) single nucleotide variant PCNT-related disorder [RCV003949040]|not provided [RCV003823210] Chr21:46346196 [GRCh38]
Chr21:47766110 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8752-14dup duplication not provided [RCV003682872] Chr21:46435884..46435885 [GRCh38]
Chr21:47855797..47855798 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.3516G>A (p.Thr1172=) single nucleotide variant not provided [RCV003712164] Chr21:46388793 [GRCh38]
Chr21:47808708 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4447-14G>C single nucleotide variant not provided [RCV003859304] Chr21:46398000 [GRCh38]
Chr21:47817914 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7062G>C (p.Gly2354=) single nucleotide variant not provided [RCV003728304] Chr21:46422007 [GRCh38]
Chr21:47841921 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5142T>C (p.Ile1714=) single nucleotide variant not provided [RCV003823409] Chr21:46411215 [GRCh38]
Chr21:47831129 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3608-9A>G single nucleotide variant not provided [RCV003734305] Chr21:46389190 [GRCh38]
Chr21:47809105 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6258C>T (p.Phe2086=) single nucleotide variant PCNT-related disorder [RCV003939182]|not provided [RCV003733340] Chr21:46416176 [GRCh38]
Chr21:47836090 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5577C>T (p.Phe1859=) single nucleotide variant not provided [RCV003857890] Chr21:46411650 [GRCh38]
Chr21:47831564 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4792-8T>C single nucleotide variant not provided [RCV003704794] Chr21:46401543 [GRCh38]
Chr21:47821457 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.183C>T (p.Ser61=) single nucleotide variant not provided [RCV003729473] Chr21:46326505 [GRCh38]
Chr21:47746419 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6480T>C (p.Thr2160=) single nucleotide variant not provided [RCV003670754] Chr21:46416398 [GRCh38]
Chr21:47836312 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6675C>T (p.Ser2225=) single nucleotide variant not provided [RCV003563563] Chr21:46416593 [GRCh38]
Chr21:47836507 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5034T>C (p.His1678=) single nucleotide variant not provided [RCV003550292] Chr21:46402402 [GRCh38]
Chr21:47822316 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5820C>T (p.Phe1940=) single nucleotide variant not provided [RCV003704485] Chr21:46411893 [GRCh38]
Chr21:47831807 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2502G>A (p.Leu834=) single nucleotide variant not provided [RCV003705726] Chr21:46363827 [GRCh38]
Chr21:47783742 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1266C>T (p.Asp422=) single nucleotide variant not provided [RCV003552735] Chr21:46349742 [GRCh38]
Chr21:47769656 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7062G>A (p.Gly2354=) single nucleotide variant not provided [RCV003734388] Chr21:46422007 [GRCh38]
Chr21:47841921 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8673G>A (p.Ala2891=) single nucleotide variant not provided [RCV003733411] Chr21:46432137 [GRCh38]
Chr21:47852051 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2625T>C (p.Arg875=) single nucleotide variant not provided [RCV003728109] Chr21:46366599 [GRCh38]
Chr21:47786514 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7180-17G>C single nucleotide variant not provided [RCV003542252] Chr21:46425814 [GRCh38]
Chr21:47845728 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9701-19T>G single nucleotide variant not provided [RCV003820672] Chr21:46443791 [GRCh38]
Chr21:47863704 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8752-20C>T single nucleotide variant not provided [RCV003862916] Chr21:46435884 [GRCh38]
Chr21:47855797 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4209A>G (p.Arg1403=) single nucleotide variant not provided [RCV003719133] Chr21:46391369 [GRCh38]
Chr21:47811284 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3 copy number gain not specified [RCV003986158] Chr21:34092685..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
NM_006031.6(PCNT):c.6069C>T (p.Leu2023=) single nucleotide variant not provided [RCV003869195] Chr21:46412911 [GRCh38]
Chr21:47832825 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9469T>C (p.Leu3157=) single nucleotide variant not provided [RCV003721971] Chr21:46440930 [GRCh38]
Chr21:47860843 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.720+7C>T single nucleotide variant not provided [RCV003872413] Chr21:46346215 [GRCh38]
Chr21:47766129 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9738C>G (p.Thr3246=) single nucleotide variant not provided [RCV003872501] Chr21:46443847 [GRCh38]
Chr21:47863760 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6922-6T>C single nucleotide variant not provided [RCV003553359] Chr21:46418198 [GRCh38]
Chr21:47838112 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6445dup (p.Ala2149fs) duplication not provided [RCV003863174] Chr21:46416362..46416363 [GRCh38]
Chr21:47836276..47836277 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.9100-12C>T single nucleotide variant not provided [RCV003682285] Chr21:46438152 [GRCh38]
Chr21:47858065 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.268-13del deletion not provided [RCV003721005] Chr21:46334383 [GRCh38]
Chr21:47754297 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9100-17_9100-14del microsatellite not provided [RCV003685283] Chr21:46438143..46438146 [GRCh38]
Chr21:47858056..47858059 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3636T>C (p.Asp1212=) single nucleotide variant not provided [RCV003685320] Chr21:46389227 [GRCh38]
Chr21:47809142 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6081G>A (p.Gln2027=) single nucleotide variant not provided [RCV003551707] Chr21:46412923 [GRCh38]
Chr21:47832837 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1320G>A (p.Glu440=) single nucleotide variant not provided [RCV003551708] Chr21:46349796 [GRCh38]
Chr21:47769710 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.54+20T>C single nucleotide variant not provided [RCV003551736] Chr21:46324302 [GRCh38]
Chr21:47744216 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4818G>A (p.Gln1606=) single nucleotide variant not provided [RCV003846933] Chr21:46401577 [GRCh38]
Chr21:47821491 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.852C>T (p.Leu284=) single nucleotide variant not provided [RCV003709732] Chr21:46346874 [GRCh38]
Chr21:47766788 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5886C>G (p.Pro1962=) single nucleotide variant not provided [RCV003863302] Chr21:46411959 [GRCh38]
Chr21:47831873 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1167T>A (p.Ala389=) single nucleotide variant not provided [RCV003853068] Chr21:46349146 [GRCh38]
Chr21:47769060 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8277G>A (p.Glu2759=) single nucleotide variant not provided [RCV003684052] Chr21:46431741 [GRCh38]
Chr21:47851655 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4986A>G (p.Leu1662=) single nucleotide variant not provided [RCV003869452] Chr21:46402354 [GRCh38]
Chr21:47822268 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.723C>T (p.Ala241=) single nucleotide variant not provided [RCV003720523] Chr21:46346745 [GRCh38]
Chr21:47766659 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5115+20C>T single nucleotide variant not provided [RCV003859702] Chr21:46402503 [GRCh38]
Chr21:47822417 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9968-21_9968-19del deletion not provided [RCV003566366] Chr21:46445262..46445264 [GRCh38]
Chr21:47865175..47865177 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7914-18T>G single nucleotide variant not provided [RCV003566231] Chr21:46430489 [GRCh38]
Chr21:47850403 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.993G>A (p.Lys331=) single nucleotide variant not provided [RCV003553654] Chr21:46347473 [GRCh38]
Chr21:47767387 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.129C>T (p.Gly43=) single nucleotide variant not provided [RCV003722336] Chr21:46326451 [GRCh38]
Chr21:47746365 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3354G>A (p.Glu1118=) single nucleotide variant PCNT-related disorder [RCV004738946]|not provided [RCV003870975] Chr21:46385873 [GRCh38]
Chr21:47805788 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8439G>A (p.Gln2813=) single nucleotide variant not provided [RCV003563538] Chr21:46431903 [GRCh38]
Chr21:47851817 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.619C>T (p.Gln207Ter) single nucleotide variant not provided [RCV003564916] Chr21:46334748 [GRCh38]
Chr21:47754662 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.4077C>T (p.His1359=) single nucleotide variant not provided [RCV003678697] Chr21:46391237 [GRCh38]
Chr21:47811152 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3312+16T>G single nucleotide variant not provided [RCV003861296] Chr21:46381856 [GRCh38]
Chr21:47801771 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5772G>A (p.Ala1924=) single nucleotide variant PCNT-related disorder [RCV003901338]|not provided [RCV003733252] Chr21:46411845 [GRCh38]
Chr21:47831759 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2155-13_2155-12del deletion not provided [RCV003684245] Chr21:46363466..46363467 [GRCh38]
Chr21:47783381..47783382 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7024+20T>C single nucleotide variant not provided [RCV003719457] Chr21:46418326 [GRCh38]
Chr21:47838240 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2169A>C (p.Leu723=) single nucleotide variant not provided [RCV003683697] Chr21:46363494 [GRCh38]
Chr21:47783409 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3 copy number gain not specified [RCV003986152] Chr21:26929299..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
NM_006031.6(PCNT):c.2096_2102del (p.Asn699fs) microsatellite not provided [RCV003542807] Chr21:46357123..46357129 [GRCh38]
Chr21:47777038..47777044 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.8292G>A (p.Glu2764=) single nucleotide variant PCNT-related disorder [RCV004738900]|not provided [RCV003821076] Chr21:46431756 [GRCh38]
Chr21:47851670 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9720G>T (p.Pro3240=) single nucleotide variant not provided [RCV003722581] Chr21:46443829 [GRCh38]
Chr21:47863742 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1 copy number loss not specified [RCV003986157] Chr21:35872675..48097372 [GRCh37]
Chr21:21q22.12-22.3		 pathogenic
NM_006031.6(PCNT):c.5994+14G>A single nucleotide variant not provided [RCV003857098] Chr21:46412081 [GRCh38]
Chr21:47831995 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6306A>G (p.Ser2102=) single nucleotide variant not provided [RCV003563676] Chr21:46416224 [GRCh38]
Chr21:47836138 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4447-17G>A single nucleotide variant not provided [RCV003822730] Chr21:46397997 [GRCh38]
Chr21:47817911 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9700+11A>T single nucleotide variant not provided [RCV003845335] Chr21:46442584 [GRCh38]
Chr21:47862497 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5995-20C>T single nucleotide variant not provided [RCV003684412] Chr21:46412817 [GRCh38]
Chr21:47832731 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4039C>T (p.Leu1347=) single nucleotide variant not provided [RCV003684540] Chr21:46391199 [GRCh38]
Chr21:47811114 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8160G>A (p.Lys2720=) single nucleotide variant PCNT-related disorder [RCV004738861]|not provided [RCV003737140] Chr21:46431624 [GRCh38]
Chr21:47851538 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7615C>T (p.Leu2539=) single nucleotide variant not provided [RCV003867235] Chr21:46428515 [GRCh38]
Chr21:47848429 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9394-10T>C single nucleotide variant not provided [RCV003840947] Chr21:46440845 [GRCh38]
Chr21:47860758 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9046C>T (p.Leu3016=) single nucleotide variant not provided [RCV003712181] Chr21:46437028 [GRCh38]
Chr21:47856941 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4544_4551del (p.Trp1515fs) deletion not provided [RCV003682965] Chr21:46398106..46398113 [GRCh38]
Chr21:47818020..47818027 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3175G>A (p.Gly1059Arg) single nucleotide variant not provided [RCV003682980] Chr21:46381703 [GRCh38]
Chr21:47801618 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8487C>T (p.His2829=) single nucleotide variant not provided [RCV003721238] Chr21:46431951 [GRCh38]
Chr21:47851865 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2565C>T (p.His855=) single nucleotide variant PCNT-related disorder [RCV004738948]|not provided [RCV003871366] Chr21:46363890 [GRCh38]
Chr21:47783805 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3471C>T (p.Ala1157=) single nucleotide variant not provided [RCV003563868] Chr21:46388748 [GRCh38]
Chr21:47808663 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4447-17G>T single nucleotide variant not provided [RCV003823124] Chr21:46397997 [GRCh38]
Chr21:47817911 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.783G>A (p.Gln261=) single nucleotide variant not provided [RCV003710431] Chr21:46346805 [GRCh38]
Chr21:47766719 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.189C>T (p.Leu63=) single nucleotide variant not provided [RCV003684126] Chr21:46326511 [GRCh38]
Chr21:47746425 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9274-7C>G single nucleotide variant not provided [RCV003557552] Chr21:46440076 [GRCh38]
Chr21:47859989 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.25_34del (p.Arg9fs) deletion not provided [RCV003721333] Chr21:46324251..46324260 [GRCh38]
Chr21:47744165..47744174 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.7320+17A>G single nucleotide variant not provided [RCV003565255] Chr21:46425988 [GRCh38]
Chr21:47845902 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1542C>G (p.Ser514=) single nucleotide variant not provided [RCV003823326] Chr21:46353189 [GRCh38]
Chr21:47773103 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9285G>A (p.Arg3095=) single nucleotide variant not provided [RCV003868142] Chr21:46440094 [GRCh38]
Chr21:47860007 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3165+13G>A single nucleotide variant not provided [RCV003684265] Chr21:46367152 [GRCh38]
Chr21:47787067 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9306A>G (p.Glu3102=) single nucleotide variant not provided [RCV003676256] Chr21:46440115 [GRCh38]
Chr21:47860028 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3222G>A (p.Arg1074=) single nucleotide variant PCNT-related disorder [RCV004738930]|not provided [RCV003858635] Chr21:46381750 [GRCh38]
Chr21:47801665 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6534C>G (p.Pro2178=) single nucleotide variant PCNT-related disorder [RCV004738927]|not provided [RCV003842448] Chr21:46416452 [GRCh38]
Chr21:47836366 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5871T>G (p.Ala1957=) single nucleotide variant PCNT-related disorder [RCV003893500]|not provided [RCV003842455] Chr21:46411944 [GRCh38]
Chr21:47831858 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6342C>A (p.Ser2114=) single nucleotide variant PCNT-related disorder [RCV003984446]|not provided [RCV003860332] Chr21:46416260 [GRCh38]
Chr21:47836174 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2193A>G (p.Leu731=) single nucleotide variant not provided [RCV003823408] Chr21:46363518 [GRCh38]
Chr21:47783433 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.189C>G (p.Leu63=) single nucleotide variant not provided [RCV003552656] Chr21:46326511 [GRCh38]
Chr21:47746425 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2610-15A>G single nucleotide variant not provided [RCV003823423] Chr21:46366569 [GRCh38]
Chr21:47786484 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2154+10G>A single nucleotide variant not provided [RCV003554692] Chr21:46357201 [GRCh38]
Chr21:47777116 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1937-1G>C single nucleotide variant not provided [RCV003554675] Chr21:46356973 [GRCh38]
Chr21:47776888 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.1457-12G>C single nucleotide variant not provided [RCV003864346] Chr21:46353092 [GRCh38]
Chr21:47773006 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8682C>T (p.Ser2894=) single nucleotide variant not provided [RCV003866417] Chr21:46432146 [GRCh38]
Chr21:47852060 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9274-4A>G single nucleotide variant not provided [RCV003719434] Chr21:46440079 [GRCh38]
Chr21:47859992 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3312+13C>T single nucleotide variant not provided [RCV003867643] Chr21:46381853 [GRCh38]
Chr21:47801768 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4755G>A (p.Val1585=) single nucleotide variant not provided [RCV003684366] Chr21:46399760 [GRCh38]
Chr21:47819674 [GRCh37]
Chr21:21q22.3		 likely benign
NC_000021.9:g.46363480del deletion not provided [RCV003721483] Chr21:46363479 [GRCh38]
Chr21:47783394 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.7691-18T>C single nucleotide variant not provided [RCV003675126] Chr21:46429992 [GRCh38]
Chr21:47849906 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1785G>A (p.Ala595=) single nucleotide variant not provided [RCV003844045] Chr21:46355475 [GRCh38]
Chr21:47775390 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9987C>T (p.Ser3329=) single nucleotide variant not provided [RCV003854192] Chr21:46445303 [GRCh38]
Chr21:47865216 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6922-9T>A single nucleotide variant not provided [RCV003854232] Chr21:46418195 [GRCh38]
Chr21:47838109 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8834A>G (p.Asp2945Gly) single nucleotide variant not provided [RCV003684513] Chr21:46435986 [GRCh38]
Chr21:47855899 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7492C>T (p.Gln2498Ter) single nucleotide variant not provided [RCV003684497] Chr21:46427793 [GRCh38]
Chr21:47847707 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.2154+20C>G single nucleotide variant not provided [RCV003841258] Chr21:46357211 [GRCh38]
Chr21:47777126 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4962+14G>A single nucleotide variant not provided [RCV003707165] Chr21:46401735 [GRCh38]
Chr21:47821649 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1 copy number loss not specified [RCV003986159] Chr21:44577746..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3313-6C>T single nucleotide variant not provided [RCV003868630] Chr21:46385826 [GRCh38]
Chr21:47805741 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.268-8C>G single nucleotide variant PCNT-related disorder [RCV004738881]|not provided [RCV003737841] Chr21:46334389 [GRCh38]
Chr21:47754303 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7429_7430del (p.Ser2477fs) deletion not provided [RCV003729146] Chr21:46427730..46427731 [GRCh38]
Chr21:47847644..47847645 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.4719C>T (p.Asn1573=) single nucleotide variant not provided [RCV003679705] Chr21:46399724 [GRCh38]
Chr21:47819638 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1032+11T>A single nucleotide variant not provided [RCV003681717] Chr21:46347523 [GRCh38]
Chr21:47767437 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9654A>G (p.Glu3218=) single nucleotide variant not provided [RCV003868072] Chr21:46442527 [GRCh38]
Chr21:47862440 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5436G>A (p.Arg1812=) single nucleotide variant not provided [RCV003705926] Chr21:46411509 [GRCh38]
Chr21:47831423 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1679+16C>T single nucleotide variant not provided [RCV003821909] Chr21:46353342 [GRCh38]
Chr21:47773256 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2058T>G (p.Thr686=) single nucleotide variant not provided [RCV003846331] Chr21:46357095 [GRCh38]
Chr21:47777010 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6903T>C (p.His2301=) single nucleotide variant not provided [RCV003711133] Chr21:46416821 [GRCh38]
Chr21:47836735 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8937G>A (p.Arg2979=) single nucleotide variant not provided [RCV003718913] Chr21:46436089 [GRCh38]
Chr21:47856002 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.483C>G (p.Val161=) single nucleotide variant not provided [RCV003557102] Chr21:46334612 [GRCh38]
Chr21:47754526 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1 copy number loss not specified [RCV003986150] Chr21:43603041..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1 copy number loss not specified [RCV003986156] Chr21:45102309..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.6915G>A (p.Thr2305=) single nucleotide variant PCNT-related disorder [RCV004738856]|not provided [RCV003730818] Chr21:46416833 [GRCh38]
Chr21:47836747 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4597C>T (p.Gln1533Ter) single nucleotide variant not provided [RCV003711186] Chr21:46399602 [GRCh38]
Chr21:47819516 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.2708T>C (p.Leu903Pro) single nucleotide variant not provided [RCV003734721] Chr21:46366682 [GRCh38]
Chr21:47786597 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8996+10C>T single nucleotide variant PCNT-related disorder [RCV004738936]|not provided [RCV003867098] Chr21:46436158 [GRCh38]
Chr21:47856071 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3367T>C (p.Leu1123=) single nucleotide variant not provided [RCV003685578] Chr21:46385886 [GRCh38]
Chr21:47805801 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3 copy number gain not specified [RCV003986160] Chr21:15023401..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_006031.6(PCNT):c.9839+8T>C single nucleotide variant PCNT-related disorder [RCV004738823]|not provided [RCV003685054] Chr21:46443956 [GRCh38]
Chr21:47863869 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9624-10T>C single nucleotide variant PCNT-related disorder [RCV004738825]|not provided [RCV003683735] Chr21:46442487 [GRCh38]
Chr21:47862400 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3007A>G (p.Lys1003Glu) single nucleotide variant PCNT-related disorder [RCV003939480] Chr21:46366981 [GRCh38]
Chr21:47786896 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3 copy number gain not specified [RCV003986149] Chr21:30685776..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
NM_006031.6(PCNT):c.5562_5563dup (p.Arg1855fs) duplication not provided [RCV003563075] Chr21:46411633..46411634 [GRCh38]
Chr21:47831547..47831548 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.7725G>C (p.Lys2575Asn) single nucleotide variant not provided [RCV003844373] Chr21:46430044 [GRCh38]
Chr21:47849958 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6720C>T (p.Pro2240=) single nucleotide variant not provided [RCV003681817] Chr21:46416638 [GRCh38]
Chr21:47836552 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6150+44_6150+45insCACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTG microsatellite not provided [RCV003707376] Chr21:46413003..46413004 [GRCh38]
Chr21:47832917..47832918 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4506G>A (p.Leu1502=) single nucleotide variant PCNT-related disorder [RCV004738937]|not provided [RCV003867112] Chr21:46398073 [GRCh38]
Chr21:47817987 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4408C>T (p.Leu1470=) single nucleotide variant PCNT-related disorder [RCV004723438]|not provided [RCV003720054] Chr21:46397456 [GRCh38]
Chr21:47817370 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3465-20A>G single nucleotide variant not provided [RCV003685893] Chr21:46388722 [GRCh38]
Chr21:47808637 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1837dup (p.Cys613fs) duplication not provided [RCV003567811] Chr21:46355526..46355527 [GRCh38]
Chr21:47775441..47775442 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.7024+1G>A single nucleotide variant not provided [RCV003732704] Chr21:46418307 [GRCh38]
Chr21:47838221 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.7690+19A>G single nucleotide variant not provided [RCV003867150] Chr21:46428609 [GRCh38]
Chr21:47848523 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.267+14A>G single nucleotide variant not provided [RCV003868266] Chr21:46326603 [GRCh38]
Chr21:47746517 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.-6A>T single nucleotide variant PCNT-related disorder [RCV003941499] Chr21:46324223 [GRCh38]
Chr21:47744137 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9303C>T (p.Asp3101=) single nucleotide variant not provided [RCV003819293] Chr21:46440112 [GRCh38]
Chr21:47860025 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7321-17C>G single nucleotide variant not provided [RCV003843115] Chr21:46427605 [GRCh38]
Chr21:47847519 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5718G>A (p.Glu1906=) single nucleotide variant not provided [RCV003859438] Chr21:46411791 [GRCh38]
Chr21:47831705 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5994+11C>G single nucleotide variant not provided [RCV003822160] Chr21:46412078 [GRCh38]
