CUL7 (cullin 7) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: CUL7 (cullin 7) Homo sapiens
Analyze
Symbol: CUL7
Name: cullin 7
RGD ID: 1314380
HGNC Page HGNC:21024
Description: Enables ubiquitin ligase complex scaffold activity. Involved in several processes, including epithelial to mesenchymal transition; positive regulation of dendrite morphogenesis; and regulation of mitotic nuclear division. Acts upstream of or within insulin receptor signaling pathway; negative regulation of insulin receptor signaling pathway; and ubiquitin-dependent protein catabolic process. Located in Golgi apparatus; centrosome; and perinuclear region of cytoplasm. Part of 3M complex and Cul7-RING ubiquitin ligase complex. Implicated in 3-M syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 3M1; CUL-7; cullin-7; dJ20C7.5; KIAA0076
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38643,037,617 - 43,053,851 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl643,037,617 - 43,053,943 (-)Ensemblhg38GRCh38
GRCh37643,005,355 - 43,021,589 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36643,113,333 - 43,129,632 (-)NCBIBuild 36Build 36hg18NCBI36
Build 34643,113,333 - 43,129,632NCBI
Celera644,557,598 - 44,573,926 (-)NCBICelera
Cytogenetic Map6p21.1NCBI
HuRef642,722,458 - 42,738,676 (-)NCBIHuRef
CHM1_1643,007,804 - 43,024,128 (-)NCBICHM1_1
T2T-CHM13v2.0642,866,701 - 42,882,922 (-)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebral vascular morphology  (IAGP)
Abnormal dental enamel morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal metaphysis morphology  (IAGP)
Abnormality of the elbow  (IAGP)
Advanced ossification of carpal bones  (IAGP)
Anteverted nares  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bifid uvula  (IAGP)
Blue sclerae  (IAGP)
Broad foot  (IAGP)
Broad forehead  (IAGP)
Broad thumb  (IAGP)
Bulbous nose  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarse facial features  (IAGP)
Congenital hip dislocation  (IAGP)
Coxa valga  (IAGP)
Cutaneous syndactyly  (IAGP)
Decreased fertility  (IAGP)
Decreased testicular size  (IAGP)
Delayed ability to walk  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Dental crowding  (IAGP)
Depressed nasal bridge  (IAGP)
Dolichocephaly  (IAGP)
Enlarged thorax  (IAGP)
Epicanthus  (IAGP)
Epiphyseal dysplasia  (IAGP)
Everted lower lip vermilion  (IAGP)
Fetal onset  (IAGP)
Flat acetabular roof  (IAGP)
Flat face  (IAGP)
Frontal bossing  (IAGP)
Genu varum  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hip dislocation  (IAGP)
Horizontal ribs  (IAGP)
Hyperlordosis  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypoplastic ischia  (IAGP)
Hypoplastic pelvis  (IAGP)
Hypoplastic pubic bone  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Increased vertebral height  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint dislocation  (IAGP)
Joint hypermobility  (IAGP)
Knee dislocation  (IAGP)
Kyphosis  (IAGP)
Long philtrum  (IAGP)
Lumbar hyperlordosis  (IAGP)
Malar flattening  (IAGP)
Mandibular prognathia  (IAGP)
Metaphyseal widening  (IAGP)
Metatarsus adductus  (IAGP)
Microcephaly  (IAGP)
Micromelia  (IAGP)
Midface retrusion  (IAGP)
Monkey wrench femoral neck  (IAGP)
Narrow chest  (IAGP)
Neonatal respiratory distress  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Pes planus  (IAGP)
Platyspondyly  (IAGP)
Pointed chin  (IAGP)
Postnatal growth retardation  (IAGP)
Prominent lesser trochanter  (IAGP)
Proptosis  (IAGP)
Protruding ear  (IAGP)
Radial head subluxation  (IAGP)
Relative macrocephaly  (IAGP)
Rocker bottom foot  (IAGP)
Round face  (IAGP)
Scapular winging  (IAGP)
Scoliosis  (IAGP)
Severe short stature  (IAGP)
Short 5th finger  (IAGP)
Short clavicles  (IAGP)
Short long bone  (IAGP)
Short metacarpal  (IAGP)
Short neck  (IAGP)
Short phalanx of finger  (IAGP)
Short ribs  (IAGP)
Short stature  (IAGP)
Short thorax  (IAGP)
Single transverse palmar crease  (IAGP)
Slender long bone  (IAGP)
Small for gestational age  (IAGP)
Spina bifida occulta  (IAGP)
Synophrys  (IAGP)
Thick eyebrow  (IAGP)
Thick lower lip vermilion  (IAGP)
Thin ribs  (IAGP)
Toe clinodactyly  (IAGP)
Triangular face  (IAGP)
Truncal obesity  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. CUL7: A DOC domain-containing cullin selectively binds Skp1.Fbx29 to form an SCF-like complex. Dias DC, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16601-6. Epub 2002 Dec 12.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Identification of mutations in CUL7 in 3-M syndrome. Huber C, etal., Nat Genet. 2005 Oct;37(10):1119-24. Epub 2005 Sep 4.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. Nedd8 on cullin: building an expressway to protein destruction. Pan ZQ, etal., Oncogene. 2004 Mar 15;23(11):1985-97.
