WDR19 (WD repeat domain 19) - Rat Genome Database

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Gene: WDR19 (WD repeat domain 19) Homo sapiens
Analyze
Symbol: WDR19
Name: WD repeat domain 19
RGD ID: 1353133
HGNC Page HGNC:18340
Description: Involved in protein localization to ciliary membrane and protein-containing complex assembly. Acts upstream of or within intraciliary retrograde transport. Part of intraciliary transport particle A. Implicated in several diseases, including Caroli disease; Senior-Loken syndrome; asphyxiating thoracic dystrophy 5; cranioectodermal dysplasia 4; and nephronophthisis 13.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATD5; CED4; CFAP66; DYF-2; FAP66; FLJ23127; IFT144; intraflagellar transport 144 homolog; KIAA1638; NPHP13; ORF26; Oseg6; PWDMP; SPGF72; SRTD5; WD repeat membrane protein PWDMP; WD repeat-containing protein 19
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-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
GRCh38439,182,529 - 39,285,810 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl439,182,504 - 39,285,810 (+)EnsemblGRCh38hg38GRCh38
GRCh37439,184,149 - 39,287,430 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36438,860,419 - 38,963,825 (+)NCBINCBI36Build 36hg18NCBI36
Build 34439,006,589 - 39,109,995NCBI
Celera439,621,888 - 39,725,263 (+)NCBICelera
Cytogenetic Map4p14NCBI
HuRef438,508,923 - 38,612,720 (+)NCBIHuRef
CHM1_1439,183,560 - 39,287,052 (+)NCBICHM1_1
T2T-CHM13v2.0439,152,167 - 39,255,444 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal clavicle morphology  (IAGP)
Abnormal dental enamel morphology  (IAGP)
Abnormal diaphysis morphology  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal metaphysis morphology  (IAGP)
Abnormal pelvic girdle bone morphology  (IAGP)
Abnormal renal morphology  (IAGP)
Abnormal rib morphology  (IAGP)
Abnormal sternum morphology  (IAGP)
Abnormal toenail morphology  (IAGP)
Abnormality of bone mineral density  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the liver  (IAGP)
Absent sperm axoneme central pair complex  (IAGP)
Absent sperm flagella  (IAGP)
Acetabular spurs  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the lungs  (IAGP)
Ataxia  (IAGP)
Attenuation of retinal blood vessels  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bone marrow hypocellularity  (IAGP)
Brachydactyly  (IAGP)
Broad distal phalanx of finger  (IAGP)
Broad long bone diaphyses  (IAGP)
Broad phalanx of the toes  (IAGP)
Cataract  (IAGP)
Childhood onset  (IAGP)
Chronic kidney disease  (IAGP)
Chronic tubulointerstitial nephritis  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coiled sperm flagella  (IAGP)
Cone dystrophy  (IAGP)
Cone-shaped epiphysis  (IAGP)
Congenital hepatic fibrosis  (IAGP)
Congenital onset  (IAGP)
Craniosynostosis  (IAGP)
Cutaneous finger syndactyly  (IAGP)
Cutis laxa  (IAGP)
Decreased nasal nitric oxide  (IAGP)
Dolichocephaly  (IAGP)
Elevated circulating creatinine concentration  (IAGP)
Epicanthus  (IAGP)
Everted lower lip vermilion  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fetal onset  (IAGP)
Finger syndactyly  (IAGP)
Frontal bossing  (IAGP)
Full cheeks  (IAGP)
Global developmental delay  (IAGP)
Global glomerulosclerosis  (IAGP)
Glomerular sclerosis  (IAGP)
Glomerular subepithelial immune-complex deposits  (IAGP)
Glomerulonephritis  (IAGP)
Growth delay  (IAGP)
Hepatic cysts  (IAGP)
Hepatomegaly  (IAGP)
High hypermetropia  (IAGP)
Hip dysplasia  (IAGP)
Hypermetropia  (IAGP)
Hypertension  (IAGP)
Hypodontia  (IAGP)
Hypotelorism  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intrahepatic bile duct dilatation  (IAGP)
Irregularly shaped sperm tail  (IAGP)
Joint hypermobility  (IAGP)
Juvenile onset  (IAGP)
Macular atrophy  (IAGP)
Male infertility  (IAGP)
Metaphyseal widening  (IAGP)
Microdontia  (IAGP)
Micromelia  (IAGP)
Mild proteinuria  (IAGP)
Multilamellation of medullary peritubular capillary basement membranes  (IAGP)
Myopia  (IAGP)
Narrow chest  (IAGP)
Neonatal hypotonia  (IAGP)
Nephronophthisis  (IAGP)
Nephropathy  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Onychogryposis  (IAGP)
Osteoporosis  (IAGP)
Pallor  (IAGP)
Pancreatic cysts  (IAGP)
Pectus excavatum  (IAGP)
Pes valgus  (IAGP)
Polydactyly  (IAGP)
Postaxial foot polydactyly  (IAGP)
Postaxial hand polydactyly  (IAGP)
Premature ovarian insufficiency  (IAGP)
Progressive visual loss  (IAGP)
Prominent occiput  (IAGP)
Proteinuria  (IAGP)
Protruding ear  (IAGP)
Recurrent pneumonia  (IAGP)
Reduced progressive sperm motility  (IAGP)
Reduced visual acuity  (IAGP)
Renal hypoplasia  (IAGP)
Renal insufficiency  (IAGP)
Renal interstitial fibrosis  (IAGP)
Respiratory insufficiency  (IAGP)
Restrictive ventilatory defect  (IAGP)
Retinal dystrophy  (IAGP)
Rhizomelia  (IAGP)
Rod-cone dystrophy  (IAGP)
Sagittal craniosynostosis  (IAGP)
Short distal phalanx of finger  (IAGP)
Short foot  (IAGP)
Short iliac bones  (IAGP)
Short sperm flagella  (IAGP)
Short stature  (IAGP)
Short thorax  (IAGP)
Skeletal dysplasia  (IAGP)
Smooth philtrum  (IAGP)
Sparse hair  (IAGP)
Stage 5 chronic kidney disease  (IAGP)
Subdural hygroma  (IAGP)
Supernumerary nipple  (IAGP)
Taurodontia  (IAGP)
Thin upper lip vermilion  (IAGP)
Thin vermilion border  (IAGP)
Thoracic dysplasia  (IAGP)
Toe syndactyly  (IAGP)
Vascular dilatation  (IAGP)
Visual impairment  (IAGP)
Wide nasal bridge  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies. Ashe A, etal., Hum Mol Genet. 2012 Apr 15;21(8):1808-23. doi: 10.1093/hmg/ddr613. Epub 2012 Jan 6.
2. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Bredrup C, etal., Am J Hum Genet. 2011 Nov 11;89(5):634-43. doi: 10.1016/j.ajhg.2011.10.001. Epub 2011 Oct 20.
3. WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. Coussa RG, etal., Clin Genet. 2013 Aug;84(2):150-9. doi: 10.1111/cge.12196.
4. Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. Lee JM, etal., Pediatr Nephrol. 2015 Sep;30(9):1451-8. doi: 10.1007/s00467-015-3068-8. Epub 2015 Mar 1.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. Hepatorenal fibrocystic diseases in children. Park E, etal., Pediatr Nephrol. 2016 Jan;31(1):113-9. doi: 10.1007/s00467-015-3185-4. Epub 2015 Aug 11.
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
Additional References at PubMed
PMID:8125298   PMID:10997877   PMID:12477932   PMID:12906858   PMID:14702039   PMID:15489334   PMID:18316561   PMID:20301743   PMID:20889716   PMID:21873635   PMID:23559409   PMID:24027799  
PMID:24504730   PMID:24684796   PMID:26186194   PMID:27173435   PMID:27336129   PMID:27806291   PMID:27932497   PMID:28298427   PMID:28514442   PMID:28621010   PMID:29220510   PMID:29507755  
PMID:30652415   PMID:31182584   PMID:32323121   PMID:32393512   PMID:32513696   PMID:33187986   PMID:33517396   PMID:33957083   PMID:33961781   PMID:35914814   PMID:36833218   PMID:37783116  
PMID:38334954  


Genomics

Comparative Map Data
WDR19
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38439,182,529 - 39,285,810 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl439,182,504 - 39,285,810 (+)EnsemblGRCh38hg38GRCh38
GRCh37439,184,149 - 39,287,430 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36438,860,419 - 38,963,825 (+)NCBINCBI36Build 36hg18NCBI36
Build 34439,006,589 - 39,109,995NCBI
Celera439,621,888 - 39,725,263 (+)NCBICelera
Cytogenetic Map4p14NCBI
HuRef438,508,923 - 38,612,720 (+)NCBIHuRef
CHM1_1439,183,560 - 39,287,052 (+)NCBICHM1_1
T2T-CHM13v2.0439,152,167 - 39,255,444 (+)NCBIT2T-CHM13v2.0
Wdr19
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39565,357,039 - 65,417,758 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl565,357,039 - 65,417,758 (+)EnsemblGRCm39 Ensembl
GRCm38565,199,696 - 65,260,415 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl565,199,696 - 65,260,415 (+)EnsemblGRCm38mm10GRCm38
MGSCv37565,590,935 - 65,651,654 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36565,478,847 - 65,539,550 (+)NCBIMGSCv36mm8
Celera562,476,346 - 62,537,628 (+)NCBICelera
Cytogenetic Map5C3.1NCBI
cM Map533.58NCBI
Wdr19
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81443,396,130 - 43,460,012 (-)NCBIGRCr8
mRatBN7.21443,042,474 - 43,106,337 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1443,042,478 - 43,106,288 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1443,398,120 - 43,460,461 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01444,698,061 - 44,760,412 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01443,178,194 - 43,240,550 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01444,705,012 - 44,767,120 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1444,705,012 - 44,767,120 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01444,519,192 - 44,580,950 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41445,744,198 - 45,807,441 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11445,744,874 - 45,809,905 (-)NCBI
Celera1442,187,689 - 42,251,374 (-)NCBICelera
Cytogenetic Map14p11NCBI
Wdr19
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554438,053,847 - 8,123,110 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554438,053,847 - 8,122,918 (-)NCBIChiLan1.0ChiLan1.0
WDR19
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2339,371,162 - 39,477,207 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1439,563,751 - 39,669,617 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0433,511,283 - 33,616,946 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1439,365,204 - 39,470,074 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl439,365,276 - 39,462,903 (+)Ensemblpanpan1.1panPan2
WDR19
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1373,115,560 - 73,213,823 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl373,137,250 - 73,221,512 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha375,617,214 - 75,774,265 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0373,844,096 - 74,001,187 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl373,908,855 - 74,001,228 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1373,110,186 - 73,267,232 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0373,302,684 - 73,413,870 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0373,643,183 - 73,800,247 (-)NCBIUU_Cfam_GSD_1.0
Wdr19
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528539,361,717 - 39,434,642 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364826,863,571 - 6,937,979 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364826,863,592 - 6,937,810 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WDR19
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl830,463,862 - 30,553,703 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1830,453,969 - 30,553,699 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2832,078,753 - 32,168,583 (+)NCBISscrofa10.2Sscrofa10.2susScr3
WDR19
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12711,019,897 - 11,113,760 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2711,018,827 - 11,113,666 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604757,431,811 - 57,525,579 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Wdr19
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248407,624,687 - 7,699,997 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248407,624,744 - 7,702,283 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in WDR19
992 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001851417]|Jeune thoracic dystrophy [RCV000516052] Chr4:39205726 [GRCh38]
Chr4:39207346 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic
NM_025132.4(WDR19):c.1483G>C (p.Gly495Arg) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001316218]|Jeune thoracic dystrophy [RCV000516069] Chr4:39224887 [GRCh38]
Chr4:39226507 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic|uncertain significance
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000987440]|Asphyxiating thoracic dystrophy 5 [RCV001047050]|Connective tissue disorder [RCV002276570]|Cranioectodermal dysplasia 4 [RCV000023681]|Renal dysplasia and retinal aplasia [RCV003324499]|Senior-Loken syndrome 8 [RCV000169775]|WDR19-related disorder [RCV004532400]|not provided [RCV001356848] Chr4:39231943 [GRCh38]
Chr4:39233563 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic|not provided
NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001857362]|Cranioectodermal dysplasia 4 [RCV000023682] Chr4:39268040 [GRCh38]
Chr4:39269660 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.20T>C (p.Leu7Pro) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000023683] Chr4:39185739 [GRCh38]
Chr4:39187359 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.1034T>G (p.Val345Gly) single nucleotide variant Nephronophthisis 13 [RCV000023684] Chr4:39215913 [GRCh38]
Chr4:39217533 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.3068dup (p.Tyr1023Ter) duplication Nephronophthisis 13 [RCV000023685] Chr4:39255913..39255914 [GRCh38]
Chr4:39257533..39257534 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.781dup (p.Thr261fs) duplication Asphyxiating thoracic dystrophy 5 [RCV001231474]|Asphyxiating thoracic dystrophy 5 [RCV004017660]|Jeune thoracic dystrophy [RCV000515920]|Nephronophthisis 13 [RCV000850616]|WDR19-related disorder [RCV000779441]|not provided [RCV003139712] Chr4:39205626..39205627 [GRCh38]
Chr4:39207246..39207247 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic|uncertain significance
NM_025132.4(WDR19):c.746T>C (p.Phe249Ser) single nucleotide variant Jeune thoracic dystrophy [RCV000515976] Chr4:39205592 [GRCh38]
Chr4:39207212 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001204687]|Asphyxiating thoracic dystrophy 5 [RCV002476032]|Jeune thoracic dystrophy [RCV000515807] Chr4:39205663 [GRCh38]
Chr4:39207283 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic|uncertain significance
NM_025132.4(WDR19):c.3716+1G>A single nucleotide variant Jeune thoracic dystrophy [RCV000515837] Chr4:39274959 [GRCh38]
Chr4:39276579 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic
NM_025132.4(WDR19):c.2239A>G (p.Ile747Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000542232]|Asphyxiating thoracic dystrophy 5 [RCV001150601]|Cranioectodermal dysplasia 4 [RCV001150602] Chr4:39232258 [GRCh38]
Chr4:39233878 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.3(WDR19):c.2254-503A>T single nucleotide variant Lung cancer [RCV000094724] Chr4:39234263 [GRCh38]
Chr4:39235883 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.3(WDR19):c.2646-236G>T single nucleotide variant Lung cancer [RCV000094725] Chr4:39245133 [GRCh38]
Chr4:39246753 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.3(WDR19):c.3184-3857C>G single nucleotide variant Lung cancer [RCV000094726] Chr4:39262206 [GRCh38]
Chr4:39263826 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1428C>T (p.Cys476=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003793544] Chr4:39218054 [GRCh38]
Chr4:39219674 [GRCh37]
Chr4:38896069 [NCBI36]
Chr4:4p14		 likely benign|not provided
NM_025132.4(WDR19):c.1430G>A (p.Arg477His) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001317865]|Asphyxiating thoracic dystrophy 5 [RCV002490724]|Inborn genetic diseases [RCV004019576]|WDR19-related disorder [RCV004734640]|not provided [RCV000082250] Chr4:39218056 [GRCh38]
Chr4:39219676 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3400G>A (p.Ala1134Thr) single nucleotide variant not provided [RCV000082251] Chr4:39270017 [GRCh38]
Chr4:39271637 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.641dup (p.Leu214fs) duplication Asphyxiating thoracic dystrophy 5 [RCV001854542]|Asphyxiating thoracic dystrophy 5 [RCV002498492]|Senior-Loken syndrome 8 [RCV000115010] Chr4:39205183..39205184 [GRCh38]
Chr4:39206803..39206804 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.1477G>C (p.Asp493His) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001854543]|Nephronophthisis 13 [RCV001281114]|Senior-Loken syndrome 8 [RCV000115011]|not provided [RCV001753491] Chr4:39218103 [GRCh38]
Chr4:39219723 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic|uncertain significance
NM_025132.4(WDR19):c.682C>T (p.Gln228Ter) single nucleotide variant Nephronophthisis 13 [RCV000115012] Chr4:39205232 [GRCh38]
Chr4:39206852 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001854544]|Asphyxiating thoracic dystrophy 5 [RCV002477273]|Nephronophthisis 13 [RCV000115013]|Senior-Loken syndrome 8 [RCV001281118]|not provided [RCV000788500] Chr4:39274945 [GRCh38]
Chr4:39276565 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000653250]|Cranioectodermal dysplasia 4 [RCV003224150]|Cranioectodermal dysplasia [RCV000754960]|Leber congenital amaurosis [RCV001262101]|Nephronophthisis 13 [RCV000850617]|Nephronophthisis 13 [RCV003224149]|Senior-Loken syndrome 8 [RCV000115014]|not provided [RCV000433622] Chr4:39273029 [GRCh38]
Chr4:39274649 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic|uncertain significance
NM_025132.4(WDR19):c.3565+1G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001212609]|Connective tissue disorder [RCV002277157]|Jeune thoracic dystrophy [RCV000516054]|Nephronophthisis 13 [RCV001797626]|Senior-Loken syndrome 8 [RCV000115015]|not provided [RCV000681868] Chr4:39273062 [GRCh38]
Chr4:39274682 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic
NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002515238]|Nephronophthisis 13 [RCV003989482]|not provided [RCV000171376] Chr4:39253193 [GRCh38]
Chr4:39254813 [GRCh37]
Chr4:4p14		 likely pathogenic|uncertain significance|no classifications from unflagged records
NM_025132.4(WDR19):c.1093A>G (p.Thr365Ala) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001302932]|Asphyxiating thoracic dystrophy 5 [RCV002486167] Chr4:39215972 [GRCh38]
Chr4:39217592 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met) single nucleotide variant Cranioectodermal dysplasia [RCV000256446]|Senior-Loken syndrome 8 [RCV000985142] Chr4:39218060 [GRCh38]
Chr4:39219680 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh38/hg38 4p14(chr4:39222108-39491610)x3 copy number gain See cases [RCV000141574] Chr4:39222108..39491610 [GRCh38]
Chr4:39223728..39493230 [GRCh37]
Chr4:38900123..39169625 [NCBI36]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.1845T>C (p.Asn615=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002056049]|not provided [RCV000154139] Chr4:39228553 [GRCh38]
Chr4:39230173 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000278329]|Asphyxiating thoracic dystrophy 5 [RCV001083264]|Connective tissue disorder [RCV002277304]|Cranioectodermal dysplasia 4 [RCV000317115]|Inborn genetic diseases [RCV002516102]|WDR19-related disorder [RCV004532742]|not provided [RCV000723861]|not specified [RCV000154140] Chr4:39253208 [GRCh38]
Chr4:39254828 [GRCh37]
Chr4:4p14		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_025132.4(WDR19):c.2364-15_2364-14del deletion Asphyxiating thoracic dystrophy 5 [RCV001518883]|Cranioectodermal dysplasia [RCV000363934]|Jeune thoracic dystrophy [RCV000306929]|not provided [RCV000176229] Chr4:39240262..39240263 [GRCh38]
Chr4:39241882..39241883 [GRCh37]
Chr4:4p14		 benign|uncertain significance
NM_025132.4(WDR19):c.2364-3del deletion Asphyxiating thoracic dystrophy 5 [RCV001078879]|WDR19-related disorder [RCV004539633]|not provided [RCV000176230] Chr4:39240274 [GRCh38]
Chr4:39241894 [GRCh37]
Chr4:4p14		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_025132.4(WDR19):c.203T>A (p.Val68Asp) single nucleotide variant Senior-Loken syndrome 8 [RCV000169776] Chr4:39189694 [GRCh38]
Chr4:39191314 [GRCh37]
Chr4:4p14		 pathogenic|not provided
NM_025132.4(WDR19):c.407-2A>G single nucleotide variant Senior-Loken syndrome 8 [RCV000169777] Chr4:39199476 [GRCh38]
Chr4:39201096 [GRCh37]
Chr4:4p14		 pathogenic|not provided
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001201954]|Connective tissue disorder [RCV002278580]|Cranioectodermal dysplasia [RCV000297589]|Jeune thoracic dystrophy [RCV000263503] Chr4:39269979 [GRCh38]
Chr4:39271599 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3 copy number gain See cases [RCV000240190] Chr4:38532827..49064044 [GRCh37]
Chr4:4p14-11		 pathogenic
NM_025132.4(WDR19):c.2361C>T (p.Phe787=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000399917]|Asphyxiating thoracic dystrophy 5 [RCV001085843]|Connective tissue disorder [RCV002278307]|Cranioectodermal dysplasia 4 [RCV000365966]|not provided [RCV001701934]|not specified [RCV000286180] Chr4:39234873 [GRCh38]
Chr4:39236493 [GRCh37]
Chr4:4p14		 benign|likely benign|uncertain significance
NM_025132.4(WDR19):c.3484-2A>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001851418]|Type IV short rib polydactyly syndrome [RCV000515847] Chr4:39272978 [GRCh38]
Chr4:39274598 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic
NM_025132.4(WDR19):c.56T>G (p.Phe19Cys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001236163]|Cranioectodermal dysplasia 4 [RCV002225112]|Jeune thoracic dystrophy [RCV000754961] Chr4:39185775 [GRCh38]
Chr4:39187395 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.974T>C (p.Leu325Ser) single nucleotide variant Jeune thoracic dystrophy [RCV000754957] Chr4:39215853 [GRCh38]
Chr4:39217473 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3758G>A (p.Cys1253Tyr) single nucleotide variant Jeune thoracic dystrophy [RCV000754958] Chr4:39277061 [GRCh38]
Chr4:39278681 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2563C>T (p.Gln855Ter) single nucleotide variant Jeune thoracic dystrophy [RCV000515874] Chr4:39244470 [GRCh38]
Chr4:39246090 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic
NM_025132.4(WDR19):c.475G>A (p.Asp159Asn) single nucleotide variant Type IV short rib polydactyly syndrome [RCV000515949] Chr4:39199546 [GRCh38]
Chr4:39201166 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic
NM_025132.4(WDR19):c.3800G>A (p.Cys1267Tyr) single nucleotide variant Jeune thoracic dystrophy [RCV000516083] Chr4:39277103 [GRCh38]
Chr4:39278723 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic
NM_025132.4(WDR19):c.291-37C>T single nucleotide variant not provided [RCV000756911] Chr4:39194507 [GRCh38]
Chr4:39196127 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.765G>C (p.Val255=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001473684]|WDR19-related disorder [RCV004540079]|not provided [RCV001811470] Chr4:39205611 [GRCh38]
Chr4:39207231 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2577G>A (p.Ala859=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001146436]|Asphyxiating thoracic dystrophy 5 [RCV001483312]|Cranioectodermal dysplasia 4 [RCV001146435]|not provided [RCV000756914] Chr4:39244484 [GRCh38]
Chr4:39246104 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.1030C>G (p.His344Asp) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001087115]|Connective tissue disorder [RCV002279517]|not provided [RCV000756915] Chr4:39215909 [GRCh38]
Chr4:39217529 [GRCh37]
Chr4:4p14		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_025132.4(WDR19):c.2742T>C (p.Ala914=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001455522]|Asphyxiating thoracic dystrophy 5 [RCV002485961]|WDR19-related disorder [RCV004540080]|not provided [RCV000756916] Chr4:39253158 [GRCh38]
Chr4:39254778 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3707G>A (p.Gly1236Glu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001079233]|not provided [RCV001811471] Chr4:39274949 [GRCh38]
Chr4:39276569 [GRCh37]
Chr4:4p14		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_025132.4(WDR19):c.3918-6A>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000877878]|Asphyxiating thoracic dystrophy 5 [RCV001150826]|Cranioectodermal dysplasia 4 [RCV001144715]|not specified [RCV000239256] Chr4:39278533 [GRCh38]
Chr4:39280153 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.2096G>A (p.Arg699Gln) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000525665]|Asphyxiating thoracic dystrophy 5 [RCV001149092]|Cranioectodermal dysplasia 4 [RCV001149093]|Nephronophthisis 13 [RCV002245014]|Senior-Loken syndrome 8 [RCV002245015]|not provided [RCV001811070] Chr4:39231910 [GRCh38]