Chr21:47831992 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3464+15G>A single nucleotide variant not provided [RCV003824270] Chr21:46385998 [GRCh38]
Chr21:47805913 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5968T>C (p.Leu1990=) single nucleotide variant not provided [RCV003719100] Chr21:46412041 [GRCh38]
Chr21:47831955 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3597C>G (p.Ala1199=) single nucleotide variant not provided [RCV003683991] Chr21:46388874 [GRCh38]
Chr21:47808789 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9726T>C (p.Ser3242=) single nucleotide variant not provided [RCV003868482] Chr21:46443835 [GRCh38]
Chr21:47863748 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2499C>A (p.Ala833=) single nucleotide variant not provided [RCV003871067] Chr21:46363824 [GRCh38]
Chr21:47783739 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7569G>A (p.Ala2523=) single nucleotide variant not provided [RCV003844708] Chr21:46428469 [GRCh38]
Chr21:47848383 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3579C>T (p.Asp1193=) single nucleotide variant PCNT-related disorder [RCV003939181]|not provided [RCV003731063] Chr21:46388856 [GRCh38]
Chr21:47808771 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1854G>A (p.Gly618=) single nucleotide variant not provided [RCV003684050] Chr21:46355544 [GRCh38]
Chr21:47775459 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3678A>G (p.Ala1226=) single nucleotide variant not provided [RCV003704966] Chr21:46389269 [GRCh38]
Chr21:47809184 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3166-6G>A single nucleotide variant not provided [RCV003858142] Chr21:46381688 [GRCh38]
Chr21:47801603 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6324C>T (p.Ser2108=) single nucleotide variant not provided [RCV003706314] Chr21:46416242 [GRCh38]
Chr21:47836156 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3165+19G>A single nucleotide variant not provided [RCV003820858] Chr21:46367158 [GRCh38]
Chr21:47787073 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.55-18A>G single nucleotide variant not provided [RCV003709655] Chr21:46326359 [GRCh38]
Chr21:47746273 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6447G>T (p.Ala2149=) single nucleotide variant not provided [RCV003867279] Chr21:46416365 [GRCh38]
Chr21:47836279 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3166-20A>G single nucleotide variant not provided [RCV003868202] Chr21:46381674 [GRCh38]
Chr21:47801589 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9840-8G>T single nucleotide variant not provided [RCV003869926] Chr21:46444686 [GRCh38]
Chr21:47864599 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9273+19C>A single nucleotide variant not provided [RCV003703935] Chr21:46438356 [GRCh38]
Chr21:47858269 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3927C>T (p.His1309=) single nucleotide variant not provided [RCV003563487] Chr21:46390756 [GRCh38]
Chr21:47810671 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5496G>A (p.Glu1832=) single nucleotide variant not provided [RCV003843421] Chr21:46411569 [GRCh38]
Chr21:47831483 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9774C>T (p.Gly3258=) single nucleotide variant not provided [RCV003550376] Chr21:46443883 [GRCh38]
Chr21:47863796 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4564-4G>A single nucleotide variant not provided [RCV003845061] Chr21:46398231 [GRCh38]
Chr21:47818145 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3009A>G (p.Lys1003=) single nucleotide variant PCNT-related disorder [RCV003892226]|not provided [RCV003737274] Chr21:46366983 [GRCh38]
Chr21:47786898 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6762C>T (p.Cys2254=) single nucleotide variant PCNT-related disorder [RCV004738862]|not provided [RCV003737298] Chr21:46416680 [GRCh38]
Chr21:47836594 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1891T>C (p.Leu631=) single nucleotide variant PCNT-related disorder [RCV003939175]|not provided [RCV003722887] Chr21:46355581 [GRCh38]
Chr21:47775496 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2085A>C (p.Leu695=) single nucleotide variant not provided [RCV003722897] Chr21:46357122 [GRCh38]
Chr21:47777037 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8064+1G>A single nucleotide variant not provided [RCV003678643] Chr21:46430658 [GRCh38]
Chr21:47850572 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.6974T>G (p.Leu2325Ter) single nucleotide variant not provided [RCV003707994] Chr21:46418256 [GRCh38]
Chr21:47838170 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3585C>T (p.Gly1195=) single nucleotide variant not provided [RCV003847120] Chr21:46388862 [GRCh38]
Chr21:47808777 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9849A>G (p.Pro3283=) single nucleotide variant not provided [RCV003557550] Chr21:46444703 [GRCh38]
Chr21:47864616 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9450T>A (p.Ile3150=) single nucleotide variant not provided [RCV003720369] Chr21:46440911 [GRCh38]
Chr21:47860824 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2046G>A (p.Ser682=) single nucleotide variant not provided [RCV003721687] Chr21:46357083 [GRCh38]
Chr21:47776998 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9623+10A>G single nucleotide variant PCNT-related disorder [RCV004738942]|not provided [RCV003870156] Chr21:46441094 [GRCh38]
Chr21:47861007 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6279C>T (p.Asp2093=) single nucleotide variant not provided [RCV003705269] Chr21:46416197 [GRCh38]
Chr21:47836111 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4003+16C>A single nucleotide variant not provided [RCV003566681] Chr21:46390848 [GRCh38]
Chr21:47810763 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1936+14G>C single nucleotide variant not provided [RCV003568556] Chr21:46355640 [GRCh38]
Chr21:47775555 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1821G>C (p.Ala607=) single nucleotide variant PCNT-related disorder [RCV004738791]|not provided [RCV003554145] Chr21:46355511 [GRCh38]
Chr21:47775426 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4962+20A>G single nucleotide variant not provided [RCV003867550] Chr21:46401741 [GRCh38]
Chr21:47821655 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.954G>T (p.Val318=) single nucleotide variant not provided [RCV003723183] Chr21:46346976 [GRCh38]
Chr21:47766890 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4446+17A>G single nucleotide variant not provided [RCV003818486] Chr21:46397511 [GRCh38]
Chr21:47817425 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3246T>A (p.Pro1082=) single nucleotide variant not provided [RCV003704142] Chr21:46381774 [GRCh38]
Chr21:47801689 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2005A>C (p.Arg669=) single nucleotide variant not provided [RCV003708333] Chr21:46357042 [GRCh38]
Chr21:47776957 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.255C>A (p.Ala85=) single nucleotide variant not provided [RCV003710248] Chr21:46326577 [GRCh38]
Chr21:47746491 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.780G>A (p.Ala260=) single nucleotide variant PCNT-related disorder [RCV004738864]|not provided [RCV003733566] Chr21:46346802 [GRCh38]
Chr21:47766716 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9968-18A>C single nucleotide variant not provided [RCV003853523] Chr21:46445266 [GRCh38]
Chr21:47865179 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1419G>A (p.Gln473=) single nucleotide variant not provided [RCV003684212] Chr21:46351503 [GRCh38]
Chr21:47771417 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.720+15C>T single nucleotide variant not provided [RCV003685351] Chr21:46346223 [GRCh38]
Chr21:47766137 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7913+7C>T single nucleotide variant not provided [RCV003685353] Chr21:46430239 [GRCh38]
Chr21:47850153 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8958C>T (p.Ala2986=) single nucleotide variant PCNT-related disorder [RCV003966731]|not provided [RCV003868757] Chr21:46436110 [GRCh38]
Chr21:47856023 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5679C>G (p.Ala1893=) single nucleotide variant not provided [RCV003869901] Chr21:46411752 [GRCh38]
Chr21:47831666 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7821A>T (p.Arg2607=) single nucleotide variant PCNT-related disorder [RCV003966558]|not provided [RCV003723167] Chr21:46430140 [GRCh38]
Chr21:47850054 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.3(chr21:47809383-47854022)x3 copy number gain not specified [RCV003986153] Chr21:47809383..47854022 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1 copy number loss not specified [RCV003986155] Chr21:43369956..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.5994+11C>T single nucleotide variant not provided [RCV003676103] Chr21:46412078 [GRCh38]
Chr21:47831992 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6273T>C (p.Ala2091=) single nucleotide variant not provided [RCV003552314] Chr21:46416191 [GRCh38]
Chr21:47836105 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8943G>T (p.Arg2981=) single nucleotide variant not provided [RCV003823072] Chr21:46436095 [GRCh38]
Chr21:47856008 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1032+9G>C single nucleotide variant PCNT-related disorder [RCV004738840]|not provided [RCV003710352] Chr21:46347521 [GRCh38]
Chr21:47767435 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9273+15T>C single nucleotide variant not provided [RCV003710419] Chr21:46438352 [GRCh38]
Chr21:47858265 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2661T>A (p.Asp887Glu) single nucleotide variant Inborn genetic diseases [RCV005387234]|not provided [RCV003712139] Chr21:46366635 [GRCh38]
Chr21:47786550 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4446+15T>G single nucleotide variant not provided [RCV003861949] Chr21:46397509 [GRCh38]
Chr21:47817423 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5116-12C>G single nucleotide variant not provided [RCV003845578] Chr21:46411177 [GRCh38]
Chr21:47831091 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7913+9G>T single nucleotide variant not provided [RCV003712414] Chr21:46430241 [GRCh38]
Chr21:47850155 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7992C>G (p.Ala2664=) single nucleotide variant not provided [RCV003867715] Chr21:46430585 [GRCh38]
Chr21:47850499 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8076G>A (p.Ala2692=) single nucleotide variant not provided [RCV003720577] Chr21:46431540 [GRCh38]
Chr21:47851454 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4008C>G (p.Thr1336=) single nucleotide variant not provided [RCV003722166] Chr21:46391168 [GRCh38]
Chr21:47811083 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.144G>T (p.Ala48=) single nucleotide variant not provided [RCV003721595] Chr21:46326466 [GRCh38]
Chr21:47746380 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.603T>C (p.Ser201=) single nucleotide variant not provided [RCV003870083] Chr21:46334732 [GRCh38]
Chr21:47754646 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9701-1G>A single nucleotide variant not provided [RCV003567122] Chr21:46443809 [GRCh38]
Chr21:47863722 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.2076T>C (p.Ile692=) single nucleotide variant not provided [RCV003823380] Chr21:46357113 [GRCh38]
Chr21:47777028 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9273+1G>A single nucleotide variant not provided [RCV003866322] Chr21:46438338 [GRCh38]
Chr21:47858251 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3597C>T (p.Ala1199=) single nucleotide variant not provided [RCV003866408] Chr21:46388874 [GRCh38]
Chr21:47808789 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4356G>A (p.Gly1452=) single nucleotide variant not provided [RCV003868941] Chr21:46397404 [GRCh38]
Chr21:47817318 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4650A>G (p.Lys1550=) single nucleotide variant not provided [RCV003564138] Chr21:46399655 [GRCh38]
Chr21:47819569 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.576A>G (p.Pro192=) single nucleotide variant not provided [RCV003707007] Chr21:46334705 [GRCh38]
Chr21:47754619 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9993C>T (p.His3331=) single nucleotide variant not provided [RCV003685639] Chr21:46445309 [GRCh38]
Chr21:47865222 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3465-16G>T single nucleotide variant not provided [RCV003675283] Chr21:46388726 [GRCh38]
Chr21:47808641 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2976C>G (p.Leu992=) single nucleotide variant not provided [RCV003564127] Chr21:46366950 [GRCh38]
Chr21:47786865 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4585-4T>C single nucleotide variant PCNT-related disorder [RCV004738925]|not provided [RCV003846174] Chr21:46399586 [GRCh38]
Chr21:47819500 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.639+9T>C single nucleotide variant not provided [RCV003858984] Chr21:46334777 [GRCh38]
Chr21:47754691 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4194G>A (p.Thr1398=) single nucleotide variant not provided [RCV003844050] Chr21:46391354 [GRCh38]
Chr21:47811269 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4584+17G>A single nucleotide variant not provided [RCV003821684] Chr21:46398272 [GRCh38]
Chr21:47818186 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9888T>C (p.Ser3296=) single nucleotide variant not provided [RCV003707069] Chr21:46444742 [GRCh38]
Chr21:47864655 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9701-2A>G single nucleotide variant PCNT-related disorder [RCV004738868]|not provided [RCV003732323] Chr21:46443808 [GRCh38]
Chr21:47863721 [GRCh37]
Chr21:21q22.3		 likely pathogenic|uncertain significance
NM_006031.6(PCNT):c.9968-5T>C single nucleotide variant not provided [RCV003555471] Chr21:46445279 [GRCh38]
Chr21:47865192 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4792-16C>A single nucleotide variant not provided [RCV003676578] Chr21:46401535 [GRCh38]
Chr21:47821449 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7461G>T (p.Leu2487=) single nucleotide variant not provided [RCV003865364] Chr21:46427762 [GRCh38]
Chr21:47847676 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5787C>T (p.Leu1929=) single nucleotide variant not provided [RCV003853035] Chr21:46411860 [GRCh38]
Chr21:47831774 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4305G>A (p.Gln1435=) single nucleotide variant not provided [RCV003823790] Chr21:46397353 [GRCh38]
Chr21:47817267 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6225A>G (p.Glu2075=) single nucleotide variant not provided [RCV003708446] Chr21:46416143 [GRCh38]
Chr21:47836057 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2529G>T (p.Pro843=) single nucleotide variant not provided [RCV003708466] Chr21:46363854 [GRCh38]
Chr21:47783769 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.828A>T (p.Ala276=) single nucleotide variant not provided [RCV003847206] Chr21:46346850 [GRCh38]
Chr21:47766764 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6642C>T (p.Ser2214=) single nucleotide variant not provided [RCV003567125] Chr21:46416560 [GRCh38]
Chr21:47836474 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3165+15C>T single nucleotide variant not provided [RCV003823338] Chr21:46367154 [GRCh38]
Chr21:47787069 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3780C>T (p.Phe1260=) single nucleotide variant not provided [RCV003563099] Chr21:46389371 [GRCh38]
Chr21:47809286 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.144G>A (p.Ala48=) single nucleotide variant not provided [RCV003729295] Chr21:46326466 [GRCh38]
Chr21:47746380 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2757C>T (p.Leu919=) single nucleotide variant PCNT-related disorder [RCV004738865]|not provided [RCV003729296] Chr21:46366731 [GRCh38]
Chr21:47786646 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3483C>T (p.Ala1161=) single nucleotide variant not provided [RCV003704813] Chr21:46388760 [GRCh38]
Chr21:47808675 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1284C>A (p.Gly428=) single nucleotide variant not provided [RCV003555483] Chr21:46349760 [GRCh38]
Chr21:47769674 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5172G>T (p.Leu1724=) single nucleotide variant not provided [RCV003705943] Chr21:46411245 [GRCh38]
Chr21:47831159 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4521C>A (p.Arg1507=) single nucleotide variant not provided [RCV003551328] Chr21:46398088 [GRCh38]
Chr21:47818002 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9612T>C (p.Ile3204=) single nucleotide variant not provided [RCV003679452] Chr21:46441073 [GRCh38]
Chr21:47860986 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8739C>T (p.Asp2913=) single nucleotide variant not provided [RCV003568802] Chr21:46432203 [GRCh38]
Chr21:47852117 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9099+7G>A single nucleotide variant not provided [RCV003847712] Chr21:46437088 [GRCh38]
Chr21:47857001 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.640-1G>A single nucleotide variant not provided [RCV003568897] Chr21:46346127 [GRCh38]
Chr21:47766041 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.174_180dup (p.Ser61fs) duplication not provided [RCV003865042] Chr21:46326495..46326496 [GRCh38]
Chr21:47746409..47746410 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.1344+17T>A single nucleotide variant not provided [RCV003563214] Chr21:46349837 [GRCh38]
Chr21:47769751 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7516C>T (p.Leu2506=) single nucleotide variant not provided [RCV003563239] Chr21:46428416 [GRCh38]
Chr21:47848330 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7569G>T (p.Ala2523=) single nucleotide variant not provided [RCV003711571] Chr21:46428469 [GRCh38]
Chr21:47848383 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5514G>T (p.Leu1838=) single nucleotide variant not provided [RCV003711498] Chr21:46411587 [GRCh38]
Chr21:47831501 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.268-17G>T single nucleotide variant not provided [RCV003566005] Chr21:46334380 [GRCh38]
Chr21:47754294 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1936+13C>G single nucleotide variant not provided [RCV003567802] Chr21:46355639 [GRCh38]
Chr21:47775554 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7691-16C>G single nucleotide variant not provided [RCV003862237] Chr21:46429994 [GRCh38]
Chr21:47849908 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9967+19G>A single nucleotide variant not provided [RCV003710134] Chr21:46444840 [GRCh38]
Chr21:47864753 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2475A>G (p.Glu825=) single nucleotide variant not provided [RCV003679647] Chr21:46363800 [GRCh38]
Chr21:47783715 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4656G>A (p.Ser1552=) single nucleotide variant PCNT-related disorder [RCV003981143]|not provided [RCV003823635] Chr21:46399661 [GRCh38]
Chr21:47819575 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7495-14C>T single nucleotide variant not provided [RCV003864132] Chr21:46428381 [GRCh38]
Chr21:47848295 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8997-17C>G single nucleotide variant not provided [RCV003675535] Chr21:46436962 [GRCh38]
Chr21:47856875 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7180-7G>T single nucleotide variant not provided [RCV003711805] Chr21:46425824 [GRCh38]
Chr21:47845738 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2967C>G (p.Ala989=) single nucleotide variant not provided [RCV003551529] Chr21:46366941 [GRCh38]
Chr21:47786856 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6984T>A (p.Pro2328=) single nucleotide variant not provided [RCV003551105] Chr21:46418266 [GRCh38]
Chr21:47838180 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9661del (p.Arg3221fs) deletion not provided [RCV003565749] Chr21:46442534 [GRCh38]
Chr21:47862447 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.1936+14G>A single nucleotide variant not provided [RCV003847783] Chr21:46355640 [GRCh38]
Chr21:47775555 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7024+12A>G single nucleotide variant not provided [RCV003554513] Chr21:46418318 [GRCh38]
Chr21:47838232 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8883C>A (p.Ala2961=) single nucleotide variant not provided [RCV003675740] Chr21:46436035 [GRCh38]
Chr21:47855948 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3312+19T>C single nucleotide variant not provided [RCV003675506] Chr21:46381859 [GRCh38]
Chr21:47801774 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8751+10G>A single nucleotide variant not provided [RCV003729417] Chr21:46432225 [GRCh38]
Chr21:47852139 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1665C>T (p.Asp555=) single nucleotide variant not provided [RCV003706162] Chr21:46353312 [GRCh38]
Chr21:47773226 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7683C>T (p.Arg2561=) single nucleotide variant PCNT-related disorder [RCV003893510]|not provided [RCV003853508] Chr21:46428583 [GRCh38]
Chr21:47848497 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3336A>G (p.Leu1112=) single nucleotide variant not provided [RCV003707594] Chr21:46385855 [GRCh38]
Chr21:47805770 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.477C>T (p.Phe159=) single nucleotide variant not provided [RCV003551126] Chr21:46334606 [GRCh38]
Chr21:47754520 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2737C>T (p.Leu913=) single nucleotide variant not provided [RCV003551142] Chr21:46366711 [GRCh38]
Chr21:47786626 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5457C>T (p.Ala1819=) single nucleotide variant not provided [RCV003567566] Chr21:46411530 [GRCh38]
Chr21:47831444 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1386A>G (p.Gln462=) single nucleotide variant PCNT-related disorder [RCV004738855]|not provided [RCV003730643] Chr21:46351470 [GRCh38]
Chr21:47771384 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4478dup (p.Glu1494fs) duplication not provided [RCV003681311] Chr21:46398044..46398045 [GRCh38]
Chr21:47817958..47817959 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.1113A>G (p.Ser371=) single nucleotide variant not provided [RCV003674518] Chr21:46349092 [GRCh38]
Chr21:47769006 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1033-12_1033-9del deletion not provided [RCV003705167] Chr21:46348997..46349000 [GRCh38]
Chr21:47768911..47768914 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.879C>T (p.Ala293=) single nucleotide variant not provided [RCV003841799] Chr21:46346901 [GRCh38]
Chr21:47766815 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8269C>T (p.Leu2757=) single nucleotide variant PCNT-related disorder [RCV003981166]|not provided [RCV003844786] Chr21:46431733 [GRCh38]
Chr21:47851647 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2653G>T (p.Glu885Ter) single nucleotide variant not provided [RCV003565822] Chr21:46366627 [GRCh38]
Chr21:47786542 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3608-18C>T single nucleotide variant not provided [RCV003862773] Chr21:46389181 [GRCh38]
Chr21:47809096 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7341C>T (p.Pro2447=) single nucleotide variant PCNT-related disorder [RCV004738888]|not provided [RCV003818319] Chr21:46427642 [GRCh38]
Chr21:47847556 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8996+15C>T single nucleotide variant not provided [RCV003674649] Chr21:46436163 [GRCh38]
Chr21:47856076 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5116-17A>G single nucleotide variant not provided [RCV003841871] Chr21:46411172 [GRCh38]
Chr21:47831086 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3126C>T (p.Leu1042=) single nucleotide variant not provided [RCV003706288] Chr21:46367100 [GRCh38]
Chr21:47787015 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4134G>A (p.Glu1378=) single nucleotide variant not provided [RCV003853633] Chr21:46391294 [GRCh38]
Chr21:47811209 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6150+20C>T single nucleotide variant not provided [RCV003843379] Chr21:46413012 [GRCh38]
Chr21:47832926 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1122G>A (p.Glu374=) single nucleotide variant not provided [RCV003822561] Chr21:46349101 [GRCh38]
Chr21:47769015 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7344T>C (p.Asp2448=) single nucleotide variant not provided [RCV003845057] Chr21:46427645 [GRCh38]
Chr21:47847559 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1066T>C (p.Leu356=) single nucleotide variant not provided [RCV003678722] Chr21:46349045 [GRCh38]
Chr21:47768959 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6150+9A>C single nucleotide variant not provided [RCV003709090] Chr21:46413001 [GRCh38]
Chr21:47832915 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.546T>A (p.Arg182=) single nucleotide variant not provided [RCV003732494] Chr21:46334675 [GRCh38]
Chr21:47754589 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3951G>A (p.Lys1317=) single nucleotide variant PCNT-related disorder [RCV003901132]|not provided [RCV003553157] Chr21:46390780 [GRCh38]
