IFT80 (intraflagellar transport 80) - Rat Genome Database

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Pathways
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Gene: IFT80 (intraflagellar transport 80) Homo sapiens
Analyze
Symbol: IFT80
Name: intraflagellar transport 80
RGD ID: 1606252
HGNC Page HGNC:29262
Description: Predicted to be involved in cilium assembly. Predicted to act upstream of or within several processes, including cell surface receptor signaling pathway; intracellular signaling cassette; and skeletal system development. Part of intraciliary transport particle B. Implicated in asphyxiating thoracic dystrophy 2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATD2; CFAP167; FAP167; intraflagellar transport 80 homolog; intraflagellar transport protein 80 homolog; KIAA1374; MGC126543; SRTD2; WD repeat domain 56; WD repeat-containing protein 56; WDR56
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100422032  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383160,256,986 - 160,399,225 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3160,256,986 - 160,399,880 (-)EnsemblGRCh38hg38GRCh38
GRCh373159,974,774 - 160,117,013 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363161,457,482 - 161,600,014 (-)NCBINCBI36Build 36hg18NCBI36
Celera3158,396,141 - 158,538,687 (-)NCBICelera
Cytogenetic Map3q25.33NCBI
HuRef3157,373,426 - 157,515,902 (-)NCBIHuRef
CHM1_13159,937,988 - 160,080,209 (-)NCBICHM1_1
T2T-CHM13v2.03163,031,586 - 163,173,837 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
apoptotic process  (IEA,ISO)
articular cartilage development  (IEA,ISO)
bone development  (IEA,ISO)
bone mineralization involved in bone maturation  (IEA,ISO)
bone morphogenesis  (IEA,ISO)
canonical NF-kappaB signal transduction  (IEA,ISO)
cartilage development  (IEA,ISO)
cartilage homeostasis  (IEA,ISO)
cell population proliferation  (IEA,ISO)
chondrocyte differentiation  (IEA,ISO)
cilium assembly  (IBA,IEA,ISO,NAS)
cilium organization  (IEA,ISO)
endochondral ossification  (IEA,ISO)
establishment or maintenance of cell polarity  (IEA,ISO)
fibroblast growth factor receptor signaling pathway  (IEA,ISO)
gene expression  (IEA,ISO)
growth plate cartilage chondrocyte differentiation  (IEA,ISO)
growth plate cartilage development  (IEA,ISO)
intraciliary anterograde transport  (NAS)
keratinocyte proliferation  (IEA,ISO)
limb development  (IEA,ISO)
multicellular organism growth  (IEA,ISO)
negative regulation of keratinocyte proliferation  (IEA,ISO)
negative regulation of non-canonical Wnt signaling pathway  (IEA,ISO)
non-canonical Wnt signaling pathway  (IEA,ISO)
non-motile cilium assembly  (IEA,ISO)
odontoblast differentiation  (IEA,ISO)
odontogenesis  (IEA,ISO)
ossification  (IEA,ISO)
osteoblast differentiation  (IEA,ISO)
osteoblast proliferation  (IEA,ISO)
osteoclast differentiation  (IEA,ISO)
phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IEA,ISO)
proteasomal protein catabolic process  (IEA,ISO)
protein stabilization  (IEA,ISO)
protein ubiquitination  (IEA,ISO)
receptor localization to non-motile cilium  (IEA,ISO)
response to inositol  (IEA,ISO)
skeletal system development  (IEA,ISO)
smoothened signaling pathway  (IEA,ISO)
spinal cord development  (IEA,ISO)
stem cell differentiation  (IEA,ISO)
stem cell proliferation  (IEA,ISO)
tissue development  (IEA,ISO)
tooth eruption  (IEA,ISO)

Cellular Component
9+0 non-motile cilium  (IEA,ISO)
centrosome  (IBA,IEA)
ciliary basal body  (IEA)
ciliary tip  (TAS)
cilium  (IBA,IEA,NAS,TAS)
cytoplasm  (IEA)
cytoskeleton  (IEA)
intraciliary transport particle B  (IBA,IEA,IPI,ISS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal clavicle morphology  (IAGP)
Abnormal metaphysis morphology  (IAGP)
Abnormal pelvic girdle bone morphology  (IAGP)
Abnormal pelvis bone ossification  (IAGP)
Abnormal rib morphology  (IAGP)
Abnormal sternum morphology  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the liver  (IAGP)
Absent or minimally ossified vertebral bodies  (IAGP)
Agenesis of corpus callosum  (IAGP)
Ambiguous genitalia  (IAGP)
Anal atresia  (IAGP)
Aplasia/Hypoplasia of the lungs  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bifid epiglottis  (IAGP)
Bifid tongue  (IAGP)
Brachydactyly  (IAGP)
Broad palm  (IAGP)
Cataract  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cleft upper lip  (IAGP)
Cone-shaped epiphysis  (IAGP)
Congenital hepatic fibrosis  (IAGP)
Cryptorchidism  (IAGP)
Dandy-Walker malformation  (IAGP)
Depressed nasal bridge  (IAGP)
Disproportionate short-limb short stature  (IAGP)
Ectopic anus  (IAGP)
Epicanthus  (IAGP)
Esophageal atresia  (IAGP)
Feeding difficulties in infancy  (IAGP)
Frontal bossing  (IAGP)
Growth abnormality  (IAGP)
Hydronephrosis  (IAGP)
Hydrops fetalis  (IAGP)
Hypoplasia of penis  (IAGP)
Lethal skeletal dysplasia  (IAGP)
Long philtrum  (IAGP)
Macrocephaly  (IAGP)
Mesomelia  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Narrow chest  (IAGP)
Nephronophthisis  (IAGP)
Nephropathy  (IAGP)
Omphalocele  (IAGP)
Postaxial foot polydactyly  (IAGP)
Postaxial hand polydactyly  (IAGP)
Preaxial hand polydactyly  (IAGP)
Pulmonary hypoplasia  (IAGP)
Renal cyst  (IAGP)
Renal hypoplasia  (IAGP)
Renal insufficiency  (IAGP)
Respiratory insufficiency  (IAGP)
Rhizomelia  (IAGP)
Short foot  (IAGP)
Short metacarpal  (IAGP)
Short palm  (IAGP)
Short ribs  (IAGP)
Short stature  (IAGP)
Short thorax  (IAGP)
Skeletal dysplasia  (IAGP)
Tessier cleft  (IAGP)
Toe syndactyly  (IAGP)
Urethrovaginal fistula  (IAGP)
Uterus didelphys  (IAGP)
Ventriculomegaly  (IAGP)
Wide nose  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10718198   PMID:12421765   PMID:12477932   PMID:14702039   PMID:16641997   PMID:17468754   PMID:18601909   PMID:19648123   PMID:20301743   PMID:21873635   PMID:26186194   PMID:26344197  
PMID:26389662   PMID:26638075   PMID:26980730   PMID:27173435   PMID:28514442   PMID:28986522   PMID:29229926   PMID:29576527   PMID:29615496   PMID:30453504   PMID:30767363   PMID:33957083  
PMID:33961781   PMID:35271311  


Genomics

Comparative Map Data
IFT80
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383160,256,986 - 160,399,225 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3160,256,986 - 160,399,880 (-)EnsemblGRCh38hg38GRCh38
GRCh373159,974,774 - 160,117,013 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363161,457,482 - 161,600,014 (-)NCBINCBI36Build 36hg18NCBI36
Celera3158,396,141 - 158,538,687 (-)NCBICelera
Cytogenetic Map3q25.33NCBI
HuRef3157,373,426 - 157,515,902 (-)NCBIHuRef
CHM1_13159,937,988 - 160,080,209 (-)NCBICHM1_1
T2T-CHM13v2.03163,031,586 - 163,173,837 (-)NCBIT2T-CHM13v2.0
Ift80
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39368,799,832 - 68,911,939 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl368,799,832 - 68,911,892 (-)EnsemblGRCm39 Ensembl
GRCm38368,892,499 - 69,004,680 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl368,892,499 - 69,004,570 (-)EnsemblGRCm38mm10GRCm38
MGSCv37368,696,421 - 68,808,492 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36368,980,431 - 69,092,394 (-)NCBIMGSCv36mm8
Celera369,005,128 - 69,112,374 (-)NCBICelera
Cytogenetic Map3E1NCBI
cM Map332.07NCBI
Ift80
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82155,455,773 - 155,550,082 (-)NCBIGRCr8
mRatBN7.22153,144,707 - 153,240,024 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2153,145,795 - 153,240,024 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2160,275,443 - 160,369,696 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02158,325,966 - 158,420,213 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02152,958,736 - 153,052,980 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02165,506,878 - 165,600,748 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2165,505,810 - 165,600,748 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02184,867,651 - 184,961,866 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42158,892,673 - 158,987,059 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12158,842,636 - 158,937,022 (-)NCBI
Celera2147,496,487 - 147,590,825 (-)NCBICelera
Cytogenetic Map2q32NCBI
Ift80
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495544810,808,940 - 10,819,655 (-)NCBIChiLan1.0ChiLan1.0
IFT80
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22158,193,564 - 158,335,974 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13158,198,280 - 158,340,492 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03157,279,076 - 157,421,478 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13165,327,511 - 165,469,795 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3165,329,056 - 165,454,905 (-)Ensemblpanpan1.1panPan2
IFT80
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13426,332,456 - 26,455,428 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3430,374,586 - 30,497,664 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03426,388,720 - 26,512,021 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3426,387,471 - 26,511,904 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13426,318,615 - 26,441,864 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03426,279,456 - 26,402,532 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03426,519,525 - 26,642,618 (-)NCBIUU_Cfam_GSD_1.0
Ift80
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560292,197,246 - 92,324,932 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936708238,268 - 362,519 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936708238,302 - 362,537 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IFT80
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1399,943,208 - 100,078,148 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11399,943,203 - 100,078,148 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213108,339,643 - 108,382,860 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IFT80
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11530,441,724 - 30,577,437 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1530,461,526 - 30,577,484 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660412,961,984 - 3,104,898 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ift80
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473038,003,902 - 38,144,277 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473038,003,437 - 38,144,312 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IFT80
573 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020800.3(IFT80):c.1561C>T (p.Leu521Phe) single nucleotide variant Jeune thoracic dystrophy [RCV000515810] Chr3:160280770 [GRCh38]
Chr3:159998558 [GRCh37]
Chr3:3q25.33		 pathogenic|likely pathogenic
NM_020800.3(IFT80):c.1126G>A (p.Val376Ile) single nucleotide variant Jeune thoracic dystrophy [RCV000544841] Chr3:160303940 [GRCh38]
Chr3:160021728 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.572T>A (p.Ile191Asn) single nucleotide variant Jeune thoracic dystrophy [RCV000515954] Chr3:160357556 [GRCh38]
Chr3:160075344 [GRCh37]
Chr3:3q25.33		 pathogenic|likely pathogenic
NM_020800.3(IFT80):c.487_490del (p.Leu163fs) deletion Type IV short rib polydactyly syndrome [RCV000515964] Chr3:160366102..160366105 [GRCh38]
Chr3:160083890..160083893 [GRCh37]
Chr3:3q25.33		 pathogenic|likely pathogenic
NM_020800.3(IFT80):c.315C>G (p.His105Gln) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000001044] Chr3:160377485 [GRCh38]
Chr3:160095273 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.2(IFT80):c.1645_1647delTTA (p.Leu549del) deletion Asphyxiating thoracic dystrophy 2 [RCV000001045] Chr3:160280684..160280686 [GRCh38]
Chr3:159998472..159998474 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.2101G>C (p.Ala701Pro) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000001046]|Jeune thoracic dystrophy [RCV002512630]|not provided [RCV004719604] Chr3:160268535 [GRCh38]
Chr3:159986323 [GRCh37]
Chr3:3q25.33		 pathogenic|likely pathogenic|uncertain significance
NM_020800.3(IFT80):c.721G>A (p.Gly241Arg) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000087065] Chr3:160356069 [GRCh38]
Chr3:160073857 [GRCh37]
Chr3:3q25.33		 pathogenic
GRCh38/hg38 3q25.33-26.1(chr3:159748682-161533654)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051538]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051538]|See cases [RCV000051538] Chr3:159748682..161533654 [GRCh38]
Chr3:159466471..161251442 [GRCh37]
Chr3:160949165..162734136 [NCBI36]
Chr3:3q25.33-26.1		 uncertain significance
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 copy number gain See cases [RCV000051724] Chr3:147442566..178522531 [GRCh38]
Chr3:147160353..178240319 [GRCh37]
Chr3:148643043..179723013 [NCBI36]
Chr3:3q24-26.32		 pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3 copy number gain See cases [RCV000051735] Chr3:158141556..172788324 [GRCh38]
Chr3:157859345..172506114 [GRCh37]
Chr3:159342039..173988808 [NCBI36]
Chr3:3q25.32-26.31		 pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
GRCh38/hg38 3q25.33(chr3:160060060-160985414)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053998]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053998]|See cases [RCV000053998] Chr3:160060060..160985414 [GRCh38]
Chr3:159777847..160703202 [GRCh37]
Chr3:161260541..162185896 [NCBI36]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001094799]|Connective tissue disorder [RCV002277340]|Jeune thoracic dystrophy [RCV000226788]|not provided [RCV000223990]|not specified [RCV000173888] Chr3:160307663 [GRCh38]
Chr3:160025451 [GRCh37]
Chr3:3q25.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001148321]|Jeune thoracic dystrophy [RCV001086098]|not provided [RCV004710567]|not specified [RCV000175225] Chr3:160277643 [GRCh38]
Chr3:159995431 [GRCh37]
Chr3:3q25.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_020800.3(IFT80):c.629_630del (p.Asp209_Cys210insTer) deletion Jeune thoracic dystrophy [RCV001907893] Chr3:160357498..160357499 [GRCh38]
Chr3:160075286..160075287 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.135T>G (p.Ser45Arg) single nucleotide variant Jeune thoracic dystrophy [RCV001945060] Chr3:160381627 [GRCh38]
Chr3:160099415 [GRCh37]
Chr3:3q25.33		 uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
NM_020800.3(IFT80):c.1825C>T (p.Arg609Cys) single nucleotide variant not provided [RCV000175095] Chr3:160279204 [GRCh38]
Chr3:159996992 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1883G>A (p.Arg628Gln) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000764475]|Jeune thoracic dystrophy [RCV000387744]|not provided [RCV000175224] Chr3:160277624 [GRCh38]
Chr3:159995412 [GRCh37]
Chr3:3q25.33		 uncertain significance
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29		 pathogenic
NM_020800.3(IFT80):c.60G>A (p.Val20=) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000375111]|Jeune thoracic dystrophy [RCV001517037]|not provided [RCV000177320] Chr3:160381702 [GRCh38]
Chr3:160099490 [GRCh37]
Chr3:3q25.33		 benign|uncertain significance
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000184040]|Jeune thoracic dystrophy [RCV001211297]|not provided [RCV001753584] Chr3:160319848 [GRCh38]
Chr3:160037636 [GRCh37]
Chr3:3q25.33		 pathogenic|likely pathogenic|uncertain significance
NM_020800.3(IFT80):c.2224-10dup duplication Jeune thoracic dystrophy [RCV000196193]|not specified [RCV000604075] Chr3:160258644..160258645 [GRCh38]
Chr3:159976432..159976433 [GRCh37]
Chr3:3q25.33		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020800.3(IFT80):c.938C>T (p.Thr313Met) single nucleotide variant Jeune thoracic dystrophy [RCV000197068] Chr3:160319779 [GRCh38]
Chr3:160037567 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2224-10del deletion Jeune thoracic dystrophy [RCV000200115]|not provided [RCV001706181] Chr3:160258645 [GRCh38]
Chr3:159976433 [GRCh37]
Chr3:3q25.33		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_020800.3(IFT80):c.371-10C>A single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001094922]|Connective tissue disorder [RCV002278290]|Jeune thoracic dystrophy [RCV000371641]|not provided [RCV004546475]|not specified [RCV000363402] Chr3:160375890 [GRCh38]
Chr3:160093678 [GRCh37]
Chr3:3q25.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020800.3(IFT80):c.1753A>T (p.Ile585Leu) single nucleotide variant Jeune thoracic dystrophy [RCV000205094] Chr3:160279276 [GRCh38]
Chr3:159997064 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.933A>G (p.Thr311=) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV003600369]|Jeune thoracic dystrophy [RCV000205762]|not specified [RCV000395322] Chr3:160319784 [GRCh38]
Chr3:160037572 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.2149G>A (p.Ala717Thr) single nucleotide variant Jeune thoracic dystrophy [RCV000206532]|not provided [RCV004692827] Chr3:160268487 [GRCh38]
Chr3:159986275 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1771A>G (p.Ile591Val) single nucleotide variant Inborn genetic diseases [RCV004027142]|Jeune thoracic dystrophy [RCV001050358]|not provided [RCV000757393] Chr3:160279258 [GRCh38]
Chr3:159997046 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1991A>G (p.His664Arg) single nucleotide variant not provided [RCV000757395] Chr3:160277414 [GRCh38]
Chr3:159995202 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1756A>T (p.Thr586Ser) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001094881]|Jeune thoracic dystrophy [RCV000279039]|not provided [RCV004716040]|not specified [RCV000607193] Chr3:160279273 [GRCh38]
Chr3:159997061 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.-98G>C single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000286397] Chr3:160399197 [GRCh38]
Chr3:160116985 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.370+6T>C single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000279391]|Jeune thoracic dystrophy [RCV001850827] Chr3:160377424 [GRCh38]
Chr3:160095212 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.*42G>A single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000266632]|not provided [RCV001691978] Chr3:160258483 [GRCh38]
Chr3:159976271 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.710G>A (p.Trp237Ter) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000273212]|Jeune thoracic dystrophy [RCV003748223] Chr3:160356080 [GRCh38]
Chr3:160073868 [GRCh37]
Chr3:3q25.33		 pathogenic|uncertain significance