Chr4:39233530 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.3383T>C (p.Val1128Ala) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000526409]|Inborn genetic diseases [RCV004024355] Chr4:39270000 [GRCh38]
Chr4:39271620 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1198C>T (p.Leu400=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000302521]|Asphyxiating thoracic dystrophy 5 [RCV000952547]|Cranioectodermal dysplasia 4 [RCV000338763]|not provided [RCV001753728]|not specified [RCV000246087] Chr4:39216159 [GRCh38]
Chr4:39217779 [GRCh37]
Chr4:4p14		 benign|likely benign|uncertain significance
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000320324]|Asphyxiating thoracic dystrophy 5 [RCV000653252]|Cranioectodermal dysplasia 4 [RCV000284017]|Nephronophthisis 13 [RCV002244827]|Senior-Loken syndrome 8 [RCV002244828]|WDR19-related disorder [RCV004544651] Chr4:39224999 [GRCh38]
Chr4:39226619 [GRCh37]
Chr4:4p14		 benign|likely benign|uncertain significance
NM_025132.4(WDR19):c.1134+13T>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002057926]|Cranioectodermal dysplasia [RCV000286504]|Jeune thoracic dystrophy [RCV000380856] Chr4:39216026 [GRCh38]
Chr4:39217646 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.1839A>G (p.Leu613=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000374932]|Asphyxiating thoracic dystrophy 5 [RCV000895575]|Cranioectodermal dysplasia 4 [RCV000280416] Chr4:39228547 [GRCh38]
Chr4:39230167 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.1915A>G (p.Ser639Gly) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000653249]|Asphyxiating thoracic dystrophy 5 [RCV002244687]|Cranioectodermal dysplasia 4 [RCV002244689]|Nephronophthisis 13 [RCV002244688]|Senior-Loken syndrome 8 [RCV002244690]|not provided [RCV001729496]|not specified [RCV000241666] Chr4:39228623 [GRCh38]
Chr4:39230243 [GRCh37]
Chr4:4p14		 benign|likely benign
NM_025132.4(WDR19):c.3868_3871del (p.Thr1290fs) deletion Asphyxiating thoracic dystrophy 5 [RCV003768018]|Jeune thoracic dystrophy [RCV000754962] Chr4:39278156..39278159 [GRCh38]
Chr4:39279776..39279779 [GRCh37]
Chr4:4p14		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000387750]|Asphyxiating thoracic dystrophy 5 [RCV000693524]|Asphyxiating thoracic dystrophy 5 [RCV002487533]|Cranioectodermal dysplasia 4 [RCV000274582]|Inborn genetic diseases [RCV002520239]|not specified [RCV001002087] Chr4:39214639 [GRCh38]
Chr4:39216259 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3261+12G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002058360]|Asphyxiating thoracic dystrophy 5 [RCV002244697]|Cranioectodermal dysplasia 4 [RCV002244699]|Nephronophthisis 13 [RCV002244698]|Senior-Loken syndrome 8 [RCV002244700]|not specified [RCV000241952] Chr4:39266152 [GRCh38]
Chr4:39267772 [GRCh37]
Chr4:4p14		 benign|likely benign
NM_025132.4(WDR19):c.3435C>T (p.Ser1145=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001466711]|Asphyxiating thoracic dystrophy 5 [RCV002503947]|not specified [RCV000246937] Chr4:39270052 [GRCh38]
Chr4:39271672 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1357-10T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000329507]|Asphyxiating thoracic dystrophy 5 [RCV000549539]|Connective tissue disorder [RCV002278219]|Cranioectodermal dysplasia 4 [RCV000274480]|Nephronophthisis 13 [RCV002244681]|Senior-Loken syndrome 8 [RCV002244682]|not provided [RCV001610735]|not specified [RCV000249388] Chr4:39217973 [GRCh38]
Chr4:39219593 [GRCh37]
Chr4:4p14		 benign|likely benign
NM_025132.4(WDR19):c.1357-7G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000365336]|Asphyxiating thoracic dystrophy 5 [RCV000955100]|Cranioectodermal dysplasia 4 [RCV000270771]|WDR19-related disorder [RCV004530411] Chr4:39217976 [GRCh38]
Chr4:39219596 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.1488C>T (p.Val496=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001493915] Chr4:39224892 [GRCh38]
Chr4:39226512 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1629A>G (p.Pro543=) single nucleotide variant not specified [RCV000249693] Chr4:39225033 [GRCh38]
Chr4:39226653 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.-9A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000296000]|Cranioectodermal dysplasia 4 [RCV000350886]|Nephronophthisis 13 [RCV002244679]|Senior-Loken syndrome 8 [RCV002244680]|not provided [RCV001668589]|not specified [RCV000254521] Chr4:39182549 [GRCh38]
Chr4:39184169 [GRCh37]
Chr4:4p14		 benign|likely benign
NM_025132.4(WDR19):c.910G>A (p.Val304Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000333519]|Asphyxiating thoracic dystrophy 5 [RCV000544386]|Connective tissue disorder [RCV002278223]|Cranioectodermal dysplasia 4 [RCV000259570]|Nephronophthisis 13 [RCV002244705]|Senior-Loken syndrome 8 [RCV002244706]|not provided [RCV004717124]|not specified [RCV000247332] Chr4:39214620 [GRCh38]
Chr4:39216240 [GRCh37]
Chr4:4p14		 benign|likely benign
NM_025132.4(WDR19):c.852A>G (p.Ser284=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000263260]|Asphyxiating thoracic dystrophy 5 [RCV001518716]|Cranioectodermal dysplasia 4 [RCV000357935]|Nephronophthisis 13 [RCV002244701]|Senior-Loken syndrome 8 [RCV002244702]|not provided [RCV001689917]|not specified [RCV000252308] Chr4:39205698 [GRCh38]
Chr4:39207318 [GRCh37]
Chr4:4p14		 benign|likely benign
NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001084829]|Asphyxiating thoracic dystrophy 5 [RCV001144400]|Connective tissue disorder [RCV002278221]|Cranioectodermal dysplasia 4 [RCV001144399]|Nephronophthisis 13 [RCV002244685]|Senior-Loken syndrome 8 [RCV002244686]|not provided [RCV001812738]|not specified [RCV000245151] Chr4:39225011 [GRCh38]
Chr4:39226631 [GRCh37]
Chr4:4p14		 benign
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_025132.4(WDR19):c.891C>T (p.Cys297=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000299540]|Asphyxiating thoracic dystrophy 5 [RCV001515541]|Cranioectodermal dysplasia 4 [RCV000354362]|Nephronophthisis 13 [RCV002244703]|Senior-Loken syndrome 8 [RCV002244704]|not provided [RCV001711734]|not specified [RCV000242684] Chr4:39214601 [GRCh38]
Chr4:39216221 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.3183+16A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001515542]|Asphyxiating thoracic dystrophy 5 [RCV002244691]|Cranioectodermal dysplasia 4 [RCV002244693]|Nephronophthisis 13 [RCV002244692]|Senior-Loken syndrome 8 [RCV002244694]|not provided [RCV004715805]|not specified [RCV000245455] Chr4:39257570 [GRCh38]
Chr4:39259190 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000395830]|Asphyxiating thoracic dystrophy 5 [RCV000554837]|Connective tissue disorder [RCV002278222]|Cranioectodermal dysplasia 4 [RCV000307588]|Nephronophthisis 13 [RCV002244695]|Senior-Loken syndrome 8 [RCV002244696]|not provided [RCV001683117]|not specified [RCV000250398] Chr4:39266129 [GRCh38]
Chr4:39267749 [GRCh37]
Chr4:4p14		 benign|likely benign
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000354756]|Asphyxiating thoracic dystrophy 5 [RCV000945504]|Asphyxiating thoracic dystrophy 5 [RCV002502342]|Cranioectodermal dysplasia 4 [RCV000276391]|Nephronophthisis 13 [RCV002244833]|Senior-Loken syndrome 8 [RCV002244834]|not provided [RCV001727700]|not specified [RCV001700078] Chr4:39270033 [GRCh38]
Chr4:39271653 [GRCh37]
Chr4:4p14		 benign|likely benign|uncertain significance
NM_025132.4(WDR19):c.*152G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000277096]|Cranioectodermal dysplasia 4 [RCV000311199] Chr4:39285625 [GRCh38]
Chr4:39287245 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1581C>A (p.Thr527=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001083155]|Asphyxiating thoracic dystrophy 5 [RCV001144398]|Asphyxiating thoracic dystrophy 5 [RCV002494766]|Connective tissue disorder [RCV002278220]|Cranioectodermal dysplasia 4 [RCV001144397]|Nephronophthisis 13 [RCV002244683]|Senior-Loken syndrome 8 [RCV002244684]|not provided [RCV001812737]|not specified [RCV000253150] Chr4:39224985 [GRCh38]
Chr4:39226605 [GRCh37]
Chr4:4p14		 benign|likely benign
NM_025132.4(WDR19):c.2364-15T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000266893]|Asphyxiating thoracic dystrophy 5 [RCV001429588]|Cranioectodermal dysplasia 4 [RCV000324388] Chr4:39240262 [GRCh38]
Chr4:39241882 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.1248T>C (p.Asn416=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001850849]|Asphyxiating thoracic dystrophy 5 [RCV002480216]|Cranioectodermal dysplasia [RCV000298705]|Inborn genetic diseases [RCV004021962]|Jeune thoracic dystrophy [RCV000400723] Chr4:39216209 [GRCh38]
Chr4:39217829 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.13+14C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000299324]|Cranioectodermal dysplasia 4 [RCV000393341] Chr4:39278677 [GRCh38]
Chr4:39280297 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1249+9A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000878418]|Connective tissue disorder [RCV002278577]|Cranioectodermal dysplasia [RCV000401556]|Jeune thoracic dystrophy [RCV000353502] Chr4:39216219 [GRCh38]
Chr4:39217839 [GRCh37]
Chr4:4p14		 benign|uncertain significance
NM_025132.4(WDR19):c.-15G>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000371600]|Cranioectodermal dysplasia 4 [RCV000316935]|not provided [RCV001726138]|not specified [RCV001699999] Chr4:39182543 [GRCh38]
Chr4:39184163 [GRCh37]
Chr4:4p14		 benign|likely benign|uncertain significance
NM_025132.4(WDR19):c.2782A>T (p.Ile928Phe) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000318476]|Asphyxiating thoracic dystrophy 5 [RCV001850850]|Cranioectodermal dysplasia 4 [RCV000375381] Chr4:39253198 [GRCh38]
Chr4:39254818 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.13+15G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000400082]|Asphyxiating thoracic dystrophy 5 [RCV002502343]|Cranioectodermal dysplasia 4 [RCV000337790] Chr4:39278678 [GRCh38]
Chr4:39280298 [GRCh37]
Chr4:4p14		 benign|likely benign|uncertain significance
NM_025132.4(WDR19):c.3249T>C (p.Asp1083=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000289800]|Asphyxiating thoracic dystrophy 5 [RCV001519086]|Connective tissue disorder [RCV002278579]|Cranioectodermal dysplasia 4 [RCV000347138]|not provided [RCV001726139]|not specified [RCV001699383] Chr4:39266128 [GRCh38]
Chr4:39267748 [GRCh37]
Chr4:4p14		 benign|likely benign|uncertain significance
NM_025132.4(WDR19):c.3358+15C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000303611]|Asphyxiating thoracic dystrophy 5 [RCV002057927]|Cranioectodermal dysplasia 4 [RCV000356095] Chr4:39268106 [GRCh38]
Chr4:39269726 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.1064A>T (p.Asp355Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000345040]|Asphyxiating thoracic dystrophy 5 [RCV001051428]|Asphyxiating thoracic dystrophy 5 [RCV002480215]|Cranioectodermal dysplasia 4 [RCV000289997]|Intellectual disability [RCV001252631]|not provided [RCV001573220] Chr4:39215943 [GRCh38]
Chr4:39217563 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.3667C>T (p.Arg1223Cys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000385239]|Asphyxiating thoracic dystrophy 5 [RCV001083150]|Cranioectodermal dysplasia 4 [RCV000288576]|WDR19-related disorder [RCV004530412]|not provided [RCV000488404] Chr4:39274909 [GRCh38]
Chr4:39276529 [GRCh37]
Chr4:4p14		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_025132.4(WDR19):c.3283T>C (p.Leu1095=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000390270]|Asphyxiating thoracic dystrophy 5 [RCV001413120]|Cranioectodermal dysplasia 4 [RCV000341521]|Retinal dystrophy [RCV001074268] Chr4:39268016 [GRCh38]
Chr4:39269636 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.1173C>T (p.Asn391=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000342172]|Asphyxiating thoracic dystrophy 5 [RCV003766008]|Cranioectodermal dysplasia 4 [RCV000393193]|WDR19-related disorder [RCV004530410] Chr4:39216134 [GRCh38]
Chr4:39217754 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.6+5A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000386870]|Asphyxiating thoracic dystrophy 5 [RCV002057925]|Cranioectodermal dysplasia 4 [RCV000292560] Chr4:39182568 [GRCh38]
Chr4:39184188 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.523-3T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000308025]|Asphyxiating thoracic dystrophy 5 [RCV000531768]|Cranioectodermal dysplasia 4 [RCV000344185]|WDR19-related disorder [RCV004544650]|not provided [RCV001700077] Chr4:39203639 [GRCh38]
Chr4:39205259 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.1390C>T (p.Arg464Cys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000325851]|Asphyxiating thoracic dystrophy 5 [RCV001308838]|Asphyxiating thoracic dystrophy 5 [RCV002488766]|Cranioectodermal dysplasia 4 [RCV000380471]|Inborn genetic diseases [RCV002520240]|not provided [RCV004591127] Chr4:39218016 [GRCh38]
Chr4:39219636 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000345648]|Asphyxiating thoracic dystrophy 5 [RCV002057928]|Bardet-Biedl syndrome [RCV001328232]|Cranioectodermal dysplasia 4 [RCV000379247]|Nephronophthisis 13 [RCV002244835]|Senior-Loken syndrome 8 [RCV002244836]|WDR19-related disorder [RCV004544652]|not provided [RCV003221952] Chr4:39277025 [GRCh38]
Chr4:39278645 [GRCh37]
Chr4:4p14		 benign|likely benign|uncertain significance
NM_025132.4(WDR19):c.198A>T (p.Gly66=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000347534]|Asphyxiating thoracic dystrophy 5 [RCV002520238]|Cranioectodermal dysplasia 4 [RCV000395136] Chr4:39189689 [GRCh38]
Chr4:39191309 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.2142+12G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000295902]|Asphyxiating thoracic dystrophy 5 [RCV001514301]|Asphyxiating thoracic dystrophy 5 [RCV002488767]|Cranioectodermal dysplasia 4 [RCV000350808]|Nephronophthisis 13 [RCV002244829]|Senior-Loken syndrome 8 [RCV002244830]|not provided [RCV003114504]|not specified [RCV001700337] Chr4:39231968 [GRCh38]
Chr4:39233588 [GRCh37]
Chr4:4p14		 benign|likely benign|uncertain significance
NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000296083]|Asphyxiating thoracic dystrophy 5 [RCV001209905]|Asphyxiating thoracic dystrophy 5 [RCV002504162]|Cranioectodermal dysplasia 4 [RCV000387978]|not provided [RCV001358231] Chr4:39255862 [GRCh38]
Chr4:39257482 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.*229C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000381413]|Cranioectodermal dysplasia 4 [RCV000329164]|not provided [RCV004716223] Chr4:39285702 [GRCh38]
Chr4:39287322 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.3183+9G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000395820]|Asphyxiating thoracic dystrophy 5 [RCV000877838]|Connective tissue disorder [RCV002278578]|Cranioectodermal dysplasia 4 [RCV000348364]|Nephronophthisis 13 [RCV002244831]|Senior-Loken syndrome 8 [RCV002244832]|not provided [RCV003114505] Chr4:39257563 [GRCh38]
Chr4:39259183 [GRCh37]
Chr4:4p14		 benign|likely benign|uncertain significance
NM_025132.4(WDR19):c.*293_*296dup duplication Cranioectodermal dysplasia [RCV000270494]|Jeune thoracic dystrophy [RCV000323251] Chr4:39285763..39285764 [GRCh38]
Chr4:39287383..39287384 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2715G>A (p.Lys905=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001089412]|not provided [RCV000271288] Chr4:39245438 [GRCh38]
Chr4:39247058 [GRCh37]
Chr4:4p14		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_025132.4(WDR19):c.2095C>T (p.Arg699Trp) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001855132]|not provided [RCV000271694] Chr4:39231909 [GRCh38]
Chr4:39233529 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2365G>A (p.Gly789Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001088018]|Inborn genetic diseases [RCV002519251]|WDR19-related disorder [RCV004734932]|not provided [RCV000274698] Chr4:39240278 [GRCh38]
Chr4:39241898 [GRCh37]
Chr4:4p14		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_025132.4(WDR19):c.*184T>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000271820]|Cranioectodermal dysplasia 4 [RCV000368219] Chr4:39285657 [GRCh38]
Chr4:39287277 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.3(WDR19):c.-59dup duplication Cranioectodermal dysplasia [RCV000261825]|Jeune thoracic dystrophy [RCV000375119] Chr4:39182497..39182498 [GRCh38]
Chr4:39184117..39184118 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2363+1G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001234299]|Asphyxiating thoracic dystrophy 5 [RCV002494812]|not provided [RCV000320568] Chr4:39234876 [GRCh38]
Chr4:39236496 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic
NM_025132.4(WDR19):c.3602G>A (p.Cys1201Tyr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000275573]|Cranioectodermal dysplasia 4 [RCV000328302] Chr4:39274844 [GRCh38]
Chr4:39276464 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2671C>T (p.His891Tyr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001089411]|Inborn genetic diseases [RCV002519250]|WDR19-related disorder [RCV004734931]|not provided [RCV000756917]|not specified [RCV000391331] Chr4:39245394 [GRCh38]
Chr4:39247014 [GRCh37]
Chr4:4p14		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_025132.4(WDR19):c.2429A>G (p.Asp810Gly) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000265585]|Asphyxiating thoracic dystrophy 5 [RCV002488768]|Cranioectodermal dysplasia 4 [RCV000358029] Chr4:39244255 [GRCh38]
Chr4:39245875 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.892A>G (p.Ile298Val) single nucleotide variant not provided [RCV000332363] Chr4:39214602 [GRCh38]
Chr4:39216222 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1099C>G (p.Leu367Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001851293]|not provided [RCV000488022] Chr4:39215978 [GRCh38]
Chr4:39217598 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_025132.4(WDR19):c.1883ACA[1] (p.Asn629del) microsatellite not provided [RCV000722528] Chr4:39228590..39228592 [GRCh38]
Chr4:39230210..39230212 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1293C>T (p.Ala431=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000314364]|Cranioectodermal dysplasia 4 [RCV000369063] Chr4:39217177 [GRCh38]
Chr4:39218797 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.935T>C (p.Ile312Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000329625]|Cranioectodermal dysplasia 4 [RCV000384136] Chr4:39214645 [GRCh38]
Chr4:39216265 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.750A>T (p.Ser250=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000399514]|Cranioectodermal dysplasia 4 [RCV000303258] Chr4:39205596 [GRCh38]
Chr4:39207216 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3439A>G (p.Met1147Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000385898]|Asphyxiating thoracic dystrophy 5 [RCV002487534]|Cranioectodermal dysplasia 4 [RCV000333705] Chr4:39270056 [GRCh38]
Chr4:39271676 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1932G>A (p.Thr644=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000397851]|Asphyxiating thoracic dystrophy 5 [RCV002523470]|Cranioectodermal dysplasia 4 [RCV000335670] Chr4:39228640 [GRCh38]
Chr4:39230260 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.3775C>A (p.Leu1259Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000287322]|Asphyxiating thoracic dystrophy 5 [RCV002520241]|Cranioectodermal dysplasia 4 [RCV000339966] Chr4:39277078 [GRCh38]
Chr4:39278698 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.*131C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000369280]|Cranioectodermal dysplasia 4 [RCV000298217] Chr4:39285604 [GRCh38]
Chr4:39287224 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2218T>C (p.Tyr740His) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000311239]|Asphyxiating thoracic dystrophy 5 [RCV001366163]|Cranioectodermal dysplasia 4 [RCV000402053] Chr4:39232237 [GRCh38]
Chr4:39233857 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2252A>T (p.Glu751Val) single nucleotide variant not provided [RCV000723113] Chr4:39232271 [GRCh38]
Chr4:39233891 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.490G>A (p.Val164Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001044749]|Asphyxiating thoracic dystrophy 5 [RCV001150371]|Cranioectodermal dysplasia 4 [RCV001150370]|not provided [RCV001561180]|not specified [RCV001819714] Chr4:39199561 [GRCh38]
Chr4:39201181 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.991G>T (p.Gly331Cys) single nucleotide variant not provided [RCV000722652] Chr4:39215870 [GRCh38]
Chr4:39217490 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2830_2866del (p.Ile944fs) deletion not provided [RCV000731748] Chr4:39253246..39253282 [GRCh38]
Chr4:39254866..39254902 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_025132.4(WDR19):c.1809del (p.Val604fs) deletion not provided [RCV000722867] Chr4:39228515 [GRCh38]
Chr4:39230135 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.728G>T (p.Gly243Val) single nucleotide variant not provided [RCV000414473] Chr4:39205574 [GRCh38]
Chr4:39207194 [GRCh37]
Chr4:4p14		 likely pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p14(chr4:38723586-39382859)x3 copy number gain See cases [RCV000447130] Chr4:38723586..39382859 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2872G>A (p.Ala958Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001861610]|Asphyxiating thoracic dystrophy 5 [RCV002481324]|Inborn genetic diseases [RCV002526357]|WDR19-related disorder [RCV004735520]|not provided [RCV000417853] Chr4:39253288 [GRCh38]
Chr4:39254908 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2421+5C>G single nucleotide variant not specified [RCV000438109] Chr4:39240339 [GRCh38]
Chr4:39241959 [GRCh37]
Chr4:4p14		 likely benign
GRCh37/hg19 4p14(chr4:38717326-39382906)x3 copy number gain See cases [RCV000448728] Chr4:38717326..39382906 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p14(chr4:38717408-39382906)x3 copy number gain See cases [RCV000448275] Chr4:38717408..39382906 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.742G>A (p.Gly248Ser) single nucleotide variant not provided [RCV000484356] Chr4:39205588 [GRCh38]
Chr4:39207208 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001078579]|Asphyxiating thoracic dystrophy 5 [RCV001146437]|Cranioectodermal dysplasia 4 [RCV001146438]|WDR19-related disorder [RCV004535530]|not provided [RCV000486591]|not specified [RCV001821402] Chr4:39244515 [GRCh38]
Chr4:39246135 [GRCh37]
Chr4:4p14		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_025132.4(WDR19):c.617T>C (p.Leu206Pro) single nucleotide variant not provided [RCV000479045] Chr4:39205167 [GRCh38]
Chr4:39206787 [GRCh37]
Chr4:4p14		 likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000951959]|Asphyxiating thoracic dystrophy 5 [RCV001149216]|Connective tissue disorder [RCV002279282]|Cranioectodermal dysplasia 4 [RCV001149215]|WDR19-related disorder [RCV004541573]|not provided [RCV001532019]|not specified [RCV000500098] Chr4:39255854 [GRCh38]
Chr4:39257474 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.3308G>A (p.Arg1103Gln) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001227801]|Asphyxiating thoracic dystrophy 5 [RCV002481645]|not provided [RCV001811019] Chr4:39268041 [GRCh38]
Chr4:39269661 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.1480-2A>G single nucleotide variant not provided [RCV000493090] Chr4:39224882 [GRCh38]
Chr4:39226502 [GRCh37]
Chr4:4p14		 pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
NM_025132.4(WDR19):c.3784G>A (p.Glu1262Lys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000538980] Chr4:39277087 [GRCh38]
Chr4:39278707 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3966C>T (p.Asn1322=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000555582] Chr4:39278587 [GRCh38]
Chr4:39280207 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1080del (p.Ile361fs) deletion Asphyxiating thoracic dystrophy 5 [RCV000653248] Chr4:39215958 [GRCh38]