Chr21:47810695 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4003+9C>G single nucleotide variant not provided [RCV003709266] Chr21:46390841 [GRCh38]
Chr21:47810756 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1002A>G (p.Ser334=) single nucleotide variant PCNT-related disorder [RCV003981144]|not provided [RCV003824037] Chr21:46347482 [GRCh38]
Chr21:47767396 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.735T>C (p.Leu245=) single nucleotide variant not provided [RCV003864371] Chr21:46346757 [GRCh38]
Chr21:47766671 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2451G>A (p.Gln817=) single nucleotide variant not provided [RCV003681452] Chr21:46363776 [GRCh38]
Chr21:47783691 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4980A>G (p.Glu1660=) single nucleotide variant not provided [RCV003858198] Chr21:46402348 [GRCh38]
Chr21:47822262 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3166-14A>G single nucleotide variant not provided [RCV003843378] Chr21:46381680 [GRCh38]
Chr21:47801595 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3225dup (p.Gln1076fs) duplication not provided [RCV003706437] Chr21:46381751..46381752 [GRCh38]
Chr21:47801666..47801667 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3789C>T (p.Leu1263=) single nucleotide variant not provided [RCV003735778] Chr21:46389380 [GRCh38]
Chr21:47809295 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3345G>A (p.Glu1115=) single nucleotide variant not provided [RCV003822632] Chr21:46385864 [GRCh38]
Chr21:47805779 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8577C>T (p.Cys2859=) single nucleotide variant not provided [RCV003567876] Chr21:46432041 [GRCh38]
Chr21:47851955 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7635G>A (p.Ala2545=) single nucleotide variant PCNT-related disorder [RCV003901319]|not provided [RCV003732756] Chr21:46428535 [GRCh38]
Chr21:47848449 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4773C>T (p.Ile1591=) single nucleotide variant PCNT-related disorder [RCV003966728]|not provided [RCV003860746] Chr21:46399778 [GRCh38]
Chr21:47819692 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9839+17C>T single nucleotide variant not provided [RCV003818398] Chr21:46443965 [GRCh38]
Chr21:47863878 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9967+16G>A single nucleotide variant not provided [RCV003818495] Chr21:46444837 [GRCh38]
Chr21:47864750 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8322G>A (p.Arg2774=) single nucleotide variant not provided [RCV003675948] Chr21:46431786 [GRCh38]
Chr21:47851700 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8752-18T>G single nucleotide variant not provided [RCV003542981] Chr21:46435886 [GRCh38]
Chr21:47855799 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4563+16G>A single nucleotide variant not provided [RCV003840985] Chr21:46398146 [GRCh38]
Chr21:47818060 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6462A>G (p.Thr2154=) single nucleotide variant not provided [RCV003563823] Chr21:46416380 [GRCh38]
Chr21:47836294 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.729T>C (p.His243=) single nucleotide variant not provided [RCV003843436] Chr21:46346751 [GRCh38]
Chr21:47766665 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9624-5dup duplication not provided [RCV003843471] Chr21:46442484..46442485 [GRCh38]
Chr21:47862397..47862398 [GRCh37]
Chr21:21q22.3		 benign
NM_006031.6(PCNT):c.8263C>T (p.Leu2755=) single nucleotide variant not provided [RCV003859671] Chr21:46431727 [GRCh38]
Chr21:47851641 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8064+13C>G single nucleotide variant not provided [RCV003712341] Chr21:46430670 [GRCh38]
Chr21:47850584 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7059G>C (p.Pro2353=) single nucleotide variant not provided [RCV003712350] Chr21:46422004 [GRCh38]
Chr21:47841918 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6309A>G (p.Ala2103=) single nucleotide variant PCNT-related disorder [RCV004738857]|not provided [RCV003730889] Chr21:46416227 [GRCh38]
Chr21:47836141 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3843G>A (p.Leu1281=) single nucleotide variant not provided [RCV003551514] Chr21:46390672 [GRCh38]
Chr21:47810587 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7251C>T (p.Ser2417=) single nucleotide variant PCNT-related disorder [RCV003984419]|not provided [RCV003732783] Chr21:46425902 [GRCh38]
Chr21:47845816 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8997-6T>A single nucleotide variant not provided [RCV003566124] Chr21:46436973 [GRCh38]
Chr21:47856886 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2142C>T (p.Asp714=) single nucleotide variant PCNT-related disorder [RCV004738867]|not provided [RCV003727295] Chr21:46357179 [GRCh38]
Chr21:47777094 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4938A>G (p.Arg1646=) single nucleotide variant PCNT-related disorder [RCV003893334]|not provided [RCV003734201] Chr21:46401697 [GRCh38]
Chr21:47821611 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2036_2037dup (p.Gln680fs) duplication not provided [RCV003565077] Chr21:46357071..46357072 [GRCh38]
Chr21:47776986..47776987 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.6489C>A (p.Ile2163=) single nucleotide variant not provided [RCV003552175] Chr21:46416407 [GRCh38]
Chr21:47836321 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8652G>A (p.Glu2884=) single nucleotide variant not provided [RCV003844746] Chr21:46432116 [GRCh38]
Chr21:47852030 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7986G>A (p.Gly2662=) single nucleotide variant not provided [RCV003822385] Chr21:46430579 [GRCh38]
Chr21:47850493 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9165C>T (p.Leu3055=) single nucleotide variant not provided [RCV003707821] Chr21:46438229 [GRCh38]
Chr21:47858142 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.268-5C>T single nucleotide variant not provided [RCV003846887] Chr21:46334392 [GRCh38]
Chr21:47754306 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5995-8C>T single nucleotide variant not provided [RCV003562661] Chr21:46412829 [GRCh38]
Chr21:47832743 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.976+12C>T single nucleotide variant not provided [RCV003864543] Chr21:46347010 [GRCh38]
Chr21:47766924 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6630G>A (p.Gly2210=) single nucleotide variant not provided [RCV003859942] Chr21:46416548 [GRCh38]
Chr21:47836462 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7140A>G (p.Glu2380=) single nucleotide variant not provided [RCV003735893] Chr21:46422085 [GRCh38]
Chr21:47841999 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4792-6T>C single nucleotide variant not provided [RCV003824343] Chr21:46401545 [GRCh38]
Chr21:47821459 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2010C>G (p.Val670=) single nucleotide variant not provided [RCV003863397] Chr21:46357047 [GRCh38]
Chr21:47776962 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1374C>T (p.Asp458=) single nucleotide variant not provided [RCV003681653] Chr21:46351458 [GRCh38]
Chr21:47771372 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1208-9C>T single nucleotide variant not provided [RCV003857425] Chr21:46349675 [GRCh38]
Chr21:47769589 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9967+18C>A single nucleotide variant not provided [RCV003562764] Chr21:46444839 [GRCh38]
Chr21:47864752 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3312+16_3312+19dup duplication not provided [RCV003820176] Chr21:46381855..46381856 [GRCh38]
Chr21:47801770..47801771 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3582G>T (p.Ala1194=) single nucleotide variant PCNT-related disorder [RCV004738924]|not provided [RCV003843668] Chr21:46388859 [GRCh38]
Chr21:47808774 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4476C>T (p.Arg1492=) single nucleotide variant not provided [RCV003821365] Chr21:46398043 [GRCh38]
Chr21:47817957 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5235C>T (p.Val1745=) single nucleotide variant not provided [RCV003566334] Chr21:46411308 [GRCh38]
Chr21:47831222 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4809G>A (p.Lys1603=) single nucleotide variant not provided [RCV003844850] Chr21:46401568 [GRCh38]
Chr21:47821482 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1173G>A (p.Leu391=) single nucleotide variant PCNT-related disorder [RCV004738929]|not provided [RCV003844898] Chr21:46349152 [GRCh38]
Chr21:47769066 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.537G>C (p.Pro179=) single nucleotide variant not provided [RCV003731219] Chr21:46334666 [GRCh38]
Chr21:47754580 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8633C>G (p.Ser2878Ter) single nucleotide variant not provided [RCV003707900] Chr21:46432097 [GRCh38]
Chr21:47852011 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.5994+15C>A single nucleotide variant not provided [RCV003863162] Chr21:46412082 [GRCh38]
Chr21:47831996 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9330del (p.Arg3110fs) deletion not provided [RCV003551980] Chr21:46440138 [GRCh38]
Chr21:47860051 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.2748G>T (p.Thr916=) single nucleotide variant not provided [RCV003568441] Chr21:46366722 [GRCh38]
Chr21:47786637 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1457-20C>T single nucleotide variant not provided [RCV003675088] Chr21:46353084 [GRCh38]
Chr21:47772998 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7691-19G>C single nucleotide variant not provided [RCV003842514] Chr21:46429991 [GRCh38]
Chr21:47849905 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3978G>A (p.Leu1326=) single nucleotide variant not provided [RCV003683257] Chr21:46390807 [GRCh38]
Chr21:47810722 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.687C>T (p.Gly229=) single nucleotide variant not provided [RCV003679342] Chr21:46346175 [GRCh38]
Chr21:47766089 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1407C>T (p.Arg469=) single nucleotide variant not provided [RCV003731352] Chr21:46351491 [GRCh38]
Chr21:47771405 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5995-16T>C single nucleotide variant not provided [RCV003708059] Chr21:46412821 [GRCh38]
Chr21:47832735 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9701-9C>T single nucleotide variant not provided [RCV003846895] Chr21:46443801 [GRCh38]
Chr21:47863714 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7690+1G>T single nucleotide variant not provided [RCV003566649] Chr21:46428591 [GRCh38]
Chr21:47848505 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.3582G>A (p.Ala1194=) single nucleotide variant not provided [RCV003727534] Chr21:46388859 [GRCh38]
Chr21:47808774 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.362_363del (p.Thr121fs) microsatellite not provided [RCV003841252] Chr21:46334489..46334490 [GRCh38]
Chr21:47754403..47754404 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.7310del (p.Gly2437fs) deletion not provided [RCV003562841] Chr21:46425957 [GRCh38]
Chr21:47845871 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.1761+20G>T single nucleotide variant not provided [RCV003860135] Chr21:46354088 [GRCh38]
Chr21:47774002 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2313A>C (p.Leu771=) single nucleotide variant not provided [RCV003550901] Chr21:46363638 [GRCh38]
Chr21:47783553 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9954A>G (p.Gly3318=) single nucleotide variant not provided [RCV003566643] Chr21:46444808 [GRCh38]
Chr21:47864721 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7614G>A (p.Lys2538=) single nucleotide variant not provided [RCV003822774] Chr21:46428514 [GRCh38]
Chr21:47848428 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6606C>T (p.His2202=) single nucleotide variant not provided [RCV003680471] Chr21:46416524 [GRCh38]
Chr21:47836438 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.395_402del (p.Met132fs) deletion not provided [RCV003552188] Chr21:46334523..46334530 [GRCh38]
Chr21:47754437..47754444 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.2751G>A (p.Ala917=) single nucleotide variant PCNT-related disorder [RCV003929322]|not provided [RCV003731548] Chr21:46366725 [GRCh38]
Chr21:47786640 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3313-8C>T single nucleotide variant not provided [RCV003562896] Chr21:46385824 [GRCh38]
Chr21:47805739 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3312+11T>A single nucleotide variant not provided [RCV003857621] Chr21:46381851 [GRCh38]
Chr21:47801766 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7938C>T (p.Asn2646=) single nucleotide variant not provided [RCV003676740] Chr21:46430531 [GRCh38]
Chr21:47850445 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.721-4G>A single nucleotide variant PCNT-related disorder [RCV003893525]|not provided [RCV003860331] Chr21:46346739 [GRCh38]
Chr21:47766653 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6369A>G (p.Ser2123=) single nucleotide variant not provided [RCV003866620] Chr21:46416287 [GRCh38]
Chr21:47836201 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7965G>A (p.Leu2655=) single nucleotide variant not provided [RCV003866610] Chr21:46430558 [GRCh38]
Chr21:47850472 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9198G>A (p.Lys3066=) single nucleotide variant not provided [RCV003718645] Chr21:46438262 [GRCh38]
Chr21:47858175 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3438C>T (p.Ala1146=) single nucleotide variant PCNT-related disorder [RCV004738794]|not provided [RCV003556853] Chr21:46385957 [GRCh38]
Chr21:47805872 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3372G>A (p.Glu1124=) single nucleotide variant not provided [RCV003567390] Chr21:46385891 [GRCh38]
Chr21:47805806 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9972T>C (p.Ser3324=) single nucleotide variant not provided [RCV003553758] Chr21:46445288 [GRCh38]
Chr21:47865201 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8065-19G>T single nucleotide variant not provided [RCV003709810] Chr21:46431510 [GRCh38]
Chr21:47851424 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4185C>G (p.Ala1395=) single nucleotide variant not provided [RCV003568321] Chr21:46391345 [GRCh38]
Chr21:47811260 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1803C>T (p.His601=) single nucleotide variant not provided [RCV003857634] Chr21:46355493 [GRCh38]
Chr21:47775408 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.977-4G>C single nucleotide variant not provided [RCV003542076] Chr21:46347453 [GRCh38]
Chr21:47767367 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2670G>T (p.Leu890=) single nucleotide variant PCNT-related disorder [RCV003901247]|not provided [RCV003676560] Chr21:46366644 [GRCh38]
Chr21:47786559 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9789T>G (p.Pro3263=) single nucleotide variant not provided [RCV003676555] Chr21:46443898 [GRCh38]
Chr21:47863811 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8787T>G (p.His2929Gln) single nucleotide variant PCNT-related disorder [RCV003969782] Chr21:46435939 [GRCh38]
Chr21:47855852 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5377G>C (p.Glu1793Gln) single nucleotide variant PCNT-related disorder [RCV003977022] Chr21:46411450 [GRCh38]
Chr21:47831364 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3747G>A (p.Val1249=) single nucleotide variant not provided [RCV003885174] Chr21:46389338 [GRCh38]
Chr21:47809253 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.3(chr21:45726806-48093361)x1 copy number loss not provided [RCV004442739] Chr21:45726806..48093361 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4521C>T (p.Arg1507=) single nucleotide variant PCNT-related disorder [RCV003904324] Chr21:46398088 [GRCh38]
Chr21:47818002 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7873C>T (p.Arg2625Trp) single nucleotide variant PCNT-related disorder [RCV003899789] Chr21:46430192 [GRCh38]
Chr21:47850106 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1364C>T (p.Ser455Leu) single nucleotide variant PCNT-related disorder [RCV003894476] Chr21:46351448 [GRCh38]
Chr21:47771362 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.29G>C (p.Arg10Thr) single nucleotide variant PCNT-related disorder [RCV003983476] Chr21:46324257 [GRCh38]
Chr21:47744171 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1367A>G (p.Tyr456Cys) single nucleotide variant PCNT-related disorder [RCV003961619] Chr21:46351451 [GRCh38]
Chr21:47771365 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.689G>A (p.Arg230His) single nucleotide variant PCNT-related disorder [RCV003927097] Chr21:46346177 [GRCh38]
Chr21:47766091 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4948C>T (p.Arg1650Trp) single nucleotide variant PCNT-related disorder [RCV003959528]|not provided [RCV005102965] Chr21:46401707 [GRCh38]
Chr21:47821621 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.108A>G (p.Lys36=) single nucleotide variant PCNT-related disorder [RCV003934663] Chr21:46326430 [GRCh38]
Chr21:47746344 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7064C>T (p.Ser2355Leu) single nucleotide variant PCNT-related disorder [RCV003977024] Chr21:46422009 [GRCh38]
Chr21:47841923 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4167G>C (p.Leu1389=) single nucleotide variant PCNT-related disorder [RCV003901569] Chr21:46391327 [GRCh38]
Chr21:47811242 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1164_1165del (p.Arg388fs) microsatellite Microcephalic osteodysplastic primordial dwarfism type II [RCV003993700] Chr21:46349139..46349140 [GRCh38]
Chr21:47769053..47769054 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.5848C>T (p.Arg1950Trp) single nucleotide variant Inborn genetic diseases [RCV004369807]|PCNT-related disorder [RCV003936957] Chr21:46411921 [GRCh38]
Chr21:47831835 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4463G>A (p.Arg1488Gln) single nucleotide variant PCNT-related disorder [RCV003896517] Chr21:46398030 [GRCh38]
Chr21:47817944 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1942C>T (p.Pro648Ser) single nucleotide variant PCNT-related disorder [RCV003921472] Chr21:46356979 [GRCh38]
Chr21:47776894 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9693T>C (p.Pro3231=) single nucleotide variant PCNT-related disorder [RCV003983601] Chr21:46442566 [GRCh38]
Chr21:47862479 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3669T>G (p.Ser1223=) single nucleotide variant PCNT-related disorder [RCV003962323] Chr21:46389260 [GRCh38]
Chr21:47809175 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5829C>T (p.Cys1943=) single nucleotide variant PCNT-related disorder [RCV003959236] Chr21:46411902 [GRCh38]
Chr21:47831816 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8809A>T (p.Thr2937Ser) single nucleotide variant PCNT-related disorder [RCV003902087] Chr21:46435961 [GRCh38]
Chr21:47855874 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.391G>C (p.Gly131Arg) single nucleotide variant PCNT-related disorder [RCV003902146] Chr21:46334520 [GRCh38]
Chr21:47754434 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7682G>A (p.Arg2561His) single nucleotide variant PCNT-related disorder [RCV003922057]|not provided [RCV004723540] Chr21:46428582 [GRCh38]
Chr21:47848496 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5920G>T (p.Ala1974Ser) single nucleotide variant PCNT-related disorder [RCV003964764] Chr21:46411993 [GRCh38]
Chr21:47831907 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6150+11_6150+130del deletion PCNT-related disorder [RCV003962302] Chr21:46412988..46413107 [GRCh38]
Chr21:47832902..47833021 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7913+5G>A single nucleotide variant PCNT-related disorder [RCV003909502] Chr21:46430237 [GRCh38]
Chr21:47850151 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3109G>A (p.Glu1037Lys) single nucleotide variant PCNT-related disorder [RCV003966845]|not provided [RCV005103013] Chr21:46367083 [GRCh38]
Chr21:47786998 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7503G>A (p.Leu2501=) single nucleotide variant PCNT-related disorder [RCV003969737] Chr21:46428403 [GRCh38]
Chr21:47848317 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7689G>C (p.Gln2563His) single nucleotide variant PCNT-related disorder [RCV003896462] Chr21:46428589 [GRCh38]
Chr21:47848503 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7529G>A (p.Arg2510His) single nucleotide variant PCNT-related disorder [RCV003954851] Chr21:46428429 [GRCh38]
Chr21:47848343 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6103C>T (p.Leu2035Phe) single nucleotide variant PCNT-related disorder [RCV003899169] Chr21:46412945 [GRCh38]
Chr21:47832859 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3801G>C (p.Val1267=) single nucleotide variant PCNT-related disorder [RCV003912309] Chr21:46389392 [GRCh38]
Chr21:47809307 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6278A>G (p.Asp2093Gly) single nucleotide variant PCNT-related disorder [RCV003899729] Chr21:46416196 [GRCh38]
Chr21:47836110 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8752-24_8752-8del deletion PCNT-related disorder [RCV003907086] Chr21:46435880..46435896 [GRCh38]
Chr21:47855793..47855809 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6150+11_6150+190del deletion PCNT-related disorder [RCV003934462] Chr21:46412988..46413167 [GRCh38]
Chr21:47832902..47833081 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.55-4G>T single nucleotide variant PCNT-related disorder [RCV003904699] Chr21:46326373 [GRCh38]
Chr21:47746287 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9752C>G (p.Pro3251Arg) single nucleotide variant PCNT-related disorder [RCV003981560] Chr21:46443861 [GRCh38]
Chr21:47863774 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5074G>C (p.Val1692Leu) single nucleotide variant PCNT-related disorder [RCV003947190] Chr21:46402442 [GRCh38]
Chr21:47822356 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7066G>C (p.Gly2356Arg) single nucleotide variant not provided [RCV003887501] Chr21:46422011 [GRCh38]
Chr21:47841925 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4155G>T (p.Glu1385Asp) single nucleotide variant PCNT-related disorder [RCV003894148] Chr21:46391315 [GRCh38]
Chr21:47811230 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4072G>A (p.Glu1358Lys) single nucleotide variant PCNT-related disorder [RCV003894350] Chr21:46391232 [GRCh38]
Chr21:47811147 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6034C>G (p.Pro2012Ala) single nucleotide variant PCNT-related disorder [RCV003967008] Chr21:46412876 [GRCh38]
Chr21:47832790 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7752G>A (p.Thr2584=) single nucleotide variant PCNT-related disorder [RCV003902047] Chr21:46430071 [GRCh38]
Chr21:47849985 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1679+4A>G single nucleotide variant PCNT-related disorder [RCV003902083] Chr21:46353330 [GRCh38]
Chr21:47773244 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7952C>T (p.Ala2651Val) single nucleotide variant PCNT-related disorder [RCV003902107] Chr21:46430545 [GRCh38]
Chr21:47850459 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.444_445insGGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTC (p.Val148_Ser149insGlyAspHisProProGluGlnHisGlyMetPheThrVal) insertion PCNT-related disorder [RCV003951778] Chr21:46334557..46334558 [GRCh38]
Chr21:47754471..47754472 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.228C>T (p.Asp76=) single nucleotide variant PCNT-related disorder [RCV003896546] Chr21:46326550 [GRCh38]
Chr21:47746464 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.615A>G (p.Ala205=) single nucleotide variant not provided [RCV003885622] Chr21:46334744 [GRCh38]
Chr21:47754658 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.*8G>A single nucleotide variant PCNT-related disorder [RCV003909614] Chr21:46445335 [GRCh38]
Chr21:47865248 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7585C>T (p.Arg2529Cys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV003990753] Chr21:46428485 [GRCh38]
Chr21:47848399 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9940C>T (p.Gln3314Ter) single nucleotide variant PCNT-related disorder [RCV003969017] Chr21:46444794 [GRCh38]
Chr21:47864707 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7871C>G (p.Ser2624Cys) single nucleotide variant PCNT-related disorder [RCV003969165] Chr21:46430190 [GRCh38]
Chr21:47850104 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2063T>C (p.Leu688Pro) single nucleotide variant Inborn genetic diseases [RCV004500783] Chr21:46357100 [GRCh38]
Chr21:47777015 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3691G>A (p.Val1231Met) single nucleotide variant Inborn genetic diseases [RCV004500789] Chr21:46389282 [GRCh38]
Chr21:47809197 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.584G>A (p.Arg195His) single nucleotide variant Inborn genetic diseases [RCV004500797] Chr21:46334713 [GRCh38]
Chr21:47754627 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9233A>G (p.Lys3078Arg) single nucleotide variant Inborn genetic diseases [RCV004500812] Chr21:46438297 [GRCh38]