NM_020800.3(IFT80):c.1126G>C (p.Val376Leu) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000397466]|Jeune thoracic dystrophy [RCV001211140]|not provided [RCV001753807] Chr3:160303940 [GRCh38]
Chr3:160021728 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.*1210TA[8] microsatellite Jeune thoracic dystrophy [RCV000314965] Chr3:160257301..160257302 [GRCh38]
Chr3:159975089..159975090 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.462G>A (p.Ala154=) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001000231]|Connective tissue disorder [RCV002278540]|Jeune thoracic dystrophy [RCV000334009]|not provided [RCV004716041] Chr3:160366130 [GRCh38]
Chr3:160083918 [GRCh37]
Chr3:3q25.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_020800.3(IFT80):c.1678A>G (p.Asn560Asp) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001001024]|Inborn genetic diseases [RCV004021897]|Jeune thoracic dystrophy [RCV000336393] Chr3:160279351 [GRCh38]
Chr3:159997139 [GRCh37]
Chr3:3q25.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020800.3(IFT80):c.1053G>A (p.Thr351=) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000401716]|Jeune thoracic dystrophy [RCV002057853] Chr3:160307686 [GRCh38]
Chr3:160025474 [GRCh37]
Chr3:3q25.33		 likely benign|uncertain significance
NM_020800.3(IFT80):c.282G>A (p.Lys94=) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000318184]|Connective tissue disorder [RCV002278541]|IFT80-related disorder [RCV003922505]|Jeune thoracic dystrophy [RCV001516146] Chr3:160377518 [GRCh38]
Chr3:160095306 [GRCh37]
Chr3:3q25.33		 benign|likely benign|uncertain significance
NM_020800.3(IFT80):c.*677A>G single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000357107] Chr3:160257848 [GRCh38]
Chr3:159975636 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.-40C>T single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000402572] Chr3:160384640 [GRCh38]
Chr3:160102428 [GRCh37]
Chr3:3q25.33		 benign|likely benign
NM_020800.3(IFT80):c.1205G>A (p.Arg402His) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000340046]|Jeune thoracic dystrophy [RCV001850825] Chr3:160300993 [GRCh38]
Chr3:160018781 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1069G>A (p.Val357Met) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000362054]|Jeune thoracic dystrophy [RCV001850826] Chr3:160307670 [GRCh38]
Chr3:160025458 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2014A>G (p.Ile672Val) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000384189]|Inborn genetic diseases [RCV004629198]|Jeune thoracic dystrophy [RCV001850824] Chr3:160277391 [GRCh38]
Chr3:159995179 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.897G>A (p.Val299=) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001094800]|Jeune thoracic dystrophy [RCV000308038]|not specified [RCV000597698] Chr3:160319820 [GRCh38]
Chr3:160037608 [GRCh37]
Chr3:3q25.33		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020800.3(IFT80):c.2289A>G (p.Gln763=) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000324014]|Jeune thoracic dystrophy [RCV001401824] Chr3:160258570 [GRCh38]
Chr3:159976358 [GRCh37]
Chr3:3q25.33		 likely benign|uncertain significance
NM_020800.2(IFT80):c.-183C>T single nucleotide variant Jeune thoracic dystrophy [RCV000344006] Chr3:160399282 [GRCh38]
Chr3:160117070 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.807T>C (p.Thr269=) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001094806]|Connective tissue disorder [RCV002278539]|IFT80-related disorder [RCV003969991]|Jeune thoracic dystrophy [RCV000365085] Chr3:160319910 [GRCh38]
Chr3:160037698 [GRCh37]
Chr3:3q25.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020800.3(IFT80):c.634T>C (p.Tyr212His) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000368881]|Jeune thoracic dystrophy [RCV001346331] Chr3:160357494 [GRCh38]
Chr3:160075282 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.2(IFT80):c.-410G>T single nucleotide variant Jeune thoracic dystrophy [RCV000369644] Chr3:160399509 [GRCh38]
Chr3:160117297 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.707C>T (p.Ala236Val) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001094807]|Jeune thoracic dystrophy [RCV000330585]|not provided [RCV001356724] Chr3:160356083 [GRCh38]
Chr3:160073871 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1926+13T>C single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000349475]|Jeune thoracic dystrophy [RCV001520935]|not provided [RCV004716039]|not specified [RCV000610913] Chr3:160277568 [GRCh38]
Chr3:159995356 [GRCh37]
Chr3:3q25.33		 benign|likely benign
NM_020800.3(IFT80):c.*767G>C single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000297523] Chr3:160257758 [GRCh38]
Chr3:159975546 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.*937A>T single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000351201] Chr3:160257588 [GRCh38]
Chr3:159975376 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.2(IFT80):c.-243G>A single nucleotide variant Jeune thoracic dystrophy [RCV000395769] Chr3:160399342 [GRCh38]
Chr3:160117130 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.44A>G (p.Glu15Gly) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000282728] Chr3:160381718 [GRCh38]
Chr3:160099506 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2307C>T (p.Ser769=) single nucleotide variant Jeune thoracic dystrophy [RCV001452408]|not provided [RCV000279841] Chr3:160258552 [GRCh38]
Chr3:159976340 [GRCh37]
Chr3:3q25.33		 likely benign|uncertain significance
NM_020800.3(IFT80):c.*551A>G single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000263159] Chr3:160257974 [GRCh38]
Chr3:159975762 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.483G>T (p.Lys161Asn) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000276583] Chr3:160366109 [GRCh38]
Chr3:160083897 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1993A>T (p.Ile665Leu) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000292172] Chr3:160277412 [GRCh38]
Chr3:159995200 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.2(IFT80):c.-321A>G single nucleotide variant Jeune thoracic dystrophy [RCV000365919] Chr3:160399420 [GRCh38]
Chr3:160117208 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.2(IFT80):c.-296G>A single nucleotide variant Jeune thoracic dystrophy [RCV000308868] Chr3:160399395 [GRCh38]
Chr3:160117183 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.-31G>A single nucleotide variant Jeune thoracic dystrophy [RCV000340127] Chr3:160384631 [GRCh38]
Chr3:160102419 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.*844G>T single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000394553] Chr3:160257681 [GRCh38]
Chr3:159975469 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.2(IFT80):c.-392T>G single nucleotide variant Jeune thoracic dystrophy [RCV000312547] Chr3:160399491 [GRCh38]
Chr3:160117279 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.*104G>A single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000359031] Chr3:160258421 [GRCh38]
Chr3:159976209 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.2(IFT80):c.-376G>C single nucleotide variant Jeune thoracic dystrophy [RCV000395764] Chr3:160399475 [GRCh38]
Chr3:160117263 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1316-13A>C single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000301301] Chr3:160285881 [GRCh38]
Chr3:160003669 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2205C>T (p.Tyr735=) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000327490] Chr3:160268431 [GRCh38]
Chr3:159986219 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.*540A>G single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000301927] Chr3:160257985 [GRCh38]
Chr3:159975773 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1326C>T (p.Leu442=) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000397470]|Jeune thoracic dystrophy [RCV001470952] Chr3:160285858 [GRCh38]
Chr3:160003646 [GRCh37]
Chr3:3q25.33		 likely benign|uncertain significance
NM_020800.3(IFT80):c.1076+9C>G single nucleotide variant Connective tissue disorder [RCV002279371]|Jeune thoracic dystrophy [RCV000861832]|not specified [RCV000591801] Chr3:160307654 [GRCh38]
Chr3:160025442 [GRCh37]
Chr3:3q25.33		 benign|likely benign
NM_020800.3(IFT80):c.937A>G (p.Thr313Ala) single nucleotide variant Connective tissue disorder [RCV002279381]|Jeune thoracic dystrophy [RCV000862752]|not specified [RCV000592362] Chr3:160319780 [GRCh38]
Chr3:160037568 [GRCh37]
Chr3:3q25.33		 benign|likely benign
NM_020800.3(IFT80):c.2158C>A (p.Gln720Lys) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000764474]|Jeune thoracic dystrophy [RCV001085371]|not provided [RCV000593105] Chr3:160268478 [GRCh38]
Chr3:159986266 [GRCh37]
Chr3:3q25.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020800.3(IFT80):c.1837-6_1837-2del microsatellite Jeune thoracic dystrophy [RCV002062041]|not provided [RCV000591354] Chr3:160277672..160277676 [GRCh38]
Chr3:159995460..159995464 [GRCh37]
Chr3:3q25.33		 likely benign|uncertain significance
NM_020800.3(IFT80):c.1150A>C (p.Arg384=) single nucleotide variant not provided [RCV000734408] Chr3:160303916 [GRCh38]
Chr3:160021704 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1769C>T (p.Ala590Val) single nucleotide variant not provided [RCV000595583] Chr3:160279260 [GRCh38]
Chr3:159997048 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.880G>A (p.Val294Ile) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001145556]|IFT80-related disorder [RCV003935408]|Jeune thoracic dystrophy [RCV000537820]|not provided [RCV003437245] Chr3:160319837 [GRCh38]
Chr3:160037625 [GRCh37]
Chr3:3q25.33		 benign|likely benign
NM_020800.3(IFT80):c.1468A>G (p.Ile490Val) single nucleotide variant Jeune thoracic dystrophy [RCV002535294]|not provided [RCV000732839] Chr3:160282526 [GRCh38]
Chr3:160000314 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.869dup (p.Asn290fs) duplication Jeune thoracic dystrophy [RCV002524657]|not provided [RCV000413805] Chr3:160319847..160319848 [GRCh38]
Chr3:160037635..160037636 [GRCh37]
Chr3:3q25.33		 pathogenic
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29		 pathogenic
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)x3 copy number gain See cases [RCV000446611] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33		 pathogenic
NM_020800.3(IFT80):c.1406A>G (p.Asp469Gly) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV004546496]|not provided [RCV000418165] Chr3:160282588 [GRCh38]
Chr3:160000376 [GRCh37]
Chr3:3q25.33		 likely pathogenic|uncertain significance
GRCh37/hg19 3q24-26.2(chr3:147180945-168415875)x1 copy number loss See cases [RCV000448130] Chr3:147180945..168415875 [GRCh37]
Chr3:3q24-26.2		 pathogenic
GRCh37/hg19 3q25.33(chr3:160022600-160046516)x1 copy number loss See cases [RCV000448259] Chr3:160022600..160046516 [GRCh37]
Chr3:3q25.33		 likely benign
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29		 pathogenic
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV003103777]|IFT80-related disorder [RCV004758018]|Jeune thoracic dystrophy [RCV000474945]|Short-rib thoracic dysplasia 6 with or without polydactyly [RCV000516104]|not provided [RCV000727148] Chr3:160356069 [GRCh38]
Chr3:160073857 [GRCh37]
Chr3:3q25.33		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001803759]|IFT80-related disorder [RCV003942476]|Jeune thoracic dystrophy [RCV000465513]|Type IV short rib polydactyly syndrome [RCV000515813] Chr3:160303973 [GRCh38]
Chr3:160021761 [GRCh37]
Chr3:3q25.33		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_020800.3(IFT80):c.1646_1648del (p.Leu549del) deletion Asphyxiating thoracic dystrophy 2 [RCV000001045]|not provided [RCV000494110] Chr3:160280683..160280685 [GRCh38]
Chr3:159998471..159998473 [GRCh37]
Chr3:3q25.33		 pathogenic|likely pathogenic
NM_020800.3(IFT80):c.2200C>T (p.Arg734Ter) single nucleotide variant Jeune thoracic dystrophy [RCV001230221]|not specified [RCV000506151] Chr3:160268436 [GRCh38]
Chr3:159986224 [GRCh37]
Chr3:3q25.33		 likely pathogenic|uncertain significance
NM_020800.3(IFT80):c.2223+4_2223+7del deletion Jeune thoracic dystrophy [RCV000634175] Chr3:160268406..160268409 [GRCh38]
Chr3:159986194..159986197 [GRCh37]
Chr3:3q25.33		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_020800.3(IFT80):c.2245A>G (p.Ile749Val) single nucleotide variant Jeune thoracic dystrophy [RCV001229384] Chr3:160258614 [GRCh38]
Chr3:159976402 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.777+20A>G single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001000614]|Jeune thoracic dystrophy [RCV001523465] Chr3:160355993 [GRCh38]
Chr3:160073781 [GRCh37]
Chr3:3q25.33		 benign|likely benign
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q25.33(chr3:160025450-160156820)x3 copy number gain not provided [RCV000742915] Chr3:160025450..160156820 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.1350G>A (p.Pro450=) single nucleotide variant Jeune thoracic dystrophy [RCV000860618]|not provided [RCV004711309] Chr3:160285834 [GRCh38]
Chr3:160003622 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.655G>A (p.Gly219Ser) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001148431]|Inborn genetic diseases [RCV004032763]|Jeune thoracic dystrophy [RCV001318346] Chr3:160356135 [GRCh38]
Chr3:160073923 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.842G>A (p.Gly281Asp) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001145672] Chr3:160319875 [GRCh38]
Chr3:160037663 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.691C>T (p.Pro231Ser) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001145674]|Jeune thoracic dystrophy [RCV002032371] Chr3:160356099 [GRCh38]
Chr3:160073887 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.*944A>G single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001148230] Chr3:160257581 [GRCh38]
Chr3:159975369 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.912G>A (p.Glu304=) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001145555]|Jeune thoracic dystrophy [RCV000864045] Chr3:160319805 [GRCh38]
Chr3:160037593 [GRCh37]
Chr3:3q25.33		 likely benign|uncertain significance
NM_020800.3(IFT80):c.819T>C (p.Phe273=) single nucleotide variant Jeune thoracic dystrophy [RCV000903638] Chr3:160319898 [GRCh38]
Chr3:160037686 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2151T>A (p.Ala717=) single nucleotide variant Jeune thoracic dystrophy [RCV000868762] Chr3:160268485 [GRCh38]
Chr3:159986273 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.879C>T (p.Val293=) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001145671]|Connective tissue disorder [RCV002279580]|Jeune thoracic dystrophy [RCV000868340] Chr3:160319838 [GRCh38]
Chr3:160037626 [GRCh37]
Chr3:3q25.33		 benign|likely benign|uncertain significance
NM_020800.3(IFT80):c.895G>A (p.Val299Met) single nucleotide variant Jeune thoracic dystrophy [RCV001039133] Chr3:160319822 [GRCh38]
Chr3:160037610 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1381-1G>T single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000779397] Chr3:160282614 [GRCh38]
Chr3:160000402 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.38-1C>G single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV000779398]|Jeune thoracic dystrophy [RCV002535654] Chr3:160381725 [GRCh38]
Chr3:160099513 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.440-7C>T single nucleotide variant not provided [RCV000960018] Chr3:160366159 [GRCh38]
Chr3:160083947 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.371-4A>T single nucleotide variant not provided [RCV000958909] Chr3:160375884 [GRCh38]
Chr3:160093672 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.546G>A (p.Leu182=) single nucleotide variant Connective tissue disorder [RCV002279570]|Jeune thoracic dystrophy [RCV000865032] Chr3:160366046 [GRCh38]
Chr3:160083834 [GRCh37]
Chr3:3q25.33		 likely benign|uncertain significance
NM_020800.3(IFT80):c.1665-6del deletion Jeune thoracic dystrophy [RCV000874328] Chr3:160279370 [GRCh38]
Chr3:159997158 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.213A>C (p.Val71=) single nucleotide variant Jeune thoracic dystrophy [RCV000869099]|not provided [RCV001531580] Chr3:160381549 [GRCh38]
Chr3:160099337 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2139T>C (p.Asp713=) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV003117623]|IFT80-related disorder [RCV003918318]|Jeune thoracic dystrophy [RCV000860737] Chr3:160268497 [GRCh38]
Chr3:159986285 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.1647A>G (p.Leu549=) single nucleotide variant not provided [RCV000873237] Chr3:160280684 [GRCh38]
Chr3:159998472 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1077-8T>C single nucleotide variant Jeune thoracic dystrophy [RCV002062271] Chr3:160303997 [GRCh38]
Chr3:160021785 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1341C>T (p.Thr447=) single nucleotide variant Jeune thoracic dystrophy [RCV000869710] Chr3:160285843 [GRCh38]
Chr3:160003631 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2156G>A (p.Arg719His) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001147394]|Connective tissue disorder [RCV002279583]|Inborn genetic diseases [RCV002539958]|Jeune thoracic dystrophy [RCV000871035]|not provided [RCV001573957] Chr3:160268480 [GRCh38]
Chr3:159986268 [GRCh37]
Chr3:3q25.33		 likely benign|uncertain significance
NM_020800.3(IFT80):c.260-9T>G single nucleotide variant Jeune thoracic dystrophy [RCV002064675] Chr3:160377549 [GRCh38]
Chr3:160095337 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.371-10C>T single nucleotide variant not provided [RCV000958910] Chr3:160375890 [GRCh38]
Chr3:160093678 [GRCh37]
Chr3:3q25.33		 likely benign
Single allele duplication Growth abnormality [RCV000787463] Chr3:158567751..160802139 [GRCh37]
Chr3:3q25.32-26.1		 uncertain significance
NM_020800.3(IFT80):c.*659C>G single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001149780] Chr3:160257866 [GRCh38]
Chr3:159975654 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.*1365C>G single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001147306] Chr3:160257160 [GRCh38]
Chr3:159974948 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.*1204G>A single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001148226] Chr3:160257321 [GRCh38]
Chr3:159975109 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.*1110A>G single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001148228] Chr3:160257415 [GRCh38]