Chr4:39217578 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.3808T>A (p.Cys1270Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000653251]|Asphyxiating thoracic dystrophy 5 [RCV002499125] Chr4:39277111 [GRCh38]
Chr4:39278731 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3565C>T (p.His1189Tyr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001865682]|not provided [RCV000512921] Chr4:39273061 [GRCh38]
Chr4:39274681 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p14(chr4:38723586-39382906)x3 copy number gain not provided [RCV000682395] Chr4:38723586..39382906 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.14T>C (p.Phe5Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001212612]|Retinal dystrophy [RCV001074270]|Senior-Loken syndrome 8 [RCV003319401]|not provided [RCV000681867] Chr4:39185733 [GRCh38]
Chr4:39187353 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic|uncertain significance
NM_025132.4(WDR19):c.1982+2T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000688346] Chr4:39228692 [GRCh38]
Chr4:39230312 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_025132.4(WDR19):c.3716+46dup duplication Asphyxiating thoracic dystrophy 5 [RCV002245227]|Cranioectodermal dysplasia 4 [RCV002245229]|Nephronophthisis 13 [RCV002245228]|Senior-Loken syndrome 8 [RCV002245230] Chr4:39275003..39275004 [GRCh38]
Chr4:39276623..39276624 [GRCh37]
Chr4:4p14		 benign
GRCh37/hg19 4p14(chr4:39149491-39257474)x3 copy number gain not provided [RCV000743530] Chr4:39149491..39257474 [GRCh37]
Chr4:4p14		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_025132.4(WDR19):c.1462C>T (p.Leu488Phe) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002501945]|Asphyxiating thoracic dystrophy 5 [RCV002571162]|Cone dystrophy [RCV001591894] Chr4:39218088 [GRCh38]
Chr4:39219708 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1778-1G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001871671]|not provided [RCV001812343] Chr4:39228485 [GRCh38]
Chr4:39230105 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_025132.4(WDR19):c.3397T>C (p.Tyr1133His) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003770439]|not provided [RCV001812376] Chr4:39270014 [GRCh38]
Chr4:39271634 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.962-109A>G single nucleotide variant not provided [RCV001647770] Chr4:39215732 [GRCh38]
Chr4:39217352 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.3841-64dup duplication not provided [RCV001693164] Chr4:39278051..39278052 [GRCh38]
Chr4:39279671..39279672 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.389G>A (p.Arg130Gln) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002477749]|WDR19-related disorder [RCV004735794]|not provided [RCV000762096]|not specified [RCV003151145] Chr4:39194642 [GRCh38]
Chr4:39196262 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3483+5G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001149319]|Asphyxiating thoracic dystrophy 5 [RCV001202818]|Asphyxiating thoracic dystrophy 5 [RCV002480539]|Connective tissue disorder [RCV002276640]|Cranioectodermal dysplasia 4 [RCV001146557]|WDR19-related disorder [RCV004538371] Chr4:39270105 [GRCh38]
Chr4:39271725 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3436G>A (p.Glu1146Lys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001146555]|Asphyxiating thoracic dystrophy 5 [RCV002480538]|Asphyxiating thoracic dystrophy 5 [RCV002559414]|Cranioectodermal dysplasia 4 [RCV001146556]|Inborn genetic diseases [RCV002557139] Chr4:39270053 [GRCh38]
Chr4:39271673 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.108T>G (p.Tyr36Ter) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000987438] Chr4:39186548 [GRCh38]
Chr4:39188168 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.2945A>G (p.Glu982Gly) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001044573] Chr4:39253974 [GRCh38]
Chr4:39255594 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2324C>G (p.Pro775Arg) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001044870] Chr4:39234836 [GRCh38]
Chr4:39236456 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.*106T>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001146676]|Cranioectodermal dysplasia 4 [RCV001144718] Chr4:39285579 [GRCh38]
Chr4:39287199 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3183+188G>T single nucleotide variant not provided [RCV001667744] Chr4:39257742 [GRCh38]
Chr4:39259362 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002499193]|Asphyxiating thoracic dystrophy 5 [RCV003106018]|Cranioectodermal dysplasia [RCV000754959] Chr4:39225027 [GRCh38]
Chr4:39226647 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic
NM_025132.4(WDR19):c.2877-30A>G single nucleotide variant not provided [RCV001689530] Chr4:39253876 [GRCh38]
Chr4:39255496 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.1960G>A (p.Ala654Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001149088]|Cranioectodermal dysplasia 4 [RCV001149089]|Inborn genetic diseases [RCV004032772] Chr4:39228668 [GRCh38]
Chr4:39230288 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.2087G>A (p.Arg696His) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001149091]|Asphyxiating thoracic dystrophy 5 [RCV002483878]|Asphyxiating thoracic dystrophy 5 [RCV002559433]|Cranioectodermal dysplasia 4 [RCV001149090]|Inborn genetic diseases [RCV003163332] Chr4:39231901 [GRCh38]
Chr4:39233521 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.438T>C (p.Cys146=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002065981] Chr4:39199509 [GRCh38]
Chr4:39201129 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3268A>C (p.Lys1090Gln) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000946033]|WDR19-related disorder [RCV004735906]|not provided [RCV004711441] Chr4:39268001 [GRCh38]
Chr4:39269621 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2325T>G (p.Pro775=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002536813] Chr4:39234837 [GRCh38]
Chr4:39236457 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.783T>C (p.Thr261=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001408652] Chr4:39205629 [GRCh38]
Chr4:39207249 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2673C>T (p.His891=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002065653] Chr4:39245396 [GRCh38]
Chr4:39247016 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1941C>T (p.Asp647=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002066398] Chr4:39228649 [GRCh38]
Chr4:39230269 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3624C>T (p.Asn1208=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002502821]|not provided [RCV000926314] Chr4:39274866 [GRCh38]
Chr4:39276486 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2702A>G (p.Tyr901Cys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000949194]|Connective tissue disorder [RCV002279655]|WDR19-related disorder [RCV004543559]|not provided [RCV003106084] Chr4:39245425 [GRCh38]
Chr4:39247045 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.891-9G>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000929415] Chr4:39214592 [GRCh38]
Chr4:39216212 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.302C>A (p.Ser101Tyr) single nucleotide variant Retinal dystrophy [RCV001075305] Chr4:39194555 [GRCh38]
Chr4:39196175 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1778G>T (p.Gly593Val) single nucleotide variant Retinal dystrophy [RCV001075308] Chr4:39228486 [GRCh38]
Chr4:39230106 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3470A>G (p.Tyr1157Cys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001058540] Chr4:39270087 [GRCh38]
Chr4:39271707 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2730-129G>A single nucleotide variant not provided [RCV001608821] Chr4:39253017 [GRCh38]
Chr4:39254637 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.3253A>C (p.Met1085Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001053796] Chr4:39266132 [GRCh38]
Chr4:39267752 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1535G>A (p.Arg512Gln) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001052235]|Asphyxiating thoracic dystrophy 5 [RCV002497408] Chr4:39224939 [GRCh38]
Chr4:39226559 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1796C>T (p.Ala599Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001037994]|Asphyxiating thoracic dystrophy 5 [RCV002489549]|Inborn genetic diseases [RCV002551402] Chr4:39228504 [GRCh38]
Chr4:39230124 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3851T>C (p.Met1284Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002557907]|Retinal dystrophy [RCV001074153] Chr4:39278141 [GRCh38]
Chr4:39279761 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.291-9A>G single nucleotide variant Retinal dystrophy [RCV001074267] Chr4:39194535 [GRCh38]
Chr4:39196155 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001387309]|Cranioectodermal dysplasia 4 [RCV002225117]|Retinal dystrophy [RCV001074152]|WDR19-related disorder [RCV000779440]|not provided [RCV001701316] Chr4:39205191 [GRCh38]
Chr4:39206811 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic|uncertain significance
NM_025132.4(WDR19):c.3112C>T (p.Arg1038Ter) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001856174]|Senior-Loken syndrome 8 [RCV001281117]|WDR19-related disorder [RCV000779442] Chr4:39255958 [GRCh38]
Chr4:39257578 [GRCh37]
Chr4:4p14		 pathogenic|uncertain significance
NM_025132.4(WDR19):c.1566C>T (p.Pro522=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000951175]|Asphyxiating thoracic dystrophy 5 [RCV001144396]|Cranioectodermal dysplasia 4 [RCV001150486] Chr4:39224970 [GRCh38]
Chr4:39226590 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.243T>C (p.Leu81=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000903179] Chr4:39189734 [GRCh38]
Chr4:39191354 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2363+7C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000946201]|Asphyxiating thoracic dystrophy 5 [RCV002488026]|not provided [RCV001573074]|not specified [RCV001818932] Chr4:39234882 [GRCh38]
Chr4:39236502 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000966705]|Asphyxiating thoracic dystrophy 5 [RCV001150718]|Cranioectodermal dysplasia 4 [RCV001150717]|Nephronophthisis 13 [RCV002245787]|Senior-Loken syndrome 8 [RCV002245788] Chr4:39255873 [GRCh38]
Chr4:39257493 [GRCh37]
Chr4:4p14		 benign|likely benign
NM_025132.4(WDR19):c.1366G>A (p.Glu456Lys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001460840]|WDR19-related disorder [RCV004735860] Chr4:39217992 [GRCh38]
Chr4:39219612 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3762A>G (p.Pro1254=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000916681] Chr4:39277065 [GRCh38]
Chr4:39278685 [GRCh37]
Chr4:4p14		 likely benign
GRCh37/hg19 4p14(chr4:39215680-39219295) copy number loss Nephronophthisis 13 [RCV000767699] Chr4:39215680..39219295 [GRCh37]
Chr4:4p14		 pathogenic
GRCh37/hg19 4p14(chr4:39286836-39370055)x1 copy number loss not provided [RCV001005535] Chr4:39286836..39370055 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3936C>T (p.Ser1312=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000817241] Chr4:39278557 [GRCh38]
Chr4:39280177 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.1997G>A (p.Trp666Ter) single nucleotide variant not provided [RCV000788494] Chr4:39231811 [GRCh38]
Chr4:39233431 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_025132.4(WDR19):c.959A>T (p.Lys320Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000793358] Chr4:39214669 [GRCh38]
Chr4:39216289 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.*296T>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001147584]|Cranioectodermal dysplasia 4 [RCV001147583] Chr4:39285769 [GRCh38]
Chr4:39287389 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2003T>C (p.Met668Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000811020] Chr4:39231817 [GRCh38]
Chr4:39233437 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2872G>C (p.Ala958Pro) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001149213]|Cranioectodermal dysplasia 4 [RCV001149214] Chr4:39253288 [GRCh38]
Chr4:39254908 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2686A>G (p.Lys896Glu) single nucleotide variant not provided [RCV003314986] Chr4:39245409 [GRCh38]
Chr4:39247029 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3358+9G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000919294] Chr4:39268100 [GRCh38]
Chr4:39269720 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1775A>G (p.Gln592Arg) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000981651]|Asphyxiating thoracic dystrophy 5 [RCV001146290]|Cranioectodermal dysplasia 4 [RCV001146291] Chr4:39228355 [GRCh38]
Chr4:39229975 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.3160G>T (p.Ala1054Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000801272] Chr4:39257531 [GRCh38]
Chr4:39259151 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3683C>G (p.Ala1228Gly) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001150825]|Asphyxiating thoracic dystrophy 5 [RCV001202819]|Asphyxiating thoracic dystrophy 5 [RCV002497570]|Connective tissue disorder [RCV002276645]|Cranioectodermal dysplasia 4 [RCV001150824]|Inborn genetic diseases [RCV003163337]|WDR19-related disorder [RCV004538377] Chr4:39274925 [GRCh38]
Chr4:39276545 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.716+2del deletion Asphyxiating thoracic dystrophy 5 [RCV001211083] Chr4:39205268 [GRCh38]
Chr4:39206888 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_025132.4(WDR19):c.1559T>C (p.Ile520Thr) single nucleotide variant Nephronophthisis 13 [RCV001175235] Chr4:39224963 [GRCh38]
Chr4:39226583 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_025132.4(WDR19):c.270C>T (p.Ser90=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001202535] Chr4:39189761 [GRCh38]
Chr4:39191381 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.710A>G (p.Tyr237Cys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001248075]|not provided [RCV004692339] Chr4:39205260 [GRCh38]
Chr4:39206880 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1127T>C (p.Val376Ala) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001241922]|Asphyxiating thoracic dystrophy 5 [RCV002480808] Chr4:39216006 [GRCh38]
Chr4:39217626 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2194G>A (p.Asp732Asn) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001202989] Chr4:39232213 [GRCh38]
Chr4:39233833 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3502G>A (p.Asp1168Asn) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001240775]|Asphyxiating thoracic dystrophy 5 [RCV002491799]|Inborn genetic diseases [RCV002568534] Chr4:39272998 [GRCh38]
Chr4:39274618 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3368G>A (p.Arg1123Gln) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001206243]|Asphyxiating thoracic dystrophy 5 [RCV002480675]|Connective tissue disorder [RCV002276660] Chr4:39269985 [GRCh38]
Chr4:39271605 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1172A>G (p.Asn391Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001237785]|Asphyxiating thoracic dystrophy 5 [RCV002504333] Chr4:39216133 [GRCh38]
Chr4:39217753 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.106T>G (p.Tyr36Asp) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001238218] Chr4:39186546 [GRCh38]
Chr4:39188166 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.842T>C (p.Ile281Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001232193] Chr4:39205688 [GRCh38]
Chr4:39207308 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2828A>G (p.Asn943Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001210400] Chr4:39253244 [GRCh38]
Chr4:39254864 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1479T>C (p.Asp493=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001229171]|WDR19-related disorder [RCV004545134] Chr4:39218105 [GRCh38]
Chr4:39219725 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.603+3A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001229575] Chr4:39203725 [GRCh38]
Chr4:39205345 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.291-12_291-11del deletion Cranioectodermal dysplasia 4 [RCV001197074] Chr4:39194532..39194533 [GRCh38]
Chr4:39196152..39196153 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3874T>C (p.Cys1292Arg) single nucleotide variant Cranioectodermal dysplasia 4 [RCV001197714] Chr4:39278164 [GRCh38]
Chr4:39279784 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2894G>T (p.Gly965Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001201991] Chr4:39253923 [GRCh38]
Chr4:39255543 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3553A>C (p.Lys1185Gln) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001204519] Chr4:39273049 [GRCh38]
Chr4:39274669 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2720C>T (p.Ala907Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001205192]|Asphyxiating thoracic dystrophy 5 [RCV002478948]|Craniosynostosis syndrome [RCV000985264]|not provided [RCV004693416] Chr4:39245443 [GRCh38]
Chr4:39247063 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2786G>C (p.Arg929Pro) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000987441]|Asphyxiating thoracic dystrophy 5 [RCV002304221] Chr4:39253202 [GRCh38]
Chr4:39254822 [GRCh37]
Chr4:4p14		 likely pathogenic|uncertain significance
NM_025132.4(WDR19):c.2251G>A (p.Glu751Lys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001150604]|Cranioectodermal dysplasia 4 [RCV001150603] Chr4:39232270 [GRCh38]
Chr4:39233890 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.961+2T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001043448]|Asphyxiating thoracic dystrophy 5 [RCV002481903] Chr4:39214673 [GRCh38]
Chr4:39216293 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_025132.4(WDR19):c.778C>T (p.His260Tyr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001144281]|Asphyxiating thoracic dystrophy 5 [RCV002482276]|Cranioectodermal dysplasia 4 [RCV001144282]|Inborn genetic diseases [RCV002559390] Chr4:39205624 [GRCh38]
Chr4:39207244 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.*83G>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001144717]|Cranioectodermal dysplasia 4 [RCV001144716] Chr4:39285556 [GRCh38]
Chr4:39287176 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.128G>A (p.Arg43His) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001148842]|Asphyxiating thoracic dystrophy 5 [RCV002557195]|Cranioectodermal dysplasia 4 [RCV001148843] Chr4:39186568 [GRCh38]
Chr4:39188188 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1454G>T (p.Ser485Ile) single nucleotide variant Stargardt-like macular dystrophy [RCV003126393] Chr4:39218080 [GRCh38]
Chr4:39219700 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1010C>T (p.Ser337Phe) single nucleotide variant Senior-Loken syndrome 8 [RCV003232885] Chr4:39215889 [GRCh38]
Chr4:39217509 [GRCh37]
Chr4:4p14		 uncertain significance
NC_000004.11:g.(?_39187326)_(39478735_?)dup duplication not provided [RCV003105278] Chr4:39187326..39478735 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4:c.(3183+1_3184-1)_(3261+1_3262-1)del deletion Stargardt-like macular dystrophy [RCV003126396]   uncertain significance
NM_025132.4(WDR19):c.553C>G (p.Gln185Glu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001882779]|not provided [RCV001702023] Chr4:39203672 [GRCh38]
Chr4:39205292 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.1250-185G>T single nucleotide variant not provided [RCV001673888] Chr4:39216949 [GRCh38]
Chr4:39218569 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.2422-166A>T single nucleotide variant not provided [RCV001597357] Chr4:39244082 [GRCh38]
Chr4:39245702 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.3359-55A>G single nucleotide variant not provided [RCV001616107] Chr4:39269921 [GRCh38]
Chr4:39271541 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.98+85del deletion not provided [RCV001673621] Chr4:39185902 [GRCh38]
Chr4:39187522 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.522+9G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000887927] Chr4:39199602 [GRCh38]
Chr4:39201222 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.501G>A (p.Gln167=) single nucleotide variant not provided [RCV000907927] Chr4:39199572 [GRCh38]
Chr4:39201192 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1797T>G (p.Ala599=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000952345]|Asphyxiating thoracic dystrophy 5 [RCV002479098]|WDR19-related disorder [RCV004543583]|not provided [RCV004711453] Chr4:39228505 [GRCh38]
Chr4:39230125 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1365C>T (p.Ser455=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000938706] Chr4:39217991 [GRCh38]
Chr4:39219611 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3951T>C (p.Cys1317=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002495431]|Asphyxiating thoracic dystrophy 5 [RCV002540154] Chr4:39278572 [GRCh38]
Chr4:39280192 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3359-8T>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000887498]|not provided [RCV001701349] Chr4:39269968 [GRCh38]
Chr4:39271588 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3500G>T (p.Gly1167Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001212275]|Inborn genetic diseases [RCV002561782] Chr4:39272996 [GRCh38]
Chr4:39274616 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.275T>G (p.Leu92Ter) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001235420] Chr4:39189766 [GRCh38]
Chr4:39191386 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.2563-6T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001071032] Chr4:39244464 [GRCh38]
Chr4:39246084 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1118C>G (p.Ala373Gly) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001226106]|Asphyxiating thoracic dystrophy 5 [RCV002497769]|Inborn genetic diseases [RCV002562608]|not provided [RCV004762004] Chr4:39215997 [GRCh38]
Chr4:39217617 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.806T>C (p.Phe269Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001226558] Chr4:39205652 [GRCh38]
Chr4:39207272 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2669C>G (p.Pro890Arg) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001219453] Chr4:39245392 [GRCh38]
Chr4:39247012 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1810G>C (p.Val604Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001227060] Chr4:39228518 [GRCh38]
Chr4:39230138 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3749C>T (p.Thr1250Met) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001230464]|Asphyxiating thoracic dystrophy 5 [RCV002484256]|not provided [RCV004695234] Chr4:39277052 [GRCh38]
Chr4:39278672 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3140C>T (p.Pro1047Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001240288]|Inborn genetic diseases [RCV002567948] Chr4:39257511 [GRCh38]
Chr4:39259131 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3913_3917+1dup duplication Asphyxiating thoracic dystrophy 5 [RCV001240926] Chr4:39278200..39278201 [GRCh38]
Chr4:39279820..39279821 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.171T>C (p.Cys57=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001148844]|Cranioectodermal dysplasia 4 [RCV001148845] Chr4:39189662 [GRCh38]
Chr4:39191282 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2710G>A (p.Ala904Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001048033]|Asphyxiating thoracic dystrophy 5 [RCV002505588] Chr4:39245433 [GRCh38]
Chr4:39247053 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2492T>C (p.Val831Ala) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001235073]|Inborn genetic diseases [RCV002563821] Chr4:39244318 [GRCh38]
Chr4:39245938 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.333C>A (p.Phe111Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001206920] Chr4:39194586 [GRCh38]