Chr21:47858210 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7559A>C (p.Glu2520Ala) single nucleotide variant Inborn genetic diseases [RCV004500803] Chr21:46428459 [GRCh38]
Chr21:47848373 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.931G>T (p.Ala311Ser) single nucleotide variant Inborn genetic diseases [RCV004500813]|PCNT-related disorder [RCV004738969] Chr21:46346953 [GRCh38]
Chr21:47766867 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1825G>A (p.Glu609Lys) single nucleotide variant Inborn genetic diseases [RCV004500782] Chr21:46355515 [GRCh38]
Chr21:47775430 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3188A>T (p.Lys1063Ile) single nucleotide variant Inborn genetic diseases [RCV004500786] Chr21:46381716 [GRCh38]
Chr21:47801631 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5891C>T (p.Ala1964Val) single nucleotide variant Inborn genetic diseases [RCV004500798]|PCNT-related disorder [RCV004738968] Chr21:46411964 [GRCh38]
Chr21:47831878 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7333G>A (p.Ala2445Thr) single nucleotide variant Inborn genetic diseases [RCV004500801] Chr21:46427634 [GRCh38]
Chr21:47847548 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7G>A (p.Val3Ile) single nucleotide variant Inborn genetic diseases [RCV004500805] Chr21:46324235 [GRCh38]
Chr21:47744149 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3 copy number gain not provided [RCV004577449] Chr21:15380398..48100790 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_006031.6(PCNT):c.2519G>C (p.Gly840Ala) single nucleotide variant Inborn genetic diseases [RCV004500784] Chr21:46363844 [GRCh38]
Chr21:47783759 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3179G>T (p.Ser1060Ile) single nucleotide variant Inborn genetic diseases [RCV004500785] Chr21:46381707 [GRCh38]
Chr21:47801622 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3200A>G (p.His1067Arg) single nucleotide variant Inborn genetic diseases [RCV004500787] Chr21:46381728 [GRCh38]
Chr21:47801643 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4162C>T (p.Arg1388Cys) single nucleotide variant Inborn genetic diseases [RCV004500791]|PCNT-related disorder [RCV004738967] Chr21:46391322 [GRCh38]
Chr21:47811237 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5008G>C (p.Glu1670Gln) single nucleotide variant Inborn genetic diseases [RCV004500792] Chr21:46402376 [GRCh38]
Chr21:47822290 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5811C>G (p.His1937Gln) single nucleotide variant Inborn genetic diseases [RCV004500795] Chr21:46411884 [GRCh38]
Chr21:47831798 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9179G>C (p.Ser3060Thr) single nucleotide variant Inborn genetic diseases [RCV004500811] Chr21:46438243 [GRCh38]
Chr21:47858156 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3362C>A (p.Ser1121Tyr) single nucleotide variant Inborn genetic diseases [RCV004500788] Chr21:46385881 [GRCh38]
Chr21:47805796 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3868C>T (p.Arg1290Cys) single nucleotide variant Inborn genetic diseases [RCV004500790]|PCNT-related disorder [RCV004738966] Chr21:46390697 [GRCh38]
Chr21:47810612 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5330G>T (p.Cys1777Phe) single nucleotide variant Inborn genetic diseases [RCV004500793] Chr21:46411403 [GRCh38]
Chr21:47831317 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5779G>A (p.Ala1927Thr) single nucleotide variant Inborn genetic diseases [RCV004500794] Chr21:46411852 [GRCh38]
Chr21:47831766 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7507G>A (p.Glu2503Lys) single nucleotide variant Inborn genetic diseases [RCV004500802] Chr21:46428407 [GRCh38]
Chr21:47848321 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9340C>T (p.Pro3114Ser) single nucleotide variant Inborn genetic diseases [RCV004500814] Chr21:46440149 [GRCh38]
Chr21:47860062 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_47831083)_(47832926_?)del deletion not provided [RCV004579361] Chr21:47831083..47832926 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_47841864)_(47865240_?)del deletion not provided [RCV004579362] Chr21:47841864..47865240 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.4952G>A (p.Arg1651His) single nucleotide variant Inborn genetic diseases [RCV004659583] Chr21:46401711 [GRCh38]
Chr21:47821625 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4520G>A (p.Arg1507His) single nucleotide variant Inborn genetic diseases [RCV004659586] Chr21:46398087 [GRCh38]
Chr21:47818001 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7661G>A (p.Ser2554Asn) single nucleotide variant Inborn genetic diseases [RCV004659590] Chr21:46428561 [GRCh38]
Chr21:47848475 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2093A>G (p.Glu698Gly) single nucleotide variant Inborn genetic diseases [RCV004653405] Chr21:46357130 [GRCh38]
Chr21:47777045 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9646T>C (p.Trp3216Arg) single nucleotide variant Inborn genetic diseases [RCV004653406] Chr21:46442519 [GRCh38]
Chr21:47862432 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5555T>C (p.Met1852Thr) single nucleotide variant Inborn genetic diseases [RCV004653407] Chr21:46411628 [GRCh38]
Chr21:47831542 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3650A>C (p.Glu1217Ala) single nucleotide variant Inborn genetic diseases [RCV004653408] Chr21:46389241 [GRCh38]
Chr21:47809156 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3745G>T (p.Val1249Leu) single nucleotide variant Inborn genetic diseases [RCV004653409] Chr21:46389336 [GRCh38]
Chr21:47809251 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_47831918)_(47849884_?)del deletion not provided [RCV004579366] Chr21:47831918..47849884 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NC_000021.8:g.(?_45647421)_(47865240_?)dup duplication not provided [RCV004579369] Chr21:45647421..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3380A>G (p.Gln1127Arg) single nucleotide variant Inborn genetic diseases [RCV004659587] Chr21:46385899 [GRCh38]
Chr21:47805814 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9215C>T (p.Ala3072Val) single nucleotide variant Inborn genetic diseases [RCV004659588] Chr21:46438279 [GRCh38]
Chr21:47858192 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_47744143)_(47865240_?)del deletion not provided [RCV004579355] Chr21:47744143..47865240 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_47744143)_(47744216_?)del deletion not provided [RCV004579356] Chr21:47744143..47744216 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_47838098)_(47838240_?)del deletion not provided [RCV004579357] Chr21:47838098..47838240 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_47744143)_(47805918_?)del deletion not provided [RCV004579358] Chr21:47744143..47805918 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_47744143)_(47754702_?)del deletion not provided [RCV004579359] Chr21:47744143..47754702 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_47848289)_(47861017_?)del deletion not provided [RCV004579363] Chr21:47848289..47861017 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_47808637)_(47822417_?)dup duplication not provided [RCV004579364] Chr21:47808637..47822417 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NC_000021.8:g.(?_47801713)_(47806749_?)del deletion not provided [RCV004579365] Chr21:47801713..47806749 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NC_000021.8:g.(?_47831936)_(47864564_?)del deletion not provided [RCV004579367] Chr21:47831936..47864564 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NC_000021.8:g.(?_44296792)_(47865240_?)del deletion not provided [RCV004579375] Chr21:44296792..47865240 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.4771A>G (p.Ile1591Val) single nucleotide variant Inborn genetic diseases [RCV004659585] Chr21:46399776 [GRCh38]
Chr21:47819690 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5332T>C (p.Ser1778Pro) single nucleotide variant Inborn genetic diseases [RCV004659589] Chr21:46411405 [GRCh38]
Chr21:47831319 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1285C>T (p.Arg429Trp) single nucleotide variant Inborn genetic diseases [RCV004653399] Chr21:46349761 [GRCh38]
Chr21:47769675 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6913A>T (p.Thr2305Ser) single nucleotide variant Inborn genetic diseases [RCV004653400]|PCNT-related disorder [RCV004738976] Chr21:46416831 [GRCh38]
Chr21:47836745 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6028G>A (p.Asp2010Asn) single nucleotide variant Inborn genetic diseases [RCV004653401] Chr21:46412870 [GRCh38]
Chr21:47832784 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3869G>A (p.Arg1290His) single nucleotide variant Inborn genetic diseases [RCV004653402] Chr21:46390698 [GRCh38]
Chr21:47810613 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4894A>G (p.Ser1632Gly) single nucleotide variant Inborn genetic diseases [RCV004653403] Chr21:46401653 [GRCh38]
Chr21:47821567 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7956T>C (p.Leu2652=) single nucleotide variant not provided [RCV004599079] Chr21:46430549 [GRCh38]
Chr21:47850463 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8828C>T (p.Ser2943Leu) single nucleotide variant Inborn genetic diseases [RCV004659582] Chr21:46435980 [GRCh38]
Chr21:47855893 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9751C>A (p.Pro3251Thr) single nucleotide variant PCNT-related disorder [RCV004739757] Chr21:46443860 [GRCh38]
Chr21:47863773 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.783G>T (p.Gln261His) single nucleotide variant PCNT-related disorder [RCV004739851] Chr21:46346805 [GRCh38]
Chr21:47766719 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8681G>C (p.Ser2894Thr) single nucleotide variant PCNT-related disorder [RCV004739781] Chr21:46432145 [GRCh38]
Chr21:47852059 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3614C>T (p.Ala1205Val) single nucleotide variant PCNT-related disorder [RCV004739779] Chr21:46389205 [GRCh38]
Chr21:47809120 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3790A>C (p.Ser1264Arg) single nucleotide variant PCNT-related disorder [RCV004739771] Chr21:46389381 [GRCh38]
Chr21:47809296 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5752G>A (p.Glu1918Lys) single nucleotide variant PCNT-related disorder [RCV004740024]|not provided [RCV005059850] Chr21:46411825 [GRCh38]
Chr21:47831739 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4540C>A (p.Pro1514Thr) single nucleotide variant PCNT-related disorder [RCV004740040] Chr21:46398107 [GRCh38]
Chr21:47818021 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4976A>G (p.Lys1659Arg) single nucleotide variant PCNT-related disorder [RCV004740044] Chr21:46402344 [GRCh38]
Chr21:47822258 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4553G>A (p.Arg1518His) single nucleotide variant PCNT-related disorder [RCV004739987] Chr21:46398120 [GRCh38]
Chr21:47818034 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3798C>G (p.Ala1266=) single nucleotide variant PCNT-related disorder [RCV004740012] Chr21:46389389 [GRCh38]
Chr21:47809304 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7983G>A (p.Lys2661=) single nucleotide variant PCNT-related disorder [RCV004740047]|not provided [RCV005103812] Chr21:46430576 [GRCh38]
Chr21:47850490 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7179+3A>G single nucleotide variant PCNT-related disorder [RCV004740058] Chr21:46422127 [GRCh38]
Chr21:47842041 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8777G>A (p.Arg2926His) single nucleotide variant PCNT-related disorder [RCV004740059] Chr21:46435929 [GRCh38]
Chr21:47855842 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3091C>T (p.Arg1031Trp) single nucleotide variant PCNT-related disorder [RCV004740120] Chr21:46367065 [GRCh38]
Chr21:47786980 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9975T>C (p.Thr3325=) single nucleotide variant PCNT-related disorder [RCV004740087] Chr21:46445291 [GRCh38]
Chr21:47865204 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7475AGA[1] (p.Lys2493del) microsatellite PCNT-related disorder [RCV004740067] Chr21:46427776..46427778 [GRCh38]
Chr21:47847690..47847692 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1906C>T (p.Arg636Cys) single nucleotide variant PCNT-related disorder [RCV004740199] Chr21:46355596 [GRCh38]
Chr21:47775511 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9107T>A (p.Met3036Lys) single nucleotide variant Inborn genetic diseases [RCV004953732]|PCNT-related disorder [RCV004740209] Chr21:46438171 [GRCh38]
Chr21:47858084 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7507G>T (p.Glu2503Ter) single nucleotide variant PCNT-related disorder [RCV004724417] Chr21:46428407 [GRCh38]
Chr21:47848321 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.7100C>A (p.Thr2367Asn) single nucleotide variant PCNT-related disorder [RCV004724495] Chr21:46422045 [GRCh38]
Chr21:47841959 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2053C>A (p.Gln685Lys) single nucleotide variant PCNT-related disorder [RCV004740715] Chr21:46357090 [GRCh38]
Chr21:47777005 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9645A>G (p.Lys3215=) single nucleotide variant PCNT-related disorder [RCV004739062] Chr21:46442518 [GRCh38]
Chr21:47862431 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7931A>G (p.Lys2644Arg) single nucleotide variant PCNT-related disorder [RCV004739130] Chr21:46430524 [GRCh38]
Chr21:47850438 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6688C>T (p.Leu2230Phe) single nucleotide variant PCNT-related disorder [RCV004739161] Chr21:46416606 [GRCh38]
Chr21:47836520 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3192del (p.Ala1065fs) deletion PCNT-related disorder [RCV004739119] Chr21:46381720 [GRCh38]
Chr21:47801635 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.6830T>G (p.Leu2277Arg) single nucleotide variant PCNT-related disorder [RCV004739120] Chr21:46416748 [GRCh38]
Chr21:47836662 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6004C>A (p.Gln2002Lys) single nucleotide variant PCNT-related disorder [RCV004739243] Chr21:46412846 [GRCh38]
Chr21:47832760 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8096C>G (p.Ala2699Gly) single nucleotide variant PCNT-related disorder [RCV004739760] Chr21:46431560 [GRCh38]
Chr21:47851474 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.946G>A (p.Glu316Lys) single nucleotide variant PCNT-related disorder [RCV004739816] Chr21:46346968 [GRCh38]
Chr21:47766882 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9883G>A (p.Ala3295Thr) single nucleotide variant PCNT-related disorder [RCV004727862] Chr21:46444737 [GRCh38]
Chr21:47864650 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1942C>G (p.Pro648Ala) single nucleotide variant PCNT-related disorder [RCV004728463] Chr21:46356979 [GRCh38]
Chr21:47776894 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1212C>T (p.Ala404=) single nucleotide variant PCNT-related disorder [RCV004728490] Chr21:46349688 [GRCh38]
Chr21:47769602 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2747C>A (p.Thr916Lys) single nucleotide variant PCNT-related disorder [RCV004728578] Chr21:46366721 [GRCh38]
Chr21:47786636 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2292G>A (p.Glu764=) single nucleotide variant PCNT-related disorder [RCV004728513] Chr21:46363617 [GRCh38]
Chr21:47783532 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2516G>A (p.Cys839Tyr) single nucleotide variant PCNT-related disorder [RCV004740738] Chr21:46363841 [GRCh38]
Chr21:47783756 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.977-7C>G single nucleotide variant PCNT-related disorder [RCV004740773] Chr21:46347450 [GRCh38]
Chr21:47767364 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5150T>C (p.Leu1717Pro) single nucleotide variant PCNT-related disorder [RCV004740831] Chr21:46411223 [GRCh38]
Chr21:47831137 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7602G>A (p.Gln2534=) single nucleotide variant PCNT-related disorder [RCV004740786] Chr21:46428502 [GRCh38]
Chr21:47848416 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.95C>T (p.Ser32Leu) single nucleotide variant PCNT-related disorder [RCV004740855] Chr21:46326417 [GRCh38]
Chr21:47746331 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6299T>C (p.Met2100Thr) single nucleotide variant PCNT-related disorder [RCV004740871] Chr21:46416217 [GRCh38]
Chr21:47836131 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3446A>G (p.Asn1149Ser) single nucleotide variant PCNT-related disorder [RCV004740880] Chr21:46385965 [GRCh38]
Chr21:47805880 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7166C>T (p.Pro2389Leu) single nucleotide variant PCNT-related disorder [RCV004740982] Chr21:46422111 [GRCh38]
Chr21:47842025 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7631C>T (p.Thr2544Met) single nucleotide variant PCNT-related disorder [RCV004740990] Chr21:46428531 [GRCh38]
Chr21:47848445 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8565A>G (p.Arg2855=) single nucleotide variant PCNT-related disorder [RCV004740931] Chr21:46432029 [GRCh38]
Chr21:47851943 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4115T>C (p.Leu1372Pro) single nucleotide variant PCNT-related disorder [RCV004740996] Chr21:46391275 [GRCh38]
Chr21:47811190 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3556C>T (p.Arg1186Cys) single nucleotide variant PCNT-related disorder [RCV004739783] Chr21:46388833 [GRCh38]
Chr21:47808748 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.902A>G (p.His301Arg) single nucleotide variant PCNT-related disorder [RCV004739900] Chr21:46346924 [GRCh38]
Chr21:47766838 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9572G>T (p.Arg3191Leu) single nucleotide variant Inborn genetic diseases [RCV004953728]|PCNT-related disorder [RCV004739969] Chr21:46441033 [GRCh38]
Chr21:47860946 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.607C>T (p.His203Tyr) single nucleotide variant PCNT-related disorder [RCV004739980] Chr21:46334736 [GRCh38]
Chr21:47754650 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4614A>C (p.Glu1538Asp) single nucleotide variant PCNT-related disorder [RCV004739983] Chr21:46399619 [GRCh38]
Chr21:47819533 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7474G>C (p.Glu2492Gln) single nucleotide variant PCNT-related disorder [RCV004739966] Chr21:46427775 [GRCh38]
Chr21:47847689 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5995G>A (p.Gly1999Ser) single nucleotide variant PCNT-related disorder [RCV004739982] Chr21:46412837 [GRCh38]
Chr21:47832751 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6834T>C (p.Cys2278=) single nucleotide variant PCNT-related disorder [RCV004740004] Chr21:46416752 [GRCh38]
Chr21:47836666 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2849A>C (p.Gln950Pro) single nucleotide variant PCNT-related disorder [RCV004740073] Chr21:46366823 [GRCh38]
Chr21:47786738 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8663G>A (p.Arg2888His) single nucleotide variant PCNT-related disorder [RCV004740112]|not provided [RCV005103825] Chr21:46432127 [GRCh38]
Chr21:47852041 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9746C>A (p.Ser3249Tyr) single nucleotide variant PCNT-related disorder [RCV004740095] Chr21:46443855 [GRCh38]
Chr21:47863768 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2381C>G (p.Ala794Gly) single nucleotide variant PCNT-related disorder [RCV004740100] Chr21:46363706 [GRCh38]
Chr21:47783621 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8506G>A (p.Glu2836Lys) single nucleotide variant PCNT-related disorder [RCV004740214] Chr21:46431970 [GRCh38]
Chr21:47851884 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2099G>C (p.Arg700Thr) single nucleotide variant PCNT-related disorder [RCV004724478] Chr21:46357136 [GRCh38]
Chr21:47777051 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7695A>G (p.Glu2565=) single nucleotide variant PCNT-related disorder [RCV004740207] Chr21:46430014 [GRCh38]
Chr21:47849928 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2624G>A (p.Arg875His) single nucleotide variant PCNT-related disorder [RCV004740741] Chr21:46366598 [GRCh38]
Chr21:47786513 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1901A>G (p.Glu634Gly) single nucleotide variant PCNT-related disorder [RCV004740753] Chr21:46355591 [GRCh38]
Chr21:47775506 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.781C>G (p.Gln261Glu) single nucleotide variant PCNT-related disorder [RCV004740829] Chr21:46346803 [GRCh38]
Chr21:47766717 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3799G>A (p.Val1267Met) single nucleotide variant PCNT-related disorder [RCV004740926] Chr21:46389390 [GRCh38]
Chr21:47809305 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5132G>A (p.Ser1711Asn) single nucleotide variant PCNT-related disorder [RCV004740838] Chr21:46411205 [GRCh38]
Chr21:47831119 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2002G>T (p.Ala668Ser) single nucleotide variant PCNT-related disorder [RCV004740956] Chr21:46357039 [GRCh38]
Chr21:47776954 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5254G>A (p.Glu1752Lys) single nucleotide variant PCNT-related disorder [RCV004740962] Chr21:46411327 [GRCh38]
Chr21:47831241 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6774A>G (p.Thr2258=) single nucleotide variant PCNT-related disorder [RCV004740874] Chr21:46416692 [GRCh38]
Chr21:47836606 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.581A>C (p.Gln194Pro) single nucleotide variant PCNT-related disorder [RCV004741000] Chr21:46334710 [GRCh38]
Chr21:47754624 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3145G>A (p.Glu1049Lys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005023697]|PCNT-related disorder [RCV004741006] Chr21:46367119 [GRCh38]
Chr21:47787034 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.935G>A (p.Arg312Gln) single nucleotide variant PCNT-related disorder [RCV004741012] Chr21:46346957 [GRCh38]
Chr21:47766871 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2271G>A (p.Glu757=) single nucleotide variant PCNT-related disorder [RCV004739022] Chr21:46363596 [GRCh38]
Chr21:47783511 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9863G>C (p.Arg3288Thr) single nucleotide variant PCNT-related disorder [RCV004739090] Chr21:46444717 [GRCh38]
Chr21:47864630 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.394A>T (p.Met132Leu) single nucleotide variant PCNT-related disorder [RCV004739116] Chr21:46334523 [GRCh38]
Chr21:47754437 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2610-3C>T single nucleotide variant PCNT-related disorder [RCV004739067] Chr21:46366581 [GRCh38]
Chr21:47786496 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2242A>G (p.Lys748Glu) single nucleotide variant PCNT-related disorder [RCV004739207] Chr21:46363567 [GRCh38]
Chr21:47783482 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2473G>C (p.Glu825Gln) single nucleotide variant PCNT-related disorder [RCV004726478] Chr21:46363798 [GRCh38]
Chr21:47783713 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.139_150del (p.Asp47_Val50del) deletion PCNT-related disorder [RCV004739264] Chr21:46326456..46326467 [GRCh38]
Chr21:47746370..47746381 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7628G>A (p.Arg2543His) single nucleotide variant PCNT-related disorder [RCV004739268] Chr21:46428528 [GRCh38]
Chr21:47848442 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3291_3292dup (p.Lys1098fs) duplication PCNT-related disorder [RCV004739269] Chr21:46381817..46381818 [GRCh38]
Chr21:47801732..47801733 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.706C>G (p.Leu236Val) single nucleotide variant PCNT-related disorder [RCV004739227] Chr21:46346194 [GRCh38]
Chr21:47766108 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7159G>T (p.Val2387Leu) single nucleotide variant PCNT-related disorder [RCV004739855] Chr21:46422104 [GRCh38]
Chr21:47842018 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.367_405del (p.Ser123_Val135del) deletion PCNT-related disorder [RCV004739881] Chr21:46334480..46334518 [GRCh38]
Chr21:47754394..47754432 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3070G>A (p.Glu1024Lys) single nucleotide variant PCNT-related disorder [RCV004739908] Chr21:46367044 [GRCh38]
Chr21:47786959 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5205A>G (p.Lys1735=) single nucleotide variant PCNT-related disorder [RCV004739865] Chr21:46411278 [GRCh38]
Chr21:47831192 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2179C>T (p.His727Tyr) single nucleotide variant PCNT-related disorder [RCV004739968] Chr21:46363504 [GRCh38]
Chr21:47783419 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3439G>A (p.Asp1147Asn) single nucleotide variant PCNT-related disorder [RCV004739990] Chr21:46385958 [GRCh38]
Chr21:47805873 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.429T>A (p.Arg143=) single nucleotide variant PCNT-related disorder [RCV004740030] Chr21:46334558 [GRCh38]
Chr21:47754472 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9161C>A (p.Ser3054Tyr) single nucleotide variant PCNT-related disorder [RCV004740070] Chr21:46438225 [GRCh38]