Chr3:159975203 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2116G>A (p.Val706Ile) single nucleotide variant Jeune thoracic dystrophy [RCV001046619] Chr3:160268520 [GRCh38]
Chr3:159986308 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.*94A>G single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001147392] Chr3:160258431 [GRCh38]
Chr3:159976219 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.209G>A (p.Gly70Asp) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001150005]|Inborn genetic diseases [RCV003163336]|Jeune thoracic dystrophy [RCV002032385] Chr3:160381553 [GRCh38]
Chr3:160099341 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.*1222T>C single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001148225] Chr3:160257303 [GRCh38]
Chr3:159975091 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.*1089T>C single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001148229] Chr3:160257436 [GRCh38]
Chr3:159975224 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.758G>A (p.Arg253His) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001285779]|Inborn genetic diseases [RCV002555844]|Jeune thoracic dystrophy [RCV001065612] Chr3:160356032 [GRCh38]
Chr3:160073820 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.804C>T (p.Asn268=) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001145673]|Jeune thoracic dystrophy [RCV001456752] Chr3:160319913 [GRCh38]
Chr3:160037701 [GRCh37]
Chr3:3q25.33		 likely benign|uncertain significance
NM_020800.3(IFT80):c.668A>G (p.Tyr223Cys) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001145675] Chr3:160356122 [GRCh38]
Chr3:160073910 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.639+5A>G single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001148432]|Connective tissue disorder [RCV002276641]|Jeune thoracic dystrophy [RCV001401851]|not provided [RCV001796374] Chr3:160357484 [GRCh38]
Chr3:160075272 [GRCh37]
Chr3:3q25.33		 likely benign|uncertain significance
NM_020800.3(IFT80):c.511A>G (p.Ile171Val) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001148434]|Inborn genetic diseases [RCV002557180]|Jeune thoracic dystrophy [RCV001234882] Chr3:160366081 [GRCh38]
Chr3:160083869 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2099+4A>G single nucleotide variant Jeune thoracic dystrophy [RCV000862472] Chr3:160277302 [GRCh38]
Chr3:159995090 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2179G>A (p.Gly727Ser) single nucleotide variant Jeune thoracic dystrophy [RCV000799326] Chr3:160268457 [GRCh38]
Chr3:159986245 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1954A>G (p.Ile652Val) single nucleotide variant Jeune thoracic dystrophy [RCV000799337] Chr3:160277451 [GRCh38]
Chr3:159995239 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.440-10C>T single nucleotide variant not provided [RCV000960019] Chr3:160366162 [GRCh38]
Chr3:160083950 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.*740G>T single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001149779] Chr3:160257785 [GRCh38]
Chr3:159975573 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1499A>G (p.Glu500Gly) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001149881]|Connective tissue disorder [RCV002276642]|Inborn genetic diseases [RCV002557223]|Jeune thoracic dystrophy [RCV001512546] Chr3:160282495 [GRCh38]
Chr3:160000283 [GRCh37]
Chr3:3q25.33		 benign|likely benign|uncertain significance
NM_020800.3(IFT80):c.2038C>T (p.Leu680Phe) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001147395] Chr3:160277367 [GRCh38]
Chr3:159995155 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1104A>T (p.Ile368=) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001145553]|Jeune thoracic dystrophy [RCV002070757] Chr3:160303962 [GRCh38]
Chr3:160021750 [GRCh37]
Chr3:3q25.33		 likely benign|uncertain significance
NM_020800.3(IFT80):c.957+15C>T single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001145554] Chr3:160319745 [GRCh38]
Chr3:160037533 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.958-1G>T single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001780160]|Jeune thoracic dystrophy [RCV001229437] Chr3:160307782 [GRCh38]
Chr3:160025570 [GRCh37]
Chr3:3q25.33		 pathogenic|likely pathogenic
NM_020800.3(IFT80):c.571A>G (p.Ile191Val) single nucleotide variant Jeune thoracic dystrophy [RCV001046608] Chr3:160357557 [GRCh38]
Chr3:160075345 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.335G>A (p.Gly112Glu) single nucleotide variant Jeune thoracic dystrophy [RCV001247506] Chr3:160377465 [GRCh38]
Chr3:160095253 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.698C>A (p.Thr233Asn) single nucleotide variant Jeune thoracic dystrophy [RCV001213717] Chr3:160356092 [GRCh38]
Chr3:160073880 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1413A>C (p.Lys471Asn) single nucleotide variant Jeune thoracic dystrophy [RCV001240765] Chr3:160282581 [GRCh38]
Chr3:160000369 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1316T>G (p.Ile439Arg) single nucleotide variant Jeune thoracic dystrophy [RCV001237331] Chr3:160285868 [GRCh38]
Chr3:160003656 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.952A>T (p.Met318Leu) single nucleotide variant Jeune thoracic dystrophy [RCV001235526] Chr3:160319765 [GRCh38]
Chr3:160037553 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.599A>G (p.Asn200Ser) single nucleotide variant Jeune thoracic dystrophy [RCV001241855] Chr3:160357529 [GRCh38]
Chr3:160075317 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1495G>A (p.Glu499Lys) single nucleotide variant Jeune thoracic dystrophy [RCV001247145] Chr3:160282499 [GRCh38]
Chr3:160000287 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1052C>T (p.Thr351Met) single nucleotide variant Inborn genetic diseases [RCV004033871]|Jeune thoracic dystrophy [RCV001213062] Chr3:160307687 [GRCh38]
Chr3:160025475 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1187del (p.Leu396fs) deletion Jeune thoracic dystrophy [RCV001230552] Chr3:160301011 [GRCh38]
Chr3:160018799 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.2224-9C>T single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001147393]|Jeune thoracic dystrophy [RCV002070789] Chr3:160258644 [GRCh38]
Chr3:159976432 [GRCh37]
Chr3:3q25.33		 likely benign|uncertain significance
NM_020800.3(IFT80):c.1339A>G (p.Thr447Ala) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001149883]|Jeune thoracic dystrophy [RCV002557224] Chr3:160285845 [GRCh38]
Chr3:160003633 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1151+13G>A single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001149884] Chr3:160303902 [GRCh38]
Chr3:160021690 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.*887T>C single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001148231] Chr3:160257638 [GRCh38]
Chr3:159975426 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1525G>T (p.Val509Leu) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001148322]|Jeune thoracic dystrophy [RCV001882456] Chr3:160280806 [GRCh38]
Chr3:159998594 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.468C>T (p.Gly156=) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001148435]|Jeune thoracic dystrophy [RCV001414310] Chr3:160366124 [GRCh38]
Chr3:160083912 [GRCh37]
Chr3:3q25.33		 likely benign|uncertain significance
NM_020800.3(IFT80):c.396T>C (p.Ile132=) single nucleotide variant Jeune thoracic dystrophy [RCV003104559] Chr3:160375855 [GRCh38]
Chr3:160093643 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1102A>G (p.Ile368Val) single nucleotide variant Jeune thoracic dystrophy [RCV003106698] Chr3:160303964 [GRCh38]
Chr3:160021752 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.370+231C>T single nucleotide variant not provided [RCV001659493] Chr3:160377199 [GRCh38]
Chr3:160094987 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.2099+149A>G single nucleotide variant not provided [RCV001635814] Chr3:160277157 [GRCh38]
Chr3:159994945 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.1628A>G (p.Asp543Gly) single nucleotide variant Jeune thoracic dystrophy [RCV001889030] Chr3:160280703 [GRCh38]
Chr3:159998491 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.371-8C>T single nucleotide variant not provided [RCV000958712] Chr3:160375888 [GRCh38]
Chr3:160093676 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1350G>C (p.Pro450=) single nucleotide variant Jeune thoracic dystrophy [RCV000870064] Chr3:160285834 [GRCh38]
Chr3:160003622 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.371-9C>T single nucleotide variant not provided [RCV000953986] Chr3:160375889 [GRCh38]
Chr3:160093677 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2142A>T (p.Thr714=) single nucleotide variant Jeune thoracic dystrophy [RCV000865216] Chr3:160268494 [GRCh38]
Chr3:159986282 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.846T>C (p.Thr282=) single nucleotide variant Jeune thoracic dystrophy [RCV000865249] Chr3:160319871 [GRCh38]
Chr3:160037659 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2099+10A>G single nucleotide variant Jeune thoracic dystrophy [RCV000864343] Chr3:160277296 [GRCh38]
Chr3:159995084 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1836+5T>C single nucleotide variant IFT80-related disorder [RCV003963147]|Jeune thoracic dystrophy [RCV001242044] Chr3:160279188 [GRCh38]
Chr3:159996976 [GRCh37]
Chr3:3q25.33		 likely benign|uncertain significance
NM_020800.3(IFT80):c.2100G>C (p.Arg700Ser) single nucleotide variant Jeune thoracic dystrophy [RCV001207588] Chr3:160268536 [GRCh38]
Chr3:159986324 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.658C>T (p.Arg220Cys) single nucleotide variant Jeune thoracic dystrophy [RCV001236236] Chr3:160356132 [GRCh38]
Chr3:160073920 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1343G>T (p.Gly448Val) single nucleotide variant Jeune thoracic dystrophy [RCV001233864] Chr3:160285841 [GRCh38]
Chr3:160003629 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.*397A>G single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001145446] Chr3:160258128 [GRCh38]
Chr3:159975916 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.*1254C>T single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001147307] Chr3:160257271 [GRCh38]
Chr3:159975059 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1079C>T (p.Thr360Met) single nucleotide variant Jeune thoracic dystrophy [RCV001066840] Chr3:160303987 [GRCh38]
Chr3:160021775 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.239_250delinsGGGTTT (p.Phe80_Ser84delinsTrpValCys) indel Jeune thoracic dystrophy [RCV001241682] Chr3:160381512..160381523 [GRCh38]
Chr3:160099300..160099311 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1546G>A (p.Asp516Asn) single nucleotide variant Jeune thoracic dystrophy [RCV001227973] Chr3:160280785 [GRCh38]
Chr3:159998573 [GRCh37]
Chr3:3q25.33		 uncertain significance
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31		 pathogenic
NM_020800.3(IFT80):c.2048G>T (p.Gly683Val) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001263245] Chr3:160277357 [GRCh38]
Chr3:159995145 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.778-177C>T single nucleotide variant not provided [RCV001720669] Chr3:160320116 [GRCh38]
Chr3:160037904 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.370+198C>A single nucleotide variant not provided [RCV001720664] Chr3:160377232 [GRCh38]
Chr3:160095020 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.958-63C>T single nucleotide variant not provided [RCV001710305] Chr3:160307844 [GRCh38]
Chr3:160025632 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.1401T>C (p.Ala467=) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001149882] Chr3:160282593 [GRCh38]
Chr3:160000381 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.*319G>A single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001145447] Chr3:160258206 [GRCh38]
Chr3:159975994 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.*417A>G single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001145445] Chr3:160258108 [GRCh38]
Chr3:159975896 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.*130G>C single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001145449] Chr3:160258395 [GRCh38]
Chr3:159976183 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.*108A>G single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001145450]|not provided [RCV004694900] Chr3:160258417 [GRCh38]
Chr3:159976205 [GRCh37]
Chr3:3q25.33		 uncertain significance
NC_000003.12:g.(?_160299237)_(160319939_?)del deletion Jeune thoracic dystrophy [RCV001031266] Chr3:160017025..160037727 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.440-12T>G single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001000615] Chr3:160366164 [GRCh38]
Chr3:160083952 [GRCh37]
Chr3:3q25.33		 likely benign
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3 copy number gain See cases [RCV001194586] Chr3:138145289..162275610 [GRCh37]
Chr3:3q22.3-26.1		 pathogenic
NM_020800.3(IFT80):c.1836+123del deletion not provided [RCV001693225] Chr3:160279070 [GRCh38]
Chr3:159996858 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.1076+213C>T single nucleotide variant not provided [RCV001670898] Chr3:160307450 [GRCh38]
Chr3:160025238 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.1380+144C>T single nucleotide variant not provided [RCV001541816] Chr3:160285660 [GRCh38]
Chr3:160003448 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.1151+22C>T single nucleotide variant not provided [RCV001666225] Chr3:160303893 [GRCh38]
Chr3:160021681 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.639+171C>T single nucleotide variant not provided [RCV001706989] Chr3:160357318 [GRCh38]
Chr3:160075106 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.1315+29C>G single nucleotide variant not provided [RCV001615718] Chr3:160300854 [GRCh38]
Chr3:160018642 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.617C>A (p.Ala206Asp) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001148433] Chr3:160357511 [GRCh38]
Chr3:160075299 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1288G>A (p.Ala430Thr) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001263243]|Jeune thoracic dystrophy [RCV001049083] Chr3:160300910 [GRCh38]
Chr3:160018698 [GRCh37]
Chr3:3q25.33		 pathogenic|uncertain significance
NM_020800.3(IFT80):c.1326C>G (p.Leu442=) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001002638] Chr3:160285858 [GRCh38]
Chr3:160003646 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.*792T>G single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001149778] Chr3:160257733 [GRCh38]
Chr3:159975521 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.*797A>C single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001149777] Chr3:160257728 [GRCh38]
Chr3:159975516 [GRCh37]
Chr3:3q25.33		 uncertain significance
GRCh37/hg19 3q25.31-25.33(chr3:156812581-160154747)x3 copy number gain See cases [RCV001194528] Chr3:156812581..160154747 [GRCh37]
Chr3:3q25.31-25.33		 uncertain significance
NM_020800.3(IFT80):c.1381-6T>A single nucleotide variant Jeune thoracic dystrophy [RCV001053257] Chr3:160282619 [GRCh38]
Chr3:160000407 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.*318C>T single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001145448] Chr3:160258207 [GRCh38]
Chr3:159975995 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1910A>G (p.Tyr637Cys) single nucleotide variant Inborn genetic diseases [RCV002553845]|Jeune thoracic dystrophy [RCV001058440] Chr3:160277597 [GRCh38]
Chr3:159995385 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1208T>G (p.Phe403Cys) single nucleotide variant Jeune thoracic dystrophy [RCV001233280] Chr3:160300990 [GRCh38]
Chr3:160018778 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1376A>G (p.His459Arg) single nucleotide variant Jeune thoracic dystrophy [RCV001230794] Chr3:160285808 [GRCh38]
Chr3:160003596 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1342G>A (p.Gly448Arg) single nucleotide variant Inborn genetic diseases [RCV003373031]|Jeune thoracic dystrophy [RCV001207960] Chr3:160285842 [GRCh38]
Chr3:160003630 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.*102C>A single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001147391] Chr3:160258423 [GRCh38]
Chr3:159976211 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.266T>C (p.Phe89Ser) single nucleotide variant Jeune thoracic dystrophy [RCV001235313] Chr3:160377534 [GRCh38]
Chr3:160095322 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.956A>G (p.Gln319Arg) single nucleotide variant Jeune thoracic dystrophy [RCV001202289] Chr3:160319761 [GRCh38]
Chr3:160037549 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.*1121T>C single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001148227] Chr3:160257404 [GRCh38]
Chr3:159975192 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.640G>A (p.Val214Ile) single nucleotide variant Jeune thoracic dystrophy [RCV001231035] Chr3:160356150 [GRCh38]
Chr3:160073938 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.371T>C (p.Val124Ala) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001150004]|Jeune thoracic dystrophy [RCV001237550] Chr3:160375880 [GRCh38]
Chr3:160093668 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2225T>A (p.Leu742His) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV003483802]|Jeune thoracic dystrophy [RCV001233571] Chr3:160258634 [GRCh38]
Chr3:159976422 [GRCh37]
Chr3:3q25.33		 uncertain significance|not provided
NM_020800.3(IFT80):c.1158T>A (p.Phe386Leu) single nucleotide variant Jeune thoracic dystrophy [RCV001203315] Chr3:160301040 [GRCh38]
Chr3:160018828 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1961del (p.Asn654fs) deletion Jeune thoracic dystrophy [RCV001204612] Chr3:160277444 [GRCh38]
Chr3:159995232 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.332C>T (p.Ala111Val) single nucleotide variant Jeune thoracic dystrophy [RCV001070968]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003389332] Chr3:160377468 [GRCh38]
Chr3:160095256 [GRCh37]
Chr3:3q25.33		 likely benign|uncertain significance
NM_020800.3(IFT80):c.890_891del (p.His297fs) deletion Asphyxiating thoracic dystrophy 2 [RCV001335074] Chr3:160319826..160319827 [GRCh38]