Chr4:39196206 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1114G>A (p.Val372Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001244011] Chr4:39215993 [GRCh38]
Chr4:39217613 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3251G>T (p.Gly1084Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001244139] Chr4:39266130 [GRCh38]
Chr4:39267750 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2329A>G (p.Ile777Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001052712]|Asphyxiating thoracic dystrophy 5 [RCV001150605]|Cranioectodermal dysplasia 4 [RCV001144506]|Inborn genetic diseases [RCV002549998]|not provided [RCV000998234] Chr4:39234841 [GRCh38]
Chr4:39236461 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.98+10C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001472430] Chr4:39185827 [GRCh38]
Chr4:39187447 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1250-1G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV000987439] Chr4:39217133 [GRCh38]
Chr4:39218753 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.2887C>T (p.Gln963Ter) single nucleotide variant Cranioectodermal dysplasia 4 [RCV003234977] Chr4:39253916 [GRCh38]
Chr4:39255536 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_025132.4(WDR19):c.1629+76A>G single nucleotide variant not provided [RCV001639645] Chr4:39225109 [GRCh38]
Chr4:39226729 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.98+85G>T single nucleotide variant not provided [RCV001536399] Chr4:39185902 [GRCh38]
Chr4:39187522 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.290+226T>C single nucleotide variant not provided [RCV001675567] Chr4:39190007 [GRCh38]
Chr4:39191627 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.3917+80A>G single nucleotide variant not provided [RCV001638950] Chr4:39278287 [GRCh38]
Chr4:39279907 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.2253+85G>A single nucleotide variant not provided [RCV001640851] Chr4:39232357 [GRCh38]
Chr4:39233977 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.3114+62A>G single nucleotide variant not provided [RCV001617607] Chr4:39256022 [GRCh38]
Chr4:39257642 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.3841-27T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002243392]|Cranioectodermal dysplasia 4 [RCV002243394]|Nephronophthisis 13 [RCV002243393]|Senior-Loken syndrome 8 [RCV002243395]|not provided [RCV001678019] Chr4:39278104 [GRCh38]
Chr4:39279724 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.2421+157C>A single nucleotide variant not provided [RCV001656755] Chr4:39240491 [GRCh38]
Chr4:39242111 [GRCh37]
Chr4:4p14		 benign
GRCh37/hg19 4p14(chr4:39037273-39348230)x3 copy number gain not provided [RCV001005534] Chr4:39037273..39348230 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3114+59_3114+90dup duplication not provided [RCV001657148] Chr4:39255995..39255996 [GRCh38]
Chr4:39257615..39257616 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.2877-157T>A single nucleotide variant not provided [RCV001695272] Chr4:39253749 [GRCh38]
Chr4:39255369 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.603+23C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002243368]|Cranioectodermal dysplasia 4 [RCV002243370]|Nephronophthisis 13 [RCV002243369]|Senior-Loken syndrome 8 [RCV002243371]|not provided [RCV001656635] Chr4:39203745 [GRCh38]
Chr4:39205365 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.3115-47T>C single nucleotide variant not specified [RCV001001473] Chr4:39257439 [GRCh38]
Chr4:39259059 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.822T>C (p.His274=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001144283]|Asphyxiating thoracic dystrophy 5 [RCV002070740]|Cranioectodermal dysplasia 4 [RCV001144284] Chr4:39205668 [GRCh38]
Chr4:39207288 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001144507]|Asphyxiating thoracic dystrophy 5 [RCV001437182]|Cranioectodermal dysplasia 4 [RCV001144508]|WDR19-related disorder [RCV004538367]|not provided [RCV003142079] Chr4:39240299 [GRCh38]
Chr4:39241919 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.2159A>G (p.Asn720Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001067543]|Asphyxiating thoracic dystrophy 5 [RCV002482113]|Connective tissue disorder [RCV002276610] Chr4:39232178 [GRCh38]
Chr4:39233798 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1480-3del deletion not provided [RCV001811596]|not specified [RCV001529232] Chr4:39224867 [GRCh38]
Chr4:39226487 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.906C>G (p.Asp302Glu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001050043] Chr4:39214616 [GRCh38]
Chr4:39216236 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002501946]|Asphyxiating thoracic dystrophy 5 [RCV002571163]|Cone dystrophy [RCV001591895] Chr4:39244311 [GRCh38]
Chr4:39245931 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic
NM_025132.4(WDR19):c.406+128C>T single nucleotide variant not provided [RCV001670241] Chr4:39194787 [GRCh38]
Chr4:39196407 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.890+177A>G single nucleotide variant not provided [RCV001681190] Chr4:39205913 [GRCh38]
Chr4:39207533 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.962-172T>C single nucleotide variant not provided [RCV001693781] Chr4:39215669 [GRCh38]
Chr4:39217289 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.2320A>T (p.Ile774Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001236709]|Inborn genetic diseases [RCV002563871] Chr4:39234832 [GRCh38]
Chr4:39236452 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1734T>A (p.Asp578Glu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001056087]|Asphyxiating thoracic dystrophy 5 [RCV002479341] Chr4:39228314 [GRCh38]
Chr4:39229934 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3917+15C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002068764]|not provided [RCV001811588] Chr4:39278222 [GRCh38]
Chr4:39279842 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1748C>T (p.Thr583Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001233422] Chr4:39228328 [GRCh38]
Chr4:39229948 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2362G>A (p.Ala788Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001060443]|Inborn genetic diseases [RCV004678937] Chr4:39234874 [GRCh38]
Chr4:39236494 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.3483+11T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001149320]|Asphyxiating thoracic dystrophy 5 [RCV001402985]|Cranioectodermal dysplasia 4 [RCV001149321] Chr4:39270111 [GRCh38]
Chr4:39271731 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.3484-15T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001149323]|Asphyxiating thoracic dystrophy 5 [RCV002070811]|Cranioectodermal dysplasia 4 [RCV001149322] Chr4:39272965 [GRCh38]
Chr4:39274585 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.785G>A (p.Gly262Glu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001236926] Chr4:39205631 [GRCh38]
Chr4:39207251 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2977A>G (p.Met993Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001060770] Chr4:39254006 [GRCh38]
Chr4:39255626 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.479A>G (p.Lys160Arg) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001150369]|Asphyxiating thoracic dystrophy 5 [RCV001242298]|Asphyxiating thoracic dystrophy 5 [RCV002491440]|Cranioectodermal dysplasia 4 [RCV001150368]|Inborn genetic diseases [RCV003246730] Chr4:39199550 [GRCh38]
Chr4:39201170 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.689A>C (p.Asp230Ala) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001144280]|Asphyxiating thoracic dystrophy 5 [RCV001202820]|Asphyxiating thoracic dystrophy 5 [RCV002480532]|Connective tissue disorder [RCV002276635]|Cranioectodermal dysplasia 4 [RCV001150372]|WDR19-related disorder [RCV004528395] Chr4:39205239 [GRCh38]
Chr4:39206859 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1487T>C (p.Val496Ala) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001061539] Chr4:39224891 [GRCh38]
Chr4:39226511 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_025132.4(WDR19):c.2312C>T (p.Pro771Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001057787] Chr4:39234824 [GRCh38]
Chr4:39236444 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3068A>C (p.Tyr1023Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001150721]|Asphyxiating thoracic dystrophy 5 [RCV002557250]|Cranioectodermal dysplasia 4 [RCV001150722] Chr4:39255914 [GRCh38]
Chr4:39257534 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1775A>T (p.Gln592Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001146293]|Asphyxiating thoracic dystrophy 5 [RCV001858962]|Asphyxiating thoracic dystrophy 5 [RCV002497565]|Cranioectodermal dysplasia 4 [RCV001146292] Chr4:39228355 [GRCh38]
Chr4:39229975 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3659C>T (p.Pro1220Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001234298]|Asphyxiating thoracic dystrophy 5 [RCV002491757] Chr4:39274901 [GRCh38]
Chr4:39276521 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2730-10T>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001248101] Chr4:39253136 [GRCh38]
Chr4:39254756 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.*124T>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001146678]|Cranioectodermal dysplasia 4 [RCV001146677] Chr4:39285597 [GRCh38]
Chr4:39287217 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3788G>A (p.Cys1263Tyr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001037562] Chr4:39277091 [GRCh38]
Chr4:39278711 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2213A>T (p.Asp738Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001205121]|not provided [RCV003737027] Chr4:39232232 [GRCh38]
Chr4:39233852 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3013A>T (p.Thr1005Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001235502] Chr4:39255859 [GRCh38]
Chr4:39257479 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3474A>G (p.Ile1158Met) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001202523] Chr4:39270091 [GRCh38]
Chr4:39271711 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.142dup (p.Arg48fs) duplication Asphyxiating thoracic dystrophy 5 [RCV003769411]|not provided [RCV001008288] Chr4:39186576..39186577 [GRCh38]
Chr4:39188196..39188197 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic
NM_025132.4(WDR19):c.2292A>T (p.Gln764His) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001054696] Chr4:39234804 [GRCh38]
Chr4:39236424 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1328T>C (p.Leu443Pro) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001211562] Chr4:39217212 [GRCh38]
Chr4:39218832 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3823C>G (p.Pro1275Ala) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001064835]|Asphyxiating thoracic dystrophy 5 [RCV002479381]|Inborn genetic diseases [RCV002555835]|WDR19-related disorder [RCV004735956]|not provided [RCV001700692] Chr4:39277126 [GRCh38]
Chr4:39278746 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1639G>A (p.Ala547Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001144401]|Asphyxiating thoracic dystrophy 5 [RCV001351830]|Asphyxiating thoracic dystrophy 5 [RCV002482277]|Cranioectodermal dysplasia 4 [RCV001146289] Chr4:39228219 [GRCh38]
Chr4:39229839 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2430T>G (p.Asp810Glu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001146434]|Cranioectodermal dysplasia 4 [RCV001146433] Chr4:39244256 [GRCh38]
Chr4:39245876 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3042C>T (p.Ala1014=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001150719]|Asphyxiating thoracic dystrophy 5 [RCV002557249]|Cranioectodermal dysplasia 4 [RCV001150720] Chr4:39255888 [GRCh38]
Chr4:39257508 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.3946A>T (p.Met1316Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001214117] Chr4:39278567 [GRCh38]
Chr4:39280187 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3146C>T (p.Ser1049Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001052352]|Asphyxiating thoracic dystrophy 5 [RCV002489622] Chr4:39257517 [GRCh38]
Chr4:39259137 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.802A>T (p.Ile268Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001063517]|Inborn genetic diseases [RCV002554456] Chr4:39205648 [GRCh38]
Chr4:39207268 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1982+6C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001063759] Chr4:39228696 [GRCh38]
Chr4:39230316 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.269G>A (p.Ser90Asn) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001304717] Chr4:39189760 [GRCh38]
Chr4:39191380 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p14(chr4:39116340-40293329)x3 copy number gain not provided [RCV001259839] Chr4:39116340..40293329 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2646-2A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001880103]|Inborn genetic diseases [RCV001265913] Chr4:39245367 [GRCh38]
Chr4:39246987 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_025132.4(WDR19):c.2093A>C (p.Tyr698Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001373812]|Asphyxiating thoracic dystrophy 5 [RCV002504415]|not provided [RCV001813107] Chr4:39231907 [GRCh38]
Chr4:39233527 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2891T>C (p.Leu964Pro) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001880104]|Inborn genetic diseases [RCV001265914] Chr4:39253920 [GRCh38]
Chr4:39255540 [GRCh37]
Chr4:4p14		 likely pathogenic|uncertain significance
NM_025132.4(WDR19):c.2683C>G (p.Pro895Ala) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001339304] Chr4:39245406 [GRCh38]
Chr4:39247026 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1066G>A (p.Ala356Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001350457]|not provided [RCV003738049] Chr4:39215945 [GRCh38]
Chr4:39217565 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2333C>G (p.Ser778Ter) single nucleotide variant Nephronophthisis 13 [RCV001281115] Chr4:39234845 [GRCh38]
Chr4:39236465 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.3967G>A (p.Ala1323Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001296618]|Asphyxiating thoracic dystrophy 5 [RCV002504434] Chr4:39278588 [GRCh38]
Chr4:39280208 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3833T>C (p.Ile1278Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001307544] Chr4:39277136 [GRCh38]
Chr4:39278756 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2363C>T (p.Ala788Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001302572] Chr4:39234875 [GRCh38]
Chr4:39236495 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.664C>G (p.Pro222Ala) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001320000]|Asphyxiating thoracic dystrophy 5 [RCV002476497] Chr4:39205214 [GRCh38]
Chr4:39206834 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3379G>A (p.Asp1127Asn) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001294746] Chr4:39269996 [GRCh38]
Chr4:39271616 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.343G>A (p.Gly115Arg) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001299952]|Asphyxiating thoracic dystrophy 5 [RCV002493583] Chr4:39194596 [GRCh38]
Chr4:39196216 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2320A>G (p.Ile774Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001303083] Chr4:39234832 [GRCh38]
Chr4:39236452 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1927G>T (p.Asp643Tyr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001349881] Chr4:39228635 [GRCh38]
Chr4:39230255 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3526C>T (p.Leu1176Phe) single nucleotide variant Bardet-Biedl syndrome [RCV001328231] Chr4:39273022 [GRCh38]
Chr4:39274642 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3565+4A>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001324887] Chr4:39273065 [GRCh38]
Chr4:39274685 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1373T>C (p.Leu458Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001296649] Chr4:39217999 [GRCh38]
Chr4:39219619 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3188G>A (p.Gly1063Asp) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001314229] Chr4:39266067 [GRCh38]
Chr4:39267687 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2786G>A (p.Arg929His) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001320937]|Inborn genetic diseases [RCV004679072]|not provided [RCV003166856] Chr4:39253202 [GRCh38]
Chr4:39254822 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3875G>T (p.Cys1292Phe) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001865892]|Senior-Loken syndrome 8 [RCV001376246] Chr4:39278165 [GRCh38]
Chr4:39279785 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1782C>A (p.Ala594=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001397387] Chr4:39228490 [GRCh38]
Chr4:39230110 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1522G>A (p.Val508Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001308218] Chr4:39224926 [GRCh38]
Chr4:39226546 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1493A>G (p.Gln498Arg) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001372528] Chr4:39224897 [GRCh38]
Chr4:39226517 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2741C>A (p.Ala914Asp) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002251761]|Saldino-Mainzer syndrome [RCV001290088]|Senior-Loken syndrome 8 [RCV001281116] Chr4:39253157 [GRCh38]
Chr4:39254777 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic
NM_025132.4(WDR19):c.580C>G (p.Arg194Gly) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001297655] Chr4:39203699 [GRCh38]
Chr4:39205319 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3247G>A (p.Asp1083Asn) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001361624]|Inborn genetic diseases [RCV003246939]|not provided [RCV003319467] Chr4:39266126 [GRCh38]
Chr4:39267746 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2948C>T (p.Ala983Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001374309] Chr4:39253977 [GRCh38]
Chr4:39255597 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3184-2A>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001970776]|Renal dysplasia and retinal aplasia [RCV003324579] Chr4:39266061 [GRCh38]
Chr4:39267681 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic
NM_025132.4(WDR19):c.2909C>T (p.Ala970Val) single nucleotide variant Senior-Loken syndrome 8 [RCV001376245] Chr4:39253938 [GRCh38]
Chr4:39255558 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.8G>A (p.Arg3His) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001348781]|Asphyxiating thoracic dystrophy 5 [RCV002476606] Chr4:39185727 [GRCh38]
Chr4:39187347 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3485T>A (p.Ile1162Asn) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001302721] Chr4:39272981 [GRCh38]
Chr4:39274601 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2428G>T (p.Asp810Tyr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001360075] Chr4:39244254 [GRCh38]
Chr4:39245874 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1112C>T (p.Thr371Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001371162] Chr4:39215991 [GRCh38]
Chr4:39217611 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1956G>C (p.Met652Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001359072]|Asphyxiating thoracic dystrophy 5 [RCV002493835] Chr4:39228664 [GRCh38]
Chr4:39230284 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3532C>T (p.Arg1178Trp) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001370359]|Asphyxiating thoracic dystrophy 5 [RCV002476689] Chr4:39273028 [GRCh38]
Chr4:39274648 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3374C>T (p.Ala1125Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001370475] Chr4:39269991 [GRCh38]
Chr4:39271611 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1377T>C (p.Asp459=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001414048] Chr4:39218003 [GRCh38]
Chr4:39219623 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3358+8C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001433716] Chr4:39268099 [GRCh38]
Chr4:39269719 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3113G>A (p.Arg1038Gln) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001345701] Chr4:39255959 [GRCh38]
Chr4:39257579 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1466T>C (p.Ile489Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001364842] Chr4:39218092 [GRCh38]
Chr4:39219712 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2059C>T (p.His687Tyr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001325366]|Asphyxiating thoracic dystrophy 5 [RCV002486303]|Inborn genetic diseases [RCV004679079] Chr4:39231873 [GRCh38]
Chr4:39233493 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.592G>A (p.Ala198Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001297832] Chr4:39203711 [GRCh38]
Chr4:39205331 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3303A>G (p.Gln1101=) single nucleotide variant not provided [RCV001812394] Chr4:39268036 [GRCh38]
Chr4:39269656 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3508A>G (p.Met1170Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001322947] Chr4:39273004 [GRCh38]
Chr4:39274624 [GRCh37]
Chr4:4p14		 uncertain significance
NC_000004.11:g.(?_39245868)_(39259174_?)del deletion Asphyxiating thoracic dystrophy 5 [RCV001346675] Chr4:39245868..39259174 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2192A>G (p.Asn731Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001364997] Chr4:39232211 [GRCh38]
Chr4:39233831 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1234G>A (p.Val412Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001297166]|Asphyxiating thoracic dystrophy 5 [RCV002486135] Chr4:39216195 [GRCh38]
Chr4:39217815 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3151G>T (p.Asp1051Tyr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001321978] Chr4:39257522 [GRCh38]
Chr4:39259142 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1442A>G (p.His481Arg) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002251760]|Nephronophthisis 13 [RCV001281113]|Saldino-Mainzer syndrome [RCV001290087] Chr4:39218068 [GRCh38]
Chr4:39219688 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic
NM_025132.4(WDR19):c.636T>G (p.Phe212Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001322005] Chr4:39205186 [GRCh38]
Chr4:39206806 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1679G>A (p.Gly560Asp) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001315983] Chr4:39228259 [GRCh38]
Chr4:39229879 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3946A>C (p.Met1316Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001322129] Chr4:39278567 [GRCh38]
Chr4:39280187 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.727G>A (p.Gly243Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001347262] Chr4:39205573 [GRCh38]
Chr4:39207193 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3160G>A (p.Ala1054Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001361709]|WDR19-related disorder [RCV004734144] Chr4:39257531 [GRCh38]
Chr4:39259151 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3434C>T (p.Ser1145Phe) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001352413]|Inborn genetic diseases [RCV004036685] Chr4:39270051 [GRCh38]
Chr4:39271671 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1567G>A (p.Asp523Asn) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001320838]|not provided [RCV004762079] Chr4:39224971 [GRCh38]
Chr4:39226591 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3311A>T (p.Glu1104Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001359126] Chr4:39268044 [GRCh38]