Chr21:47858138 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.976+6G>A single nucleotide variant PCNT-related disorder [RCV004740075] Chr21:46347004 [GRCh38]
Chr21:47766918 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.432G>C (p.Gly144=) single nucleotide variant PCNT-related disorder [RCV004740094] Chr21:46334561 [GRCh38]
Chr21:47754475 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8040G>A (p.Glu2680=) single nucleotide variant PCNT-related disorder [RCV004740115] Chr21:46430633 [GRCh38]
Chr21:47850547 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4696C>T (p.Arg1566Cys) single nucleotide variant PCNT-related disorder [RCV004740178] Chr21:46399701 [GRCh38]
Chr21:47819615 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1520G>A (p.Arg507Gln) single nucleotide variant PCNT-related disorder [RCV004740148] Chr21:46353167 [GRCh38]
Chr21:47773081 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1937-8C>A single nucleotide variant PCNT-related disorder [RCV004740149] Chr21:46356966 [GRCh38]
Chr21:47776881 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5994+6del deletion PCNT-related disorder [RCV004740158] Chr21:46412073 [GRCh38]
Chr21:47831987 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3898GAG[1] (p.Glu1301del) microsatellite PCNT-related disorder [RCV004724342] Chr21:46390727..46390729 [GRCh38]
Chr21:47810642..47810644 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6511C>G (p.Pro2171Ala) single nucleotide variant Inborn genetic diseases [RCV004953729]|PCNT-related disorder [RCV004740176] Chr21:46416429 [GRCh38]
Chr21:47836343 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8810_8811inv (p.Thr2937Met) inversion PCNT-related disorder [RCV004724413]|not provided [RCV005059795] Chr21:46435962..46435963 [GRCh38]
Chr21:47855875..47855876 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7619A>G (p.Gln2540Arg) single nucleotide variant PCNT-related disorder [RCV004726664] Chr21:46428519 [GRCh38]
Chr21:47848433 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1748C>G (p.Pro583Arg) single nucleotide variant Inborn genetic diseases [RCV005387316]|PCNT-related disorder [RCV004740712] Chr21:46354055 [GRCh38]
Chr21:47773969 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8338G>C (p.Val2780Leu) single nucleotide variant PCNT-related disorder [RCV004740714] Chr21:46431802 [GRCh38]
Chr21:47851716 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1659T>A (p.Leu553=) single nucleotide variant PCNT-related disorder [RCV004740733] Chr21:46353306 [GRCh38]
Chr21:47773220 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5463G>A (p.Gln1821=) single nucleotide variant PCNT-related disorder [RCV004740731] Chr21:46411536 [GRCh38]
Chr21:47831450 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8859C>G (p.His2953Gln) single nucleotide variant PCNT-related disorder [RCV004740856] Chr21:46436011 [GRCh38]
Chr21:47855924 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5351G>A (p.Arg1784His) single nucleotide variant Inborn genetic diseases [RCV004953734]|PCNT-related disorder [RCV004740858] Chr21:46411424 [GRCh38]
Chr21:47831338 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.238G>A (p.Asp80Asn) single nucleotide variant PCNT-related disorder [RCV004740907] Chr21:46326560 [GRCh38]
Chr21:47746474 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3732G>T (p.Met1244Ile) single nucleotide variant PCNT-related disorder [RCV004740930] Chr21:46389323 [GRCh38]
Chr21:47809238 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.795A>G (p.Thr265=) single nucleotide variant PCNT-related disorder [RCV004740911] Chr21:46346817 [GRCh38]
Chr21:47766731 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6889G>T (p.Ala2297Ser) single nucleotide variant PCNT-related disorder [RCV004741002] Chr21:46416807 [GRCh38]
Chr21:47836721 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2124T>G (p.His708Gln) single nucleotide variant PCNT-related disorder [RCV004741017] Chr21:46357161 [GRCh38]
Chr21:47777076 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8675G>A (p.Arg2892Lys) single nucleotide variant PCNT-related disorder [RCV004726646] Chr21:46432139 [GRCh38]
Chr21:47852053 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9274-5T>C single nucleotide variant PCNT-related disorder [RCV004738987] Chr21:46440078 [GRCh38]
Chr21:47859991 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6964C>A (p.Gln2322Lys) single nucleotide variant PCNT-related disorder [RCV004739101] Chr21:46418246 [GRCh38]
Chr21:47838160 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.911A>C (p.Glu304Ala) single nucleotide variant PCNT-related disorder [RCV004739102] Chr21:46346933 [GRCh38]
Chr21:47766847 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7060G>A (p.Gly2354Arg) single nucleotide variant PCNT-related disorder [RCV004739150] Chr21:46422005 [GRCh38]
Chr21:47841919 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.107A>C (p.Lys36Thr) single nucleotide variant PCNT-related disorder [RCV004739160] Chr21:46326429 [GRCh38]
Chr21:47746343 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6421G>A (p.Val2141Ile) single nucleotide variant PCNT-related disorder [RCV004739172] Chr21:46416339 [GRCh38]
Chr21:47836253 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6086A>T (p.Gln2029Leu) single nucleotide variant PCNT-related disorder [RCV004739185] Chr21:46412928 [GRCh38]
Chr21:47832842 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.427C>A (p.Arg143Ser) single nucleotide variant PCNT-related disorder [RCV004739190] Chr21:46334556 [GRCh38]
Chr21:47754470 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1208-3T>C single nucleotide variant PCNT-related disorder [RCV004739131] Chr21:46349681 [GRCh38]
Chr21:47769595 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9080G>C (p.Ser3027Thr) single nucleotide variant PCNT-related disorder [RCV004739229] Chr21:46437062 [GRCh38]
Chr21:47856975 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2672A>G (p.Gln891Arg) single nucleotide variant PCNT-related disorder [RCV004739147] Chr21:46366646 [GRCh38]
Chr21:47786561 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3645C>A (p.Leu1215=) single nucleotide variant PCNT-related disorder [RCV004729719] Chr21:46389236 [GRCh38]
Chr21:47809151 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3503T>G (p.Leu1168Trp) single nucleotide variant PCNT-related disorder [RCV004727837] Chr21:46388780 [GRCh38]
Chr21:47808695 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9903T>C (p.His3301=) single nucleotide variant PCNT-related disorder [RCV004728007] Chr21:46444757 [GRCh38]
Chr21:47864670 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7608G>C (p.Gln2536His) single nucleotide variant not specified [RCV004800173] Chr21:46428508 [GRCh38]
Chr21:47848422 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4729A>G (p.Lys1577Glu) single nucleotide variant PCNT-related disorder [RCV004739154] Chr21:46399734 [GRCh38]
Chr21:47819648 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8133G>C (p.Glu2711Asp) single nucleotide variant PCNT-related disorder [RCV004739202] Chr21:46431597 [GRCh38]
Chr21:47851511 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.751C>T (p.Arg251Cys) single nucleotide variant PCNT-related disorder [RCV004739737] Chr21:46346773 [GRCh38]
Chr21:47766687 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4731del (p.Val1578fs) deletion PCNT-related disorder [RCV004739741] Chr21:46399731 [GRCh38]
Chr21:47819645 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.9064C>G (p.Leu3022Val) single nucleotide variant PCNT-related disorder [RCV004739810] Chr21:46437046 [GRCh38]
Chr21:47856959 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5857C>T (p.Arg1953Cys) single nucleotide variant PCNT-related disorder [RCV004739836] Chr21:46411930 [GRCh38]
Chr21:47831844 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6672G>C (p.Trp2224Cys) single nucleotide variant Inborn genetic diseases [RCV004953720]|PCNT-related disorder [RCV004739803] Chr21:46416590 [GRCh38]
Chr21:47836504 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8340G>A (p.Val2780=) single nucleotide variant PCNT-related disorder [RCV004739937] Chr21:46431804 [GRCh38]
Chr21:47851718 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1085G>A (p.Arg362His) single nucleotide variant PCNT-related disorder [RCV004740008] Chr21:46349064 [GRCh38]
Chr21:47768978 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8593A>C (p.Arg2865=) single nucleotide variant PCNT-related disorder [RCV004739979] Chr21:46432057 [GRCh38]
Chr21:47851971 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.552_590del (p.Met184_Gly196del) deletion PCNT-related disorder [RCV004740064] Chr21:46334667..46334705 [GRCh38]
Chr21:47754581..47754619 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9968-8A>T single nucleotide variant PCNT-related disorder [RCV004740063] Chr21:46445276 [GRCh38]
Chr21:47865189 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7356C>T (p.Asp2452=) single nucleotide variant PCNT-related disorder [RCV004740069] Chr21:46427657 [GRCh38]
Chr21:47847571 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4539G>A (p.Gln1513=) single nucleotide variant PCNT-related disorder [RCV004740079] Chr21:46398106 [GRCh38]
Chr21:47818020 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2455G>A (p.Gly819Ser) single nucleotide variant Inborn genetic diseases [RCV005387314]|PCNT-related disorder [RCV004740084] Chr21:46363780 [GRCh38]
Chr21:47783695 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2170A>G (p.Ile724Val) single nucleotide variant PCNT-related disorder [RCV004740134] Chr21:46363495 [GRCh38]
Chr21:47783410 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1557G>A (p.Leu519=) single nucleotide variant PCNT-related disorder [RCV004740086]|not provided [RCV005059862] Chr21:46353204 [GRCh38]
Chr21:47773118 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.574C>A (p.Pro192Thr) single nucleotide variant PCNT-related disorder [RCV004740096] Chr21:46334703 [GRCh38]
Chr21:47754617 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1463A>T (p.His488Leu) single nucleotide variant PCNT-related disorder [RCV004740192] Chr21:46353110 [GRCh38]
Chr21:47773024 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.115G>T (p.Ala39Ser) single nucleotide variant PCNT-related disorder [RCV004728193] Chr21:46326437 [GRCh38]
Chr21:47746351 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.91dup (p.Ser31fs) duplication PCNT-related disorder [RCV004728210] Chr21:46326412..46326413 [GRCh38]
Chr21:47746326..47746327 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.2758G>A (p.Glu920Lys) single nucleotide variant PCNT-related disorder [RCV004728246] Chr21:46366732 [GRCh38]
Chr21:47786647 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5701A>G (p.Ile1901Val) single nucleotide variant PCNT-related disorder [RCV004728538] Chr21:46411774 [GRCh38]
Chr21:47831688 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5546T>G (p.Val1849Gly) single nucleotide variant PCNT-related disorder [RCV004740725] Chr21:46411619 [GRCh38]
Chr21:47831533 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1721G>A (p.Arg574Lys) single nucleotide variant PCNT-related disorder [RCV004740835] Chr21:46354028 [GRCh38]
Chr21:47773942 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6602G>A (p.Arg2201His) single nucleotide variant PCNT-related disorder [RCV004740876] Chr21:46416520 [GRCh38]
Chr21:47836434 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4794T>C (p.Asp1598=) single nucleotide variant PCNT-related disorder [RCV004740820] Chr21:46401553 [GRCh38]
Chr21:47821467 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8974_8982dup (p.Ser2994_Gln2995insPheThrSer) duplication PCNT-related disorder [RCV004740917] Chr21:46436117..46436118 [GRCh38]
Chr21:47856030..47856031 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.209G>T (p.Cys70Phe) single nucleotide variant PCNT-related disorder [RCV004740920] Chr21:46326531 [GRCh38]
Chr21:47746445 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2296A>G (p.Lys766Glu) single nucleotide variant PCNT-related disorder [RCV004740921] Chr21:46363621 [GRCh38]
Chr21:47783536 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.180_198del (p.Asp60fs) deletion PCNT-related disorder [RCV004740851] Chr21:46326496..46326514 [GRCh38]
Chr21:47746410..47746428 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.2357T>G (p.Ile786Arg) single nucleotide variant PCNT-related disorder [RCV004740989] Chr21:46363682 [GRCh38]
Chr21:47783597 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9034G>A (p.Val3012Met) single nucleotide variant PCNT-related disorder [RCV004740875] Chr21:46437016 [GRCh38]
Chr21:47856929 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7813G>A (p.Val2605Ile) single nucleotide variant PCNT-related disorder [RCV004741011] Chr21:46430132 [GRCh38]
Chr21:47850046 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6376A>G (p.Ile2126Val) single nucleotide variant PCNT-related disorder [RCV004730068] Chr21:46416294 [GRCh38]
Chr21:47836208 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1650A>C (p.Glu550Asp) single nucleotide variant PCNT-related disorder [RCV004730025] Chr21:46353297 [GRCh38]
Chr21:47773211 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8539G>T (p.Val2847Leu) single nucleotide variant PCNT-related disorder [RCV004728166] Chr21:46432003 [GRCh38]
Chr21:47851917 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5662T>C (p.Ser1888Pro) single nucleotide variant PCNT-related disorder [RCV004728468] Chr21:46411735 [GRCh38]
Chr21:47831649 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8878_8890del (p.Ala2960fs) deletion PCNT-related disorder [RCV004728653] Chr21:46436028..46436040 [GRCh38]
Chr21:47855941..47855953 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.720+9G>A single nucleotide variant PCNT-related disorder [RCV004726352] Chr21:46346217 [GRCh38]
Chr21:47766131 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5523T>C (p.Asn1841=) single nucleotide variant PCNT-related disorder [RCV004726522] Chr21:46411596 [GRCh38]
Chr21:47831510 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5266A>T (p.Met1756Leu) single nucleotide variant PCNT-related disorder [RCV004730274] Chr21:46411339 [GRCh38]
Chr21:47831253 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1685C>G (p.Ser562Cys) single nucleotide variant PCNT-related disorder [RCV004730297] Chr21:46353992 [GRCh38]
Chr21:47773906 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8001C>T (p.Ser2667=) single nucleotide variant PCNT-related disorder [RCV004729677] Chr21:46430594 [GRCh38]
Chr21:47850508 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8344C>A (p.Gln2782Lys) single nucleotide variant PCNT-related disorder [RCV004728048] Chr21:46431808 [GRCh38]
Chr21:47851722 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.340C>G (p.Pro114Ala) single nucleotide variant PCNT-related disorder [RCV004739011] Chr21:46334469 [GRCh38]
Chr21:47754383 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9106dup (p.Met3036fs) duplication PCNT-related disorder [RCV004739025] Chr21:46438163..46438164 [GRCh38]
Chr21:47858076..47858077 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.9595G>A (p.Ala3199Thr) single nucleotide variant PCNT-related disorder [RCV004739077] Chr21:46441056 [GRCh38]
Chr21:47860969 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2154+8G>T single nucleotide variant PCNT-related disorder [RCV004739084] Chr21:46357199 [GRCh38]
Chr21:47777114 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5115+8A>C single nucleotide variant PCNT-related disorder [RCV004739110] Chr21:46402491 [GRCh38]
Chr21:47822405 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5927C>T (p.Ala1976Val) single nucleotide variant PCNT-related disorder [RCV004739230] Chr21:46412000 [GRCh38]
Chr21:47831914 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.317A>G (p.Gln106Arg) single nucleotide variant PCNT-related disorder [RCV004739257] Chr21:46334446 [GRCh38]
Chr21:47754360 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.344A>G (p.Glu115Gly) single nucleotide variant PCNT-related disorder [RCV004730105] Chr21:46334473 [GRCh38]
Chr21:47754387 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5264T>C (p.Leu1755Pro) single nucleotide variant PCNT-related disorder [RCV004728327] Chr21:46411337 [GRCh38]
Chr21:47831251 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6127C>G (p.Leu2043Val) single nucleotide variant PCNT-related disorder [RCV004728623] Chr21:46412969 [GRCh38]
Chr21:47832883 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.139_147delinsCAGGAGGAGA (p.Asp47fs) indel PCNT-related disorder [RCV004739000] Chr21:46326461..46326469 [GRCh38]
Chr21:47746375..47746383 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8078C>T (p.Ser2693Phe) single nucleotide variant PCNT-related disorder [RCV004739031] Chr21:46431542 [GRCh38]
Chr21:47851456 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8221T>C (p.Ser2741Pro) single nucleotide variant PCNT-related disorder [RCV004739045] Chr21:46431685 [GRCh38]
Chr21:47851599 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2849A>G (p.Gln950Arg) single nucleotide variant PCNT-related disorder [RCV004739095] Chr21:46366823 [GRCh38]
Chr21:47786738 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4180G>A (p.Glu1394Lys) single nucleotide variant PCNT-related disorder [RCV004739107] Chr21:46391340 [GRCh38]
Chr21:47811255 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9162C>T (p.Ser3054=) single nucleotide variant PCNT-related disorder [RCV004739169] Chr21:46438226 [GRCh38]
Chr21:47858139 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2154+1G>A single nucleotide variant PCNT-related disorder [RCV004739146] Chr21:46357192 [GRCh38]
Chr21:47777107 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.1321A>C (p.Ser441Arg) single nucleotide variant PCNT-related disorder [RCV004739246] Chr21:46349797 [GRCh38]
Chr21:47769711 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3944G>A (p.Cys1315Tyr) single nucleotide variant PCNT-related disorder [RCV004739759] Chr21:46390773 [GRCh38]
Chr21:47810688 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7448G>A (p.Gly2483Asp) single nucleotide variant PCNT-related disorder [RCV004739811] Chr21:46427749 [GRCh38]
Chr21:47847663 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2651C>T (p.Ala884Val) single nucleotide variant PCNT-related disorder [RCV004739848] Chr21:46366625 [GRCh38]
Chr21:47786540 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8843C>T (p.Pro2948Leu) single nucleotide variant PCNT-related disorder [RCV004739850] Chr21:46435995 [GRCh38]
Chr21:47855908 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9053C>T (p.Thr3018Met) single nucleotide variant PCNT-related disorder [RCV004739857] Chr21:46437035 [GRCh38]
Chr21:47856948 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2047C>G (p.Leu683Val) single nucleotide variant PCNT-related disorder [RCV004739913] Chr21:46357084 [GRCh38]
Chr21:47776999 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.587G>A (p.Gly196Glu) single nucleotide variant PCNT-related disorder [RCV004739944] Chr21:46334716 [GRCh38]
Chr21:47754630 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.87T>C (p.Gly29=) single nucleotide variant PCNT-related disorder [RCV004739992] Chr21:46326409 [GRCh38]
Chr21:47746323 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6310C>T (p.His2104Tyr) single nucleotide variant PCNT-related disorder [RCV004740027] Chr21:46416228 [GRCh38]
Chr21:47836142 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7179+1G>T single nucleotide variant PCNT-related disorder [RCV004740020] Chr21:46422125 [GRCh38]
Chr21:47842039 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.4834C>T (p.Leu1612=) single nucleotide variant PCNT-related disorder [RCV004740056] Chr21:46401593 [GRCh38]
Chr21:47821507 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8094T>C (p.Arg2698=) single nucleotide variant PCNT-related disorder [RCV004724237] Chr21:46431558 [GRCh38]
Chr21:47851472 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1528del (p.Thr510fs) deletion PCNT-related disorder [RCV004740157] Chr21:46353170 [GRCh38]
Chr21:47773084 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.7495-4C>T single nucleotide variant PCNT-related disorder [RCV004740102] Chr21:46428391 [GRCh38]
Chr21:47848305 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4468_4479dup (p.Glu1493_Glu1494insHisGluArgGlu) duplication PCNT-related disorder [RCV004740727] Chr21:46398031..46398032 [GRCh38]
Chr21:47817945..47817946 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9260G>A (p.Gly3087Asp) single nucleotide variant PCNT-related disorder [RCV004740810] Chr21:46438324 [GRCh38]
Chr21:47858237 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3166-4A>G single nucleotide variant PCNT-related disorder [RCV004740780] Chr21:46381690 [GRCh38]
Chr21:47801605 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5725C>T (p.Pro1909Ser) single nucleotide variant PCNT-related disorder [RCV004740797] Chr21:46411798 [GRCh38]
Chr21:47831712 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7751C>T (p.Thr2584Met) single nucleotide variant PCNT-related disorder [RCV004740925] Chr21:46430070 [GRCh38]
Chr21:47849984 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8294G>A (p.Arg2765Gln) single nucleotide variant PCNT-related disorder [RCV004740984] Chr21:46431758 [GRCh38]
Chr21:47851672 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.834G>A (p.Thr278=) single nucleotide variant PCNT-related disorder [RCV004740933] Chr21:46346856 [GRCh38]
Chr21:47766770 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8581C>T (p.Leu2861=) single nucleotide variant PCNT-related disorder [RCV004741014] Chr21:46432045 [GRCh38]
Chr21:47851959 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7581G>T (p.Gln2527His) single nucleotide variant PCNT-related disorder [RCV004729795] Chr21:46428481 [GRCh38]
Chr21:47848395 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5275G>A (p.Val1759Met) single nucleotide variant PCNT-related disorder [RCV004739007] Chr21:46411348 [GRCh38]
Chr21:47831262 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5903C>G (p.Pro1968Arg) single nucleotide variant PCNT-related disorder [RCV004739012] Chr21:46411976 [GRCh38]
Chr21:47831890 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.335A>T (p.His112Leu) single nucleotide variant PCNT-related disorder [RCV004739038] Chr21:46334464 [GRCh38]
Chr21:47754378 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7360C>G (p.Leu2454Val) single nucleotide variant PCNT-related disorder [RCV004739065] Chr21:46427661 [GRCh38]
Chr21:47847575 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7320+1G>A single nucleotide variant PCNT-related disorder [RCV004739104] Chr21:46425972 [GRCh38]
Chr21:47845886 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.3607+9G>A single nucleotide variant PCNT-related disorder [RCV004739032] Chr21:46388893 [GRCh38]
Chr21:47808808 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.56T>A (p.Leu19His) single nucleotide variant PCNT-related disorder [RCV004739156] Chr21:46326378 [GRCh38]
Chr21:47746292 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5791C>A (p.Arg1931Ser) single nucleotide variant PCNT-related disorder [RCV004739214] Chr21:46411864 [GRCh38]
Chr21:47831778 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4447G>A (p.Glu1483Lys) single nucleotide variant PCNT-related disorder [RCV004739136] Chr21:46398014 [GRCh38]
Chr21:47817928 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2128A>G (p.Thr710Ala) single nucleotide variant PCNT-related disorder [RCV004739203] Chr21:46357165 [GRCh38]
Chr21:47777080 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8781C>G (p.Asp2927Glu) single nucleotide variant PCNT-related disorder [RCV004739802] Chr21:46435933 [GRCh38]
Chr21:47855846 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2097T>C (p.Asn699=) single nucleotide variant PCNT-related disorder [RCV004739780] Chr21:46357134 [GRCh38]
Chr21:47777049 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8509_8511del (p.Lys2837del) deletion PCNT-related disorder [RCV004739935] Chr21:46431971..46431973 [GRCh38]
Chr21:47851885..47851887 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6950C>T (p.Thr2317Ile) single nucleotide variant Inborn genetic diseases [RCV005387313]|PCNT-related disorder [RCV004739952] Chr21:46418232 [GRCh38]
Chr21:47838146 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.333C>T (p.Asp111=) single nucleotide variant PCNT-related disorder [RCV004739911] Chr21:46334462 [GRCh38]
Chr21:47754376 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9695G>A (p.Arg3232His) single nucleotide variant PCNT-related disorder [RCV004739996] Chr21:46442568 [GRCh38]
Chr21:47862481 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2264T>C (p.Met755Thr) single nucleotide variant PCNT-related disorder [RCV004740042] Chr21:46363589 [GRCh38]
Chr21:47783504 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9713G>A (p.Arg3238Gln) single nucleotide variant PCNT-related disorder [RCV004740114] Chr21:46443822 [GRCh38]