Chr3:160037614..160037615 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.743C>G (p.Ser248Trp) single nucleotide variant Jeune thoracic dystrophy [RCV001304341] Chr3:160356047 [GRCh38]
Chr3:160073835 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1694G>A (p.Ser565Asn) single nucleotide variant Jeune thoracic dystrophy [RCV001349587] Chr3:160279335 [GRCh38]
Chr3:159997123 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1316-21A>G single nucleotide variant not provided [RCV001641704] Chr3:160285889 [GRCh38]
Chr3:160003677 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.954G>A (p.Met318Ile) single nucleotide variant Jeune thoracic dystrophy [RCV001298702] Chr3:160319763 [GRCh38]
Chr3:160037551 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.469C>A (p.Pro157Thr) single nucleotide variant Jeune thoracic dystrophy [RCV001320069] Chr3:160366123 [GRCh38]
Chr3:160083911 [GRCh37]
Chr3:3q25.33		 uncertain significance
GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699) copy number gain Global developmental delay [RCV001352648] Chr3:138173683..162494699 [GRCh37]
Chr3:3q22.3-26.1		 pathogenic
NM_020800.3(IFT80):c.1936G>T (p.Val646Phe) single nucleotide variant Jeune thoracic dystrophy [RCV001325945] Chr3:160277469 [GRCh38]
Chr3:159995257 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.748C>T (p.His250Tyr) single nucleotide variant Jeune thoracic dystrophy [RCV001296432] Chr3:160356042 [GRCh38]
Chr3:160073830 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2138A>G (p.Asp713Gly) single nucleotide variant Jeune thoracic dystrophy [RCV001304316] Chr3:160268498 [GRCh38]
Chr3:159986286 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1550C>T (p.Thr517Ile) single nucleotide variant Jeune thoracic dystrophy [RCV001352154] Chr3:160280781 [GRCh38]
Chr3:159998569 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.659G>A (p.Arg220His) single nucleotide variant Jeune thoracic dystrophy [RCV001299348] Chr3:160356131 [GRCh38]
Chr3:160073919 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.269A>G (p.His90Arg) single nucleotide variant Jeune thoracic dystrophy [RCV001351581] Chr3:160377531 [GRCh38]
Chr3:160095319 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.686A>C (p.Glu229Ala) single nucleotide variant Jeune thoracic dystrophy [RCV001343642] Chr3:160356104 [GRCh38]
Chr3:160073892 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.950C>A (p.Ala317Asp) single nucleotide variant Jeune thoracic dystrophy [RCV001299799] Chr3:160319767 [GRCh38]
Chr3:160037555 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.192G>T (p.Trp64Cys) single nucleotide variant Inborn genetic diseases [RCV004629595]|Jeune thoracic dystrophy [RCV001350498]|not provided [RCV002509668] Chr3:160381570 [GRCh38]
Chr3:160099358 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.401C>G (p.Ser134Ter) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV001280940] Chr3:160375850 [GRCh38]
Chr3:160093638 [GRCh37]
Chr3:3q25.33		 likely pathogenic
NM_020800.3(IFT80):c.685G>A (p.Glu229Lys) single nucleotide variant Jeune thoracic dystrophy [RCV001325370] Chr3:160356105 [GRCh38]
Chr3:160073893 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1316-4del deletion Jeune thoracic dystrophy [RCV001433136] Chr3:160285872 [GRCh38]
Chr3:160003660 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1412A>G (p.Lys471Arg) single nucleotide variant Jeune thoracic dystrophy [RCV001362437] Chr3:160282582 [GRCh38]
Chr3:160000370 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2040T>A (p.Leu680=) single nucleotide variant Jeune thoracic dystrophy [RCV001421499] Chr3:160277365 [GRCh38]
Chr3:159995153 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2286G>A (p.Glu762=) single nucleotide variant IFT80-related disorder [RCV003953760]|Jeune thoracic dystrophy [RCV001415244] Chr3:160258573 [GRCh38]
Chr3:159976361 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1378A>G (p.Lys460Glu) single nucleotide variant Inborn genetic diseases [RCV003284254]|not provided [RCV001358032] Chr3:160285806 [GRCh38]
Chr3:160003594 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1151+8A>G single nucleotide variant Jeune thoracic dystrophy [RCV001433713] Chr3:160303907 [GRCh38]
Chr3:160021695 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1076+6C>A single nucleotide variant Jeune thoracic dystrophy [RCV001314460] Chr3:160307657 [GRCh38]
Chr3:160025445 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1726G>A (p.Ala576Thr) single nucleotide variant Jeune thoracic dystrophy [RCV001351899] Chr3:160279303 [GRCh38]
Chr3:159997091 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1229C>A (p.Pro410His) single nucleotide variant Jeune thoracic dystrophy [RCV001371383] Chr3:160300969 [GRCh38]
Chr3:160018757 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2174C>T (p.Thr725Ile) single nucleotide variant Jeune thoracic dystrophy [RCV001323971] Chr3:160268462 [GRCh38]
Chr3:159986250 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.835A>G (p.Ile279Val) single nucleotide variant Inborn genetic diseases [RCV002547759]|Jeune thoracic dystrophy [RCV001360901] Chr3:160319882 [GRCh38]
Chr3:160037670 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1219C>T (p.Pro407Ser) single nucleotide variant Jeune thoracic dystrophy [RCV001372103] Chr3:160300979 [GRCh38]
Chr3:160018767 [GRCh37]
Chr3:3q25.33		 uncertain significance
NC_000003.11:g.(?_160075257)_(160075386_?)del deletion Jeune thoracic dystrophy [RCV001362981] Chr3:160075257..160075386 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1204C>T (p.Arg402Cys) single nucleotide variant Inborn genetic diseases [RCV002546194]|Jeune thoracic dystrophy [RCV001326737] Chr3:160300994 [GRCh38]
Chr3:160018782 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1625G>A (p.Arg542Lys) single nucleotide variant Jeune thoracic dystrophy [RCV001315946] Chr3:160280706 [GRCh38]
Chr3:159998494 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.743C>T (p.Ser248Leu) single nucleotide variant Jeune thoracic dystrophy [RCV001367698] Chr3:160356047 [GRCh38]
Chr3:160073835 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.379G>T (p.Asp127Tyr) single nucleotide variant Jeune thoracic dystrophy [RCV001320519] Chr3:160375872 [GRCh38]
Chr3:160093660 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1552T>C (p.Cys518Arg) single nucleotide variant Jeune thoracic dystrophy [RCV001320571] Chr3:160280779 [GRCh38]
Chr3:159998567 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1512G>T (p.Lys504Asn) single nucleotide variant Jeune thoracic dystrophy [RCV001344094] Chr3:160282482 [GRCh38]
Chr3:160000270 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.131C>A (p.Thr44Asn) single nucleotide variant Jeune thoracic dystrophy [RCV001326940] Chr3:160381631 [GRCh38]
Chr3:160099419 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1295G>C (p.Arg432Thr) single nucleotide variant Jeune thoracic dystrophy [RCV001299421] Chr3:160300903 [GRCh38]
Chr3:160018691 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1836G>A (p.Lys612=) single nucleotide variant Jeune thoracic dystrophy [RCV001344410] Chr3:160279193 [GRCh38]
Chr3:159996981 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.515T>A (p.Ile172Asn) single nucleotide variant Jeune thoracic dystrophy [RCV001297692] Chr3:160366077 [GRCh38]
Chr3:160083865 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.64T>C (p.Trp22Arg) single nucleotide variant Jeune thoracic dystrophy [RCV001364264] Chr3:160381698 [GRCh38]
Chr3:160099486 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.461C>T (p.Ala154Val) single nucleotide variant Inborn genetic diseases [RCV002548649]|Jeune thoracic dystrophy [RCV001370967] Chr3:160366131 [GRCh38]
Chr3:160083919 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1556A>G (p.Asn519Ser) single nucleotide variant Jeune thoracic dystrophy [RCV001364547] Chr3:160280775 [GRCh38]
Chr3:159998563 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1222A>G (p.Lys408Glu) single nucleotide variant Jeune thoracic dystrophy [RCV001318405] Chr3:160300976 [GRCh38]
Chr3:160018764 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2297G>C (p.Ser766Thr) single nucleotide variant Jeune thoracic dystrophy [RCV001366219] Chr3:160258562 [GRCh38]
Chr3:159976350 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1913C>G (p.Ala638Gly) single nucleotide variant Jeune thoracic dystrophy [RCV001299592] Chr3:160277594 [GRCh38]
Chr3:159995382 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.763T>C (p.Cys255Arg) single nucleotide variant Jeune thoracic dystrophy [RCV001368760] Chr3:160356027 [GRCh38]
Chr3:160073815 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1607A>G (p.Asn536Ser) single nucleotide variant Jeune thoracic dystrophy [RCV001370076] Chr3:160280724 [GRCh38]
Chr3:159998512 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.999C>T (p.Phe333=) single nucleotide variant Jeune thoracic dystrophy [RCV001412876] Chr3:160307740 [GRCh38]
Chr3:160025528 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.351A>G (p.Glu117=) single nucleotide variant Jeune thoracic dystrophy [RCV001413515] Chr3:160377449 [GRCh38]
Chr3:160095237 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.377A>C (p.Glu126Ala) single nucleotide variant Jeune thoracic dystrophy [RCV001306741] Chr3:160375874 [GRCh38]
Chr3:160093662 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.759C>T (p.Arg253=) single nucleotide variant Jeune thoracic dystrophy [RCV001395226] Chr3:160356031 [GRCh38]
Chr3:160073819 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.778-4C>T single nucleotide variant IFT80-related disorder [RCV003920921]|Jeune thoracic dystrophy [RCV001424318] Chr3:160319943 [GRCh38]
Chr3:160037731 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.550-18T>C single nucleotide variant Jeune thoracic dystrophy [RCV001515523] Chr3:160357596 [GRCh38]
Chr3:160075384 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.1381-14dup duplication Jeune thoracic dystrophy [RCV001515828] Chr3:160282619..160282620 [GRCh38]
Chr3:160000407..160000408 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.2224-19_2224-18dup duplication Jeune thoracic dystrophy [RCV001509976] Chr3:160258644..160258645 [GRCh38]
Chr3:159976432..159976433 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.727T>C (p.Leu243=) single nucleotide variant Jeune thoracic dystrophy [RCV001503931] Chr3:160356063 [GRCh38]
Chr3:160073851 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1151+15T>A single nucleotide variant Jeune thoracic dystrophy [RCV001397908] Chr3:160303900 [GRCh38]
Chr3:160021688 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.440-27dup duplication Jeune thoracic dystrophy [RCV001521594] Chr3:160366169..160366170 [GRCh38]
Chr3:160083957..160083958 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.991C>T (p.Leu331=) single nucleotide variant Jeune thoracic dystrophy [RCV001491743] Chr3:160307748 [GRCh38]
Chr3:160025536 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2049C>T (p.Gly683=) single nucleotide variant IFT80-related disorder [RCV003908741]|Jeune thoracic dystrophy [RCV001484606] Chr3:160277356 [GRCh38]
Chr3:159995144 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.447A>G (p.Pro149=) single nucleotide variant Jeune thoracic dystrophy [RCV001484625] Chr3:160366145 [GRCh38]
Chr3:160083933 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.259+18A>G single nucleotide variant Jeune thoracic dystrophy [RCV001512547] Chr3:160381485 [GRCh38]
Chr3:160099273 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.639+1del deletion Jeune thoracic dystrophy [RCV001389037] Chr3:160357488 [GRCh38]
Chr3:160075276 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.13A>C (p.Ile5Leu) single nucleotide variant Connective tissue disorder [RCV002276752]|Jeune thoracic dystrophy [RCV001512673] Chr3:160384588 [GRCh38]
Chr3:160102376 [GRCh37]
Chr3:3q25.33		 benign|uncertain significance
NM_020800.3(IFT80):c.38-4A>G single nucleotide variant Jeune thoracic dystrophy [RCV001448721] Chr3:160381728 [GRCh38]
Chr3:160099516 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2244A>G (p.Lys748=) single nucleotide variant Jeune thoracic dystrophy [RCV001430302] Chr3:160258615 [GRCh38]
Chr3:159976403 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.440-2A>G single nucleotide variant Jeune thoracic dystrophy [RCV001378148] Chr3:160366154 [GRCh38]
Chr3:160083942 [GRCh37]
Chr3:3q25.33		 likely pathogenic
NM_020800.3(IFT80):c.837C>T (p.Ile279=) single nucleotide variant Jeune thoracic dystrophy [RCV001399647] Chr3:160319880 [GRCh38]
Chr3:160037668 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1882C>T (p.Arg628Ter) single nucleotide variant Jeune thoracic dystrophy [RCV001384026] Chr3:160277625 [GRCh38]
Chr3:159995413 [GRCh37]
Chr3:3q25.33		 pathogenic|likely pathogenic
NM_020800.3(IFT80):c.483G>A (p.Lys161=) single nucleotide variant Jeune thoracic dystrophy [RCV001403970] Chr3:160366109 [GRCh38]
Chr3:160083897 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1962T>C (p.Asn654=) single nucleotide variant Jeune thoracic dystrophy [RCV001491195] Chr3:160277443 [GRCh38]
Chr3:159995231 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.958-8T>C single nucleotide variant Jeune thoracic dystrophy [RCV001521492] Chr3:160307789 [GRCh38]
Chr3:160025577 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.640-8T>A single nucleotide variant Jeune thoracic dystrophy [RCV001503604] Chr3:160356158 [GRCh38]
Chr3:160073946 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.371-7T>C single nucleotide variant Jeune thoracic dystrophy [RCV001455521] Chr3:160375887 [GRCh38]
Chr3:160093675 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1076+164G>A single nucleotide variant not provided [RCV001654948] Chr3:160307499 [GRCh38]
Chr3:160025287 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.-46-213T>A single nucleotide variant not provided [RCV001670178] Chr3:160384859 [GRCh38]
Chr3:160102647 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.38-150dup duplication not provided [RCV001686174] Chr3:160381867..160381868 [GRCh38]
Chr3:160099655..160099656 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.2034A>T (p.Val678=) single nucleotide variant Jeune thoracic dystrophy [RCV001464324] Chr3:160277371 [GRCh38]
Chr3:159995159 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.440-18del deletion Jeune thoracic dystrophy [RCV001516270] Chr3:160366170 [GRCh38]
Chr3:160083958 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.778-7C>T single nucleotide variant Jeune thoracic dystrophy [RCV001484455] Chr3:160319946 [GRCh38]
Chr3:160037734 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1545C>T (p.Asn515=) single nucleotide variant Jeune thoracic dystrophy [RCV001442530] Chr3:160280786 [GRCh38]
Chr3:159998574 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1315+8T>C single nucleotide variant Jeune thoracic dystrophy [RCV001504747] Chr3:160300875 [GRCh38]
Chr3:160018663 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1665-15T>C single nucleotide variant Jeune thoracic dystrophy [RCV001458742] Chr3:160279379 [GRCh38]
Chr3:159997167 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1664+8T>C single nucleotide variant Jeune thoracic dystrophy [RCV001482292] Chr3:160280659 [GRCh38]
Chr3:159998447 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1665-7del deletion Jeune thoracic dystrophy [RCV001510673] Chr3:160279371 [GRCh38]
Chr3:159997159 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.259+16_259+18del deletion Jeune thoracic dystrophy [RCV001476367] Chr3:160381485..160381487 [GRCh38]
Chr3:160099273..160099275 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.972_973insNNNNNNNNTTTTTTTT (p.Asn325delinsXaaXaaXaaPhePheTer) microsatellite Jeune thoracic dystrophy [RCV001385751] Chr3:160307766..160307767 [GRCh38]
Chr3:160025554..160025555 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.639+10G>A single nucleotide variant Jeune thoracic dystrophy [RCV001394102] Chr3:160357479 [GRCh38]
Chr3:160075267 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.440-8T>A single nucleotide variant Jeune thoracic dystrophy [RCV001502697] Chr3:160366160 [GRCh38]
Chr3:160083948 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1926+13_1926+14inv inversion Jeune thoracic dystrophy [RCV001419197] Chr3:160277567..160277568 [GRCh38]
Chr3:159995355..159995356 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1152-1G>C single nucleotide variant Jeune thoracic dystrophy [RCV001378040] Chr3:160301047 [GRCh38]
Chr3:160018835 [GRCh37]
Chr3:3q25.33		 likely pathogenic
NM_020800.3(IFT80):c.1936G>C (p.Val646Leu) single nucleotide variant Jeune thoracic dystrophy [RCV002032800]|not provided [RCV001751936] Chr3:160277469 [GRCh38]
Chr3:159995257 [GRCh37]
Chr3:3q25.33		 uncertain significance
GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1 copy number loss not provided [RCV001795847] Chr3:143439359..165252122 [GRCh37]
Chr3:3q24-26.1		 pathogenic
NM_020800.3(IFT80):c.411dup (p.Met138fs) duplication Asphyxiating thoracic dystrophy 2 [RCV001802510]|Jeune thoracic dystrophy [RCV002541368] Chr3:160375839..160375840 [GRCh38]
Chr3:160093627..160093628 [GRCh37]
Chr3:3q25.33		 pathogenic|likely pathogenic
NM_020800.3(IFT80):c.1525G>A (p.Val509Met) single nucleotide variant Jeune thoracic dystrophy [RCV002001724] Chr3:160280806 [GRCh38]
Chr3:159998594 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.437A>G (p.Gln146Arg) single nucleotide variant Jeune thoracic dystrophy [RCV001889305] Chr3:160375814 [GRCh38]
Chr3:160093602 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1229C>T (p.Pro410Leu) single nucleotide variant Jeune thoracic dystrophy [RCV001864469] Chr3:160300969 [GRCh38]
Chr3:160018757 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.640-3T>G single nucleotide variant Jeune thoracic dystrophy [RCV001864319] Chr3:160356153 [GRCh38]
Chr3:160073941 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1837-3T>C single nucleotide variant Jeune thoracic dystrophy [RCV002007773] Chr3:160277673 [GRCh38]
Chr3:159995461 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.48A>T (p.Leu16Phe) single nucleotide variant Jeune thoracic dystrophy [RCV001950416] Chr3:160381714 [GRCh38]
Chr3:160099502 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.207G>A (p.Leu69=) single nucleotide variant Jeune thoracic dystrophy [RCV001894379] Chr3:160381555 [GRCh38]