Chr4:39269664 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2332T>A (p.Ser778Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001350317] Chr4:39234844 [GRCh38]
Chr4:39236464 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3521G>A (p.Arg1174His) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001306032]|Inborn genetic diseases [RCV002543150]|WDR19-related disorder [RCV004734108] Chr4:39273017 [GRCh38]
Chr4:39274637 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1294A>G (p.Ser432Gly) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001299515]|Inborn genetic diseases [RCV003263931] Chr4:39217178 [GRCh38]
Chr4:39218798 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.326G>A (p.Gly109Glu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001302441]|Asphyxiating thoracic dystrophy 5 [RCV002504454] Chr4:39194579 [GRCh38]
Chr4:39196199 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3049T>G (p.Phe1017Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001313707]|Asphyxiating thoracic dystrophy 5 [RCV002486223]|Inborn genetic diseases [RCV002543630]|Retinitis pigmentosa [RCV001724291] Chr4:39255895 [GRCh38]
Chr4:39257515 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1488C>A (p.Val496=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001364276] Chr4:39224892 [GRCh38]
Chr4:39226512 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.1716A>G (p.Val572=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001343214] Chr4:39228296 [GRCh38]
Chr4:39229916 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1904A>G (p.His635Arg) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001364390]|Inborn genetic diseases [RCV002550045] Chr4:39228612 [GRCh38]
Chr4:39230232 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1673T>C (p.Ile558Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001301232] Chr4:39228253 [GRCh38]
Chr4:39229873 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2990C>A (p.Ala997Glu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001366100] Chr4:39254019 [GRCh38]
Chr4:39255639 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.4004A>G (p.Tyr1335Cys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001325200] Chr4:39278625 [GRCh38]
Chr4:39280245 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2464A>G (p.Ile822Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001313901]|Asphyxiating thoracic dystrophy 5 [RCV002476453] Chr4:39244290 [GRCh38]
Chr4:39245910 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.2421+5C>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001324716] Chr4:39240339 [GRCh38]
Chr4:39241959 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3001+3A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001371050] Chr4:39254033 [GRCh38]
Chr4:39255653 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2674G>A (p.Val892Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001306476]|Inborn genetic diseases [RCV003166743] Chr4:39245397 [GRCh38]
Chr4:39247017 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3061_3062del (p.Lys1021fs) deletion Cranioectodermal dysplasia 4 [RCV001336688] Chr4:39255905..39255906 [GRCh38]
Chr4:39257525..39257526 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.931G>A (p.Val311Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001340572] Chr4:39214641 [GRCh38]
Chr4:39216261 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3464A>C (p.His1155Pro) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001372063]|Retinitis pigmentosa [RCV001724304] Chr4:39270081 [GRCh38]
Chr4:39271701 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1942G>A (p.Glu648Lys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001372086] Chr4:39228650 [GRCh38]
Chr4:39230270 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1384GAA[1] (p.Glu463del) microsatellite Asphyxiating thoracic dystrophy 5 [RCV001359361] Chr4:39218008..39218010 [GRCh38]
Chr4:39219628..39219630 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3029A>G (p.Tyr1010Cys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001369039]|Asphyxiating thoracic dystrophy 5 [RCV002504613] Chr4:39255875 [GRCh38]
Chr4:39257495 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1576G>A (p.Gly526Arg) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001295548] Chr4:39224980 [GRCh38]
Chr4:39226600 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2730-5del deletion Asphyxiating thoracic dystrophy 5 [RCV001513585] Chr4:39253135 [GRCh38]
Chr4:39254755 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.3378C>T (p.His1126=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001458216] Chr4:39269995 [GRCh38]
Chr4:39271615 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3630T>C (p.Ala1210=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001475281] Chr4:39274872 [GRCh38]
Chr4:39276492 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1638C>T (p.Asp546=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001425170] Chr4:39228218 [GRCh38]
Chr4:39229838 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2364-4del deletion Asphyxiating thoracic dystrophy 5 [RCV001519487]|Asphyxiating thoracic dystrophy 5 [RCV002495826]|not provided [RCV003120618] Chr4:39240265 [GRCh38]
Chr4:39241885 [GRCh37]
Chr4:4p14		 benign|likely benign
NM_025132.4(WDR19):c.609T>C (p.Ser203=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001505662] Chr4:39205159 [GRCh38]
Chr4:39206779 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1911_1914del (p.Phe637fs) deletion Asphyxiating thoracic dystrophy 5 [RCV001386038] Chr4:39228619..39228622 [GRCh38]
Chr4:39230239..39230242 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.3369G>A (p.Arg1123=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001475779] Chr4:39269986 [GRCh38]
Chr4:39271606 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2607C>T (p.Tyr869=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001487560]|Asphyxiating thoracic dystrophy 5 [RCV002501675] Chr4:39244514 [GRCh38]
Chr4:39246134 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3262-2A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001379466] Chr4:39267993 [GRCh38]
Chr4:39269613 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_025132.4(WDR19):c.2007C>T (p.Cys669=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001429183] Chr4:39231821 [GRCh38]
Chr4:39233441 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1357-2A>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001377034] Chr4:39217981 [GRCh38]
Chr4:39219601 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_025132.4(WDR19):c.1357-8C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001401506]|Asphyxiating thoracic dystrophy 5 [RCV002499851] Chr4:39217975 [GRCh38]
Chr4:39219595 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1542T>C (p.Pro514=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001443324] Chr4:39224946 [GRCh38]
Chr4:39226566 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.7-196G>C single nucleotide variant not provided [RCV001537552] Chr4:39185530 [GRCh38]
Chr4:39187150 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.1269T>C (p.Asp423=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001432515] Chr4:39217153 [GRCh38]
Chr4:39218773 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3804T>C (p.Pro1268=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001443735] Chr4:39277107 [GRCh38]
Chr4:39278727 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2422-15G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001417022] Chr4:39244233 [GRCh38]
Chr4:39245853 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3354T>G (p.Ser1118=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001407355] Chr4:39268087 [GRCh38]
Chr4:39269707 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1086C>T (p.Ala362=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001424929] Chr4:39215965 [GRCh38]
Chr4:39217585 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3841-15A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001435857] Chr4:39278116 [GRCh38]
Chr4:39279736 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2364-16C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001409916] Chr4:39240261 [GRCh38]
Chr4:39241881 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1249+9A>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001417281] Chr4:39216219 [GRCh38]
Chr4:39217839 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3358+16G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001407750]|not provided [RCV004711597] Chr4:39268107 [GRCh38]
Chr4:39269727 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3750G>A (p.Thr1250=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001428781] Chr4:39277053 [GRCh38]
Chr4:39278673 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.75A>G (p.Ser25=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001440242] Chr4:39185794 [GRCh38]
Chr4:39187414 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.4026G>A (p.Leu1342=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001403731] Chr4:39278647 [GRCh38]
Chr4:39280267 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.6+6_6+8del deletion Asphyxiating thoracic dystrophy 5 [RCV001411433]|Asphyxiating thoracic dystrophy 5 [RCV002499881] Chr4:39182567..39182569 [GRCh38]
Chr4:39184187..39184189 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.890+10T>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001419589] Chr4:39205746 [GRCh38]
Chr4:39207366 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1122_1123insT (p.Pro375fs) insertion Asphyxiating thoracic dystrophy 5 [RCV001384582]|WDR19-related disorder [RCV004734164]|not provided [RCV003325573] Chr4:39216001..39216002 [GRCh38]
Chr4:39217621..39217622 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.2247C>T (p.Ala749=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001409185] Chr4:39232266 [GRCh38]
Chr4:39233886 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2601_2602dup (p.Tyr868fs) microsatellite Asphyxiating thoracic dystrophy 5 [RCV001536016]|Asphyxiating thoracic dystrophy 5 [RCV003771654] Chr4:39244504..39244505 [GRCh38]
Chr4:39246124..39246125 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic
NM_025132.4(WDR19):c.3684C>G (p.Ala1228=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001436984] Chr4:39274926 [GRCh38]
Chr4:39276546 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.6+9C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001409158] Chr4:39182572 [GRCh38]
Chr4:39184192 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2351_2361del (p.Gln784fs) deletion Asphyxiating thoracic dystrophy 5 [RCV001380200] Chr4:39234859..39234869 [GRCh38]
Chr4:39236479..39236489 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.2253+59A>G single nucleotide variant not provided [RCV001717097] Chr4:39232331 [GRCh38]
Chr4:39233951 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.1881A>T (p.Val627=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001501935] Chr4:39228589 [GRCh38]
Chr4:39230209 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1630-59G>A single nucleotide variant not provided [RCV001686178] Chr4:39228151 [GRCh38]
Chr4:39229771 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.2151G>A (p.Glu717=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001468823]|not provided [RCV001726563]|not specified [RCV001699791] Chr4:39232170 [GRCh38]
Chr4:39233790 [GRCh37]
Chr4:4p14		 benign|likely benign
NM_025132.4(WDR19):c.1983-8_1983-7delinsAT indel Asphyxiating thoracic dystrophy 5 [RCV001483107] Chr4:39231789..39231790 [GRCh38]
Chr4:39233409..39233410 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3246C>T (p.Asn1082=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001462674] Chr4:39266125 [GRCh38]
Chr4:39267745 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3565+15C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001504019] Chr4:39273076 [GRCh38]
Chr4:39274696 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.81C>T (p.Asn27=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001504381] Chr4:39185800 [GRCh38]
Chr4:39187420 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.523-19G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001477602] Chr4:39203623 [GRCh38]
Chr4:39205243 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3483+193T>C single nucleotide variant not provided [RCV001644545] Chr4:39270293 [GRCh38]
Chr4:39271913 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.290+115C>T single nucleotide variant not provided [RCV001716139] Chr4:39189896 [GRCh38]
Chr4:39191516 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.291-177A>G single nucleotide variant not provided [RCV001716419] Chr4:39194367 [GRCh38]
Chr4:39195987 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.3723C>T (p.Pro1241=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001472841] Chr4:39277026 [GRCh38]
Chr4:39278646 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1350A>G (p.Leu450=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001481296]|Asphyxiating thoracic dystrophy 5 [RCV002501660] Chr4:39217234 [GRCh38]
Chr4:39218854 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2454C>T (p.Ala818=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001481407]|not provided [RCV001528707]|not specified [RCV001699553] Chr4:39244280 [GRCh38]
Chr4:39245900 [GRCh37]
Chr4:4p14		 benign|likely benign
NM_025132.4(WDR19):c.1962A>G (p.Ala654=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001431426]|Asphyxiating thoracic dystrophy 5 [RCV002504710] Chr4:39228670 [GRCh38]
Chr4:39230290 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.604-5_604-4del deletion Asphyxiating thoracic dystrophy 5 [RCV001502315]|WDR19-related disorder [RCV004540460] Chr4:39205149..39205150 [GRCh38]
Chr4:39206769..39206770 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2646-5T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001442749]|Asphyxiating thoracic dystrophy 5 [RCV002501560] Chr4:39245364 [GRCh38]
Chr4:39246984 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1135-18C>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001510277] Chr4:39216078 [GRCh38]
Chr4:39217698 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.2363+11G>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001501966] Chr4:39234886 [GRCh38]
Chr4:39236506 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3762A>C (p.Pro1254=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001484676] Chr4:39277065 [GRCh38]
Chr4:39278685 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2973C>T (p.Asn991=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001461445] Chr4:39254002 [GRCh38]
Chr4:39255622 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1039C>T (p.Leu347=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001513614]|Asphyxiating thoracic dystrophy 5 [RCV002506604]|WDR19-related disorder [RCV004533926]|not provided [RCV004716723] Chr4:39215918 [GRCh38]
Chr4:39217538 [GRCh37]
Chr4:4p14		 benign|likely benign
NM_025132.4(WDR19):c.228T>C (p.Ser76=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001406446] Chr4:39189719 [GRCh38]
Chr4:39191339 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1752T>C (p.Tyr584=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001406454]|Asphyxiating thoracic dystrophy 5 [RCV002488222] Chr4:39228332 [GRCh38]
Chr4:39229952 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3615C>T (p.Gly1205=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001400157]|not provided [RCV001796479] Chr4:39274857 [GRCh38]
Chr4:39276477 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.98+14G>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001400158] Chr4:39185831 [GRCh38]
Chr4:39187451 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2274T>C (p.His758=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001498840] Chr4:39234786 [GRCh38]
Chr4:39236406 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2877-12A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001423866]|Asphyxiating thoracic dystrophy 5 [RCV002499914] Chr4:39253894 [GRCh38]
Chr4:39255514 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.388C>T (p.Arg130Ter) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001383659] Chr4:39194641 [GRCh38]
Chr4:39196261 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.1740G>A (p.Lys580=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001483644] Chr4:39228320 [GRCh38]
Chr4:39229940 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1479+2T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001379131] Chr4:39218107 [GRCh38]
Chr4:39219727 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_025132.4(WDR19):c.1041G>A (p.Leu347=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001426381] Chr4:39215920 [GRCh38]
Chr4:39217540 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3043T>C (p.Leu1015=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001426383] Chr4:39255889 [GRCh38]
Chr4:39257509 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.795T>C (p.Gly265=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001435410]|WDR19-related disorder [RCV004540323] Chr4:39205641 [GRCh38]
Chr4:39207261 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2415T>C (p.Asp805=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001399075] Chr4:39240328 [GRCh38]
Chr4:39241948 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.78A>G (p.Gly26=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001460029] Chr4:39185797 [GRCh38]
Chr4:39187417 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.513G>T (p.Thr171=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001456692]|Asphyxiating thoracic dystrophy 5 [RCV002501600] Chr4:39199584 [GRCh38]
Chr4:39201204 [GRCh37]
Chr4:4p14		 likely benign
A914D variation Asphyxiating thoracic dystrophy 5 [RCV002248398]   pathogenic
GRCh37/hg19 4p14(chr4:39205299-39489677)x3 copy number gain not provided [RCV001834225] Chr4:39205299..39489677 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1853T>C (p.Leu618Pro) single nucleotide variant Nephronophthisis 13 [RCV002248394] Chr4:39228561 [GRCh38]
Chr4:39230181 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.248dup (p.Asp83fs) duplication not provided [RCV001785136] Chr4:39189738..39189739 [GRCh38]
Chr4:39191358..39191359 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.916T>C (p.Leu306=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002077225]|not provided [RCV001796929]|not specified [RCV001795526] Chr4:39214626 [GRCh38]
Chr4:39216246 [GRCh37]
Chr4:4p14		 benign|likely benign
NM_025132.4(WDR19):c.717-11C>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003772208]|not provided [RCV001811704] Chr4:39205552 [GRCh38]
Chr4:39207172 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2635T>C (p.Ser879Pro) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001929370]|Inborn genetic diseases [RCV004681330] Chr4:39244542 [GRCh38]
Chr4:39246162 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.277G>C (p.Asp93His) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001863719] Chr4:39189768 [GRCh38]
Chr4:39191388 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1327C>A (p.Leu443Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001891170] Chr4:39217211 [GRCh38]
Chr4:39218831 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2237C>G (p.Pro746Arg) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002044647] Chr4:39232256 [GRCh38]
Chr4:39233876 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.632dup (p.Leu211fs) duplication Asphyxiating thoracic dystrophy 5 [RCV001987849] Chr4:39205179..39205180 [GRCh38]
Chr4:39206799..39206800 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.738G>A (p.Met246Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002008261] Chr4:39205584 [GRCh38]
Chr4:39207204 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3449A>C (p.Asn1150Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001988466] Chr4:39270066 [GRCh38]
Chr4:39271686 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3358+12A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001971428] Chr4:39268103 [GRCh38]
Chr4:39269723 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1931C>T (p.Thr644Met) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001875049]|not provided [RCV003438884] Chr4:39228639 [GRCh38]
Chr4:39230259 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3443C>T (p.Ala1148Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002008910]|Inborn genetic diseases [RCV002579686] Chr4:39270060 [GRCh38]
Chr4:39271680 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3521G>T (p.Arg1174Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001988808] Chr4:39273017 [GRCh38]
Chr4:39274637 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2880T>G (p.Phe960Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002045007] Chr4:39253909 [GRCh38]
Chr4:39255529 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1342G>C (p.Val448Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001929224] Chr4:39217226 [GRCh38]
Chr4:39218846 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1841A>G (p.Tyr614Cys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001948279]|Asphyxiating thoracic dystrophy 5 [RCV002491959] Chr4:39228549 [GRCh38]
Chr4:39230169 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1919A>C (p.Asn640Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002044808] Chr4:39228627 [GRCh38]
Chr4:39230247 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1581C>G (p.Thr527=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001914616] Chr4:39224985 [GRCh38]
Chr4:39226605 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.288G>A (p.Met96Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002008817]|not provided [RCV003120795] Chr4:39189779 [GRCh38]
Chr4:39191399 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.441G>A (p.Trp147Ter) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002007147]|WDR19-related disorder [RCV004542198] Chr4:39199512 [GRCh38]
Chr4:39201132 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic
NM_025132.4(WDR19):c.328A>G (p.Ser110Gly) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002003156] Chr4:39194581 [GRCh38]
Chr4:39196201 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3358+3A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001970414] Chr4:39268094 [GRCh38]
Chr4:39269714 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2030C>T (p.Ala677Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001987559] Chr4:39231844 [GRCh38]
Chr4:39233464 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1486G>A (p.Val496Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001967114]|Asphyxiating thoracic dystrophy 5 [RCV002491965]|Inborn genetic diseases [RCV002560616] Chr4:39224890 [GRCh38]
Chr4:39226510 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3156T>G (p.Asn1052Lys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001890920] Chr4:39257527 [GRCh38]
Chr4:39259147 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3633C>G (p.Phe1211Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001926969] Chr4:39274875 [GRCh38]
Chr4:39276495 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.165-6T>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001983188] Chr4:39189650 [GRCh38]
Chr4:39191270 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.2941A>C (p.Asn981His) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001983112] Chr4:39253970 [GRCh38]
Chr4:39255590 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1810G>T (p.Val604Phe) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001912963] Chr4:39228518 [GRCh38]
Chr4:39230138 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.43G>A (p.Ala15Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001911558] Chr4:39185762 [GRCh38]
Chr4:39187382 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2668C>T (p.Pro890Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001948051] Chr4:39245391 [GRCh38]