Chr21:47863735 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8643G>A (p.Arg2881=) single nucleotide variant PCNT-related disorder [RCV004740098] Chr21:46432107 [GRCh38]
Chr21:47852021 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6869A>G (p.Gln2290Arg) single nucleotide variant PCNT-related disorder [RCV004740215] Chr21:46416787 [GRCh38]
Chr21:47836701 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5857C>A (p.Arg1953Ser) single nucleotide variant PCNT-related disorder [RCV004724405] Chr21:46411930 [GRCh38]
Chr21:47831844 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5320G>A (p.Glu1774Lys) single nucleotide variant PCNT-related disorder [RCV004726433] Chr21:46411393 [GRCh38]
Chr21:47831307 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4792-5A>C single nucleotide variant PCNT-related disorder [RCV004726516] Chr21:46401546 [GRCh38]
Chr21:47821460 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6443_6444delinsCTA (p.Asp2148fs) indel PCNT-related disorder [RCV004724633] Chr21:46416361..46416362 [GRCh38]
Chr21:47836275..47836276 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.8258G>T (p.Arg2753Leu) single nucleotide variant PCNT-related disorder [RCV004740790] Chr21:46431722 [GRCh38]
Chr21:47851636 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4945C>G (p.Leu1649Val) single nucleotide variant PCNT-related disorder [RCV004740791] Chr21:46401704 [GRCh38]
Chr21:47821618 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4621G>T (p.Asp1541Tyr) single nucleotide variant PCNT-related disorder [RCV004724665] Chr21:46399626 [GRCh38]
Chr21:47819540 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2602C>A (p.Arg868=) single nucleotide variant PCNT-related disorder [RCV004740739] Chr21:46363927 [GRCh38]
Chr21:47783842 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8259C>T (p.Arg2753=) single nucleotide variant PCNT-related disorder [RCV004740754] Chr21:46431723 [GRCh38]
Chr21:47851637 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5994+10C>T single nucleotide variant PCNT-related disorder [RCV004740760] Chr21:46412077 [GRCh38]
Chr21:47831991 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6111G>T (p.Val2037=) single nucleotide variant PCNT-related disorder [RCV004740762] Chr21:46412953 [GRCh38]
Chr21:47832867 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7800G>C (p.Ala2600=) single nucleotide variant PCNT-related disorder [RCV004740792] Chr21:46430119 [GRCh38]
Chr21:47850033 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.710A>G (p.His237Arg) single nucleotide variant Inborn genetic diseases [RCV004953735]|PCNT-related disorder [RCV004740866] Chr21:46346198 [GRCh38]
Chr21:47766112 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1768C>T (p.Leu590=) single nucleotide variant PCNT-related disorder [RCV004740824] Chr21:46355458 [GRCh38]
Chr21:47775373 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.539A>G (p.Glu180Gly) single nucleotide variant Inborn genetic diseases [RCV005387319]|PCNT-related disorder [RCV004740979] Chr21:46334668 [GRCh38]
Chr21:47754582 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9434T>G (p.Phe3145Cys) single nucleotide variant PCNT-related disorder [RCV004728075] Chr21:46440895 [GRCh38]
Chr21:47860808 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3759G>A (p.Glu1253=) single nucleotide variant PCNT-related disorder [RCV004728044] Chr21:46389350 [GRCh38]
Chr21:47809265 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5557G>T (p.Ala1853Ser) single nucleotide variant PCNT-related disorder [RCV004726637] Chr21:46411630 [GRCh38]
Chr21:47831544 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4886dup (p.Ser1630fs) duplication PCNT-related disorder [RCV004726623] Chr21:46401643..46401644 [GRCh38]
Chr21:47821557..47821558 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.1208-6T>G single nucleotide variant PCNT-related disorder [RCV004726643] Chr21:46349678 [GRCh38]
Chr21:47769592 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5602G>A (p.Ala1868Thr) single nucleotide variant PCNT-related disorder [RCV004727996] Chr21:46411675 [GRCh38]
Chr21:47831589 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7851G>C (p.Arg2617Ser) single nucleotide variant PCNT-related disorder [RCV004728126] Chr21:46430170 [GRCh38]
Chr21:47850084 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.210C>G (p.Cys70Trp) single nucleotide variant PCNT-related disorder [RCV004724480] Chr21:46326532 [GRCh38]
Chr21:47746446 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.779C>T (p.Ala260Val) single nucleotide variant PCNT-related disorder [RCV004740713] Chr21:46346801 [GRCh38]
Chr21:47766715 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3308A>T (p.Gln1103Leu) single nucleotide variant PCNT-related disorder [RCV004740746] Chr21:46381836 [GRCh38]
Chr21:47801751 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9273C>G (p.Ser3091Arg) single nucleotide variant PCNT-related disorder [RCV004740759] Chr21:46438337 [GRCh38]
Chr21:47858250 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5989C>T (p.Pro1997Ser) single nucleotide variant PCNT-related disorder [RCV004724645] Chr21:46412062 [GRCh38]
Chr21:47831976 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9273+5G>T single nucleotide variant PCNT-related disorder [RCV004740728] Chr21:46438342 [GRCh38]
Chr21:47858255 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3136G>A (p.Val1046Met) single nucleotide variant PCNT-related disorder [RCV004740755] Chr21:46367110 [GRCh38]
Chr21:47787025 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3841-6T>A single nucleotide variant PCNT-related disorder [RCV004740814] Chr21:46390664 [GRCh38]
Chr21:47810579 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5941G>A (p.Asp1981Asn) single nucleotide variant PCNT-related disorder [RCV004740908] Chr21:46412014 [GRCh38]
Chr21:47831928 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4140G>C (p.Ala1380=) single nucleotide variant PCNT-related disorder [RCV004740837] Chr21:46391300 [GRCh38]
Chr21:47811215 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2164A>G (p.Asn722Asp) single nucleotide variant PCNT-related disorder [RCV004740964] Chr21:46363489 [GRCh38]
Chr21:47783404 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.940A>G (p.Lys314Glu) single nucleotide variant PCNT-related disorder [RCV004740899] Chr21:46346962 [GRCh38]
Chr21:47766876 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5887G>A (p.Gly1963Arg) single nucleotide variant PCNT-related disorder [RCV004741004]|not provided [RCV005059901] Chr21:46411960 [GRCh38]
Chr21:47831874 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9589C>T (p.Arg3197Cys) single nucleotide variant PCNT-related disorder [RCV004741025] Chr21:46441050 [GRCh38]
Chr21:47860963 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2846T>C (p.Leu949Pro) single nucleotide variant PCNT-related disorder [RCV004727864] Chr21:46366820 [GRCh38]
Chr21:47786735 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8103C>T (p.Ser2701=) single nucleotide variant PCNT-related disorder [RCV004727848] Chr21:46431567 [GRCh38]
Chr21:47851481 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9245A>G (p.His3082Arg) single nucleotide variant PCNT-related disorder [RCV004728186] Chr21:46438309 [GRCh38]
Chr21:47858222 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2916A>G (p.Glu972=) single nucleotide variant PCNT-related disorder [RCV004728350] Chr21:46366890 [GRCh38]
Chr21:47786805 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.255C>T (p.Ala85=) single nucleotide variant PCNT-related disorder [RCV004728417] Chr21:46326577 [GRCh38]
Chr21:47746491 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3071A>T (p.Glu1024Val) single nucleotide variant PCNT-related disorder [RCV004728494] Chr21:46367045 [GRCh38]
Chr21:47786960 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2822T>C (p.Leu941Pro) single nucleotide variant PCNT-related disorder [RCV004726668] Chr21:46366796 [GRCh38]
Chr21:47786711 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7529G>C (p.Arg2510Pro) single nucleotide variant PCNT-related disorder [RCV004729746] Chr21:46428429 [GRCh38]
Chr21:47848343 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9274-2A>C single nucleotide variant PCNT-related disorder [RCV004729769] Chr21:46440081 [GRCh38]
Chr21:47859994 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.1943C>T (p.Pro648Leu) single nucleotide variant PCNT-related disorder [RCV004738990] Chr21:46356980 [GRCh38]
Chr21:47776895 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6070A>G (p.Thr2024Ala) single nucleotide variant PCNT-related disorder [RCV004739018] Chr21:46412912 [GRCh38]
Chr21:47832826 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7385A>G (p.Glu2462Gly) single nucleotide variant PCNT-related disorder [RCV004739082] Chr21:46427686 [GRCh38]
Chr21:47847600 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.842G>A (p.Arg281Gln) single nucleotide variant PCNT-related disorder [RCV004739085] Chr21:46346864 [GRCh38]
Chr21:47766778 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.147T>A (p.Ser49=) single nucleotide variant PCNT-related disorder [RCV004739094] Chr21:46326469 [GRCh38]
Chr21:47746383 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.761T>G (p.Leu254Arg) single nucleotide variant PCNT-related disorder [RCV004739103] Chr21:46346783 [GRCh38]
Chr21:47766697 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8107C>G (p.Arg2703Gly) single nucleotide variant PCNT-related disorder [RCV004739126] Chr21:46431571 [GRCh38]
Chr21:47851485 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5474A>G (p.Gln1825Arg) single nucleotide variant PCNT-related disorder [RCV004739164] Chr21:46411547 [GRCh38]
Chr21:47831461 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9329G>A (p.Arg3110Lys) single nucleotide variant PCNT-related disorder [RCV004739176] Chr21:46440138 [GRCh38]
Chr21:47860051 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4100G>A (p.Ser1367Asn) single nucleotide variant PCNT-related disorder [RCV004739208] Chr21:46391260 [GRCh38]
Chr21:47811175 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6205C>T (p.Gln2069Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005023670]|PCNT-related disorder [RCV004739226]|not provided [RCV005103703] Chr21:46416123 [GRCh38]
Chr21:47836037 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_006031.6(PCNT):c.2401G>C (p.Asp801His) single nucleotide variant Inborn genetic diseases [RCV004953716]|PCNT-related disorder [RCV004739267] Chr21:46363726 [GRCh38]
Chr21:47783641 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7937A>G (p.Asn2646Ser) single nucleotide variant PCNT-related disorder [RCV004739113] Chr21:46430530 [GRCh38]
Chr21:47850444 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4737C>T (p.Ala1579=) single nucleotide variant PCNT-related disorder [RCV004739201] Chr21:46399742 [GRCh38]
Chr21:47819656 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9604G>C (p.Val3202Leu) single nucleotide variant PCNT-related disorder [RCV004739223] Chr21:46441065 [GRCh38]
Chr21:47860978 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1276G>A (p.Glu426Lys) single nucleotide variant PCNT-related disorder [RCV004739244] Chr21:46349752 [GRCh38]
Chr21:47769666 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9767C>T (p.Pro3256Leu) single nucleotide variant PCNT-related disorder [RCV004739734] Chr21:46443876 [GRCh38]
Chr21:47863789 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2493C>G (p.Asp831Glu) single nucleotide variant PCNT-related disorder [RCV004739764] Chr21:46363818 [GRCh38]
Chr21:47783733 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8066A>T (p.Glu2689Val) single nucleotide variant PCNT-related disorder [RCV004739801]|not provided [RCV004820325] Chr21:46431530 [GRCh38]
Chr21:47851444 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8489G>A (p.Cys2830Tyr) single nucleotide variant PCNT-related disorder [RCV004739812] Chr21:46431953 [GRCh38]
Chr21:47851867 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8024G>A (p.Arg2675Gln) single nucleotide variant PCNT-related disorder [RCV004739813] Chr21:46430617 [GRCh38]
Chr21:47850531 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4084G>A (p.Val1362Met) single nucleotide variant PCNT-related disorder [RCV004739831] Chr21:46391244 [GRCh38]
Chr21:47811159 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5519G>T (p.Arg1840Leu) single nucleotide variant PCNT-related disorder [RCV004739772] Chr21:46411592 [GRCh38]
Chr21:47831506 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6921+4G>C single nucleotide variant PCNT-related disorder [RCV004739835] Chr21:46416843 [GRCh38]
Chr21:47836757 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5345G>A (p.Gly1782Asp) single nucleotide variant PCNT-related disorder [RCV004739919] Chr21:46411418 [GRCh38]
Chr21:47831332 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1889C>T (p.Ala630Val) single nucleotide variant PCNT-related disorder [RCV004739930] Chr21:46355579 [GRCh38]
Chr21:47775494 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4256C>T (p.Ser1419Leu) single nucleotide variant PCNT-related disorder [RCV004739887]|not provided [RCV005103767] Chr21:46397304 [GRCh38]
Chr21:47817218 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8413C>T (p.Gln2805Ter) single nucleotide variant PCNT-related disorder [RCV004739977] Chr21:46431877 [GRCh38]
Chr21:47851791 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.4446T>G (p.Asp1482Glu) single nucleotide variant PCNT-related disorder [RCV004739926] Chr21:46397494 [GRCh38]
Chr21:47817408 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8602C>T (p.Pro2868Ser) single nucleotide variant PCNT-related disorder [RCV004740000] Chr21:46432066 [GRCh38]
Chr21:47851980 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5143G>A (p.Glu1715Lys) single nucleotide variant PCNT-related disorder [RCV004739981] Chr21:46411216 [GRCh38]
Chr21:47831130 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.854A>G (p.Asn285Ser) single nucleotide variant PCNT-related disorder [RCV004740038] Chr21:46346876 [GRCh38]
Chr21:47766790 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3438C>G (p.Ala1146=) single nucleotide variant PCNT-related disorder [RCV004739993]|not provided [RCV005103800] Chr21:46385957 [GRCh38]
Chr21:47805872 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3524C>T (p.Ala1175Val) single nucleotide variant PCNT-related disorder [RCV004739994] Chr21:46388801 [GRCh38]
Chr21:47808716 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5300A>C (p.Gln1767Pro) single nucleotide variant PCNT-related disorder [RCV004740065] Chr21:46411373 [GRCh38]
Chr21:47831287 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8635C>T (p.His2879Tyr) single nucleotide variant PCNT-related disorder [RCV004739938] Chr21:46432099 [GRCh38]
Chr21:47852013 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4842C>G (p.Ser1614=) single nucleotide variant PCNT-related disorder [RCV004740014] Chr21:46401601 [GRCh38]
Chr21:47821515 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2586G>A (p.Leu862=) single nucleotide variant PCNT-related disorder [RCV004740016] Chr21:46363911 [GRCh38]
Chr21:47783826 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8704G>T (p.Ala2902Ser) single nucleotide variant PCNT-related disorder [RCV004740093] Chr21:46432168 [GRCh38]
Chr21:47852082 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7592C>T (p.Thr2531Met) single nucleotide variant PCNT-related disorder [RCV004740101] Chr21:46428492 [GRCh38]
Chr21:47848406 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3731T>C (p.Met1244Thr) single nucleotide variant PCNT-related disorder [RCV004740109] Chr21:46389322 [GRCh38]
Chr21:47809237 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7857G>A (p.Lys2619=) single nucleotide variant PCNT-related disorder [RCV004740074] Chr21:46430176 [GRCh38]
Chr21:47850090 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7057C>A (p.Pro2353Thr) single nucleotide variant PCNT-related disorder [RCV004740135] Chr21:46422002 [GRCh38]
Chr21:47841916 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4686A>G (p.Glu1562=) single nucleotide variant PCNT-related disorder [RCV004740085] Chr21:46399691 [GRCh38]
Chr21:47819605 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5333C>G (p.Ser1778Cys) single nucleotide variant PCNT-related disorder [RCV004724280] Chr21:46411406 [GRCh38]
Chr21:47831320 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.396G>A (p.Met132Ile) single nucleotide variant PCNT-related disorder [RCV004724310] Chr21:46334525 [GRCh38]
Chr21:47754439 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2770C>T (p.Gln924Ter) single nucleotide variant PCNT-related disorder [RCV004730204] Chr21:46366744 [GRCh38]
Chr21:47786659 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.9199C>G (p.Leu3067Val) single nucleotide variant Inborn genetic diseases [RCV004957124] Chr21:46438263 [GRCh38]
Chr21:47858176 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8072G>A (p.Arg2691Gln) single nucleotide variant Inborn genetic diseases [RCV004957127] Chr21:46431536 [GRCh38]
Chr21:47851450 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8509A>G (p.Lys2837Glu) single nucleotide variant Inborn genetic diseases [RCV004957131]|not provided [RCV005061509] Chr21:46431973 [GRCh38]
Chr21:47851887 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7289A>G (p.Gln2430Arg) single nucleotide variant Inborn genetic diseases [RCV004957140] Chr21:46425940 [GRCh38]
Chr21:47845854 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9344G>A (p.Gly3115Asp) single nucleotide variant Inborn genetic diseases [RCV004957144] Chr21:46440153 [GRCh38]
Chr21:47860066 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9959T>A (p.Val3320Glu) single nucleotide variant Inborn genetic diseases [RCV004957150] Chr21:46444813 [GRCh38]
Chr21:47864726 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4036G>A (p.Asp1346Asn) single nucleotide variant Inborn genetic diseases [RCV004957130] Chr21:46391196 [GRCh38]
Chr21:47811111 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8426A>T (p.Glu2809Val) single nucleotide variant Inborn genetic diseases [RCV004957136] Chr21:46431890 [GRCh38]
Chr21:47851804 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1220A>G (p.Asn407Ser) single nucleotide variant Inborn genetic diseases [RCV004957141] Chr21:46349696 [GRCh38]
Chr21:47769610 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3578A>T (p.Asp1193Val) single nucleotide variant Inborn genetic diseases [RCV004957146] Chr21:46388855 [GRCh38]
Chr21:47808770 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6637A>G (p.Lys2213Glu) single nucleotide variant Inborn genetic diseases [RCV004957151] Chr21:46416555 [GRCh38]
Chr21:47836469 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7447G>C (p.Gly2483Arg) single nucleotide variant Inborn genetic diseases [RCV004957132] Chr21:46427748 [GRCh38]
Chr21:47847662 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3403C>T (p.Arg1135Trp) single nucleotide variant Inborn genetic diseases [RCV004957133] Chr21:46385922 [GRCh38]
Chr21:47805837 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6355G>C (p.Glu2119Gln) single nucleotide variant Inborn genetic diseases [RCV004957134] Chr21:46416273 [GRCh38]
Chr21:47836187 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6595G>A (p.Gly2199Ser) single nucleotide variant Inborn genetic diseases [RCV004957142] Chr21:46416513 [GRCh38]
Chr21:47836427 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2177A>G (p.Asp726Gly) single nucleotide variant Inborn genetic diseases [RCV004957143] Chr21:46363502 [GRCh38]
Chr21:47783417 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.667A>G (p.Ile223Val) single nucleotide variant Inborn genetic diseases [RCV004957148] Chr21:46346155 [GRCh38]
Chr21:47766069 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8360A>G (p.His2787Arg) single nucleotide variant Inborn genetic diseases [RCV004957149] Chr21:46431824 [GRCh38]
Chr21:47851738 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.872A>T (p.Glu291Val) single nucleotide variant Inborn genetic diseases [RCV004957152] Chr21:46346894 [GRCh38]
Chr21:47766808 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3575A>G (p.Asp1192Gly) single nucleotide variant Inborn genetic diseases [RCV004957155] Chr21:46388852 [GRCh38]
Chr21:47808767 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.11-22.3(chr21:34586759-48097372)x3 copy number gain not provided [RCV004819321] Chr21:34586759..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
NM_006031.6(PCNT):c.7423C>T (p.Arg2475Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005029203] Chr21:46427724 [GRCh38]
Chr21:47847638 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.8374C>T (p.Gln2792Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005029207] Chr21:46431838 [GRCh38]
Chr21:47851752 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.9995C>T (p.Pro3332Leu) single nucleotide variant Inborn genetic diseases [RCV004957122] Chr21:46445311 [GRCh38]
Chr21:47865224 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4177G>C (p.Gly1393Arg) single nucleotide variant Inborn genetic diseases [RCV004957123] Chr21:46391337 [GRCh38]
Chr21:47811252 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9133G>A (p.Val3045Met) single nucleotide variant Inborn genetic diseases [RCV004957125] Chr21:46438197 [GRCh38]
Chr21:47858110 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9585G>C (p.Arg3195Ser) single nucleotide variant Inborn genetic diseases [RCV004957128] Chr21:46441046 [GRCh38]
Chr21:47860959 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9380C>G (p.Thr3127Ser) single nucleotide variant Inborn genetic diseases [RCV004957138] Chr21:46440189 [GRCh38]
Chr21:47860102 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2158A>C (p.Lys720Gln) single nucleotide variant Inborn genetic diseases [RCV004957145] Chr21:46363483 [GRCh38]
Chr21:47783398 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7352G>A (p.Gly2451Glu) single nucleotide variant Inborn genetic diseases [RCV004957147] Chr21:46427653 [GRCh38]
Chr21:47847567 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.189_190del (p.Cys64fs) microsatellite Microcephalic osteodysplastic primordial dwarfism type II [RCV005032732] Chr21:46326509..46326510 [GRCh38]
Chr21:47746423..47746424 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.382G>T (p.Glu128Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005032734] Chr21:46334511 [GRCh38]
Chr21:47754425 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.7913+1G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005029205] Chr21:46430233 [GRCh38]
Chr21:47850147 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.8997-1G>A single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005029208] Chr21:46436978 [GRCh38]
Chr21:47856891 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.3040C>T (p.Gln1014Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005029197] Chr21:46367014 [GRCh38]
Chr21:47786929 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.4216+1G>T single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005029199] Chr21:46391377 [GRCh38]
Chr21:47811292 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.8305G>T (p.Glu2769Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005029206] Chr21:46431769 [GRCh38]
Chr21:47851683 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.267+2T>C single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005032733] Chr21:46326591 [GRCh38]
Chr21:47746505 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.267+1del deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV005029192] Chr21:46326589 [GRCh38]
Chr21:47746503 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.4998del (p.Gly1667fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV005029200] Chr21:46402364 [GRCh38]
Chr21:47822278 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.1261dup (p.Glu421fs) duplication Microcephalic osteodysplastic primordial dwarfism type II [RCV005029193] Chr21:46349736..46349737 [GRCh38]
Chr21:47769650..47769651 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.1801_1813del (p.His601fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV005029194] Chr21:46355488..46355500 [GRCh38]
Chr21:47775403..47775415 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.2155_2158delinsTTCAACACAATCTAATTGTGTTGTAGTTC (p.Val719_Lys720delinsPheAsnThrIleTer) indel Microcephalic osteodysplastic primordial dwarfism type II [RCV005029195] Chr21:46363480..46363483 [GRCh38]
Chr21:47783395..47783398 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.2731C>T (p.Gln911Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005029196] Chr21:46366705 [GRCh38]
Chr21:47786620 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3841C>G (p.Leu1281Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005029198] Chr21:46390670 [GRCh38]
Chr21:47810585 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5295_5296del (p.Asp1765fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV005029202] Chr21:46411367..46411368 [GRCh38]