Chr3:160099343 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1121G>A (p.Gly374Glu) single nucleotide variant Jeune thoracic dystrophy [RCV002045380] Chr3:160303945 [GRCh38]
Chr3:160021733 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1610C>G (p.Thr537Arg) single nucleotide variant Jeune thoracic dystrophy [RCV001915295] Chr3:160280721 [GRCh38]
Chr3:159998509 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.624A>C (p.Glu208Asp) single nucleotide variant Jeune thoracic dystrophy [RCV002024663] Chr3:160357504 [GRCh38]
Chr3:160075292 [GRCh37]
Chr3:3q25.33		 uncertain significance
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333) copy number gain not specified [RCV002053382] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33		 pathogenic
NM_020800.3(IFT80):c.1520C>T (p.Thr507Ile) single nucleotide variant Jeune thoracic dystrophy [RCV002043019] Chr3:160280811 [GRCh38]
Chr3:159998599 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1315del (p.Lys438_Ile439insTer) deletion not provided [RCV001847436] Chr3:160300883 [GRCh38]
Chr3:160018671 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1436T>A (p.Ile479Asn) single nucleotide variant Jeune thoracic dystrophy [RCV001947800] Chr3:160282558 [GRCh38]
Chr3:160000346 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1320C>A (p.Ile440=) single nucleotide variant Jeune thoracic dystrophy [RCV001948152] Chr3:160285864 [GRCh38]
Chr3:160003652 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.962G>A (p.Arg321His) single nucleotide variant Jeune thoracic dystrophy [RCV001985170]|not provided [RCV004774559] Chr3:160307777 [GRCh38]
Chr3:160025565 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1452A>T (p.Lys484Asn) single nucleotide variant Jeune thoracic dystrophy [RCV001984198] Chr3:160282542 [GRCh38]
Chr3:160000330 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1286T>C (p.Ile429Thr) single nucleotide variant Jeune thoracic dystrophy [RCV002021602] Chr3:160300912 [GRCh38]
Chr3:160018700 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1420A>G (p.Thr474Ala) single nucleotide variant Jeune thoracic dystrophy [RCV001967642] Chr3:160282574 [GRCh38]
Chr3:160000362 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2215G>A (p.Ala739Thr) single nucleotide variant Jeune thoracic dystrophy [RCV001965638] Chr3:160268421 [GRCh38]
Chr3:159986209 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2282G>C (p.Arg761Thr) single nucleotide variant Jeune thoracic dystrophy [RCV001871409] Chr3:160258577 [GRCh38]
Chr3:159976365 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.625G>T (p.Asp209Tyr) single nucleotide variant Jeune thoracic dystrophy [RCV002003400] Chr3:160357503 [GRCh38]
Chr3:160075291 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1868T>C (p.Met623Thr) single nucleotide variant Jeune thoracic dystrophy [RCV001872946] Chr3:160277639 [GRCh38]
Chr3:159995427 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1030T>C (p.Tyr344His) single nucleotide variant Jeune thoracic dystrophy [RCV001872596] Chr3:160307709 [GRCh38]
Chr3:160025497 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.550-16T>C single nucleotide variant Jeune thoracic dystrophy [RCV001889302] Chr3:160357594 [GRCh38]
Chr3:160075382 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1675A>G (p.Lys559Glu) single nucleotide variant Jeune thoracic dystrophy [RCV002007625] Chr3:160279354 [GRCh38]
Chr3:159997142 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.757C>T (p.Arg253Cys) single nucleotide variant Jeune thoracic dystrophy [RCV002042407] Chr3:160356033 [GRCh38]
Chr3:160073821 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.37+6C>A single nucleotide variant Jeune thoracic dystrophy [RCV001969678] Chr3:160384558 [GRCh38]
Chr3:160102346 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2155C>T (p.Arg719Cys) single nucleotide variant Jeune thoracic dystrophy [RCV001890404] Chr3:160268481 [GRCh38]
Chr3:159986269 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1858C>G (p.Leu620Val) single nucleotide variant Jeune thoracic dystrophy [RCV002004671] Chr3:160277649 [GRCh38]
Chr3:159995437 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.225_226insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAACAAACC (p.Gln76fs) insertion Jeune thoracic dystrophy [RCV001969766] Chr3:160381536..160381537 [GRCh38]
Chr3:160099324..160099325 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.142A>G (p.Thr48Ala) single nucleotide variant Jeune thoracic dystrophy [RCV001968291] Chr3:160381620 [GRCh38]
Chr3:160099408 [GRCh37]
Chr3:3q25.33		 uncertain significance
GRCh37/hg19 3q25.31-25.33(chr3:156768935-160158553) copy number gain not specified [RCV002053381] Chr3:156768935..160158553 [GRCh37]
Chr3:3q25.31-25.33		 uncertain significance
NM_020800.3(IFT80):c.517A>C (p.Lys173Gln) single nucleotide variant Jeune thoracic dystrophy [RCV001984978] Chr3:160366075 [GRCh38]
Chr3:160083863 [GRCh37]
Chr3:3q25.33		 uncertain significance
GRCh37/hg19 3q24-25.33(chr3:145486960-160504834) copy number gain not specified [RCV002053375] Chr3:145486960..160504834 [GRCh37]
Chr3:3q24-25.33		 pathogenic
NM_020800.3(IFT80):c.1354G>A (p.Gly452Ser) single nucleotide variant Jeune thoracic dystrophy [RCV001965583] Chr3:160285830 [GRCh38]
Chr3:160003618 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.331G>A (p.Ala111Thr) single nucleotide variant Jeune thoracic dystrophy [RCV001888021] Chr3:160377469 [GRCh38]
Chr3:160095257 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1922G>C (p.Gly641Ala) single nucleotide variant Jeune thoracic dystrophy [RCV001980400] Chr3:160277585 [GRCh38]
Chr3:159995373 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.751A>T (p.Thr251Ser) single nucleotide variant Jeune thoracic dystrophy [RCV001920381] Chr3:160356039 [GRCh38]
Chr3:160073827 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1627G>A (p.Asp543Asn) single nucleotide variant Jeune thoracic dystrophy [RCV001942724] Chr3:160280704 [GRCh38]
Chr3:159998492 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2033T>G (p.Val678Gly) single nucleotide variant Jeune thoracic dystrophy [RCV001995732] Chr3:160277372 [GRCh38]
Chr3:159995160 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1715C>T (p.Thr572Ile) single nucleotide variant Jeune thoracic dystrophy [RCV001922694] Chr3:160279314 [GRCh38]
Chr3:159997102 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.619G>A (p.Gly207Ser) single nucleotide variant Jeune thoracic dystrophy [RCV001941326] Chr3:160357509 [GRCh38]
Chr3:160075297 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1115A>G (p.Lys372Arg) single nucleotide variant Jeune thoracic dystrophy [RCV002000938] Chr3:160303951 [GRCh38]
Chr3:160021739 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1826G>A (p.Arg609His) single nucleotide variant Asphyxiating thoracic dystrophy 2 [RCV003134229]|Inborn genetic diseases [RCV002557612]|Jeune thoracic dystrophy [RCV001937879] Chr3:160279203 [GRCh38]
Chr3:159996991 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1297G>A (p.Asp433Asn) single nucleotide variant Jeune thoracic dystrophy [RCV001884803] Chr3:160300901 [GRCh38]
Chr3:160018689 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1066del (p.Tyr356fs) deletion Jeune thoracic dystrophy [RCV001941646] Chr3:160307673 [GRCh38]
Chr3:160025461 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.1324C>T (p.Leu442Phe) single nucleotide variant Jeune thoracic dystrophy [RCV001963585] Chr3:160285860 [GRCh38]
Chr3:160003648 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.352G>A (p.Gly118Arg) single nucleotide variant Jeune thoracic dystrophy [RCV001990720] Chr3:160377448 [GRCh38]
Chr3:160095236 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.551G>A (p.Trp184Ter) single nucleotide variant Jeune thoracic dystrophy [RCV002000201] Chr3:160357577 [GRCh38]
Chr3:160075365 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.1389_1397del (p.Leu464_Ile466del) deletion Jeune thoracic dystrophy [RCV002037999] Chr3:160282597..160282605 [GRCh38]
Chr3:160000385..160000393 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.521C>T (p.Pro174Leu) single nucleotide variant Jeune thoracic dystrophy [RCV001961727] Chr3:160366071 [GRCh38]
Chr3:160083859 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1094C>T (p.Thr365Ile) single nucleotide variant Jeune thoracic dystrophy [RCV001870354] Chr3:160303972 [GRCh38]
Chr3:160021760 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.36G>A (p.Lys12=) single nucleotide variant Jeune thoracic dystrophy [RCV002010782] Chr3:160384565 [GRCh38]
Chr3:160102353 [GRCh37]
Chr3:3q25.33		 uncertain significance
NC_000003.11:g.(?_160000246)_(160003676_?)del deletion Jeune thoracic dystrophy [RCV002012150] Chr3:160000246..160003676 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.394A>C (p.Ile132Leu) single nucleotide variant Jeune thoracic dystrophy [RCV001919533] Chr3:160375857 [GRCh38]
Chr3:160093645 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.178A>G (p.Ile60Val) single nucleotide variant Jeune thoracic dystrophy [RCV001930331] Chr3:160381584 [GRCh38]
Chr3:160099372 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.764G>T (p.Cys255Phe) single nucleotide variant Jeune thoracic dystrophy [RCV001989512] Chr3:160356026 [GRCh38]
Chr3:160073814 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.448G>C (p.Val150Leu) single nucleotide variant Jeune thoracic dystrophy [RCV001989610] Chr3:160366144 [GRCh38]
Chr3:160083932 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.777+5G>A single nucleotide variant Jeune thoracic dystrophy [RCV001867181] Chr3:160356008 [GRCh38]
Chr3:160073796 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1405G>T (p.Asp469Tyr) single nucleotide variant Jeune thoracic dystrophy [RCV001996447] Chr3:160282589 [GRCh38]
Chr3:160000377 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1775T>C (p.Leu592Pro) single nucleotide variant Jeune thoracic dystrophy [RCV001940905] Chr3:160279254 [GRCh38]
Chr3:159997042 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1292T>C (p.Ile431Thr) single nucleotide variant Jeune thoracic dystrophy [RCV001900655] Chr3:160300906 [GRCh38]
Chr3:160018694 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1303G>A (p.Ala435Thr) single nucleotide variant Jeune thoracic dystrophy [RCV002010631] Chr3:160300895 [GRCh38]
Chr3:160018683 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1315A>G (p.Ile439Val) single nucleotide variant Jeune thoracic dystrophy [RCV001920892] Chr3:160300883 [GRCh38]
Chr3:160018671 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1380+15C>A single nucleotide variant Jeune thoracic dystrophy [RCV002009736] Chr3:160285789 [GRCh38]
Chr3:160003577 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.898_899del (p.Glu300fs) deletion Jeune thoracic dystrophy [RCV001972150] Chr3:160319818..160319819 [GRCh38]
Chr3:160037606..160037607 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.514A>G (p.Ile172Val) single nucleotide variant Jeune thoracic dystrophy [RCV001916064] Chr3:160366078 [GRCh38]
Chr3:160083866 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.769A>G (p.Lys257Glu) single nucleotide variant Jeune thoracic dystrophy [RCV001977353] Chr3:160356021 [GRCh38]
Chr3:160073809 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1388del (p.Ile463fs) deletion Jeune thoracic dystrophy [RCV002035346] Chr3:160282606 [GRCh38]
Chr3:160000394 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.2302C>T (p.Gln768Ter) single nucleotide variant Jeune thoracic dystrophy [RCV001979619] Chr3:160258557 [GRCh38]
Chr3:159976345 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1380+2del deletion Jeune thoracic dystrophy [RCV002034239] Chr3:160285802 [GRCh38]
Chr3:160003590 [GRCh37]
Chr3:3q25.33		 likely pathogenic
NM_020800.3(IFT80):c.1009G>A (p.Val337Ile) single nucleotide variant Jeune thoracic dystrophy [RCV001905249] Chr3:160307730 [GRCh38]
Chr3:160025518 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.230C>A (p.Ala77Glu) single nucleotide variant Jeune thoracic dystrophy [RCV001906909] Chr3:160381532 [GRCh38]
Chr3:160099320 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.680C>T (p.Pro227Leu) single nucleotide variant Jeune thoracic dystrophy [RCV001924122] Chr3:160356110 [GRCh38]
Chr3:160073898 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.286G>A (p.Gly96Arg) single nucleotide variant Jeune thoracic dystrophy [RCV001925171] Chr3:160377514 [GRCh38]
Chr3:160095302 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.612A>T (p.Leu204Phe) single nucleotide variant Jeune thoracic dystrophy [RCV001883538] Chr3:160357516 [GRCh38]
Chr3:160075304 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2244A>T (p.Lys748Asn) single nucleotide variant Jeune thoracic dystrophy [RCV001906332] Chr3:160258615 [GRCh38]
Chr3:159976403 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1104A>G (p.Ile368Met) single nucleotide variant Jeune thoracic dystrophy [RCV001926181] Chr3:160303962 [GRCh38]
Chr3:160021750 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1224A>G (p.Lys408=) single nucleotide variant Jeune thoracic dystrophy [RCV001931452] Chr3:160300974 [GRCh38]
Chr3:160018762 [GRCh37]
Chr3:3q25.33		 likely benign|uncertain significance
NM_020800.3(IFT80):c.1283C>A (p.Thr428Asn) single nucleotide variant Jeune thoracic dystrophy [RCV001867150] Chr3:160300915 [GRCh38]
Chr3:160018703 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.92G>A (p.Cys31Tyr) single nucleotide variant Jeune thoracic dystrophy [RCV002048075] Chr3:160381670 [GRCh38]
Chr3:160099458 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.206T>G (p.Leu69Trp) single nucleotide variant Jeune thoracic dystrophy [RCV001937258] Chr3:160381556 [GRCh38]
Chr3:160099344 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1997T>C (p.Leu666Pro) single nucleotide variant Jeune thoracic dystrophy [RCV002009821] Chr3:160277408 [GRCh38]
Chr3:159995196 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2028A>C (p.Glu676Asp) single nucleotide variant Jeune thoracic dystrophy [RCV001897191] Chr3:160277377 [GRCh38]
Chr3:159995165 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1006A>G (p.Arg336Gly) single nucleotide variant Jeune thoracic dystrophy [RCV001900191] Chr3:160307733 [GRCh38]
Chr3:160025521 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1717A>G (p.Ile573Val) single nucleotide variant Jeune thoracic dystrophy [RCV001956870] Chr3:160279312 [GRCh38]
Chr3:159997100 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2094G>C (p.Trp698Cys) single nucleotide variant Jeune thoracic dystrophy [RCV001995028] Chr3:160277311 [GRCh38]
Chr3:159995099 [GRCh37]
Chr3:3q25.33		 uncertain significance
NC_000003.11:g.(?_159976313)_(159976443_?)dup duplication Jeune thoracic dystrophy [RCV001923154] Chr3:159976313..159976443 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1522A>G (p.Met508Val) single nucleotide variant Jeune thoracic dystrophy [RCV001991242] Chr3:160280809 [GRCh38]
Chr3:159998597 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.462G>C (p.Ala154=) single nucleotide variant Jeune thoracic dystrophy [RCV002168837] Chr3:160366130 [GRCh38]
Chr3:160083918 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.639+9T>C single nucleotide variant Jeune thoracic dystrophy [RCV002075954] Chr3:160357480 [GRCh38]
Chr3:160075268 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1320C>T (p.Ile440=) single nucleotide variant Jeune thoracic dystrophy [RCV002168711] Chr3:160285864 [GRCh38]
Chr3:160003652 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.360A>G (p.Ala120=) single nucleotide variant Jeune thoracic dystrophy [RCV002147662] Chr3:160377440 [GRCh38]
Chr3:160095228 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.810C>A (p.Gly270=) single nucleotide variant Jeune thoracic dystrophy [RCV002074972] Chr3:160319907 [GRCh38]
Chr3:160037695 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.657C>T (p.Gly219=) single nucleotide variant Jeune thoracic dystrophy [RCV002210346] Chr3:160356133 [GRCh38]
Chr3:160073921 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1315+17A>G single nucleotide variant Jeune thoracic dystrophy [RCV002127739] Chr3:160300866 [GRCh38]
Chr3:160018654 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.37+15C>T single nucleotide variant Jeune thoracic dystrophy [RCV002086568] Chr3:160384549 [GRCh38]
Chr3:160102337 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.550-4A>T single nucleotide variant Connective tissue disorder [RCV002277041]|Jeune thoracic dystrophy [RCV002186604] Chr3:160357582 [GRCh38]
Chr3:160075370 [GRCh37]
Chr3:3q25.33		 likely benign|uncertain significance
NM_020800.3(IFT80):c.1560C>T (p.Ile520=) single nucleotide variant Jeune thoracic dystrophy [RCV002147061] Chr3:160280771 [GRCh38]
Chr3:159998559 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1200A>G (p.Glu400=) single nucleotide variant Jeune thoracic dystrophy [RCV002189209] Chr3:160300998 [GRCh38]
Chr3:160018786 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1215A>G (p.Ser405=) single nucleotide variant Jeune thoracic dystrophy [RCV002209703] Chr3:160300983 [GRCh38]
Chr3:160018771 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1076+8T>C single nucleotide variant Jeune thoracic dystrophy [RCV002106656] Chr3:160307655 [GRCh38]
Chr3:160025443 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.640-4G>A single nucleotide variant Jeune thoracic dystrophy [RCV002107179] Chr3:160356154 [GRCh38]
Chr3:160073942 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1926+11A>G single nucleotide variant Jeune thoracic dystrophy [RCV002111526] Chr3:160277570 [GRCh38]
Chr3:159995358 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2224-20dup duplication Jeune thoracic dystrophy [RCV002109756] Chr3:160258654..160258655 [GRCh38]
Chr3:159976442..159976443 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.371-20A>T single nucleotide variant Jeune thoracic dystrophy [RCV002097740] Chr3:160375900 [GRCh38]
Chr3:160093688 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1386A>G (p.Glu462=) single nucleotide variant Jeune thoracic dystrophy [RCV002195074] Chr3:160282608 [GRCh38]
Chr3:160000396 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2224-18T>C single nucleotide variant Jeune thoracic dystrophy [RCV002212737] Chr3:160258653 [GRCh38]