Chr4:39247011 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.977C>G (p.Ser326Cys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001986237]|Asphyxiating thoracic dystrophy 5 [RCV002492274] Chr4:39215856 [GRCh38]
Chr4:39217476 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.404T>C (p.Leu135Pro) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001985381] Chr4:39194657 [GRCh38]
Chr4:39196277 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p14(chr4:38717326-39382906) copy number gain not specified [RCV002053412] Chr4:38717326..39382906 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.234C>A (p.Cys78Ter) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001946837] Chr4:39189725 [GRCh38]
Chr4:39191345 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.1919A>T (p.Asn640Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001947313] Chr4:39228627 [GRCh38]
Chr4:39230247 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2562+4C>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002021013] Chr4:39244392 [GRCh38]
Chr4:39246012 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1951C>G (p.Pro651Ala) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001966881] Chr4:39228659 [GRCh38]
Chr4:39230279 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001890451]|Asphyxiating thoracic dystrophy 5 [RCV002503474] Chr4:39268052 [GRCh38]
Chr4:39269672 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic
NM_025132.4(WDR19):c.2364-18C>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001945939] Chr4:39240259 [GRCh38]
Chr4:39241879 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.3959G>C (p.Arg1320Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001912241] Chr4:39278580 [GRCh38]
Chr4:39280200 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.11T>C (p.Ile4Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001892427] Chr4:39185730 [GRCh38]
Chr4:39187350 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2302C>A (p.His768Asn) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001893126] Chr4:39234814 [GRCh38]
Chr4:39236434 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.603+17A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002006435] Chr4:39203739 [GRCh38]
Chr4:39205359 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.7-5T>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001970496] Chr4:39185721 [GRCh38]
Chr4:39187341 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2481dup (p.Arg828fs) duplication Asphyxiating thoracic dystrophy 5 [RCV001913249] Chr4:39244306..39244307 [GRCh38]
Chr4:39245926..39245927 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.716+4T>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001914348] Chr4:39205270 [GRCh38]
Chr4:39206890 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.98+5G>T single nucleotide variant Cranioectodermal dysplasia 4 [RCV003234978] Chr4:39185822 [GRCh38]
Chr4:39187442 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3483+1G>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002024085] Chr4:39270101 [GRCh38]
Chr4:39271721 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_025132.4(WDR19):c.410A>G (p.Lys137Arg) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001889708] Chr4:39199481 [GRCh38]
Chr4:39201101 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2521G>A (p.Val841Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002024493] Chr4:39244347 [GRCh38]
Chr4:39245967 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.4014G>A (p.Thr1338=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001910564]|Asphyxiating thoracic dystrophy 5 [RCV002484542] Chr4:39278635 [GRCh38]
Chr4:39280255 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.512C>T (p.Thr171Met) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001873053]|Asphyxiating thoracic dystrophy 5 [RCV002506930] Chr4:39199583 [GRCh38]
Chr4:39201203 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.4006_4013del (p.Leu1336fs) deletion Asphyxiating thoracic dystrophy 5 [RCV001928655] Chr4:39278625..39278632 [GRCh38]
Chr4:39280245..39280252 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1168C>A (p.Pro390Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001928037]|Asphyxiating thoracic dystrophy 5 [RCV002507029] Chr4:39216129 [GRCh38]
Chr4:39217749 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3491T>A (p.Val1164Asp) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002002865] Chr4:39272987 [GRCh38]
Chr4:39274607 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3993C>G (p.Asp1331Glu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002022825] Chr4:39278614 [GRCh38]
Chr4:39280234 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3355G>A (p.Ala1119Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002022224] Chr4:39268088 [GRCh38]
Chr4:39269708 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.667G>A (p.Ala223Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001982689] Chr4:39205217 [GRCh38]
Chr4:39206837 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2404A>G (p.Ile802Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002006016] Chr4:39240317 [GRCh38]
Chr4:39241937 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3646A>G (p.Met1216Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001907993]|Asphyxiating thoracic dystrophy 5 [RCV002478190]|Inborn genetic diseases [RCV004681281] Chr4:39274888 [GRCh38]
Chr4:39276508 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3000T>C (p.Ile1000=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002043196] Chr4:39254029 [GRCh38]
Chr4:39255649 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.292G>T (p.Asp98Tyr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001911034]|WDR19-related disorder [RCV004529036] Chr4:39194545 [GRCh38]
Chr4:39196165 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2828A>C (p.Asn943Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002004645] Chr4:39253244 [GRCh38]
Chr4:39254864 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.186G>C (p.Trp62Cys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002005794] Chr4:39189677 [GRCh38]
Chr4:39191297 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2908G>A (p.Ala970Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001886582] Chr4:39253937 [GRCh38]
Chr4:39255557 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3964A>C (p.Asn1322His) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001980344] Chr4:39278585 [GRCh38]
Chr4:39280205 [GRCh37]
Chr4:4p14		 uncertain significance
NC_000004.11:g.(?_39257448)_(39257600_?)del deletion Asphyxiating thoracic dystrophy 5 [RCV001972691] Chr4:39257448..39257600 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.3926A>T (p.Asn1309Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002000368] Chr4:39278547 [GRCh38]
Chr4:39280167 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3110C>T (p.Ser1037Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002001206] Chr4:39255956 [GRCh38]
Chr4:39257576 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2167G>C (p.Ala723Pro) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001922172] Chr4:39232186 [GRCh38]
Chr4:39233806 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1816T>C (p.Phe606Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002010538] Chr4:39228524 [GRCh38]
Chr4:39230144 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.200A>G (p.Asp67Gly) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001942780] Chr4:39189691 [GRCh38]
Chr4:39191311 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3636C>G (p.Ser1212Arg) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001961881] Chr4:39274878 [GRCh38]
Chr4:39276498 [GRCh37]
Chr4:4p14		 uncertain significance
NC_000004.11:g.(?_39184178)_(39184203_?)del deletion Asphyxiating thoracic dystrophy 5 [RCV001941814] Chr4:39184178..39184203 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.149_150insGT (p.Glu50_Ile51insTer) insertion Asphyxiating thoracic dystrophy 5 [RCV002037822] Chr4:39186589..39186590 [GRCh38]
Chr4:39188209..39188210 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.3466A>G (p.Ser1156Gly) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001943356] Chr4:39270083 [GRCh38]
Chr4:39271703 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1711G>A (p.Gly571Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001998307] Chr4:39228291 [GRCh38]
Chr4:39229911 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.716+12A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002035648] Chr4:39205278 [GRCh38]
Chr4:39206898 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2189C>T (p.Thr730Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001925503]|Asphyxiating thoracic dystrophy 5 [RCV002478330] Chr4:39232208 [GRCh38]
Chr4:39233828 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2236C>T (p.Pro746Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002026338] Chr4:39232255 [GRCh38]
Chr4:39233875 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2632C>T (p.Arg878Cys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001887010]|not provided [RCV003434343] Chr4:39244539 [GRCh38]
Chr4:39246159 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.233G>A (p.Cys78Tyr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001996873] Chr4:39189724 [GRCh38]
Chr4:39191344 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.290+20T>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001960816] Chr4:39189801 [GRCh38]
Chr4:39191421 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3001+6T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001943611] Chr4:39254036 [GRCh38]
Chr4:39255656 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2629A>C (p.Ile877Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001881591] Chr4:39244536 [GRCh38]
Chr4:39246156 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.77G>C (p.Gly26Ala) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001998451] Chr4:39185796 [GRCh38]
Chr4:39187416 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1749T>G (p.Thr583=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001870243] Chr4:39228329 [GRCh38]
Chr4:39229949 [GRCh37]
Chr4:4p14		 uncertain significance
NC_000004.11:g.(?_38765721)_(41750627_?)dup duplication Lipoic acid synthetase deficiency [RCV003107887] Chr4:38765721..41750627 [GRCh37]
Chr4:4p14-13		 uncertain significance
NM_025132.4(WDR19):c.1232A>G (p.Tyr411Cys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002010305] Chr4:39216193 [GRCh38]
Chr4:39217813 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3184-2A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002050681] Chr4:39266061 [GRCh38]
Chr4:39267681 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_025132.4(WDR19):c.812C>T (p.Ala271Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002029401] Chr4:39205658 [GRCh38]
Chr4:39207278 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2455C>A (p.Gln819Lys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001976830]|Asphyxiating thoracic dystrophy 5 [RCV002479650]|Inborn genetic diseases [RCV003303556] Chr4:39244281 [GRCh38]
Chr4:39245901 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3068A>G (p.Tyr1023Cys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002032914] Chr4:39255914 [GRCh38]
Chr4:39257534 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1778-2A>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002029683] Chr4:39228484 [GRCh38]
Chr4:39230104 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_025132.4(WDR19):c.2377A>G (p.Asn793Asp) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001896967] Chr4:39240290 [GRCh38]
Chr4:39241910 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3702C>G (p.Ile1234Met) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001936551]|Inborn genetic diseases [RCV003339832] Chr4:39274944 [GRCh38]
Chr4:39276564 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2954C>A (p.Thr985Lys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001867543]|Asphyxiating thoracic dystrophy 5 [RCV002482559] Chr4:39253983 [GRCh38]
Chr4:39255603 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1762A>G (p.Lys588Glu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001866431] Chr4:39228342 [GRCh38]
Chr4:39229962 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2253G>T (p.Glu751Asp) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001921404] Chr4:39232272 [GRCh38]
Chr4:39233892 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2450T>A (p.Val817Glu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001867840]|Asphyxiating thoracic dystrophy 5 [RCV002478174] Chr4:39244276 [GRCh38]
Chr4:39245896 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2785C>T (p.Arg929Cys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001897257] Chr4:39253201 [GRCh38]
Chr4:39254821 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2472G>A (p.Met824Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001864968] Chr4:39244298 [GRCh38]
Chr4:39245918 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2648C>T (p.Ala883Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001867770] Chr4:39245371 [GRCh38]
Chr4:39246991 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.197G>A (p.Gly66Glu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001934527] Chr4:39189688 [GRCh38]
Chr4:39191308 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2347A>G (p.Ile783Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002048880] Chr4:39234859 [GRCh38]
Chr4:39236479 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2681C>T (p.Ser894Phe) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001977772] Chr4:39245404 [GRCh38]
Chr4:39247024 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3281G>A (p.Arg1094His) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001917535]|Asphyxiating thoracic dystrophy 5 [RCV002482707] Chr4:39268014 [GRCh38]
Chr4:39269634 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2597G>A (p.Gly866Asp) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001989515] Chr4:39244504 [GRCh38]
Chr4:39246124 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1121A>G (p.Asn374Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001917594] Chr4:39216000 [GRCh38]
Chr4:39217620 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2T>C (p.Met1Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002030665] Chr4:39182559 [GRCh38]
Chr4:39184179 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3681T>G (p.Asp1227Glu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001921401] Chr4:39274923 [GRCh38]
Chr4:39276543 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3188G>T (p.Gly1063Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001976623] Chr4:39266067 [GRCh38]
Chr4:39267687 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3513A>T (p.Lys1171Asn) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002036121] Chr4:39273009 [GRCh38]
Chr4:39274629 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3236T>C (p.Leu1079Pro) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002031794] Chr4:39266115 [GRCh38]
Chr4:39267735 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3834T>G (p.Ile1278Met) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001996491] Chr4:39277137 [GRCh38]
Chr4:39278757 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3391A>G (p.Ser1131Gly) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002028313] Chr4:39270008 [GRCh38]
Chr4:39271628 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.717-1G>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002010585] Chr4:39205562 [GRCh38]
Chr4:39207182 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_025132.4(WDR19):c.2272C>A (p.His758Asn) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001952007] Chr4:39234784 [GRCh38]
Chr4:39236404 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3367C>T (p.Arg1123Trp) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001978789]|Inborn genetic diseases [RCV003339846] Chr4:39269984 [GRCh38]
Chr4:39271604 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1993G>C (p.Ala665Pro) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001998324]|Nephronophthisis 13 [RCV004577559] Chr4:39231807 [GRCh38]
Chr4:39233427 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3114+3T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002036781]|Asphyxiating thoracic dystrophy 5 [RCV002479839] Chr4:39255963 [GRCh38]
Chr4:39257583 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1016A>G (p.Gln339Arg) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002029775]|Asphyxiating thoracic dystrophy 5 [RCV002506871]|Inborn genetic diseases [RCV004681259] Chr4:39215895 [GRCh38]
Chr4:39217515 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2978T>C (p.Met993Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002013303] Chr4:39254007 [GRCh38]
Chr4:39255627 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.359A>T (p.Asn120Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001977822] Chr4:39194612 [GRCh38]
Chr4:39196232 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3184-3C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002016466] Chr4:39266060 [GRCh38]
Chr4:39267680 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3579C>G (p.Ile1193Met) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002017772]|Asphyxiating thoracic dystrophy 5 [RCV002479765] Chr4:39274821 [GRCh38]
Chr4:39276441 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.621C>T (p.Gly207=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001957919] Chr4:39205171 [GRCh38]
Chr4:39206791 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1012A>T (p.Thr338Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001905360] Chr4:39215891 [GRCh38]
Chr4:39217511 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1182A>G (p.Ala394=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002051209] Chr4:39216143 [GRCh38]
Chr4:39217763 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.673C>A (p.Leu225Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002031297] Chr4:39205223 [GRCh38]
Chr4:39206843 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.956A>G (p.Asn319Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001996686]|not provided [RCV002469439] Chr4:39214666 [GRCh38]
Chr4:39216286 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2684C>A (p.Pro895His) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001917242] Chr4:39245407 [GRCh38]
Chr4:39247027 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3520C>A (p.Arg1174Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002030246] Chr4:39273016 [GRCh38]
Chr4:39274636 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2066T>C (p.Met689Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001925455]|Asphyxiating thoracic dystrophy 5 [RCV002482809]|not provided [RCV004693919] Chr4:39231880 [GRCh38]
Chr4:39233500 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3847C>T (p.His1283Tyr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001897404] Chr4:39278137 [GRCh38]
Chr4:39279757 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1150G>A (p.Val384Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001977359] Chr4:39216111 [GRCh38]
Chr4:39217731 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2933A>G (p.Lys978Arg) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001998068] Chr4:39253962 [GRCh38]
Chr4:39255582 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.814C>T (p.Arg272Cys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001883110]|Asphyxiating thoracic dystrophy 5 [RCV002482598] Chr4:39205660 [GRCh38]
Chr4:39207280 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.6+3A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001905657]|Asphyxiating thoracic dystrophy 5 [RCV002482670] Chr4:39182566 [GRCh38]
Chr4:39184186 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1944A>T (p.Glu648Asp) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001897688] Chr4:39228652 [GRCh38]
Chr4:39230272 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.890+1G>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001978430] Chr4:39205737 [GRCh38]
Chr4:39207357 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_025132.4(WDR19):c.3966C>A (p.Asn1322Lys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001932061] Chr4:39278587 [GRCh38]
Chr4:39280207 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2385G>A (p.Leu795=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001903480] Chr4:39240298 [GRCh38]
Chr4:39241918 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.891-1_891delinsAT indel Asphyxiating thoracic dystrophy 5 [RCV001981036] Chr4:39214600..39214601 [GRCh38]
Chr4:39216220..39216221 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_025132.4(WDR19):c.3545A>G (p.Asn1182Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001882160]|not provided [RCV004693889] Chr4:39273041 [GRCh38]
Chr4:39274661 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2972A>G (p.Asn991Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002034369] Chr4:39254001 [GRCh38]
Chr4:39255621 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1391G>A (p.Arg464His) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001905535]|Asphyxiating thoracic dystrophy 5 [RCV002478244]|Inborn genetic diseases [RCV004041364] Chr4:39218017 [GRCh38]
Chr4:39219637 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2479A>G (p.Ile827Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002019892] Chr4:39244305 [GRCh38]
Chr4:39245925 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3280C>T (p.Arg1094Cys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002010536]|Asphyxiating thoracic dystrophy 5 [RCV002479727]|Inborn genetic diseases [RCV004045951] Chr4:39268013 [GRCh38]
Chr4:39269633 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.4010G>A (p.Arg1337Gln) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001940827] Chr4:39278631 [GRCh38]
Chr4:39280251 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3395T>G (p.Met1132Arg) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001975481] Chr4:39270012 [GRCh38]
Chr4:39271632 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.4009C>G (p.Arg1337Gly) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001955403] Chr4:39278630 [GRCh38]
Chr4:39280250 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.371A>G (p.Tyr124Cys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001952941] Chr4:39194624 [GRCh38]
Chr4:39196244 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1342G>A (p.Val448Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001917730] Chr4:39217226 [GRCh38]
Chr4:39218846 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3869C>T (p.Thr1290Met) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001975636] Chr4:39278159 [GRCh38]
Chr4:39279779 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3640G>A (p.Ala1214Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001989182] Chr4:39274882 [GRCh38]
Chr4:39276502 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.841A>C (p.Ile281Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001990197] Chr4:39205687 [GRCh38]
Chr4:39207307 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1385A>T (p.Glu462Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001900030] Chr4:39218011 [GRCh38]
Chr4:39219631 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.427A>T (p.Thr143Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001875235] Chr4:39199498 [GRCh38]
Chr4:39201118 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1323T>A (p.Ala441=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002029112] Chr4:39217207 [GRCh38]
Chr4:39218827 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1537C>A (p.His513Asn) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002013616] Chr4:39224941 [GRCh38]