Chr21:47831281..47831282 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.5036T>G (p.Leu1679Arg) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005029201] Chr21:46402404 [GRCh38]
Chr21:47822318 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7626G>C (p.Leu2542Phe) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005029204] Chr21:46428526 [GRCh38]
Chr21:47848440 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:44822667-48097372)x3 copy number gain not provided [RCV004819659] Chr21:44822667..48097372 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1464T>C (p.His488=) single nucleotide variant not provided [RCV005175792] Chr21:46353111 [GRCh38]
Chr21:47773025 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2980C>A (p.Arg994=) single nucleotide variant not provided [RCV005068227] Chr21:46366954 [GRCh38]
Chr21:47786869 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2109T>A (p.Tyr703Ter) single nucleotide variant not provided [RCV005195761] Chr21:46357146 [GRCh38]
Chr21:47777061 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.4962+10G>C single nucleotide variant not provided [RCV005174180] Chr21:46401731 [GRCh38]
Chr21:47821645 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7320+13C>G single nucleotide variant not provided [RCV005146767] Chr21:46425984 [GRCh38]
Chr21:47845898 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7320+19A>G single nucleotide variant not provided [RCV005175568] Chr21:46425990 [GRCh38]
Chr21:47845904 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2610-10G>A single nucleotide variant not provided [RCV005122210] Chr21:46366574 [GRCh38]
Chr21:47786489 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3465-15T>C single nucleotide variant not provided [RCV005196101] Chr21:46388727 [GRCh38]
Chr21:47808642 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.405C>A (p.Val135=) single nucleotide variant not provided [RCV005085321] Chr21:46334534 [GRCh38]
Chr21:47754448 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1176G>A (p.Glu392=) single nucleotide variant not provided [RCV005171058] Chr21:46349155 [GRCh38]
Chr21:47769069 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9100-12C>A single nucleotide variant not provided [RCV005064641] Chr21:46438152 [GRCh38]
Chr21:47858065 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2001A>G (p.Ala667=) single nucleotide variant not provided [RCV005172778] Chr21:46357038 [GRCh38]
Chr21:47776953 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6151-13G>A single nucleotide variant not provided [RCV005171005] Chr21:46416056 [GRCh38]
Chr21:47835970 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6021G>T (p.Thr2007=) single nucleotide variant not provided [RCV005195649] Chr21:46412863 [GRCh38]
Chr21:47832777 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3607+17C>T single nucleotide variant not provided [RCV005066177] Chr21:46388901 [GRCh38]
Chr21:47808816 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.101C>T (p.Ser34Leu) single nucleotide variant not provided [RCV005174446] Chr21:46326423 [GRCh38]
Chr21:47746337 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2637C>A (p.Thr879=) single nucleotide variant not provided [RCV005172593] Chr21:46366611 [GRCh38]
Chr21:47786526 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6229C>T (p.Leu2077=) single nucleotide variant not provided [RCV005106057] Chr21:46416147 [GRCh38]
Chr21:47836061 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3166-10A>T single nucleotide variant not provided [RCV005204289] Chr21:46381684 [GRCh38]
Chr21:47801599 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4104G>A (p.Leu1368=) single nucleotide variant not provided [RCV005073561] Chr21:46391264 [GRCh38]
Chr21:47811179 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2155-19G>T single nucleotide variant not provided [RCV005116514] Chr21:46363461 [GRCh38]
Chr21:47783376 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.509G>A (p.Gly170Glu) single nucleotide variant not provided [RCV005157216] Chr21:46334638 [GRCh38]
Chr21:47754552 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4584+20A>G single nucleotide variant not provided [RCV005123107] Chr21:46398275 [GRCh38]
Chr21:47818189 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3123G>A (p.Glu1041=) single nucleotide variant not provided [RCV005122015] Chr21:46367097 [GRCh38]
Chr21:47787012 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5766C>T (p.Leu1922=) single nucleotide variant not provided [RCV005115559] Chr21:46411839 [GRCh38]
Chr21:47831753 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3129C>A (p.Ala1043=) single nucleotide variant not provided [RCV005158276] Chr21:46367103 [GRCh38]
Chr21:47787018 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7460T>A (p.Leu2487Gln) single nucleotide variant not provided [RCV005159595] Chr21:46427761 [GRCh38]
Chr21:47847675 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3165+11A>G single nucleotide variant not provided [RCV005122085] Chr21:46367150 [GRCh38]
Chr21:47787065 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4198G>A (p.Ala1400Thr) single nucleotide variant not provided [RCV005193884] Chr21:46391358 [GRCh38]
Chr21:47811273 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3305T>G (p.Val1102Gly) single nucleotide variant not provided [RCV005201782] Chr21:46381833 [GRCh38]
Chr21:47801748 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5499A>T (p.Leu1833=) single nucleotide variant not provided [RCV005153367] Chr21:46411572 [GRCh38]
Chr21:47831486 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4585-6T>G single nucleotide variant not provided [RCV005136099] Chr21:46399584 [GRCh38]
Chr21:47819498 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5384C>T (p.Ala1795Val) single nucleotide variant not provided [RCV005082840] Chr21:46411457 [GRCh38]
Chr21:47831371 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9624-11T>C single nucleotide variant not provided [RCV005158226] Chr21:46442486 [GRCh38]
Chr21:47862399 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2555_2556insCG (p.Ala853fs) insertion not provided [RCV005140330] Chr21:46363880..46363881 [GRCh38]
Chr21:47783795..47783796 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.1318G>T (p.Glu440Ter) single nucleotide variant not provided [RCV005140814] Chr21:46349794 [GRCh38]
Chr21:47769708 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3805G>A (p.Gly1269Ser) single nucleotide variant not provided [RCV005192396] Chr21:46389396 [GRCh38]
Chr21:47809311 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3465-16G>C single nucleotide variant not provided [RCV005124416] Chr21:46388726 [GRCh38]
Chr21:47808641 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5995-19C>T single nucleotide variant not provided [RCV005081420] Chr21:46412818 [GRCh38]
Chr21:47832732 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4963-19T>A single nucleotide variant not provided [RCV005206205] Chr21:46402312 [GRCh38]
Chr21:47822226 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3312+195_3313-1202del deletion not specified [RCV005236967] Chr21:46382035..46384630 [GRCh38]
Chr21:47801950..47804545 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1489C>T (p.Arg497Cys) single nucleotide variant not provided [RCV005185435] Chr21:46353136 [GRCh38]
Chr21:47773050 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2523G>C (p.Arg841=) single nucleotide variant not provided [RCV005158573] Chr21:46363848 [GRCh38]
Chr21:47783763 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2844A>G (p.Glu948=) single nucleotide variant not provided [RCV005120686] Chr21:46366818 [GRCh38]
Chr21:47786733 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4800G>A (p.Glu1600=) single nucleotide variant not provided [RCV005123088] Chr21:46401559 [GRCh38]
Chr21:47821473 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3840+13C>A single nucleotide variant not provided [RCV005070895] Chr21:46389444 [GRCh38]
Chr21:47809359 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1762-15G>T single nucleotide variant not provided [RCV005166628] Chr21:46355437 [GRCh38]
Chr21:47775352 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6609G>T (p.Gln2203His) single nucleotide variant Inborn genetic diseases [RCV005391235] Chr21:46416527 [GRCh38]
Chr21:47836441 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1730A>C (p.His577Pro) single nucleotide variant Inborn genetic diseases [RCV005391243] Chr21:46354037 [GRCh38]
Chr21:47773951 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8561A>G (p.Lys2854Arg) single nucleotide variant Inborn genetic diseases [RCV005391244] Chr21:46432025 [GRCh38]
Chr21:47851939 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1834C>T (p.Leu612Phe) single nucleotide variant Inborn genetic diseases [RCV005391246] Chr21:46355524 [GRCh38]
Chr21:47775439 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6138G>T (p.Glu2046Asp) single nucleotide variant Inborn genetic diseases [RCV005391248] Chr21:46412980 [GRCh38]
Chr21:47832894 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1070G>A (p.Cys357Tyr) single nucleotide variant Inborn genetic diseases [RCV005391249] Chr21:46349049 [GRCh38]
Chr21:47768963 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9022A>G (p.Asn3008Asp) single nucleotide variant Inborn genetic diseases [RCV005391250] Chr21:46437004 [GRCh38]
Chr21:47856917 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4657G>A (p.Ala1553Thr) single nucleotide variant Inborn genetic diseases [RCV005391253] Chr21:46399662 [GRCh38]
Chr21:47819576 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9689C>G (p.Ala3230Gly) single nucleotide variant Inborn genetic diseases [RCV005391254] Chr21:46442562 [GRCh38]
Chr21:47862475 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6902A>G (p.His2301Arg) single nucleotide variant not provided [RCV005186015] Chr21:46416820 [GRCh38]
Chr21:47836734 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5607G>T (p.Thr1869=) single nucleotide variant not provided [RCV005079954] Chr21:46411680 [GRCh38]
Chr21:47831594 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8519G>C (p.Ser2840Thr) single nucleotide variant not provided [RCV005244589] Chr21:46431983 [GRCh38]
Chr21:47851897 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5401G>A (p.Ala1801Thr) single nucleotide variant not provided [RCV005169111] Chr21:46411474 [GRCh38]
Chr21:47831388 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4934A>G (p.Gln1645Arg) single nucleotide variant not provided [RCV005242640] Chr21:46401693 [GRCh38]
Chr21:47821607 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6214C>T (p.Gln2072Ter) single nucleotide variant not provided [RCV005243983] Chr21:46416132 [GRCh38]
Chr21:47836046 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.9343G>A (p.Gly3115Ser) single nucleotide variant not provided [RCV005073443] Chr21:46440152 [GRCh38]
Chr21:47860065 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3900G>A (p.Glu1300=) single nucleotide variant not provided [RCV005111350] Chr21:46390729 [GRCh38]
Chr21:47810644 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9490C>G (p.Gln3164Glu) single nucleotide variant not provided [RCV005205919] Chr21:46440951 [GRCh38]
Chr21:47860864 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2169A>G (p.Leu723=) single nucleotide variant not provided [RCV005160079] Chr21:46363494 [GRCh38]
Chr21:47783409 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.721-1G>A single nucleotide variant not provided [RCV005144795] Chr21:46346742 [GRCh38]
Chr21:47766656 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.8749C>G (p.Leu2917Val) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005234372] Chr21:46432213 [GRCh38]
Chr21:47852127 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5864C>T (p.Ala1955Val) single nucleotide variant not provided [RCV005244900] Chr21:46411937 [GRCh38]
Chr21:47831851 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4463G>T (p.Arg1488Leu) single nucleotide variant not provided [RCV005169497] Chr21:46398030 [GRCh38]
Chr21:47817944 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1981G>A (p.Glu661Lys) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005234518] Chr21:46357018 [GRCh38]
Chr21:47776933 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.640-15G>C single nucleotide variant not provided [RCV005162950] Chr21:46346113 [GRCh38]
Chr21:47766027 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1735G>C (p.Asp579His) single nucleotide variant not provided [RCV005169774] Chr21:46354042 [GRCh38]
Chr21:47773956 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5889G>T (p.Gly1963=) single nucleotide variant not provided [RCV005138630] Chr21:46411962 [GRCh38]
Chr21:47831876 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8996+10C>A single nucleotide variant not provided [RCV005121642] Chr21:46436158 [GRCh38]
Chr21:47856071 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2892T>C (p.His964=) single nucleotide variant not provided [RCV005163611] Chr21:46366866 [GRCh38]
Chr21:47786781 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1345-4C>G single nucleotide variant not provided [RCV005166801] Chr21:46351425 [GRCh38]
Chr21:47771339 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1936+17dup duplication not provided [RCV005121676] Chr21:46355642..46355643 [GRCh38]
Chr21:47775557..47775558 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5248C>T (p.Gln1750Ter) single nucleotide variant not provided [RCV005165433] Chr21:46411321 [GRCh38]
Chr21:47831235 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.6151-1G>T single nucleotide variant not provided [RCV005120649] Chr21:46416068 [GRCh38]
Chr21:47835982 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.1824G>A (p.Leu608=) single nucleotide variant not provided [RCV005121767] Chr21:46355514 [GRCh38]
Chr21:47775429 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7597C>T (p.Leu2533=) single nucleotide variant not provided [RCV005163808] Chr21:46428497 [GRCh38]
Chr21:47848411 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6033A>C (p.Ala2011=) single nucleotide variant not provided [RCV005117398] Chr21:46412875 [GRCh38]
Chr21:47832789 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3370G>C (p.Glu1124Gln) single nucleotide variant not provided [RCV005078778] Chr21:46385889 [GRCh38]
Chr21:47805804 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3287A>T (p.Gln1096Leu) single nucleotide variant not provided [RCV005078777] Chr21:46381815 [GRCh38]
Chr21:47801730 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5116-10C>T single nucleotide variant not provided [RCV005189873] Chr21:46411179 [GRCh38]
Chr21:47831093 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1937-4A>G single nucleotide variant not provided [RCV005160912] Chr21:46356970 [GRCh38]
Chr21:47776885 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4101C>T (p.Ser1367=) single nucleotide variant not provided [RCV005139914] Chr21:46391261 [GRCh38]
Chr21:47811176 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1659T>C (p.Leu553=) single nucleotide variant not provided [RCV005157901] Chr21:46353306 [GRCh38]
Chr21:47773220 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2155-17A>G single nucleotide variant not provided [RCV005071293] Chr21:46363463 [GRCh38]
Chr21:47783378 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6024G>A (p.Leu2008=) single nucleotide variant not provided [RCV005080261] Chr21:46412866 [GRCh38]
Chr21:47832780 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1680-8C>T single nucleotide variant not provided [RCV005158384] Chr21:46353979 [GRCh38]
Chr21:47773893 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1033-12C>A single nucleotide variant not provided [RCV005158442] Chr21:46349000 [GRCh38]
Chr21:47768914 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6843C>T (p.Gly2281=) single nucleotide variant not provided [RCV005162252] Chr21:46416761 [GRCh38]
Chr21:47836675 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3263_3266del (p.Lys1088fs) deletion not provided [RCV005167174] Chr21:46381788..46381791 [GRCh38]
Chr21:47801703..47801706 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.7578C>T (p.Ala2526=) single nucleotide variant not provided [RCV005162302] Chr21:46428478 [GRCh38]
Chr21:47848392 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6048A>G (p.Gln2016=) single nucleotide variant not provided [RCV005192370] Chr21:46412890 [GRCh38]
Chr21:47832804 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.639+2T>C single nucleotide variant not provided [RCV005141076] Chr21:46334770 [GRCh38]
Chr21:47754684 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.2186del (p.Lys729fs) deletion not provided [RCV005121179] Chr21:46363510 [GRCh38]
Chr21:47783425 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.1481G>A (p.Arg494His) single nucleotide variant not provided [RCV005081311] Chr21:46353128 [GRCh38]
Chr21:47773042 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8235G>A (p.Lys2745=) single nucleotide variant not provided [RCV005161490] Chr21:46431699 [GRCh38]
Chr21:47851613 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7913+11T>C single nucleotide variant not provided [RCV005115962] Chr21:46430243 [GRCh38]
Chr21:47850157 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8490T>C (p.Cys2830=) single nucleotide variant not provided [RCV005115966] Chr21:46431954 [GRCh38]
Chr21:47851868 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.348G>A (p.Gln116=) single nucleotide variant not provided [RCV005077487] Chr21:46334477 [GRCh38]
Chr21:47754391 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3464+18A>T single nucleotide variant not provided [RCV005136349] Chr21:46386001 [GRCh38]
Chr21:47805916 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9700+9C>G single nucleotide variant not provided [RCV005148041] Chr21:46442582 [GRCh38]
Chr21:47862495 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6053G>A (p.Gly2018Asp) single nucleotide variant Inborn genetic diseases [RCV005387373]|not provided [RCV005156930] Chr21:46412895 [GRCh38]
Chr21:47832809 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9840-8G>A single nucleotide variant not provided [RCV005166192] Chr21:46444686 [GRCh38]
Chr21:47864599 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3873T>C (p.Phe1291=) single nucleotide variant not provided [RCV005077739] Chr21:46390702 [GRCh38]
Chr21:47810617 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8645T>A (p.Leu2882Ter) single nucleotide variant not provided [RCV005118847] Chr21:46432109 [GRCh38]
Chr21:47852023 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.5995-16dup duplication not provided [RCV005116694] Chr21:46412820..46412821 [GRCh38]
Chr21:47832734..47832735 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.54+15C>T single nucleotide variant not provided [RCV005075499] Chr21:46324297 [GRCh38]
Chr21:47744211 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7953G>T (p.Ala2651=) single nucleotide variant not provided [RCV005073340] Chr21:46430546 [GRCh38]
Chr21:47850460 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8797_8798insT (p.Gln2933fs) insertion not provided [RCV005154009] Chr21:46435949..46435950 [GRCh38]
Chr21:47855862..47855863 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.360C>T (p.Phe120=) single nucleotide variant not provided [RCV005115579] Chr21:46334489 [GRCh38]
Chr21:47754403 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4801G>A (p.Val1601Met) single nucleotide variant not provided [RCV005074240] Chr21:46401560 [GRCh38]
Chr21:47821474 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5978T>C (p.Val1993Ala) single nucleotide variant not provided [RCV005150757] Chr21:46412051 [GRCh38]
Chr21:47831965 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.190T>C (p.Cys64Arg) single nucleotide variant not provided [RCV005152906] Chr21:46326512 [GRCh38]
Chr21:47746426 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8638_8639del (p.Pro2880fs) deletion not provided [RCV005115828] Chr21:46432101..46432102 [GRCh38]
Chr21:47852015..47852016 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.2711T>G (p.Leu904Arg) single nucleotide variant not provided [RCV005127408] Chr21:46366685 [GRCh38]
Chr21:47786600 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3034T>G (p.Leu1012Val) single nucleotide variant not provided [RCV005128654] Chr21:46367008 [GRCh38]
Chr21:47786923 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7329C>T (p.Pro2443=) single nucleotide variant not provided [RCV005153059] Chr21:46427630 [GRCh38]
Chr21:47847544 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3313-2A>C single nucleotide variant not provided [RCV005072593] Chr21:46385830 [GRCh38]
Chr21:47805745 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.639+1G>A single nucleotide variant not provided [RCV005151998] Chr21:46334769 [GRCh38]
Chr21:47754683 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.5442C>G (p.Ser1814Arg) single nucleotide variant not provided [RCV005155434] Chr21:46411515 [GRCh38]
Chr21:47831429 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4878C>T (p.Pro1626=) single nucleotide variant not provided [RCV005074542] Chr21:46401637 [GRCh38]
Chr21:47821551 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8917C>A (p.Arg2973=) single nucleotide variant not provided [RCV005116090] Chr21:46436069 [GRCh38]
Chr21:47855982 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.74_75del (p.Arg25fs) microsatellite not provided [RCV005178371] Chr21:46326393..46326394 [GRCh38]
Chr21:47746307..47746308 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.1566T>C (p.Tyr522=) single nucleotide variant not provided [RCV005115071] Chr21:46353213 [GRCh38]
Chr21:47773127 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.8503A>T (p.Arg2835Ter) single nucleotide variant not provided [RCV005199253] Chr21:46431967 [GRCh38]
Chr21:47851881 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.7227G>A (p.Leu2409=) single nucleotide variant not provided [RCV005183077] Chr21:46425878 [GRCh38]
Chr21:47845792 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.3301C>T (p.Gln1101Ter) single nucleotide variant not provided [RCV005115749] Chr21:46381829 [GRCh38]
Chr21:47801744 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.7087_7088insGGGCCCATACCCCGAAAATGTTGGTTATACCCTTCCCGTA (p.Ala2363fs) insertion not provided [RCV005108468] Chr21:46422032..46422033 [GRCh38]
Chr21:47841946..47841947 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3003G>A (p.Leu1001=) single nucleotide variant not provided [RCV003437451] Chr21:46366977 [GRCh38]
Chr21:47786892 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.546_547del (p.Gly183fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV003405197] Chr21:46334674..46334675 [GRCh38]
Chr21:47754588..47754589 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.4602A>G (p.Gln1534=) single nucleotide variant not provided [RCV003431606] Chr21:46399607 [GRCh38]
Chr21:47819521 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7978G>A (p.Gly2660Arg) single nucleotide variant Inborn genetic diseases [RCV004661639]|PCNT-related disorder [RCV003414109] Chr21:46430571 [GRCh38]
Chr21:47850485 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5801A>C (p.Gln1934Pro) single nucleotide variant PCNT-related disorder [RCV003414142] Chr21:46411874 [GRCh38]
Chr21:47831788 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6735A>T (p.Thr2245=) single nucleotide variant not provided [RCV003574411] Chr21:46416653 [GRCh38]
Chr21:47836567 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9447_9451del (p.Ile3150fs) deletion not provided [RCV003549869] Chr21:46440907..46440911 [GRCh38]
Chr21:47860820..47860824 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.9700+15G>A single nucleotide variant not provided [RCV003817219] Chr21:46442588 [GRCh38]
Chr21:47862501 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1680-7C>T single nucleotide variant not provided [RCV003666108] Chr21:46353980 [GRCh38]
Chr21:47773894 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4564-13A>G single nucleotide variant not provided [RCV003837428] Chr21:46398222 [GRCh38]
Chr21:47818136 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.4791+7C>T single nucleotide variant not provided [RCV003724680] Chr21:46399803 [GRCh38]
Chr21:47819717 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5106G>C (p.Thr1702=) single nucleotide variant PCNT-related disorder [RCV004738826]|not provided [RCV003678621] Chr21:46402474 [GRCh38]
Chr21:47822388 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.6549A>G (p.Ser2183=) single nucleotide variant PCNT-related disorder [RCV004738863]|not provided [RCV003729086] Chr21:46416467 [GRCh38]
Chr21:47836381 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.9121C>T (p.Gln3041Ter) single nucleotide variant not provided [RCV003677926] Chr21:46438185 [GRCh38]
Chr21:47858098 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.4098G>A (p.Glu1366=) single nucleotide variant not provided [RCV003858901] Chr21:46391258 [GRCh38]