Chr3:159976441 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.958-7T>C single nucleotide variant Jeune thoracic dystrophy [RCV002132741] Chr3:160307788 [GRCh38]
Chr3:160025576 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1664+16G>A single nucleotide variant Jeune thoracic dystrophy [RCV002111209] Chr3:160280651 [GRCh38]
Chr3:159998439 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.371-19T>G single nucleotide variant Jeune thoracic dystrophy [RCV002173834] Chr3:160375899 [GRCh38]
Chr3:160093687 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1517-9_1517-7del deletion Jeune thoracic dystrophy [RCV002150358] Chr3:160280821..160280823 [GRCh38]
Chr3:159998609..159998611 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.348T>C (p.Tyr116=) single nucleotide variant Jeune thoracic dystrophy [RCV002114919] Chr3:160377452 [GRCh38]
Chr3:160095240 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.60G>T (p.Val20=) single nucleotide variant Jeune thoracic dystrophy [RCV002152202] Chr3:160381702 [GRCh38]
Chr3:160099490 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.371-11T>C single nucleotide variant Jeune thoracic dystrophy [RCV002152784] Chr3:160375891 [GRCh38]
Chr3:160093679 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1554C>T (p.Cys518=) single nucleotide variant Jeune thoracic dystrophy [RCV002216091] Chr3:160280777 [GRCh38]
Chr3:159998565 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1516+18C>T single nucleotide variant Jeune thoracic dystrophy [RCV002076971] Chr3:160282460 [GRCh38]
Chr3:160000248 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1665-11T>C single nucleotide variant Jeune thoracic dystrophy [RCV002151061] Chr3:160279375 [GRCh38]
Chr3:159997163 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.549+16T>C single nucleotide variant Jeune thoracic dystrophy [RCV002215249] Chr3:160366027 [GRCh38]
Chr3:160083815 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.744G>A (p.Ser248=) single nucleotide variant Jeune thoracic dystrophy [RCV002191004] Chr3:160356046 [GRCh38]
Chr3:160073834 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.777+16G>A single nucleotide variant Jeune thoracic dystrophy [RCV002193208] Chr3:160355997 [GRCh38]
Chr3:160073785 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2223+20G>A single nucleotide variant Jeune thoracic dystrophy [RCV002173622] Chr3:160268393 [GRCh38]
Chr3:159986181 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2292A>G (p.Ser764=) single nucleotide variant Jeune thoracic dystrophy [RCV002094561] Chr3:160258567 [GRCh38]
Chr3:159976355 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1738C>T (p.Leu580=) single nucleotide variant Jeune thoracic dystrophy [RCV002115273] Chr3:160279291 [GRCh38]
Chr3:159997079 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.381T>C (p.Asp127=) single nucleotide variant Jeune thoracic dystrophy [RCV002096105] Chr3:160375870 [GRCh38]
Chr3:160093658 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1665-12T>A single nucleotide variant Jeune thoracic dystrophy [RCV002215295] Chr3:160279376 [GRCh38]
Chr3:159997164 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1516+17A>G single nucleotide variant Jeune thoracic dystrophy [RCV002105493] Chr3:160282461 [GRCh38]
Chr3:160000249 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1380+10A>G single nucleotide variant Jeune thoracic dystrophy [RCV002212907] Chr3:160285794 [GRCh38]
Chr3:160003582 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1665-7dup duplication Jeune thoracic dystrophy [RCV002150766] Chr3:160279370..160279371 [GRCh38]
Chr3:159997158..159997159 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.2099+19A>C single nucleotide variant Jeune thoracic dystrophy [RCV002155551] Chr3:160277287 [GRCh38]
Chr3:159995075 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2073C>A (p.Ile691=) single nucleotide variant Jeune thoracic dystrophy [RCV002120261] Chr3:160277332 [GRCh38]
Chr3:159995120 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1381-15T>A single nucleotide variant Jeune thoracic dystrophy [RCV002204890] Chr3:160282628 [GRCh38]
Chr3:160000416 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.37+20A>G single nucleotide variant Jeune thoracic dystrophy [RCV002142690] Chr3:160384544 [GRCh38]
Chr3:160102332 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2224-13_2224-10del deletion Jeune thoracic dystrophy [RCV002101314] Chr3:160258645..160258648 [GRCh38]
Chr3:159976433..159976436 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1167A>G (p.Val389=) single nucleotide variant Jeune thoracic dystrophy [RCV002164596] Chr3:160301031 [GRCh38]
Chr3:160018819 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1293A>T (p.Ile431=) single nucleotide variant Jeune thoracic dystrophy [RCV002182968] Chr3:160300905 [GRCh38]
Chr3:160018693 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.371-11del deletion Jeune thoracic dystrophy [RCV002203857] Chr3:160375891 [GRCh38]
Chr3:160093679 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.612A>G (p.Leu204=) single nucleotide variant Jeune thoracic dystrophy [RCV002200799] Chr3:160357516 [GRCh38]
Chr3:160075304 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.156G>A (p.Lys52=) single nucleotide variant Jeune thoracic dystrophy [RCV002176483] Chr3:160381606 [GRCh38]
Chr3:160099394 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1281T>C (p.Asp427=) single nucleotide variant Jeune thoracic dystrophy [RCV002161605] Chr3:160300917 [GRCh38]
Chr3:160018705 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1664+15C>T single nucleotide variant Jeune thoracic dystrophy [RCV002103838] Chr3:160280652 [GRCh38]
Chr3:159998440 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.939G>A (p.Thr313=) single nucleotide variant Jeune thoracic dystrophy [RCV002156701] Chr3:160319778 [GRCh38]
Chr3:160037566 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1151+14T>C single nucleotide variant Jeune thoracic dystrophy [RCV002160349] Chr3:160303901 [GRCh38]
Chr3:160021689 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1797A>G (p.Ser599=) single nucleotide variant Jeune thoracic dystrophy [RCV002218079] Chr3:160279232 [GRCh38]
Chr3:159997020 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1926+11A>T single nucleotide variant Jeune thoracic dystrophy [RCV003110425] Chr3:160277570 [GRCh38]
Chr3:159995358 [GRCh37]
Chr3:3q25.33		 likely benign
NC_000003.11:g.(?_160083811)_(160099532_?)del deletion Jeune thoracic dystrophy [RCV003109748] Chr3:160083811..160099532 [GRCh37]
Chr3:3q25.33		 pathogenic
NC_000003.11:g.(?_160073781)_(160099532_?)del deletion Jeune thoracic dystrophy [RCV003109749] Chr3:160073781..160099532 [GRCh37]
Chr3:3q25.33		 pathogenic
NC_000003.11:g.(?_160073781)_(160083960_?)del deletion Jeune thoracic dystrophy [RCV003109750] Chr3:160073781..160083960 [GRCh37]
Chr3:3q25.33		 pathogenic
NC_000003.11:g.(?_159976313)_(160102388_?)dup duplication Jeune thoracic dystrophy [RCV003109751] Chr3:159976313..160102388 [GRCh37]
Chr3:3q25.33		 uncertain significance
NC_000003.11:g.(?_159976313)_(160075386_?)dup duplication Jeune thoracic dystrophy [RCV003109752] Chr3:159976313..160075386 [GRCh37]
Chr3:3q25.33		 uncertain significance
NC_000003.11:g.(?_159992649)_(160000363_?)del deletion Jeune thoracic dystrophy [RCV003109753] Chr3:159992649..160000363 [GRCh37]
Chr3:3q25.33		 likely pathogenic
NM_020800.3(IFT80):c.650G>A (p.Ser217Asn) single nucleotide variant Jeune thoracic dystrophy [RCV003110652] Chr3:160356140 [GRCh38]
Chr3:160073928 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1001G>A (p.Arg334His) single nucleotide variant Jeune thoracic dystrophy [RCV003115863] Chr3:160307738 [GRCh38]
Chr3:160025526 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.736G>C (p.Val246Leu) single nucleotide variant Jeune thoracic dystrophy [RCV003117154] Chr3:160356054 [GRCh38]
Chr3:160073842 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2083C>G (p.Leu695Val) single nucleotide variant Jeune thoracic dystrophy [RCV003116263] Chr3:160277322 [GRCh38]
Chr3:159995110 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.670A>T (p.Asn224Tyr) single nucleotide variant Connective tissue disorder [RCV002278767] Chr3:160356120 [GRCh38]
Chr3:160073908 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1227T>G (p.Phe409Leu) single nucleotide variant Inborn genetic diseases [RCV003281734] Chr3:160300971 [GRCh38]
Chr3:160018759 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1837G>A (p.Glu613Lys) single nucleotide variant Jeune thoracic dystrophy [RCV002303634] Chr3:160277670 [GRCh38]
Chr3:159995458 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.559C>T (p.His187Tyr) single nucleotide variant Jeune thoracic dystrophy [RCV002303109] Chr3:160357569 [GRCh38]
Chr3:160075357 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1381-9A>C single nucleotide variant Jeune thoracic dystrophy [RCV003015100] Chr3:160282622 [GRCh38]
Chr3:160000410 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.403A>C (p.Lys135Gln) single nucleotide variant Jeune thoracic dystrophy [RCV002861713] Chr3:160375848 [GRCh38]
Chr3:160093636 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.930A>G (p.Val310=) single nucleotide variant Jeune thoracic dystrophy [RCV003011716] Chr3:160319787 [GRCh38]
Chr3:160037575 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.715C>T (p.Pro239Ser) single nucleotide variant Inborn genetic diseases [RCV002883666] Chr3:160356075 [GRCh38]
Chr3:160073863 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1777C>T (p.His593Tyr) single nucleotide variant Jeune thoracic dystrophy [RCV002839474] Chr3:160279252 [GRCh38]
Chr3:159997040 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2086T>C (p.Tyr696His) single nucleotide variant Jeune thoracic dystrophy [RCV002842805] Chr3:160277319 [GRCh38]
Chr3:159995107 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2100-17T>C single nucleotide variant Jeune thoracic dystrophy [RCV002974915] Chr3:160268553 [GRCh38]
Chr3:159986341 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1150A>G (p.Arg384Gly) single nucleotide variant Jeune thoracic dystrophy [RCV003077036] Chr3:160303916 [GRCh38]
Chr3:160021704 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.304G>A (p.Val102Ile) single nucleotide variant Jeune thoracic dystrophy [RCV002780006] Chr3:160377496 [GRCh38]
Chr3:160095284 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1961dup (p.Asn654fs) duplication Jeune thoracic dystrophy [RCV002615960] Chr3:160277443..160277444 [GRCh38]
Chr3:159995231..159995232 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.1655G>C (p.Arg552Thr) single nucleotide variant Jeune thoracic dystrophy [RCV003075087] Chr3:160280676 [GRCh38]
Chr3:159998464 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.301A>G (p.Ser101Gly) single nucleotide variant Jeune thoracic dystrophy [RCV002615815] Chr3:160377499 [GRCh38]
Chr3:160095287 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2050C>T (p.Leu684Phe) single nucleotide variant Jeune thoracic dystrophy [RCV002726760] Chr3:160277355 [GRCh38]
Chr3:159995143 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.118T>A (p.Trp40Arg) single nucleotide variant Jeune thoracic dystrophy [RCV002815472] Chr3:160381644 [GRCh38]
Chr3:160099432 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.317G>C (p.Cys106Ser) single nucleotide variant Jeune thoracic dystrophy [RCV002907762] Chr3:160377483 [GRCh38]
Chr3:160095271 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1229C>G (p.Pro410Arg) single nucleotide variant Jeune thoracic dystrophy [RCV003014976] Chr3:160300969 [GRCh38]
Chr3:160018757 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1319T>C (p.Ile440Thr) single nucleotide variant Jeune thoracic dystrophy [RCV003075594] Chr3:160285865 [GRCh38]
Chr3:160003653 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.550-18del deletion Jeune thoracic dystrophy [RCV002756150] Chr3:160357596 [GRCh38]
Chr3:160075384 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.24A>G (p.Leu8=) single nucleotide variant Jeune thoracic dystrophy [RCV002971920] Chr3:160384577 [GRCh38]
Chr3:160102365 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.214A>G (p.Lys72Glu) single nucleotide variant Inborn genetic diseases [RCV002777516] Chr3:160381548 [GRCh38]
Chr3:160099336 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1549A>G (p.Thr517Ala) single nucleotide variant Jeune thoracic dystrophy [RCV002847807] Chr3:160280782 [GRCh38]
Chr3:159998570 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1315+10_1315+17dup duplication Jeune thoracic dystrophy [RCV002953574] Chr3:160300865..160300866 [GRCh38]
Chr3:160018653..160018654 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.957+17A>T single nucleotide variant Jeune thoracic dystrophy [RCV002796220] Chr3:160319743 [GRCh38]
Chr3:160037531 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2020G>A (p.Glu674Lys) single nucleotide variant Jeune thoracic dystrophy [RCV003081309] Chr3:160277385 [GRCh38]
Chr3:159995173 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1517-10T>C single nucleotide variant Jeune thoracic dystrophy [RCV002866867] Chr3:160280824 [GRCh38]
Chr3:159998612 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1847T>C (p.Met616Thr) single nucleotide variant Jeune thoracic dystrophy [RCV003039152] Chr3:160277660 [GRCh38]
Chr3:159995448 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2318T>C (p.Ile773Thr) single nucleotide variant Jeune thoracic dystrophy [RCV002795212] Chr3:160258541 [GRCh38]
Chr3:159976329 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1818A>G (p.Arg606=) single nucleotide variant Jeune thoracic dystrophy [RCV002800225] Chr3:160279211 [GRCh38]
Chr3:159996999 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.760T>G (p.Leu254Val) single nucleotide variant Jeune thoracic dystrophy [RCV002824172] Chr3:160356030 [GRCh38]
Chr3:160073818 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2329C>T (p.Pro777Ser) single nucleotide variant Jeune thoracic dystrophy [RCV002846346] Chr3:160258530 [GRCh38]
Chr3:159976318 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1624A>G (p.Arg542Gly) single nucleotide variant Jeune thoracic dystrophy [RCV002797379] Chr3:160280707 [GRCh38]
Chr3:159998495 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.825T>G (p.Ile275Met) single nucleotide variant Jeune thoracic dystrophy [RCV003037839] Chr3:160319892 [GRCh38]
Chr3:160037680 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.777+19C>T single nucleotide variant Jeune thoracic dystrophy [RCV003036324] Chr3:160355994 [GRCh38]
Chr3:160073782 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.260-4T>G single nucleotide variant Jeune thoracic dystrophy [RCV003077163] Chr3:160377544 [GRCh38]
Chr3:160095332 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1129A>G (p.Ser377Gly) single nucleotide variant Jeune thoracic dystrophy [RCV002590651] Chr3:160303937 [GRCh38]
Chr3:160021725 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1815G>A (p.Val605=) single nucleotide variant Jeune thoracic dystrophy [RCV003077475] Chr3:160279214 [GRCh38]
Chr3:159997002 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2224-7A>G single nucleotide variant Jeune thoracic dystrophy [RCV002637245] Chr3:160258642 [GRCh38]
Chr3:159976430 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.957+20T>C single nucleotide variant Jeune thoracic dystrophy [RCV002785225] Chr3:160319740 [GRCh38]
Chr3:160037528 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.440-18T>A single nucleotide variant Jeune thoracic dystrophy [RCV002662516] Chr3:160366170 [GRCh38]
Chr3:160083958 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.601G>T (p.Asp201Tyr) single nucleotide variant Jeune thoracic dystrophy [RCV002639436] Chr3:160357527 [GRCh38]
Chr3:160075315 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1926+9T>G single nucleotide variant Jeune thoracic dystrophy [RCV002949363] Chr3:160277572 [GRCh38]
Chr3:159995360 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1507A>G (p.Ile503Val) single nucleotide variant Jeune thoracic dystrophy [RCV002659611] Chr3:160282487 [GRCh38]
Chr3:160000275 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1285A>G (p.Ile429Val) single nucleotide variant Jeune thoracic dystrophy [RCV003054366] Chr3:160300913 [GRCh38]
Chr3:160018701 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1152-13C>A single nucleotide variant Jeune thoracic dystrophy [RCV002979359] Chr3:160301059 [GRCh38]
Chr3:160018847 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1907C>T (p.Ala636Val) single nucleotide variant Jeune thoracic dystrophy [RCV003080988] Chr3:160277600 [GRCh38]
Chr3:159995388 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.371-11dup duplication Jeune thoracic dystrophy [RCV002795766] Chr3:160375890..160375891 [GRCh38]
Chr3:160093678..160093679 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.2124C>G (p.Tyr708Ter) single nucleotide variant Jeune thoracic dystrophy [RCV002638590] Chr3:160268512 [GRCh38]
Chr3:159986300 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.464G>A (p.Trp155Ter) single nucleotide variant Jeune thoracic dystrophy [RCV002572488] Chr3:160366128 [GRCh38]
Chr3:160083916 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.440-18T>C single nucleotide variant Jeune thoracic dystrophy [RCV003085988] Chr3:160366170 [GRCh38]
Chr3:160083958 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.550-14_550-12del deletion Jeune thoracic dystrophy [RCV002890371] Chr3:160357590..160357592 [GRCh38]
Chr3:160075378..160075380 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.260-8T>G single nucleotide variant Jeune thoracic dystrophy [RCV002876418] Chr3:160377548 [GRCh38]
Chr3:160095336 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2132A>G (p.His711Arg) single nucleotide variant Jeune thoracic dystrophy [RCV003059819] Chr3:160268504 [GRCh38]
Chr3:159986292 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.370+20G>A single nucleotide variant Jeune thoracic dystrophy [RCV002593938] Chr3:160377410 [GRCh38]
Chr3:160095198 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.593C>T (p.Ser198Leu) single nucleotide variant Inborn genetic diseases [RCV004067063]|Jeune thoracic dystrophy [RCV002933166] Chr3:160357535 [GRCh38]