Chr4:39226561 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3668G>A (p.Arg1223His) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001919686] Chr4:39274910 [GRCh38]
Chr4:39276530 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2779G>A (p.Val927Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002032092]|Asphyxiating thoracic dystrophy 5 [RCV002486793] Chr4:39253195 [GRCh38]
Chr4:39254815 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2074G>C (p.Glu692Gln) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001877734] Chr4:39231888 [GRCh38]
Chr4:39233508 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.65A>C (p.Gln22Pro) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001955287] Chr4:39185784 [GRCh38]
Chr4:39187404 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2618C>T (p.Ala873Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV001990516]|Asphyxiating thoracic dystrophy 5 [RCV002484837] Chr4:39244525 [GRCh38]
Chr4:39246145 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3114+10T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002085499] Chr4:39255970 [GRCh38]
Chr4:39257590 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2370T>C (p.Asp790=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002166220] Chr4:39240283 [GRCh38]
Chr4:39241903 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1479+17T>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002075693] Chr4:39218122 [GRCh38]
Chr4:39219742 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.234C>T (p.Cys78=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002108927] Chr4:39189725 [GRCh38]
Chr4:39191345 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3399T>C (p.Tyr1133=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002168591] Chr4:39270016 [GRCh38]
Chr4:39271636 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3918-8del deletion Asphyxiating thoracic dystrophy 5 [RCV002074572] Chr4:39278528 [GRCh38]
Chr4:39280148 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1983-15G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002192658] Chr4:39231782 [GRCh38]
Chr4:39233402 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1722T>A (p.Ile574=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002087897] Chr4:39228302 [GRCh38]
Chr4:39229922 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.426C>T (p.Ile142=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002107503] Chr4:39199497 [GRCh38]
Chr4:39201117 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3358+14A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002187253]|Asphyxiating thoracic dystrophy 5 [RCV002498173] Chr4:39268105 [GRCh38]
Chr4:39269725 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2766A>G (p.Lys922=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002187169] Chr4:39253182 [GRCh38]
Chr4:39254802 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3261+20C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002125023]|Asphyxiating thoracic dystrophy 5 [RCV002486903] Chr4:39266160 [GRCh38]
Chr4:39267780 [GRCh37]
Chr4:4p14		 benign|likely benign
NM_025132.4(WDR19):c.2876+10T>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002076334]|Asphyxiating thoracic dystrophy 5 [RCV002508064] Chr4:39253302 [GRCh38]
Chr4:39254922 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.930T>C (p.Tyr310=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002149290] Chr4:39214640 [GRCh38]
Chr4:39216260 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.604-20C>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002207270] Chr4:39205134 [GRCh38]
Chr4:39206754 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2490G>T (p.Gly830=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002210768] Chr4:39244316 [GRCh38]
Chr4:39245936 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2563-13T>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002073952] Chr4:39244457 [GRCh38]
Chr4:39246077 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3900A>G (p.Leu1300=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002147123] Chr4:39278190 [GRCh38]
Chr4:39279810 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3566-9C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002147125] Chr4:39274799 [GRCh38]
Chr4:39276419 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2076G>A (p.Glu692=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002147387] Chr4:39231890 [GRCh38]
Chr4:39233510 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.522+13C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002126063]|Asphyxiating thoracic dystrophy 5 [RCV002500250] Chr4:39199606 [GRCh38]
Chr4:39201226 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2220C>T (p.Tyr740=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002129236]|WDR19-related disorder [RCV004543886] Chr4:39232239 [GRCh38]
Chr4:39233859 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1485T>G (p.Gly495=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002205121] Chr4:39224889 [GRCh38]
Chr4:39226509 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1134+16T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002209088] Chr4:39216029 [GRCh38]
Chr4:39217649 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3918-19del deletion Asphyxiating thoracic dystrophy 5 [RCV002089816] Chr4:39278519 [GRCh38]
Chr4:39280139 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1250-8T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002209968] Chr4:39217126 [GRCh38]
Chr4:39218746 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3801T>C (p.Cys1267=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002086119] Chr4:39277104 [GRCh38]
Chr4:39278724 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2421+10G>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002208448] Chr4:39240344 [GRCh38]
Chr4:39241964 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3942T>C (p.Cys1314=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002168511] Chr4:39278563 [GRCh38]
Chr4:39280183 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.962-11G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002132962]|Asphyxiating thoracic dystrophy 5 [RCV002494388] Chr4:39215830 [GRCh38]
Chr4:39217450 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2730-17G>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002174992] Chr4:39253129 [GRCh38]
Chr4:39254749 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3432C>G (p.Pro1144=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002174393] Chr4:39270049 [GRCh38]
Chr4:39271669 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.153T>A (p.Ile51=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002094740] Chr4:39186593 [GRCh38]
Chr4:39188213 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2142+8G>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002094858] Chr4:39231964 [GRCh38]
Chr4:39233584 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1777+12C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002111567] Chr4:39228369 [GRCh38]
Chr4:39229989 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.462T>C (p.Ala154=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002197006] Chr4:39199533 [GRCh38]
Chr4:39201153 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2646-8C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002149557] Chr4:39245361 [GRCh38]
Chr4:39246981 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2646-16G>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002077545]|Asphyxiating thoracic dystrophy 5 [RCV002498086] Chr4:39245353 [GRCh38]
Chr4:39246973 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2877-17A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002075700] Chr4:39253889 [GRCh38]
Chr4:39255509 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.406+14G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002195543] Chr4:39194673 [GRCh38]
Chr4:39196293 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2142+16T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002150677] Chr4:39231972 [GRCh38]
Chr4:39233592 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1431T>C (p.Arg477=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002170623] Chr4:39218057 [GRCh38]
Chr4:39219677 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3585G>A (p.Thr1195=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002086964] Chr4:39274827 [GRCh38]
Chr4:39276447 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2876+10T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002174225]|Asphyxiating thoracic dystrophy 5 [RCV002500372]|WDR19-related disorder [RCV004543906] Chr4:39253302 [GRCh38]
Chr4:39254922 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.99-12G>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002105621] Chr4:39186527 [GRCh38]
Chr4:39188147 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2876+8A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002071431] Chr4:39253300 [GRCh38]
Chr4:39254920 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2364-4dup duplication Asphyxiating thoracic dystrophy 5 [RCV002079642] Chr4:39240264..39240265 [GRCh38]
Chr4:39241884..39241885 [GRCh37]
Chr4:4p14		 benign
NM_025132.4(WDR19):c.3483+14A>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002196798] Chr4:39270114 [GRCh38]
Chr4:39271734 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1125T>G (p.Pro375=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002149729] Chr4:39216004 [GRCh38]
Chr4:39217624 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3147G>A (p.Ser1049=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002080479] Chr4:39257518 [GRCh38]
Chr4:39259138 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.164+12A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002095120] Chr4:39186616 [GRCh38]
Chr4:39188236 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1356+11T>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002171369] Chr4:39217251 [GRCh38]
Chr4:39218871 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2876+7_2876+8del deletion Asphyxiating thoracic dystrophy 5 [RCV002195166] Chr4:39253298..39253299 [GRCh38]
Chr4:39254918..39254919 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1836G>T (p.Leu612=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002095221] Chr4:39228544 [GRCh38]
Chr4:39230164 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.141A>G (p.Lys47=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002140703] Chr4:39186581 [GRCh38]
Chr4:39188201 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2645+16G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002218503] Chr4:39244568 [GRCh38]
Chr4:39246188 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2645+15C>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002197940] Chr4:39244567 [GRCh38]
Chr4:39246187 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2364-16C>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002179019] Chr4:39240261 [GRCh38]
Chr4:39241881 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2364-13del deletion Asphyxiating thoracic dystrophy 5 [RCV002136042] Chr4:39240264 [GRCh38]
Chr4:39241884 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.956del (p.Asn319fs) deletion Cranioectodermal dysplasia 4 [RCV002248395] Chr4:39214663 [GRCh38]
Chr4:39216283 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.962-12C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002219431] Chr4:39215829 [GRCh38]
Chr4:39217449 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3184-16dup duplication Asphyxiating thoracic dystrophy 5 [RCV002155181] Chr4:39266046..39266047 [GRCh38]
Chr4:39267666..39267667 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3184-14C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002102787] Chr4:39266049 [GRCh38]
Chr4:39267669 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3183+19A>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002155359] Chr4:39257573 [GRCh38]
Chr4:39259193 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.164+20_164+32del deletion Asphyxiating thoracic dystrophy 5 [RCV002142656] Chr4:39186623..39186635 [GRCh38]
Chr4:39188243..39188255 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2729+24_2729+33del deletion Asphyxiating thoracic dystrophy 5 [RCV002140831] Chr4:39245470..39245479 [GRCh38]
Chr4:39247090..39247099 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.42C>T (p.Gly14=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002123266]|Asphyxiating thoracic dystrophy 5 [RCV002500194]|WDR19-related disorder [RCV004531459] Chr4:39185761 [GRCh38]
Chr4:39187381 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3607A>C (p.Arg1203=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002159942] Chr4:39274849 [GRCh38]
Chr4:39276469 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3716+13G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002100122]|Asphyxiating thoracic dystrophy 5 [RCV002507957] Chr4:39274971 [GRCh38]
Chr4:39276591 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1483G>T (p.Gly495Cys) single nucleotide variant Senior-Loken syndrome 8 [RCV002248393] Chr4:39224887 [GRCh38]
Chr4:39226507 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.2645+1G>T single nucleotide variant Cranioectodermal dysplasia 4 [RCV002248396] Chr4:39244553 [GRCh38]
Chr4:39246173 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.1778-11T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002216879] Chr4:39228475 [GRCh38]
Chr4:39230095 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3002-7G>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002198248] Chr4:39255841 [GRCh38]
Chr4:39257461 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.890+19T>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002100326] Chr4:39205755 [GRCh38]
Chr4:39207375 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3216T>C (p.Asn1072=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002200165] Chr4:39266095 [GRCh38]
Chr4:39267715 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2097G>A (p.Arg699=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002100595] Chr4:39231911 [GRCh38]
Chr4:39233531 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1530T>C (p.Asp510=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002202371] Chr4:39224934 [GRCh38]
Chr4:39226554 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2730-11T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002164092] Chr4:39253135 [GRCh38]
Chr4:39254755 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1875A>G (p.Gly625=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002103001] Chr4:39228583 [GRCh38]
Chr4:39230203 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.798A>G (p.Gln266=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002084466] Chr4:39205644 [GRCh38]
Chr4:39207264 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3261+11C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002204872] Chr4:39266151 [GRCh38]
Chr4:39267771 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.406+12C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002161204] Chr4:39194671 [GRCh38]
Chr4:39196291 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1443T>C (p.His481=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002103464] Chr4:39218069 [GRCh38]
Chr4:39219689 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2298A>G (p.Ala766=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002139233] Chr4:39234810 [GRCh38]
Chr4:39236430 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.99-11A>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002220652]|Asphyxiating thoracic dystrophy 5 [RCV002498244] Chr4:39186528 [GRCh38]
Chr4:39188148 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2706C>T (p.Ala902=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002180745]|not provided [RCV004711755] Chr4:39245429 [GRCh38]
Chr4:39247049 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1135-18C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002123149] Chr4:39216078 [GRCh38]
Chr4:39217698 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1791T>C (p.Ile597=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002081628]|Asphyxiating thoracic dystrophy 5 [RCV002500108] Chr4:39228499 [GRCh38]
Chr4:39230119 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.198A>G (p.Gly66=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002217585] Chr4:39189689 [GRCh38]
Chr4:39191309 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2055T>C (p.Cys685=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002083055] Chr4:39231869 [GRCh38]
Chr4:39233489 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.604-10T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002178891] Chr4:39205144 [GRCh38]
Chr4:39206764 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3115-10C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002182461] Chr4:39257476 [GRCh38]
Chr4:39259096 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2485C>G (p.Arg829Gly) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003110895]|Inborn genetic diseases [RCV004244550] Chr4:39244311 [GRCh38]
Chr4:39245931 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1620T>C (p.Val540=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003116832] Chr4:39225024 [GRCh38]
Chr4:39226644 [GRCh37]
Chr4:4p14		 likely benign
NC_000004.11:g.(?_38765721)_(39478735_?)dup duplication not provided [RCV003113872] Chr4:38765721..39478735 [GRCh37]
Chr4:4p14		 uncertain significance
NC_000004.11:g.(?_39226484)_(39226673_?)del deletion Asphyxiating thoracic dystrophy 5 [RCV003122748] Chr4:39226484..39226673 [GRCh37]
Chr4:4p14		 uncertain significance
NC_000004.11:g.(?_39216201)_(39218880_?)del deletion Asphyxiating thoracic dystrophy 5 [RCV003122749] Chr4:39216201..39218880 [GRCh37]
Chr4:4p14		 pathogenic
NC_000004.11:g.(?_39218734)_(39219745_?)del deletion Asphyxiating thoracic dystrophy 5 [RCV003122750] Chr4:39218734..39219745 [GRCh37]
Chr4:4p14		 pathogenic
NC_000004.11:g.(?_39184178)_(39259194_?)dup duplication Asphyxiating thoracic dystrophy 5 [RCV003122751] Chr4:39184178..39259194 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3753T>G (p.Thr1251=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003121715] Chr4:39277056 [GRCh38]
Chr4:39278676 [GRCh37]
Chr4:4p14		 likely benign
H481R variation Asphyxiating thoracic dystrophy 5 [RCV002248397]   pathogenic
NM_025132.4(WDR19):c.3811A>G (p.Lys1271Glu) single nucleotide variant Spermatogenic failure 72 [RCV002248399] Chr4:39277114 [GRCh38]
Chr4:39278734 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.1354T>C (p.Leu452=) single nucleotide variant Connective tissue disorder [RCV002278828] Chr4:39217238 [GRCh38]
Chr4:39218858 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.685C>G (p.Gln229Glu) single nucleotide variant Connective tissue disorder [RCV002278831] Chr4:39205235 [GRCh38]
Chr4:39206855 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2932A>G (p.Lys978Glu) single nucleotide variant Connective tissue disorder [RCV002278829] Chr4:39253961 [GRCh38]
Chr4:39255581 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3289A>T (p.Met1097Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002296987] Chr4:39268022 [GRCh38]
Chr4:39269642 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2363+3_2363+6del deletion Senior-Loken syndrome 8 [RCV002288275] Chr4:39234876..39234879 [GRCh38]
Chr4:39236496..39236499 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_025132.4(WDR19):c.961+102A>T single nucleotide variant not provided [RCV002286025] Chr4:39214773 [GRCh38]
Chr4:39216393 [GRCh37]
Chr4:4p14		 likely benign
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_025132.4(WDR19):c.4021G>A (p.Glu1341Lys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002296947] Chr4:39278642 [GRCh38]
Chr4:39280262 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1070G>A (p.Cys357Tyr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002297721] Chr4:39215949 [GRCh38]
Chr4:39217569 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.697A>G (p.Asn233Asp) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002726814] Chr4:39205247 [GRCh38]
Chr4:39206867 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.526C>T (p.Gln176Ter) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002903042] Chr4:39203645 [GRCh38]
Chr4:39205265 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.2897A>G (p.Asp966Gly) single nucleotide variant Senior-Loken syndrome 8 [RCV003232886] Chr4:39253926 [GRCh38]
Chr4:39255546 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1541C>A (p.Pro514His) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002304760] Chr4:39224945 [GRCh38]
Chr4:39226565 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2869G>A (p.Val957Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002295986] Chr4:39253285 [GRCh38]
Chr4:39254905 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2056C>G (p.Leu686Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002295916] Chr4:39231870 [GRCh38]
Chr4:39233490 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2083A>G (p.Ile695Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002295780] Chr4:39231897 [GRCh38]
Chr4:39233517 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3337G>T (p.Ala1113Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002303049] Chr4:39268070 [GRCh38]
Chr4:39269690 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2934A>C (p.Lys978Asn) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002302402] Chr4:39253963 [GRCh38]
Chr4:39255583 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2797del (p.Asp933fs) deletion Asphyxiating thoracic dystrophy 5 [RCV003014757] Chr4:39253212 [GRCh38]
Chr4:39254832 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.2900A>G (p.Tyr967Cys) single nucleotide variant Inborn genetic diseases [RCV002816942] Chr4:39253929 [GRCh38]
Chr4:39255549 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2589T>G (p.Tyr863Ter) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003013147] Chr4:39244496 [GRCh38]
Chr4:39246116 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.2987A>G (p.Tyr996Cys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002512454] Chr4:39254016 [GRCh38]
Chr4:39255636 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.731G>C (p.Arg244Pro) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002838786] Chr4:39205577 [GRCh38]
Chr4:39207197 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1994C>T (p.Ala665Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002972004] Chr4:39231808 [GRCh38]
Chr4:39233428 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.840C>G (p.Ser280Arg) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002816460] Chr4:39205686 [GRCh38]
Chr4:39207306 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2483G>C (p.Arg828Pro) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002839364] Chr4:39244309 [GRCh38]
Chr4:39245929 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2337del (p.Glu780fs) deletion Asphyxiating thoracic dystrophy 5 [RCV002862869] Chr4:39234846 [GRCh38]
Chr4:39236466 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.1135-11C>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002881070] Chr4:39216085 [GRCh38]
Chr4:39217705 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.53A>G (p.Gln18Arg) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002615071] Chr4:39185772 [GRCh38]
Chr4:39187392 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.388C>G (p.Arg130Gly) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003032915] Chr4:39194641 [GRCh38]
Chr4:39196261 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1772T>C (p.Ile591Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002776325] Chr4:39228352 [GRCh38]
Chr4:39229972 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.941A>G (p.Asn314Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002636133] Chr4:39214651 [GRCh38]