Chr21:47811173 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7624_7631del (p.Leu2542fs) deletion PCNT-related disorder [RCV003983338] Chr21:46428520..46428527 [GRCh38]
Chr21:47848434..47848441 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.5668G>A (p.Glu1890Lys) single nucleotide variant PCNT-related disorder [RCV003929586] Chr21:46411741 [GRCh38]
Chr21:47831655 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4358G>A (p.Cys1453Tyr) single nucleotide variant PCNT-related disorder [RCV003894604] Chr21:46397406 [GRCh38]
Chr21:47817320 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1504G>A (p.Glu502Lys) single nucleotide variant PCNT-related disorder [RCV003947205] Chr21:46353151 [GRCh38]
Chr21:47773065 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7946A>G (p.Lys2649Arg) single nucleotide variant Inborn genetic diseases [RCV004500804] Chr21:46430539 [GRCh38]
Chr21:47850453 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8273C>T (p.Ser2758Leu) single nucleotide variant Inborn genetic diseases [RCV004500807] Chr21:46431737 [GRCh38]
Chr21:47851651 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8606C>T (p.Ala2869Val) single nucleotide variant Inborn genetic diseases [RCV004500809] Chr21:46432070 [GRCh38]
Chr21:47851984 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8654A>G (p.Gln2885Arg) single nucleotide variant Inborn genetic diseases [RCV004500810] Chr21:46432118 [GRCh38]
Chr21:47852032 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1317A>C (p.Lys439Asn) single nucleotide variant Inborn genetic diseases [RCV004659591] Chr21:46349793 [GRCh38]
Chr21:47769707 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6132T>G (p.Ser2044Arg) single nucleotide variant PCNT-related disorder [RCV004730019] Chr21:46412974 [GRCh38]
Chr21:47832888 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.677T>C (p.Leu226Pro) single nucleotide variant PCNT-related disorder [RCV004729825] Chr21:46346165 [GRCh38]
Chr21:47766079 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3384_3385delinsTT (p.Gln1128_Arg1129delinsHisTrp) indel PCNT-related disorder [RCV004730086] Chr21:46385903..46385904 [GRCh38]
Chr21:47805818..47805819 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1328A>C (p.Lys443Thr) single nucleotide variant PCNT-related disorder [RCV004730188] Chr21:46349804 [GRCh38]
Chr21:47769718 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.659A>C (p.Glu220Ala) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005032735] Chr21:46346147 [GRCh38]
Chr21:47766061 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1357C>T (p.Gln453Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005032736] Chr21:46351441 [GRCh38]
Chr21:47771355 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.5065C>T (p.Gln1689Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005032739] Chr21:46402433 [GRCh38]
Chr21:47822347 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.8554dup (p.Thr2852fs) duplication Microcephalic osteodysplastic primordial dwarfism type II [RCV005032742] Chr21:46432017..46432018 [GRCh38]
Chr21:47851931..47851932 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.1405C>T (p.Arg469Cys) single nucleotide variant Inborn genetic diseases [RCV004957121] Chr21:46351489 [GRCh38]
Chr21:47771403 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6173A>G (p.Asp2058Gly) single nucleotide variant Inborn genetic diseases [RCV004957126] Chr21:46416091 [GRCh38]
Chr21:47836005 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.328A>C (p.Asn110His) single nucleotide variant Inborn genetic diseases [RCV004957129] Chr21:46334457 [GRCh38]
Chr21:47754371 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8458C>A (p.Gln2820Lys) single nucleotide variant Inborn genetic diseases [RCV004957135] Chr21:46431922 [GRCh38]
Chr21:47851836 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.2714A>T (p.Gln905Leu) single nucleotide variant Inborn genetic diseases [RCV004957137] Chr21:46366688 [GRCh38]
Chr21:47786603 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5515G>A (p.Glu1839Lys) single nucleotide variant Inborn genetic diseases [RCV004957139] Chr21:46411588 [GRCh38]
Chr21:47831502 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.6716G>C (p.Trp2239Ser) single nucleotide variant Inborn genetic diseases [RCV004957153] Chr21:46416634 [GRCh38]
Chr21:47836548 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3230G>A (p.Ser1077Asn) single nucleotide variant Inborn genetic diseases [RCV004957154] Chr21:46381758 [GRCh38]
Chr21:47801673 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4695dup (p.Arg1566fs) duplication Microcephalic osteodysplastic primordial dwarfism type II [RCV005032737] Chr21:46399697..46399698 [GRCh38]
Chr21:47819611..47819612 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.4889C>T (p.Ser1630Leu) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005032738] Chr21:46401648 [GRCh38]
Chr21:47821562 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8803C>T (p.Gln2935Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005032743] Chr21:46435955 [GRCh38]
Chr21:47855868 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.9752del (p.Pro3251fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV005032744]|not provided [RCV005063256] Chr21:46443855 [GRCh38]
Chr21:47863768 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_006031.6(PCNT):c.9910del (p.Thr3304fs) deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV005032745] Chr21:46444764 [GRCh38]
Chr21:47864677 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.9626T>C (p.Leu3209Ser) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV004821225] Chr21:46442499 [GRCh38]
Chr21:47862412 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4004-18T>A single nucleotide variant not provided [RCV005172274] Chr21:46391146 [GRCh38]
Chr21:47811061 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.1926G>A (p.Gly642=) single nucleotide variant not provided [RCV005167498] Chr21:46355616 [GRCh38]
Chr21:47775531 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.2880G>A (p.Leu960=) single nucleotide variant not provided [RCV005075602] Chr21:46366854 [GRCh38]
Chr21:47786769 [GRCh37]
Chr21:21q22.3		 likely benign
NC_000021.9:g.46428396del deletion not provided [RCV005155771] Chr21:46428394 [GRCh38]
Chr21:47848308 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.9838A>T (p.Arg3280Ter) single nucleotide variant not provided [RCV005153574] Chr21:46443947 [GRCh38]
Chr21:47863860 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.9789T>C (p.Pro3263=) single nucleotide variant not provided [RCV005113127] Chr21:46443898 [GRCh38]
Chr21:47863811 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.5116-16T>C single nucleotide variant not provided [RCV005071286] Chr21:46411173 [GRCh38]
Chr21:47831087 [GRCh37]
Chr21:21q22.3		 likely benign
NM_006031.6(PCNT):c.7808A>C (p.Gln2603Pro) single nucleotide variant Inborn genetic diseases [RCV005391239] Chr21:46430127 [GRCh38]
Chr21:47850041 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.9898G>C (p.Glu3300Gln) single nucleotide variant Inborn genetic diseases [RCV005391251] Chr21:46444752 [GRCh38]
Chr21:47864665 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.535C>T (p.Pro179Ser) single nucleotide variant Inborn genetic diseases [RCV005397620] Chr21:46334664 [GRCh38]
Chr21:47754578 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4120C>T (p.Gln1374Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005252583] Chr21:46391280 [GRCh38]
Chr21:47811195 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.8014G>T (p.Glu2672Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005253600] Chr21:46430607 [GRCh38]
Chr21:47850521 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.7487G>A (p.Arg2496His) single nucleotide variant Inborn genetic diseases [RCV005391236] Chr21:46427788 [GRCh38]
Chr21:47847702 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.4930A>T (p.Thr1644Ser) single nucleotide variant Inborn genetic diseases [RCV005391242] Chr21:46401689 [GRCh38]
Chr21:47821603 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8956G>C (p.Ala2986Pro) single nucleotide variant Inborn genetic diseases [RCV005397618] Chr21:46436108 [GRCh38]
Chr21:47856021 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7141G>A (p.Ala2381Thr) single nucleotide variant Inborn genetic diseases [RCV005391238] Chr21:46422086 [GRCh38]
Chr21:47842000 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.8429A>C (p.Lys2810Thr) single nucleotide variant Inborn genetic diseases [RCV005391255] Chr21:46431893 [GRCh38]
Chr21:47851807 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.7093C>T (p.Pro2365Ser) single nucleotide variant Inborn genetic diseases [RCV005397619] Chr21:46422038 [GRCh38]
Chr21:47841952 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1886C>A (p.Ser629Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005409287] Chr21:46355576 [GRCh38]
Chr21:47775491 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_006031.6(PCNT):c.3551G>A (p.Gly1184Glu) single nucleotide variant Inborn genetic diseases [RCV005391245] Chr21:46388828 [GRCh38]
Chr21:47808743 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.5921C>T (p.Ala1974Val) single nucleotide variant Inborn genetic diseases [RCV005391247] Chr21:46411994 [GRCh38]
Chr21:47831908 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.3642_3840+152del deletion Microcephalic osteodysplastic primordial dwarfism type II [RCV005420461] Chr21:46389233..46389583 [GRCh38]
Chr21:47809148..47809498 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.5744C>T (p.Ala1915Val) single nucleotide variant Inborn genetic diseases [RCV005391252] Chr21:46411817 [GRCh38]
Chr21:47831731 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_006031.6(PCNT):c.1549G>T (p.Glu517Ter) single nucleotide variant Microcephalic osteodysplastic primordial dwarfism type II [RCV005362321] Chr21:46353196 [GRCh38]
Chr21:47773110 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_006031.6(PCNT):c.2315T>C (p.Leu772Pro) single nucleotide variant Inborn genetic diseases [RCV005391241] Chr21:46363640 [GRCh38]
Chr21:47783555 [GRCh37]
Chr21:21q22.3		 uncertain significance
miRNA Target Status (No longer updated)

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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407306948GWAS955924_Htype 2 diabetes mellitus QTL GWAS955924 (human)2e-09type 2 diabetes mellitus214634738146347382Human
406938564GWAS587540_Hbreast carcinoma QTL GWAS587540 (human)6e-09breast carcinoma214636030846360309Human
628703612GWAS2611841_Hformimidoyltransferase-cyclodeaminase measurement QTL GWAS2611841 (human)8e-42formimidoyltransferase-cyclodeaminase measurement214637913346379134Human
598091808GWAS1811107_Hserum albumin amount QTL GWAS1811107 (human)8e-09serum albumin amount214636759646367597Human
407275213GWAS924189_Hbody height QTL GWAS924189 (human)4e-39body height214636214946362150Human
628903280GWAS2811509_Htype 2 diabetes mellitus QTL GWAS2811509 (human)2e-11type 2 diabetes mellitus214635252546352526Human
598141748GWAS1828476_Hbone tissue density QTL GWAS1828476 (human)1e-300bone tissue density214636048546360486Human
406937298GWAS586274_Hheel bone mineral density QTL GWAS586274 (human)9e-09heel bone mineral density214642309046423091Human
597111044GWAS1207118_Hviral load QTL GWAS1207118 (human)1e-16viral load214643019346430194Human
628859752GWAS2767981_Hasthma QTL GWAS2767981 (human)1e-08asthma214637498346374984Human
598141746GWAS1828474_Hbone tissue density QTL GWAS1828474 (human)1e-300bone tissue density214633978746339788Human
598141747GWAS1828475_Hbone tissue density QTL GWAS1828475 (human)1e-300bone tissue density214634555246345553Human
628447331GWAS2355560_Hheel bone mineral density QTL GWAS2355560 (human)8e-10bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)214643324446433245Human
406906200GWAS555176_Hbreast carcinoma QTL GWAS555176 (human)0.0000004breast carcinoma214636030846360309Human
407330271GWAS979247_Hschizophrenia QTL GWAS979247 (human)0.000001schizophrenia214636128346361284Human
407012056GWAS661032_Hneutrophil count QTL GWAS661032 (human)6e-11neutrophil count214640386946403870Human
407108697GWAS757673_Hheel bone mineral density QTL GWAS757673 (human)8e-10heel bone mineral density214643324446433245Human
407362394GWAS1011370_Hleukocyte count QTL GWAS1011370 (human)2e-09leukocyte count214636024646360247Human
598069432GWAS1788731_Hbody height QTL GWAS1788731 (human)4e-39body height214636214946362150Human
598086018GWAS1805317_Hbone density QTL GWAS1805317 (human)1e-300bone density214634555246345553Human
628502610GWAS2410839_Hbone tissue density QTL GWAS2410839 (human)1e-300bone tissue density214636048546360486Human
598086019GWAS1805318_Hbone density QTL GWAS1805318 (human)1e-300bone density214636048546360486Human
597537723GWAS1633797_Hbody height QTL GWAS1633797 (human)6e-12body height214644271146442712Human
628502608GWAS2410837_Hbone tissue density QTL GWAS2410837 (human)1e-300bone tissue density214633978746339788Human
598086017GWAS1805316_Hbone density QTL GWAS1805316 (human)1e-300bone density214633978746339788Human
628502609GWAS2410838_Hbone tissue density QTL GWAS2410838 (human)1e-300bone tissue density214634555246345553Human
628877651GWAS2785880_Heducational attainment QTL GWAS2785880 (human)3e-08educational attainment214642324946423250Human
597332019GWAS1428093_Hasthma QTL GWAS1428093 (human)1e-08asthma214637498346374984Human
628488412GWAS2396641_Hheel bone mineral density QTL GWAS2396641 (human)9e-09bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)214642309046423091Human
629001175GWAS2909404_Hbody height QTL GWAS2909404 (human)4e-39body height214636214946362150Human
597265973GWAS1362047_Hschizophrenia QTL GWAS1362047 (human)0.000001schizophrenia214636128346361284Human
598081673GWAS1800972_Hleukocyte quantity QTL GWAS1800972 (human)2e-09leukocyte quantity214636024646360247Human
597215272GWAS1311346_Hbone density QTL GWAS1311346 (human)1e-300bone density214636048546360486Human
597183272GWAS1279346_H2-hydroxyglutarate measurement QTL GWAS1279346 (human)2e-082-hydroxyglutarate measurement214636598446365985Human
407253751GWAS902727_Hserum albumin measurement QTL GWAS902727 (human)8e-09serum albumin measurement214636759646367597Human
628496583GWAS2404812_Hviral load QTL GWAS2404812 (human)1e-16response to viral infection trait (VT:0010439)214643019346430194Human
406956274GWAS605250_H2-hydroxyglutarate measurement QTL GWAS605250 (human)2e-082-hydroxyglutarate measurement214636598446365985Human
598056721GWAS1776020_Hbody height QTL GWAS1776020 (human)6e-12body height214644271146442712Human
597086624GWAS1182698_Htype 2 diabetes mellitus QTL GWAS1182698 (human)2e-09type 2 diabetes mellitus214634738146347382Human
616547463GWAS1944046_Hformimidoyltransferase-cyclodeaminase measurement QTL GWAS1944046 (human)8e-42formimidoyltransferase-cyclodeaminase measurement214637913346379134Human
628753606GWAS2661835_HAlzheimer disease, family history of Alzheimer’s disease QTL GWAS2661835 (human)3e-11Alzheimer disease, family history of Alzheimer’s disease214639005446390055Human
597321509GWAS1417583_Heducational attainment QTL GWAS1417583 (human)3e-08educational attainment214642324946423250Human
407228037GWAS877013_Hbone density QTL GWAS877013 (human)1e-300bone density214636048546360486Human
407228036GWAS877012_Hbone density QTL GWAS877012 (human)1e-300bone density214634555246345553Human
628932029GWAS2840258_Hbody height QTL GWAS2840258 (human)6e-12body height214644271146442712Human
597034580GWAS1130654_Hheel bone mineral density QTL GWAS1130654 (human)4e-10heel bone mineral density214642309046423091Human
597083092GWAS1179166_Hneutrophil count QTL GWAS1179166 (human)6e-11neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)214640386946403870Human
628861886GWAS2770115_Hcolorectal cancer QTL GWAS2770115 (human)5e-13colorectal cancer214635252546352526Human
407228035GWAS877011_Hbone density QTL GWAS877011 (human)1e-300bone density214633978746339788Human
597023069GWAS1119143_Hbreast carcinoma QTL GWAS1119143 (human)0.0000004breast carcinoma214636030846360309Human
597215056GWAS1311130_Hbone density QTL GWAS1311130 (human)1e-300bone density214633978746339788Human
597215057GWAS1311131_Hbone density QTL GWAS1311131 (human)1e-300bone density214634555246345553Human
597230806GWAS1326880_Hheel bone mineral density QTL GWAS1326880 (human)8e-10heel bone mineral density214643324446433245Human
406915729GWAS564705_Hasthma QTL GWAS564705 (human)1e-08asthma214637498346374984Human
597169356GWAS1265430_Hserum albumin measurement QTL GWAS1265430 (human)8e-09serum albumin measurement214636759646367597Human
628607395GWAS2515624_Hserum albumin amount QTL GWAS2515624 (human)8e-09serum albumin amount214636759646367597Human
407223199GWAS872175_Heducational attainment QTL GWAS872175 (human)3e-08educational attainment214642324946423250Human
628891430GWAS2799659_Hschizophrenia QTL GWAS2799659 (human)0.000001schizophrenia214636128346361284Human
626452493GWAS2266426_Hserum albumin amount QTL GWAS2266426 (human)2e-08serum albumin amount214641092946410930Human
407260184GWAS909160_Hviral load QTL GWAS909160 (human)1e-16viral load214643019346430194Human
597582718GWAS1639578_Htype 2 diabetes mellitus QTL GWAS1639578 (human)2e-11type 2 diabetes mellitus214635252546352526Human
597310078GWAS1406152_Hleukocyte count QTL GWAS1406152 (human)2e-09leukocyte count214636024646360247Human
628870431GWAS2778660_H2-hydroxyglutarate measurement QTL GWAS2778660 (human)2e-082-hydroxyglutarate measurement214636598446365985Human
628947476GWAS2855705_Hserum albumin amount QTL GWAS2855705 (human)2e-08serum albumin amount214641092946410930Human
406927144GWAS576120_Hbody height QTL GWAS576120 (human)6e-12body height214644271146442712Human
597118460GWAS1214534_Hbreast carcinoma QTL GWAS1214534 (human)6e-09breast carcinoma214636030846360309Human
628629013GWAS2537242_Hheel bone mineral density QTL GWAS2537242 (human)4e-10bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)214642309046423091Human
406938287GWAS587263_Hheel bone mineral density QTL GWAS587263 (human)4e-10heel bone mineral density214642309046423091Human
597358325GWAS1454399_Hbody height QTL GWAS1454399 (human)4e-39body height214636214946362150Human
628814473GWAS2722702_Hleukocyte quantity QTL GWAS2722702 (human)2e-09leukocyte quantity214636024646360247Human
597137772GWAS1233846_Hcolorectal cancer QTL GWAS1233846 (human)5e-13colorectal cancer214635252546352526Human
628784769GWAS2692998_Hbreast carcinoma QTL GWAS2692998 (human)6e-09mammary gland integrity trait (VT:0010552)214636030846360309Human
406902589GWAS551565_Hcolorectal cancer QTL GWAS551565 (human)5e-13colorectal cancer214635252546352526Human
617102774GWAS2120273_HAlzheimer disease, family history of Alzheimer’s disease QTL GWAS2120273 (human)3e-11Alzheimer disease, family history of Alzheimer’s disease214639005446390055Human

Markers in Region
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


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 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_017028363 (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
  CP068257 (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

Ensembl Acc Id: ENST00000359568   ⟹   ENSP00000352572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,324,156 - 46,445,769 (+)Ensembl
Ensembl Acc Id: ENST00000418394   ⟹   ENSP00000404708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,425,833 - 46,445,690 (+)Ensembl
Ensembl Acc Id: ENST00000465356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,440,994 - 46,443,172 (+)Ensembl
Ensembl Acc Id: ENST00000466474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,324,124 - 46,389,635 (+)Ensembl
Ensembl Acc Id: ENST00000480896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,324,888 - 46,445,769 (+)Ensembl
Ensembl Acc Id: ENST00000482575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,431,259 - 46,432,035 (+)Ensembl
Ensembl Acc Id: ENST00000483844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,348,239 - 46,353,326 (+)Ensembl
Ensembl Acc Id: ENST00000490468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,324,141 - 46,349,800 (+)Ensembl
Ensembl Acc Id: ENST00000695525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,324,143 - 46,389,755 (+)Ensembl
Ensembl Acc Id: ENST00000695526   ⟹   ENSP00000511988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,324,161 - 46,363,538 (+)Ensembl
Ensembl Acc Id: ENST00000695527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,411,729 - 46,445,751 (+)Ensembl
Ensembl Acc Id: ENST00000695528   ⟹   ENSP00000511990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,411,900 - 46,445,751 (+)Ensembl
Ensembl Acc Id: ENST00000695529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,411,900 - 46,445,751 (+)Ensembl
Ensembl Acc Id: ENST00000695530   ⟹   ENSP00000511991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,425,833 - 46,445,740 (+)Ensembl
Ensembl Acc Id: ENST00000695531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,426,700 - 46,445,751 (+)Ensembl
Ensembl Acc Id: ENST00000695532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,426,700 - 46,445,752 (+)Ensembl
Ensembl Acc Id: ENST00000695533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,428,645 - 46,445,751 (+)Ensembl
Ensembl Acc Id: ENST00000695534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,430,834 - 46,445,751 (+)Ensembl
Ensembl Acc Id: ENST00000695535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,435,678 - 46,445,688 (+)Ensembl
Ensembl Acc Id: ENST00000695536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,436,676 - 46,445,751 (+)Ensembl
Ensembl Acc Id: ENST00000695537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,439,747 - 46,445,751 (+)Ensembl
Ensembl Acc Id: ENST00000695558   ⟹   ENSP00000512015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,324,156 - 46,445,769 (+)Ensembl
Ensembl Acc Id: ENST00000703224   ⟹   ENSP00000515242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,324,156 - 46,445,769 (+)Ensembl
Ensembl Acc Id: ENST00000703225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,324,888 - 46,346,208 (+)Ensembl
Ensembl Acc Id: ENST00000703226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2146,428,645 - 46,445,751 (+)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
T2T-CHM13v2.02144,710,019 - 44,831,895 (+)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
T2T-CHM13v2.02144,709,501 - 44,831,895 (+)NCBI
Sequence:
RefSeq Acc Id: NP_006022   ⟸   NM_006031
- Peptide Label: isoform 1
- UniProtKB: O43152 (UniProtKB/Swiss-Prot),   Q7Z7C9 (UniProtKB/Swiss-Prot),   O95613 (UniProtKB/Swiss-Prot),   A0A8Q3SHZ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001302458   ⟸   NM_001315529
- Peptide Label: isoform 2
- UniProtKB: A0A8Q3SHZ3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000352572   ⟸   ENST00000359568
Ensembl Acc Id: ENSP00000404708   ⟸   ENST00000418394
Ensembl Acc Id: ENSP00000511991   ⟸   ENST00000695530
Ensembl Acc Id: ENSP00000511988   ⟸   ENST00000695526
Ensembl Acc Id: ENSP00000512015   ⟸   ENST00000695558
Ensembl Acc Id: ENSP00000511990   ⟸   ENST00000695528
Ensembl Acc Id: ENSP00000515242   ⟸   ENST00000703224
Protein Domains
Pericentrin/AKAP-450 centrosomal targeting

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95613-F1-model_v2 AlphaFold O95613 1-1400 view protein structure
AF-O95613-F2-model_v2 AlphaFold O95613 201-1600 view protein structure
AF-O95613-F3-model_v2 AlphaFold O95613 401-1800 view protein structure
AF-O95613-F4-model_v2 AlphaFold O95613 601-2000 view protein structure
AF-O95613-F5-model_v2 AlphaFold O95613 801-2200 view protein structure
AF-O95613-F6-model_v2 AlphaFold O95613 1001-2400 view protein structure
AF-O95613-F7-model_v2 AlphaFold O95613 1201-2600 view protein structure
AF-O95613-F8-model_v2 AlphaFold O95613 1401-2800 view protein structure
AF-O95613-F9-model_v2 AlphaFold O95613 1601-3000 view protein structure
AF-O95613-F10-model_v2 AlphaFold O95613 1801-3200 view protein structure
AF-O95613-F11-model_v2 AlphaFold O95613 2001-3336 view protein structure

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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16068 AgrOrtholog
COSMIC PCNT COSMIC
Ensembl Genes ENSG00000160299 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000359568 ENTREZGENE
  ENST00000359568.10 UniProtKB/Swiss-Prot
  ENST00000480896 ENTREZGENE
  ENST00000480896.5 UniProtKB/Swiss-Prot
GTEx ENSG00000160299 GTEx
HGNC ID HGNC:16068 ENTREZGENE
Human Proteome Map PCNT Human Proteome Map
InterPro AKAP9/Pericentrin UniProtKB/Swiss-Prot
  PACT_domain UniProtKB/Swiss-Prot
KEGG Report hsa:5116 UniProtKB/Swiss-Prot
NCBI Gene 5116 ENTREZGENE
OMIM 605925 OMIM
PANTHER PERICENTRIN UniProtKB/Swiss-Prot
  PTHR44981 UniProtKB/Swiss-Prot
Pfam PACT_coil_coil UniProtKB/Swiss-Prot
PharmGKB PA33079 PharmGKB
UniProt A0A8Q3SHV6_HUMAN UniProtKB/TrEMBL
  A0A8Q3SHY5_HUMAN UniProtKB/TrEMBL
  A0A8Q3SHZ3 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3SHZ8_HUMAN UniProtKB/TrEMBL
  A0A8Q3SI04_HUMAN UniProtKB/TrEMBL
  A0A8V8TQ91_HUMAN UniProtKB/TrEMBL
  A0A8V8TQT6_HUMAN UniProtKB/TrEMBL
  H7C2A3_HUMAN UniProtKB/TrEMBL
  O43152 ENTREZGENE
  O95613 ENTREZGENE, UniProtKB/Swiss-Prot
  Q7Z7C9 ENTREZGENE
  Q8IWJ7_HUMAN UniProtKB/TrEMBL
UniProt Secondary O43152 UniProtKB/Swiss-Prot
  Q7Z7C9 UniProtKB/Swiss-Prot