Chr3:160075323 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2061A>G (p.Gln687=) single nucleotide variant Jeune thoracic dystrophy [RCV002766236] Chr3:160277344 [GRCh38]
Chr3:159995132 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.957+1G>A single nucleotide variant Jeune thoracic dystrophy [RCV003085069] Chr3:160319759 [GRCh38]
Chr3:160037547 [GRCh37]
Chr3:3q25.33		 likely pathogenic
NM_020800.3(IFT80):c.1891A>G (p.Thr631Ala) single nucleotide variant Jeune thoracic dystrophy [RCV002890600] Chr3:160277616 [GRCh38]
Chr3:159995404 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1583G>A (p.Arg528Gln) single nucleotide variant Jeune thoracic dystrophy [RCV002766262] Chr3:160280748 [GRCh38]
Chr3:159998536 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2085del (p.Tyr696fs) deletion Jeune thoracic dystrophy [RCV002766821] Chr3:160277320 [GRCh38]
Chr3:159995108 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.189C>T (p.His63=) single nucleotide variant Jeune thoracic dystrophy [RCV002575921] Chr3:160381573 [GRCh38]
Chr3:160099361 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.156G>C (p.Lys52Asn) single nucleotide variant Jeune thoracic dystrophy [RCV002791224] Chr3:160381606 [GRCh38]
Chr3:160099394 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2100-13T>C single nucleotide variant Jeune thoracic dystrophy [RCV002852260] Chr3:160268549 [GRCh38]
Chr3:159986337 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.548A>T (p.Gln183Leu) single nucleotide variant Jeune thoracic dystrophy [RCV002741253] Chr3:160366044 [GRCh38]
Chr3:160083832 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1664+1G>A single nucleotide variant Jeune thoracic dystrophy [RCV002828837] Chr3:160280666 [GRCh38]
Chr3:159998454 [GRCh37]
Chr3:3q25.33		 likely pathogenic
NM_020800.3(IFT80):c.1949A>G (p.Asn650Ser) single nucleotide variant Jeune thoracic dystrophy [RCV003023919] Chr3:160277456 [GRCh38]
Chr3:159995244 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2223+11C>G single nucleotide variant Jeune thoracic dystrophy [RCV003022998] Chr3:160268402 [GRCh38]
Chr3:159986190 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.38-17C>T single nucleotide variant Jeune thoracic dystrophy [RCV002710874] Chr3:160381741 [GRCh38]
Chr3:160099529 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1287A>G (p.Ile429Met) single nucleotide variant Jeune thoracic dystrophy [RCV002932064] Chr3:160300911 [GRCh38]
Chr3:160018699 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1845C>T (p.Thr615=) single nucleotide variant Jeune thoracic dystrophy [RCV002740939] Chr3:160277662 [GRCh38]
Chr3:159995450 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1954A>T (p.Ile652Leu) single nucleotide variant Jeune thoracic dystrophy [RCV002596230] Chr3:160277451 [GRCh38]
Chr3:159995239 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.639+18T>C single nucleotide variant Jeune thoracic dystrophy [RCV002667001] Chr3:160357471 [GRCh38]
Chr3:160075259 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.778-16G>T single nucleotide variant Jeune thoracic dystrophy [RCV003049262] Chr3:160319955 [GRCh38]
Chr3:160037743 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.37C>G (p.His13Asp) single nucleotide variant Jeune thoracic dystrophy [RCV002631695] Chr3:160384564 [GRCh38]
Chr3:160102352 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1484G>A (p.Arg495Gln) single nucleotide variant Inborn genetic diseases [RCV004066751]|Jeune thoracic dystrophy [RCV002675703] Chr3:160282510 [GRCh38]
Chr3:160000298 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.328C>T (p.Leu110Phe) single nucleotide variant Inborn genetic diseases [RCV002920015] Chr3:160377472 [GRCh38]
Chr3:160095260 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1291A>G (p.Ile431Val) single nucleotide variant Jeune thoracic dystrophy [RCV002715073] Chr3:160300907 [GRCh38]
Chr3:160018695 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1215A>C (p.Ser405=) single nucleotide variant Jeune thoracic dystrophy [RCV002770865] Chr3:160300983 [GRCh38]
Chr3:160018771 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.749A>T (p.His250Leu) single nucleotide variant Jeune thoracic dystrophy [RCV002922706] Chr3:160356041 [GRCh38]
Chr3:160073829 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.120G>A (p.Trp40Ter) single nucleotide variant Jeune thoracic dystrophy [RCV002963402] Chr3:160381642 [GRCh38]
Chr3:160099430 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.951del (p.Met318fs) deletion Jeune thoracic dystrophy [RCV002646881] Chr3:160319766 [GRCh38]
Chr3:160037554 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.778-17T>G single nucleotide variant Jeune thoracic dystrophy [RCV002988415] Chr3:160319956 [GRCh38]
Chr3:160037744 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.440-17C>A single nucleotide variant Jeune thoracic dystrophy [RCV002646236] Chr3:160366169 [GRCh38]
Chr3:160083957 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.951C>T (p.Ala317=) single nucleotide variant Jeune thoracic dystrophy [RCV002671895] Chr3:160319766 [GRCh38]
Chr3:160037554 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1473T>C (p.Thr491=) single nucleotide variant Jeune thoracic dystrophy [RCV002632076] Chr3:160282521 [GRCh38]
Chr3:160000309 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2103A>G (p.Ala701=) single nucleotide variant Jeune thoracic dystrophy [RCV003062996] Chr3:160268533 [GRCh38]
Chr3:159986321 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1060C>A (p.Gln354Lys) single nucleotide variant Jeune thoracic dystrophy [RCV002938769] Chr3:160307679 [GRCh38]
Chr3:160025467 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2229A>G (p.Gln743=) single nucleotide variant Jeune thoracic dystrophy [RCV002579292] Chr3:160258630 [GRCh38]
Chr3:159976418 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2119A>T (p.Lys707Ter) single nucleotide variant Jeune thoracic dystrophy [RCV003031131] Chr3:160268517 [GRCh38]
Chr3:159986305 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.37+16T>A single nucleotide variant Jeune thoracic dystrophy [RCV002938039] Chr3:160384548 [GRCh38]
Chr3:160102336 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1152-7T>G single nucleotide variant Jeune thoracic dystrophy [RCV002602565] Chr3:160301053 [GRCh38]
Chr3:160018841 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.260-14G>A single nucleotide variant Jeune thoracic dystrophy [RCV002933624] Chr3:160377554 [GRCh38]
Chr3:160095342 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2223+15A>G single nucleotide variant Jeune thoracic dystrophy [RCV003061043] Chr3:160268398 [GRCh38]
Chr3:159986186 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.38-9dup duplication Jeune thoracic dystrophy [RCV002857652] Chr3:160381732..160381733 [GRCh38]
Chr3:160099520..160099521 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.627C>A (p.Asp209Glu) single nucleotide variant Jeune thoracic dystrophy [RCV003061691] Chr3:160357501 [GRCh38]
Chr3:160075289 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1486T>C (p.Phe496Leu) single nucleotide variant Jeune thoracic dystrophy [RCV002895191] Chr3:160282508 [GRCh38]
Chr3:160000296 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.919A>C (p.Asn307His) single nucleotide variant Inborn genetic diseases [RCV002830991] Chr3:160319798 [GRCh38]
Chr3:160037586 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1068C>T (p.Tyr356=) single nucleotide variant Jeune thoracic dystrophy [RCV002963415] Chr3:160307671 [GRCh38]
Chr3:160025459 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.28G>T (p.Glu10Ter) single nucleotide variant Jeune thoracic dystrophy [RCV002720456] Chr3:160384573 [GRCh38]
Chr3:160102361 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.896T>C (p.Val299Ala) single nucleotide variant Jeune thoracic dystrophy [RCV002647696] Chr3:160319821 [GRCh38]
Chr3:160037609 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1755A>C (p.Ile585=) single nucleotide variant Jeune thoracic dystrophy [RCV002635588] Chr3:160279274 [GRCh38]
Chr3:159997062 [GRCh37]
Chr3:3q25.33		 benign
NM_020800.3(IFT80):c.549+7C>G single nucleotide variant Jeune thoracic dystrophy [RCV003093463] Chr3:160366036 [GRCh38]
Chr3:160083824 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1080G>A (p.Thr360=) single nucleotide variant Jeune thoracic dystrophy [RCV002943715] Chr3:160303986 [GRCh38]
Chr3:160021774 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1936G>A (p.Val646Ile) single nucleotide variant Jeune thoracic dystrophy [RCV002725377] Chr3:160277469 [GRCh38]
Chr3:159995257 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.824T>C (p.Ile275Thr) single nucleotide variant Jeune thoracic dystrophy [RCV002726149] Chr3:160319893 [GRCh38]
Chr3:160037681 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1989_1990del (p.Ile665fs) deletion Jeune thoracic dystrophy [RCV002944081] Chr3:160277415..160277416 [GRCh38]
Chr3:159995203..159995204 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.1198G>A (p.Glu400Lys) single nucleotide variant Jeune thoracic dystrophy [RCV002588824] Chr3:160301000 [GRCh38]
Chr3:160018788 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1380+15C>T single nucleotide variant Jeune thoracic dystrophy [RCV002634178] Chr3:160285789 [GRCh38]
Chr3:160003577 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.440-4A>G single nucleotide variant Jeune thoracic dystrophy [RCV002609626] Chr3:160366156 [GRCh38]
Chr3:160083944 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2099G>A (p.Arg700Lys) single nucleotide variant Jeune thoracic dystrophy [RCV002633173] Chr3:160277306 [GRCh38]
Chr3:159995094 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1483C>T (p.Arg495Ter) single nucleotide variant Jeune thoracic dystrophy [RCV002606023] Chr3:160282511 [GRCh38]
Chr3:160000299 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.1993A>G (p.Ile665Val) single nucleotide variant Jeune thoracic dystrophy [RCV002658209] Chr3:160277412 [GRCh38]
Chr3:159995200 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1076+1G>A single nucleotide variant Jeune thoracic dystrophy [RCV002582465] Chr3:160307662 [GRCh38]
Chr3:160025450 [GRCh37]
Chr3:3q25.33		 likely pathogenic
NM_020800.3(IFT80):c.1761A>G (p.Pro587=) single nucleotide variant Jeune thoracic dystrophy [RCV003068142] Chr3:160279268 [GRCh38]
Chr3:159997056 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.719A>C (p.Asp240Ala) single nucleotide variant Jeune thoracic dystrophy [RCV002589277] Chr3:160356071 [GRCh38]
Chr3:160073859 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1028A>T (p.Asn343Ile) single nucleotide variant Jeune thoracic dystrophy [RCV002604012] Chr3:160307711 [GRCh38]
Chr3:160025499 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.491A>T (p.Tyr164Phe) single nucleotide variant Inborn genetic diseases [RCV003210322] Chr3:160366101 [GRCh38]
Chr3:160083889 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1429A>G (p.Arg477Gly) single nucleotide variant Inborn genetic diseases [RCV003205535] Chr3:160282565 [GRCh38]
Chr3:160000353 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1665-1del deletion Asphyxiating thoracic dystrophy 2 [RCV003146175] Chr3:160279365 [GRCh38]
Chr3:159997153 [GRCh37]
Chr3:3q25.33		 likely pathogenic
NM_020800.3(IFT80):c.629G>A (p.Cys210Tyr) single nucleotide variant Inborn genetic diseases [RCV003205267] Chr3:160357499 [GRCh38]
Chr3:160075287 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1831G>C (p.Val611Leu) single nucleotide variant Inborn genetic diseases [RCV003207385] Chr3:160279198 [GRCh38]
Chr3:159996986 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1495G>C (p.Glu499Gln) single nucleotide variant Inborn genetic diseases [RCV003373714] Chr3:160282499 [GRCh38]
Chr3:160000287 [GRCh37]
Chr3:3q25.33		 uncertain significance
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29		 pathogenic
NM_020800.3(IFT80):c.2085C>A (p.Leu695=) single nucleotide variant Jeune thoracic dystrophy [RCV003826234] Chr3:160277320 [GRCh38]
Chr3:159995108 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2224-20_2224-17del deletion Jeune thoracic dystrophy [RCV003749669] Chr3:160258652..160258655 [GRCh38]
Chr3:159976440..159976443 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.957+8T>C single nucleotide variant Jeune thoracic dystrophy [RCV003749813] Chr3:160319752 [GRCh38]
Chr3:160037540 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2322T>C (p.Gly774=) single nucleotide variant Jeune thoracic dystrophy [RCV003832954] Chr3:160258537 [GRCh38]
Chr3:159976325 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1689T>A (p.Ile563=) single nucleotide variant Jeune thoracic dystrophy [RCV003749096] Chr3:160279340 [GRCh38]
Chr3:159997128 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2094G>A (p.Trp698Ter) single nucleotide variant Jeune thoracic dystrophy [RCV003749483] Chr3:160277311 [GRCh38]
Chr3:159995099 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.640-11T>C single nucleotide variant Jeune thoracic dystrophy [RCV003749011] Chr3:160356161 [GRCh38]
Chr3:160073949 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.654C>T (p.Tyr218=) single nucleotide variant Jeune thoracic dystrophy [RCV003749060] Chr3:160356136 [GRCh38]
Chr3:160073924 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.639+9T>A single nucleotide variant Jeune thoracic dystrophy [RCV003749001] Chr3:160357480 [GRCh38]
Chr3:160075268 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.958-8T>A single nucleotide variant Jeune thoracic dystrophy [RCV003749305] Chr3:160307789 [GRCh38]
Chr3:160025577 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1635G>A (p.Leu545=) single nucleotide variant Jeune thoracic dystrophy [RCV003814288] Chr3:160280696 [GRCh38]
Chr3:159998484 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.701C>G (p.Ser234Ter) single nucleotide variant Jeune thoracic dystrophy [RCV003749077] Chr3:160356089 [GRCh38]
Chr3:160073877 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.1140G>T (p.Leu380=) single nucleotide variant Jeune thoracic dystrophy [RCV003749485] Chr3:160303926 [GRCh38]
Chr3:160021714 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.387A>G (p.Gln129=) single nucleotide variant Jeune thoracic dystrophy [RCV003749599] Chr3:160375864 [GRCh38]
Chr3:160093652 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1038C>T (p.His346=) single nucleotide variant Jeune thoracic dystrophy [RCV003749549] Chr3:160307701 [GRCh38]
Chr3:160025489 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1918A>G (p.Ile640Val) single nucleotide variant Jeune thoracic dystrophy [RCV003750145]|not provided [RCV004696557] Chr3:160277589 [GRCh38]
Chr3:159995377 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1837-13T>C single nucleotide variant Jeune thoracic dystrophy [RCV003586809] Chr3:160277683 [GRCh38]
Chr3:159995471 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.141A>G (p.Thr47=) single nucleotide variant Jeune thoracic dystrophy [RCV003866584] Chr3:160381621 [GRCh38]
Chr3:160099409 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.873A>G (p.Gly291=) single nucleotide variant Jeune thoracic dystrophy [RCV003587902] Chr3:160319844 [GRCh38]
Chr3:160037632 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.847C>T (p.Gln283Ter) single nucleotide variant Jeune thoracic dystrophy [RCV003586957] Chr3:160319870 [GRCh38]
Chr3:160037658 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.663A>G (p.Pro221=) single nucleotide variant Jeune thoracic dystrophy [RCV003587103] Chr3:160356127 [GRCh38]
Chr3:160073915 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1516+2T>C single nucleotide variant Jeune thoracic dystrophy [RCV003586694] Chr3:160282476 [GRCh38]
Chr3:160000264 [GRCh37]
Chr3:3q25.33		 likely pathogenic
NM_020800.3(IFT80):c.1517-11T>C single nucleotide variant Jeune thoracic dystrophy [RCV003586550] Chr3:160280825 [GRCh38]
Chr3:159998613 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.128T>G (p.Leu43Ter) single nucleotide variant Jeune thoracic dystrophy [RCV003587710] Chr3:160381634 [GRCh38]
Chr3:160099422 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.855T>C (p.Ala285=) single nucleotide variant Jeune thoracic dystrophy [RCV003587359] Chr3:160319862 [GRCh38]
Chr3:160037650 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.958-15T>C single nucleotide variant Jeune thoracic dystrophy [RCV003748549] Chr3:160307796 [GRCh38]
Chr3:160025584 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.439+12A>C single nucleotide variant Jeune thoracic dystrophy [RCV003586568] Chr3:160375800 [GRCh38]
Chr3:160093588 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.439+14T>C single nucleotide variant Jeune thoracic dystrophy [RCV003823159] Chr3:160375798 [GRCh38]
Chr3:160093586 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.440-22_440-18del deletion Jeune thoracic dystrophy [RCV003748877] Chr3:160366170..160366174 [GRCh38]
Chr3:160083958..160083962 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1086C>T (p.Asn362=) single nucleotide variant Jeune thoracic dystrophy [RCV003748901] Chr3:160303980 [GRCh38]
Chr3:160021768 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2043G>A (p.Gln681=) single nucleotide variant Jeune thoracic dystrophy [RCV003748162] Chr3:160277362 [GRCh38]
Chr3:159995150 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2025T>G (p.Ala675=) single nucleotide variant Jeune thoracic dystrophy [RCV003819027] Chr3:160277380 [GRCh38]
Chr3:159995168 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.949G>A (p.Ala317Thr) single nucleotide variant Jeune thoracic dystrophy [RCV003748528] Chr3:160319768 [GRCh38]
Chr3:160037556 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1315+14T>C single nucleotide variant Jeune thoracic dystrophy [RCV003748071] Chr3:160300869 [GRCh38]
Chr3:160018657 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.12G>A (p.Lys4=) single nucleotide variant Jeune thoracic dystrophy [RCV003748088] Chr3:160384589 [GRCh38]
Chr3:160102377 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1866dup (p.Met623fs) duplication Jeune thoracic dystrophy [RCV003748713] Chr3:160277640..160277641 [GRCh38]
Chr3:159995428..159995429 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.1381-20A>C single nucleotide variant Jeune thoracic dystrophy [RCV003748755] Chr3:160282633 [GRCh38]