Chr4:39216271 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2254-14T>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002756472] Chr4:39234752 [GRCh38]
Chr4:39236372 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.603+17A>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002819954] Chr4:39203739 [GRCh38]
Chr4:39205359 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.631T>G (p.Leu211Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002975029] Chr4:39205181 [GRCh38]
Chr4:39206801 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.815G>A (p.Arg272His) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003077030] Chr4:39205661 [GRCh38]
Chr4:39207281 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1352A>G (p.His451Arg) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002819077] Chr4:39217236 [GRCh38]
Chr4:39218856 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2023G>A (p.Glu675Lys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002843693] Chr4:39231837 [GRCh38]
Chr4:39233457 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2691C>G (p.Ile897Met) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003098882] Chr4:39245414 [GRCh38]
Chr4:39247034 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3668G>C (p.Arg1223Pro) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003073820] Chr4:39274910 [GRCh38]
Chr4:39276530 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2563-3T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002690368] Chr4:39244467 [GRCh38]
Chr4:39246087 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1356+18G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003035101] Chr4:39217258 [GRCh38]
Chr4:39218878 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3105A>G (p.Gln1035=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002618772] Chr4:39255951 [GRCh38]
Chr4:39257571 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1856C>A (p.Thr619Asn) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002908975] Chr4:39228564 [GRCh38]
Chr4:39230184 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2480T>G (p.Ile827Arg) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002820001] Chr4:39244306 [GRCh38]
Chr4:39245926 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3225_3230del (p.Asp1076_His1077del) deletion Asphyxiating thoracic dystrophy 5 [RCV003016459] Chr4:39266104..39266109 [GRCh38]
Chr4:39267724..39267729 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.223A>C (p.Lys75Gln) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002816591] Chr4:39189714 [GRCh38]
Chr4:39191334 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3565+16C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003013780] Chr4:39273077 [GRCh38]
Chr4:39274697 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3609G>A (p.Arg1203=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003015904] Chr4:39274851 [GRCh38]
Chr4:39276471 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3511A>G (p.Lys1171Glu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002775533] Chr4:39273007 [GRCh38]
Chr4:39274627 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3215A>G (p.Asn1072Ser) single nucleotide variant Inborn genetic diseases [RCV002816860] Chr4:39266094 [GRCh38]
Chr4:39267714 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.437G>A (p.Cys146Tyr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003033893] Chr4:39199508 [GRCh38]
Chr4:39201128 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2114G>A (p.Gly705Asp) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002842713] Chr4:39231928 [GRCh38]
Chr4:39233548 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1122C>T (p.Asn374=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002882144] Chr4:39216001 [GRCh38]
Chr4:39217621 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2695T>C (p.Leu899=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003016392] Chr4:39245418 [GRCh38]
Chr4:39247038 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2154C>T (p.Asp718=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003075924] Chr4:39232173 [GRCh38]
Chr4:39233793 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2422G>C (p.Glu808Gln) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002815967] Chr4:39244248 [GRCh38]
Chr4:39245868 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3584C>T (p.Thr1195Met) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003075366] Chr4:39274826 [GRCh38]
Chr4:39276446 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3358+15C>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002996290] Chr4:39268106 [GRCh38]
Chr4:39269726 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3184-11T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002800122] Chr4:39266052 [GRCh38]
Chr4:39267672 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.252C>A (p.Ala84=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003078208] Chr4:39189743 [GRCh38]
Chr4:39191363 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.456G>T (p.Leu152=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002825215] Chr4:39199527 [GRCh38]
Chr4:39201147 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2203C>G (p.Leu735Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003021721] Chr4:39232222 [GRCh38]
Chr4:39233842 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3114+15A>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002825018] Chr4:39255975 [GRCh38]
Chr4:39257595 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1521C>T (p.Phe507=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002640449] Chr4:39224925 [GRCh38]
Chr4:39226545 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.99-16T>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002871587] Chr4:39186523 [GRCh38]
Chr4:39188143 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1250-15T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002796897] Chr4:39217119 [GRCh38]
Chr4:39218739 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3547A>G (p.Ile1183Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002914471] Chr4:39273043 [GRCh38]
Chr4:39274663 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2523C>G (p.Val841=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002590344] Chr4:39244349 [GRCh38]
Chr4:39245969 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2486G>A (p.Arg829Gln) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002640482] Chr4:39244312 [GRCh38]
Chr4:39245932 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2646-9C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002866297] Chr4:39245360 [GRCh38]
Chr4:39246980 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.650A>G (p.Asn217Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002948607] Chr4:39205200 [GRCh38]
Chr4:39206820 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2612A>C (p.Lys871Thr) single nucleotide variant Inborn genetic diseases [RCV002821834] Chr4:39244519 [GRCh38]
Chr4:39246139 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2183T>A (p.Met728Lys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002796082] Chr4:39232202 [GRCh38]
Chr4:39233822 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2833G>A (p.Val945Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002795363] Chr4:39253249 [GRCh38]
Chr4:39254869 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2743G>C (p.Val915Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003077388] Chr4:39253159 [GRCh38]
Chr4:39254779 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2735A>G (p.Lys912Arg) single nucleotide variant Inborn genetic diseases [RCV002949914] Chr4:39253151 [GRCh38]
Chr4:39254771 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.522+7C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002948606] Chr4:39199600 [GRCh38]
Chr4:39201220 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3359-5T>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003078200] Chr4:39269971 [GRCh38]
Chr4:39271591 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3840+13A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003079809] Chr4:39277156 [GRCh38]
Chr4:39278776 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1249+19G>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002780889] Chr4:39216229 [GRCh38]
Chr4:39217849 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3045A>T (p.Leu1015Phe) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003038216] Chr4:39255891 [GRCh38]
Chr4:39257511 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2781A>G (p.Val927=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003038036] Chr4:39253197 [GRCh38]
Chr4:39254817 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2646-15G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002923369] Chr4:39245354 [GRCh38]
Chr4:39246974 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.1630-9A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002949166] Chr4:39228201 [GRCh38]
Chr4:39229821 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.604A>G (p.Ile202Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002736410] Chr4:39205154 [GRCh38]
Chr4:39206774 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2364-17T>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003019305] Chr4:39240260 [GRCh38]
Chr4:39241880 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2413G>A (p.Asp805Asn) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002976188] Chr4:39240326 [GRCh38]
Chr4:39241946 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2463C>T (p.Ser821=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002820988] Chr4:39244289 [GRCh38]
Chr4:39245909 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.522+14G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002781331] Chr4:39199607 [GRCh38]
Chr4:39201227 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1400G>A (p.Arg467Gln) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002953227] Chr4:39218026 [GRCh38]
Chr4:39219646 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3841-15A>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002909686] Chr4:39278116 [GRCh38]
Chr4:39279736 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.373A>C (p.Asn125His) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002637448]|WDR19-related disorder [RCV004736283] Chr4:39194626 [GRCh38]
Chr4:39196246 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.697_701dup (p.Val235fs) duplication Asphyxiating thoracic dystrophy 5 [RCV003037654] Chr4:39205246..39205247 [GRCh38]
Chr4:39206866..39206867 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.1851G>A (p.Glu617=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003037683] Chr4:39228559 [GRCh38]
Chr4:39230179 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3483+1G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002889379] Chr4:39270101 [GRCh38]
Chr4:39271721 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_025132.4(WDR19):c.696C>T (p.Gly232=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003018985] Chr4:39205246 [GRCh38]
Chr4:39206866 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1113C>T (p.Thr371=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002695644] Chr4:39215992 [GRCh38]
Chr4:39217612 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2305T>G (p.Leu769Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003037947] Chr4:39234817 [GRCh38]
Chr4:39236437 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3115-8C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002948645] Chr4:39257478 [GRCh38]
Chr4:39259098 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.768C>T (p.Val256=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002637246] Chr4:39205614 [GRCh38]
Chr4:39207234 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2483G>A (p.Arg828His) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002662511]|WDR19-related disorder [RCV004545361] Chr4:39244309 [GRCh38]
Chr4:39245929 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1261T>C (p.Leu421=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002797166] Chr4:39217145 [GRCh38]
Chr4:39218765 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.406+20A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002866881] Chr4:39194679 [GRCh38]
Chr4:39196299 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.7C>T (p.Arg3Cys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002913094] Chr4:39185726 [GRCh38]
Chr4:39187346 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3358+15C>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002913657] Chr4:39268106 [GRCh38]
Chr4:39269726 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_025132.4(WDR19):c.768C>G (p.Val256=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002620593] Chr4:39205614 [GRCh38]
Chr4:39207234 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3184-14C>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002659335] Chr4:39266049 [GRCh38]
Chr4:39267669 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1982+14C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002760593] Chr4:39228704 [GRCh38]
Chr4:39230324 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2031C>G (p.Ala677=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002796031] Chr4:39231845 [GRCh38]
Chr4:39233465 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1142C>G (p.Pro381Arg) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002923086] Chr4:39216103 [GRCh38]
Chr4:39217723 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3140C>A (p.Pro1047Gln) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002761495] Chr4:39257511 [GRCh38]
Chr4:39259131 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2013T>C (p.Ile671=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002785219] Chr4:39231827 [GRCh38]
Chr4:39233447 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3327C>T (p.Ala1109=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002695792] Chr4:39268060 [GRCh38]
Chr4:39269680 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2916G>A (p.Gln972=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002619517] Chr4:39253945 [GRCh38]
Chr4:39255565 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1629+13C>T single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002847018] Chr4:39225046 [GRCh38]
Chr4:39226666 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.290G>A (p.Arg97Lys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003036828] Chr4:39189781 [GRCh38]
Chr4:39191401 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2503C>G (p.Leu835Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002592328] Chr4:39244329 [GRCh38]
Chr4:39245949 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2057T>C (p.Leu686Pro) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002756734] Chr4:39231871 [GRCh38]
Chr4:39233491 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3728T>C (p.Ile1243Thr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002785481] Chr4:39277031 [GRCh38]
Chr4:39278651 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3229C>G (p.His1077Asp) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002780321] Chr4:39266108 [GRCh38]
Chr4:39267728 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1983-2A>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002876098] Chr4:39231795 [GRCh38]
Chr4:39233415 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_025132.4(WDR19):c.3961T>C (p.Leu1321=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002895130] Chr4:39278582 [GRCh38]
Chr4:39280202 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3075G>A (p.Gln1025=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002958865] Chr4:39255921 [GRCh38]
Chr4:39257541 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3262-19A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003007701] Chr4:39267976 [GRCh38]
Chr4:39269596 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1730A>G (p.Asp577Gly) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002624084] Chr4:39228310 [GRCh38]
Chr4:39229930 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3457del (p.Ile1153fs) deletion Asphyxiating thoracic dystrophy 5 [RCV002829532] Chr4:39270074 [GRCh38]
Chr4:39271694 [GRCh37]
Chr4:4p14		 pathogenic
NM_025132.4(WDR19):c.3289A>C (p.Met1097Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002575975] Chr4:39268022 [GRCh38]
Chr4:39269642 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.717-13T>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003059421] Chr4:39205550 [GRCh38]
Chr4:39207170 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2185T>C (p.Phe729Leu) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003085994] Chr4:39232204 [GRCh38]
Chr4:39233824 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3426A>G (p.Lys1142=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002745810] Chr4:39270043 [GRCh38]
Chr4:39271663 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2262G>A (p.Arg754=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002790699] Chr4:39234774 [GRCh38]
Chr4:39236394 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.6+11T>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002766537] Chr4:39182574 [GRCh38]
Chr4:39184194 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2411G>A (p.Gly804Asp) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003025337] Chr4:39240324 [GRCh38]
Chr4:39241944 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.604-12del deletion Asphyxiating thoracic dystrophy 5 [RCV003056979] Chr4:39205142 [GRCh38]
Chr4:39206762 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2133A>G (p.Glu711=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003081970] Chr4:39231947 [GRCh38]
Chr4:39233567 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3614G>C (p.Gly1205Ala) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003085840] Chr4:39274856 [GRCh38]
Chr4:39276476 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3158T>C (p.Val1053Ala) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003084052] Chr4:39257529 [GRCh38]
Chr4:39259149 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.891-5T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003040772] Chr4:39214596 [GRCh38]
Chr4:39216216 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2287C>A (p.Leu763Ile) single nucleotide variant Inborn genetic diseases [RCV002665402] Chr4:39234799 [GRCh38]
Chr4:39236419 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.165-15T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003082353] Chr4:39189641 [GRCh38]
Chr4:39191261 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2646-16G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002624526] Chr4:39245353 [GRCh38]
Chr4:39246973 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2551G>A (p.Glu851Lys) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003023488] Chr4:39244377 [GRCh38]
Chr4:39245997 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3509T>C (p.Met1170Thr) single nucleotide variant Inborn genetic diseases [RCV002665812] Chr4:39273005 [GRCh38]
Chr4:39274625 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3561A>G (p.Pro1187=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002786418] Chr4:39273057 [GRCh38]
Chr4:39274677 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.1446C>T (p.Ala482=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002852104] Chr4:39218072 [GRCh38]
Chr4:39219692 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3262-8T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003024581] Chr4:39267987 [GRCh38]
Chr4:39269607 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1982+15A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002890308] Chr4:39228705 [GRCh38]
Chr4:39230325 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3651G>T (p.Leu1217Phe) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002801206] Chr4:39274893 [GRCh38]
Chr4:39276513 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3183+3A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003084479] Chr4:39257557 [GRCh38]
Chr4:39259177 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2381C>G (p.Ala794Gly) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003057473] Chr4:39240294 [GRCh38]
Chr4:39241914 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3634A>G (p.Ser1212Gly) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002958852] Chr4:39274876 [GRCh38]
Chr4:39276496 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3358+19T>C single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003084247] Chr4:39268110 [GRCh38]
Chr4:39269730 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.282T>C (p.Asn94=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002932905] Chr4:39189773 [GRCh38]
Chr4:39191393 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3566-6T>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002741926] Chr4:39274802 [GRCh38]
Chr4:39276422 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3555A>G (p.Lys1185=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002805568] Chr4:39273051 [GRCh38]
Chr4:39274671 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3828T>C (p.Tyr1276=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003085638] Chr4:39277131 [GRCh38]
Chr4:39278751 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.376C>T (p.His126Tyr) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002828838] Chr4:39194629 [GRCh38]
Chr4:39196249 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1357-13C>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003024622] Chr4:39217970 [GRCh38]
Chr4:39219590 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.2248C>G (p.Leu750Val) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002829969] Chr4:39232267 [GRCh38]
Chr4:39233887 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2201A>G (p.Asn734Ser) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002802156] Chr4:39232220 [GRCh38]
Chr4:39233840 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.825_830del (p.Lys275_Asp276del) deletion Asphyxiating thoracic dystrophy 5 [RCV002830151] Chr4:39205667..39205672 [GRCh38]
Chr4:39207287..39207292 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1681G>A (p.Val561Ile) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003022783] Chr4:39228261 [GRCh38]
Chr4:39229881 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.1778-4G>A single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002663873] Chr4:39228482 [GRCh38]
Chr4:39230102 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.535T>C (p.Ser179Pro) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003006194] Chr4:39203654 [GRCh38]
Chr4:39205274 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2816A>C (p.Glu939Ala) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002890311] Chr4:39253232 [GRCh38]
Chr4:39254852 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3002G>A (p.Gly1001Asp) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002932086] Chr4:39255848 [GRCh38]
Chr4:39257468 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.2235T>C (p.Cys745=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV002958507] Chr4:39232254 [GRCh38]
Chr4:39233874 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.7-9del deletion Asphyxiating thoracic dystrophy 5 [RCV003059323] Chr4:39185717 [GRCh38]
Chr4:39187337 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3114+4A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003048980] Chr4:39255964 [GRCh38]
Chr4:39257584 [GRCh37]
Chr4:4p14		 uncertain significance
NM_025132.4(WDR19):c.3716+17A>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003065954] Chr4:39274975 [GRCh38]
Chr4:39276595 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.603+20C>G single nucleotide variant Asphyxiating thoracic dystrophy 5 [RCV003062661] Chr4:39203742 [GRCh38]
Chr4:39205362 [GRCh37]
Chr4:4p14		 likely benign
NM_025132.4(WDR19):c.3516G>T (p.Gly1172=) single nucleotide variant Asphyxiating thoracic dystrophy 5 [