Chr3:160000421 [GRCh37]
Chr3:3q25.33		 likely benign
NC_000003.12:g.160307782_160307783insACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAACATTACGAACC insertion Jeune thoracic dystrophy [RCV003586538] Chr3:160307766..160307767 [GRCh38]
Chr3:160025554..160025555 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.1836+20C>T single nucleotide variant Jeune thoracic dystrophy [RCV003586716] Chr3:160279173 [GRCh38]
Chr3:159996961 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1836+8A>G single nucleotide variant Jeune thoracic dystrophy [RCV003587963] Chr3:160279185 [GRCh38]
Chr3:159996973 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.1380+12T>A single nucleotide variant Jeune thoracic dystrophy [RCV003587984] Chr3:160285792 [GRCh38]
Chr3:160003580 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.744G>T (p.Ser248=) single nucleotide variant Jeune thoracic dystrophy [RCV003818938] Chr3:160356046 [GRCh38]
Chr3:160073834 [GRCh37]
Chr3:3q25.33		 likely benign
NM_020800.3(IFT80):c.2039T>C (p.Leu680Pro) single nucleotide variant IFT80-related disorder [RCV003969790] Chr3:160277366 [GRCh38]
Chr3:159995154 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.199A>G (p.Lys67Glu) single nucleotide variant Inborn genetic diseases [RCV004400365] Chr3:160381563 [GRCh38]
Chr3:160099351 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.2201G>A (p.Arg734Gln) single nucleotide variant Inborn genetic diseases [RCV004400366] Chr3:160268435 [GRCh38]
Chr3:159986223 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.56G>A (p.Cys19Tyr) single nucleotide variant Inborn genetic diseases [RCV004400368] Chr3:160381706 [GRCh38]
Chr3:160099494 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.799C>T (p.Pro267Ser) single nucleotide variant Inborn genetic diseases [RCV004400369] Chr3:160319918 [GRCh38]
Chr3:160037706 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1478T>C (p.Val493Ala) single nucleotide variant Inborn genetic diseases [RCV004400364] Chr3:160282516 [GRCh38]
Chr3:160000304 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1028A>G (p.Asn343Ser) single nucleotide variant Inborn genetic diseases [RCV004400363] Chr3:160307711 [GRCh38]
Chr3:160025499 [GRCh37]
Chr3:3q25.33		 uncertain significance
NC_000003.11:g.(?_159986181)_(160021797_?)del deletion Jeune thoracic dystrophy [RCV004580951] Chr3:159986181..160021797 [GRCh37]
Chr3:3q25.33		 pathogenic
NM_020800.3(IFT80):c.1268C>G (p.Ser423Cys) single nucleotide variant Inborn genetic diseases [RCV004627684] Chr3:160300930 [GRCh38]
Chr3:160018718 [GRCh37]
Chr3:3q25.33		 uncertain significance
NM_020800.3(IFT80):c.1204C>G (p.Arg402Gly) single nucleotide variant Inborn genetic diseases [RCV004627685] Chr3:160300994 [GRCh38]
Chr3:160018782 [GRCh37]
Chr3:3q25.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2893
Count of miRNA genes:971
Interacting mature miRNAs:1124
Transcripts:ENST00000326448, ENST00000461213, ENST00000463240, ENST00000465537, ENST00000465972, ENST00000466326, ENST00000467254, ENST00000468218, ENST00000468327, ENST00000472555, ENST00000472773, ENST00000475677, ENST00000477495, ENST00000478278, ENST00000478370, ENST00000478460, ENST00000478536, ENST00000482317, ENST00000483325, ENST00000483465, ENST00000484963, ENST00000486856, ENST00000487943, ENST00000489004, ENST00000496589, ENST00000498145, ENST00000498409
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406885697GWAS534673_Hsystolic blood pressure QTL GWAS534673 (human)1e-12systolic blood pressuresystolic blood pressure (CMO:0000004)3160320116160320117Human
407154311GWAS803287_Haspartate aminotransferase measurement QTL GWAS803287 (human)2e-11aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)3160320184160320185Human
407180102GWAS829078_HOral ulcer QTL GWAS829078 (human)1e-21Oral ulcer3160337849160337850Human
407365187GWAS1014163_Hserum gamma-glutamyl transferase measurement QTL GWAS1014163 (human)3e-35serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)3160392467160392468Human
407394369GWAS1043345_Hserum alanine aminotransferase measurement QTL GWAS1043345 (human)1e-23serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)3160308842160308843Human
407251275GWAS900251_Hpulse pressure measurement QTL GWAS900251 (human)1e-08pulse pressure measurementpulse pressure (CMO:0000292)3160286238160286239Human
407419398GWAS1068374_Hpulse pressure measurement QTL GWAS1068374 (human)2e-15pulse pressure measurementpulse pressure (CMO:0000292)3160320116160320117Human
407244823GWAS893799_Hglucose measurement QTL GWAS893799 (human)2e-09glucose measurementblood glucose level (CMO:0000046)3160364283160364284Human
407394398GWAS1043374_Hserum gamma-glutamyl transferase measurement QTL GWAS1043374 (human)2e-34serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)3160392467160392468Human
407251614GWAS900590_Htotal cholesterol measurement QTL GWAS900590 (human)2e-22total cholesterol measurementblood total cholesterol level (CMO:0000051)3160310226160310227Human
407152350GWAS801326_Hserum alanine aminotransferase measurement QTL GWAS801326 (human)7e-22serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)3160311344160311345Human
407253212GWAS902188_Htotal cholesterol measurement QTL GWAS902188 (human)3e-29total cholesterol measurementblood total cholesterol level (CMO:0000051)3160312176160312177Human
407249378GWAS898354_Hlow density lipoprotein cholesterol measurement QTL GWAS898354 (human)2e-18low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)3160310226160310227Human
407356783GWAS1005759_Hserum gamma-glutamyl transferase measurement QTL GWAS1005759 (human)5e-28serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)3160308842160308843Human
1300026BP36_HBlood pressure QTL 36 (human)4.04Blood pressurehypertension susceptibility3135720453161720453Human
407216553GWAS865529_Hlow density lipoprotein cholesterol measurement QTL GWAS865529 (human)1e-10low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)3160368267160368268Human
407225322GWAS874298_Hlow density lipoprotein cholesterol measurement QTL GWAS874298 (human)4e-10low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)3160286238160286239Human
407243958GWAS892934_Hglucose measurement QTL GWAS892934 (human)1e-09glucose measurementblood glucose level (CMO:0000046)3160364283160364284Human
407154037GWAS803013_Hserum alanine aminotransferase measurement QTL GWAS803013 (human)3e-17serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)3160320184160320185Human
407246270GWAS895246_Hnon-high density lipoprotein cholesterol measurement QTL GWAS895246 (human)5e-12non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)3160345568160345569Human
407206204GWAS855180_Hlow density lipoprotein cholesterol measurement QTL GWAS855180 (human)5e-13low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)3160324671160324672Human
407225151GWAS874127_Htotal cholesterol measurement QTL GWAS874127 (human)0.0000005total cholesterol measurementblood total cholesterol level (CMO:0000051)3160289746160289747Human
407077880GWAS726856_Hhigh density lipoprotein cholesterol measurement QTL GWAS726856 (human)2e-09high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)3160307499160307500Human
407225150GWAS874126_Htotal cholesterol measurement QTL GWAS874126 (human)0.000001total cholesterol measurementblood total cholesterol level (CMO:0000051)3160388342160388343Human
1298415BP24_HBlood pressure QTL 24 (human)2.9Blood pressurehypertension susceptibility3135720453161720453Human
407247802GWAS896778_Hlow density lipoprotein cholesterol measurement QTL GWAS896778 (human)2e-14low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)3160318612160318613Human
407246329GWAS895305_Hserum alanine aminotransferase measurement QTL GWAS895305 (human)2e-18serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)3160399019160399020Human

Markers in Region
RH121371  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373160,090,163 - 160,090,441UniSTSGRCh37
Build 363161,572,857 - 161,573,135RGDNCBI36
Celera3158,511,530 - 158,511,808RGD
Cytogenetic Map3q25.33UniSTS
HuRef3157,488,745 - 157,489,023UniSTS
TNG Radiation Hybrid Map349527.0UniSTS
SHGC-145195  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373160,000,564 - 160,000,851UniSTSGRCh37
Build 363161,483,258 - 161,483,545RGDNCBI36
Celera3158,421,931 - 158,422,218RGD
Cytogenetic Map3q25.33UniSTS
HuRef3157,399,215 - 157,399,502UniSTS
TNG Radiation Hybrid Map349450.0UniSTS
SHGC-37245  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373160,076,654 - 160,076,802UniSTSGRCh37
Build 363161,559,348 - 161,559,496RGDNCBI36
Celera3158,498,021 - 158,498,169RGD
Cytogenetic Map3q25.33UniSTS
HuRef3157,475,236 - 157,475,384UniSTS
Stanford-G3 RH Map37172.0UniSTS
NCBI RH Map31419.1UniSTS
GeneMap99-G3 RH Map37642.0UniSTS
D3S4120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373160,055,911 - 160,056,056UniSTSGRCh37
Build 363161,538,605 - 161,538,750RGDNCBI36
Celera3158,477,278 - 158,477,423RGD
Cytogenetic Map3q25.33UniSTS
HuRef3157,454,493 - 157,454,638UniSTS
Stanford-G3 RH Map37168.0UniSTS
NCBI RH Map31417.8UniSTS
STS-N68628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373160,076,617 - 160,076,786UniSTSGRCh37
Build 363161,559,311 - 161,559,480RGDNCBI36
Celera3158,497,984 - 158,498,153RGD
Cytogenetic Map3q25.33UniSTS
HuRef3157,475,199 - 157,475,368UniSTS
GeneMap99-GB4 RH Map3597.35UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
D16S325  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map10q11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3q13.32UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map2p13-p12UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map1p36.3-p34.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19q13.4UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1950 465 2270 7305 6471 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_022932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001190241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001190242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB037795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC024221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA421514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR000297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000326448   ⟹   ENSP00000312778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,256,986 - 160,399,225 (-)Ensembl
Ensembl Acc Id: ENST00000461213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,303,944 - 160,320,147 (-)Ensembl
Ensembl Acc Id: ENST00000463240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,258,419 - 160,277,478 (-)Ensembl
Ensembl Acc Id: ENST00000465537   ⟹   ENSP00000418602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,356,013 - 160,399,207 (-)Ensembl
Ensembl Acc Id: ENST00000465972
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,377,436 - 160,399,216 (-)Ensembl
Ensembl Acc Id: ENST00000466326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,384,601 - 160,399,880 (-)Ensembl
Ensembl Acc Id: ENST00000467254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,383,985 - 160,399,247 (-)Ensembl
Ensembl Acc Id: ENST00000468218   ⟹   ENSP00000417057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,366,055 - 160,399,223 (-)Ensembl
Ensembl Acc Id: ENST00000468327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,377,442 - 160,399,215 (-)Ensembl
Ensembl Acc Id: ENST00000472555   ⟹   ENSP00000420401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,303,916 - 160,357,499 (-)Ensembl
Ensembl Acc Id: ENST00000472773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,357,485 - 160,399,223 (-)Ensembl
Ensembl Acc Id: ENST00000475677   ⟹   ENSP00000419458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,357,485 - 160,399,544 (-)Ensembl
Ensembl Acc Id: ENST00000477495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,373,492 - 160,399,245 (-)Ensembl
Ensembl Acc Id: ENST00000478278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,258,403 - 160,268,761 (-)Ensembl
Ensembl Acc Id: ENST00000478370   ⟹   ENSP00000420758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,366,083 - 160,399,223 (-)Ensembl
Ensembl Acc Id: ENST00000478460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,319,833 - 160,399,221 (-)Ensembl
Ensembl Acc Id: ENST00000478536   ⟹   ENSP00000419468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,381,569 - 160,399,544 (-)Ensembl
Ensembl Acc Id: ENST00000482317   ⟹   ENSP00000418497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,375,819 - 160,399,216 (-)Ensembl
Ensembl Acc Id: ENST00000483325   ⟹   ENSP00000417552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,299,079 - 160,307,781 (-)Ensembl
Ensembl Acc Id: ENST00000483465   ⟹   ENSP00000418196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,256,992 - 160,383,656 (-)Ensembl
Ensembl Acc Id: ENST00000484963   ⟹   ENSP00000420260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,356,013 - 160,377,454 (-)Ensembl
Ensembl Acc Id: ENST00000486856   ⟹   ENSP00000417861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,366,083 - 160,399,216 (-)Ensembl
Ensembl Acc Id: ENST00000487943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,258,185 - 160,399,209 (-)Ensembl
Ensembl Acc Id: ENST00000489004   ⟹   ENSP00000418455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,377,436 - 160,399,247 (-)Ensembl
Ensembl Acc Id: ENST00000496589   ⟹   ENSP00000420646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,258,180 - 160,399,273 (-)Ensembl
Ensembl Acc Id: ENST00000498145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,381,605 - 160,399,520 (-)Ensembl
Ensembl Acc Id: ENST00000498409   ⟹   ENSP00000420001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3160,366,053 - 160,399,533 (-)Ensembl
RefSeq Acc Id: NM_001190241   ⟹   NP_001177170
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383160,256,986 - 160,399,225 (-)NCBI
GRCh373159,974,774 - 160,118,028 (-)NCBI
Celera3158,396,141 - 158,538,687 (-)RGD
HuRef3157,373,426 - 157,515,902 (-)ENTREZGENE
CHM1_13159,937,988 - 160,080,209 (-)NCBI
T2T-CHM13v2.03163,031,586 - 163,173,837 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001190242   ⟹   NP_001177171
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383160,256,986 - 160,383,766 (-)NCBI
GRCh373159,974,774 - 160,118,028 (-)NCBI
Celera3158,396,141 - 158,538,687 (-)RGD
HuRef3157,373,426 - 157,515,902 (-)ENTREZGENE
CHM1_13159,937,988 - 160,064,377 (-)NCBI
T2T-CHM13v2.03163,031,586 - 163,158,378 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020800   ⟹   NP_065851
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383160,256,986 - 160,399,225 (-)NCBI
GRCh373159,974,774 - 160,118,028 (-)NCBI
Build 363161,457,482 - 161,600,014 (-)NCBI Archive
Celera3158,396,141 - 158,538,687 (-)RGD
HuRef3157,373,426 - 157,515,902 (-)ENTREZGENE
CHM1_13159,937,988 - 160,080,209 (-)NCBI
T2T-CHM13v2.03163,031,586 - 163,173,837 (-)NCBI
Sequence:
RefSeq Acc Id: NP_065851   ⟸   NM_020800
- Peptide Label: isoform a
- UniProtKB: Q86YF4 (UniProtKB/Swiss-Prot),   Q3MJC4 (UniProtKB/Swiss-Prot),   C9J8I0 (UniProtKB/Swiss-Prot),   B4E0K1 (UniProtKB/Swiss-Prot),   Q9UIX1 (UniProtKB/Swiss-Prot),   Q9P2H3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001177170   ⟸   NM_001190241
- Peptide Label: isoform b
- UniProtKB: Q9P2H3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001177171   ⟸   NM_001190242
- Peptide Label: isoform b
- UniProtKB: Q9P2H3 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000420758   ⟸   ENST00000478370
Ensembl Acc Id: ENSP00000419468   ⟸   ENST00000478536
Ensembl Acc Id: ENSP00000418602   ⟸   ENST00000465537
Ensembl Acc Id: ENSP00000417057   ⟸   ENST00000468218
Ensembl Acc Id: ENSP00000418497   ⟸   ENST00000482317
Ensembl Acc Id: ENSP00000420646   ⟸   ENST00000496589
Ensembl Acc Id: ENSP00000417552   ⟸   ENST00000483325
Ensembl Acc Id: ENSP00000418196   ⟸   ENST00000483465
Ensembl Acc Id: ENSP00000312778   ⟸   ENST00000326448
Ensembl Acc Id: ENSP00000420001   ⟸   ENST00000498409
Ensembl Acc Id: ENSP00000420260   ⟸   ENST00000484963
Ensembl Acc Id: ENSP00000417861   ⟸   ENST00000486856
Ensembl Acc Id: ENSP00000420401   ⟸   ENST00000472555
Ensembl Acc Id: ENSP00000419458   ⟸   ENST00000475677
Ensembl Acc Id: ENSP00000418455   ⟸   ENST00000489004

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9P2H3-F1-model_v2 AlphaFold Q9P2H3 1-777 view protein structure

Promoters
RGD ID:6866156
Promoter ID:EPDNEW_H6243
Type:initiation region
Name:IFT80_3
Description:intraflagellar transport 80
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6244  EPDNEW_H6246  EPDNEW_H6248  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383160,381,651 - 160,381,711EPDNEW
RGD ID:6866158
Promoter ID:EPDNEW_H6244
Type:initiation region
Name:IFT80_1
Description:intraflagellar transport 80
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6243  EPDNEW_H6246  EPDNEW_H6248  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383160,399,216 - 160,399,276EPDNEW
RGD ID:6866162
Promoter ID:EPDNEW_H6246
Type:initiation region
Name:IFT80_2
Description:intraflagellar transport 80
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6243  EPDNEW_H6244  EPDNEW_H6248  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383160,399,530 - 160,399,590EPDNEW
RGD ID:6866166
Promoter ID:EPDNEW_H6248
Type:initiation region
Name:IFT80_4
Description:intraflagellar transport 80
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6243  EPDNEW_H6244  EPDNEW_H6246  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383160,400,334 - 160,400,394EPDNEW
RGD ID:6801175
Promoter ID:HG_KWN:46587
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000326448,   ENST00000360111,   NM_001002800,   NM_020800,   UC003FDD.1,   UC003FDE.1,   UC003FDF.1,   UC003FDG.1,   UC003FDI.1,   UC010HWA.1,   UC010HWC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363161,599,666 - 161,600,232 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29262 AgrOrtholog
COSMIC IFT80 COSMIC
Ensembl Genes ENSG00000068885 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000326448 ENTREZGENE
  ENST00000326448.12 UniProtKB/Swiss-Prot
  ENST00000465537.5 UniProtKB/TrEMBL
  ENST00000468218.5 UniProtKB/TrEMBL
  ENST00000472555.5 UniProtKB/TrEMBL
  ENST00000475677.5 UniProtKB/TrEMBL
  ENST00000478370.5 UniProtKB/TrEMBL
  ENST00000478536.1 UniProtKB/TrEMBL
  ENST00000482317.5 UniProtKB/TrEMBL