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7584044   PMID:10531037   PMID:12421765   PMID:12477932   PMID:12904573   PMID:14574404   PMID:15489334   PMID:15964813   PMID:16344560   PMID:16547496   PMID:16875676   PMID:17205132  
PMID:17229476   PMID:17298945   PMID:17332328   PMID:17474147   PMID:17586686   PMID:17675530   PMID:17942889   PMID:17998335   PMID:18029348   PMID:18498745   PMID:19225462   PMID:20005570  
PMID:20139075   PMID:20301654   PMID:21119685   PMID:21135578   PMID:21396581   PMID:21572988   PMID:21737058   PMID:21778237   PMID:21873635   PMID:21946088   PMID:22032989   PMID:22156540  
PMID:22199357   PMID:22524683   PMID:22586326   PMID:22653443   PMID:22939629   PMID:22942238   PMID:23018678   PMID:23029530   PMID:23045529   PMID:23383273   PMID:23443559   PMID:23455922  
PMID:23517720   PMID:23602568   PMID:23667531   PMID:24255178   PMID:24362026   PMID:24711643   PMID:24793695   PMID:24793696   PMID:25003318   PMID:25499913   PMID:25609649   PMID:25706399  
PMID:25752541   PMID:26186194   PMID:26488604   PMID:26514267   PMID:26850509   PMID:26962950   PMID:27705803   PMID:27880917   PMID:28514442   PMID:28739496   PMID:29207184   PMID:29207970  
PMID:29269414   PMID:29393450   PMID:29507117   PMID:29632206   PMID:30349055   PMID:30585266   PMID:30807646   PMID:30945686   PMID:30980518   PMID:31091453   PMID:31152661   PMID:31343991  
PMID:31570706   PMID:31753913   PMID:31871319   PMID:31898234   PMID:31980649   PMID:32141654   PMID:32252802   PMID:32278698   PMID:32877691   PMID:33187986   PMID:33258289   PMID:33504946  
PMID:33705438   PMID:33711283   PMID:33853758   PMID:33961781   PMID:34091597   PMID:34478796   PMID:34591612   PMID:34591642   PMID:34597859   PMID:35013218   PMID:35140242   PMID:35271311  
PMID:35384245   PMID:35563538   PMID:35671810   PMID:35831314   PMID:35915203   PMID:35944360   PMID:35982156   PMID:36215168   PMID:36304472   PMID:36717938   PMID:36736316   PMID:38056462  
PMID:38270169   PMID:38580884   PMID:40025722   PMID:40355756  


Genomics

Comparative Map Data
CUL7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38643,037,617 - 43,053,851 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl643,037,617 - 43,053,943 (-)Ensemblhg38GRCh38
GRCh37643,005,355 - 43,021,589 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36643,113,333 - 43,129,632 (-)NCBIBuild 36Build 36hg18NCBI36
Build 34643,113,333 - 43,129,632NCBI
Celera644,557,598 - 44,573,926 (-)NCBICelera
Cytogenetic Map6p21.1NCBI
HuRef642,722,458 - 42,738,676 (-)NCBIHuRef
CHM1_1643,007,804 - 43,024,128 (-)NCBICHM1_1
T2T-CHM13v2.0642,866,701 - 42,882,922 (-)NCBIT2T-CHM13v2.0
Cul7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391746,961,264 - 46,975,290 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1746,961,263 - 46,975,290 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm381746,650,338 - 46,664,364 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1746,650,337 - 46,664,364 (+)Ensemblmm10GRCm38
MGSCv371746,787,287 - 46,801,313 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361746,113,529 - 46,127,555 (+)NCBIMGSCv36mm8
Celera1750,086,221 - 50,100,235 (+)NCBICelera
Cytogenetic Map17CNCBI
cM Map1722.9NCBI
Cul7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8921,816,703 - 21,830,344 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl921,816,703 - 21,830,344 (-)EnsemblGRCr8
mRatBN7.2914,319,102 - 14,333,035 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl914,319,108 - 14,332,741 (-)EnsemblmRatBN7.2
Rnor_6.0916,629,491 - 16,643,527 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl916,629,401 - 16,643,182 (-)Ensemblrn6Rnor6.0
Rnor_5.0915,536,106 - 15,549,905 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4910,020,543 - 10,034,167 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera912,066,970 - 12,080,701 (-)NCBICelera
Cytogenetic Map9q12NCBI
Cul7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554379,003,533 - 9,017,281 (-)Ensembl
ChiLan1.0NW_0049554379,003,482 - 9,018,260 (-)NCBIChiLan1.0ChiLan1.0
CUL7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2557,537,771 - 57,554,113 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1653,408,020 - 53,424,370 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0642,629,158 - 42,646,279 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1643,924,337 - 43,941,185 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl643,924,408 - 43,942,768 (-)EnsemblpanPan2panpan1.1
CUL7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11211,559,637 - 11,574,320 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1211,559,667 - 11,575,023 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1211,586,654 - 11,601,312 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01212,041,004 - 12,055,659 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1212,041,006 - 12,055,810 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11211,569,636 - 11,584,293 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01211,653,702 - 11,668,357 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01211,747,764 - 11,762,421 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Cul7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494647,058,670 - 47,073,781 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647616,887,610 - 16,901,458 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_00493647616,886,416 - 16,901,532 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CUL7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl738,097,854 - 38,115,822 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1738,097,848 - 38,116,041 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2743,546,218 - 43,559,813 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CUL7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11729,106,413 - 29,124,408 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1729,105,004 - 29,123,565 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366604443,099,333 - 43,116,525 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cul7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475416,459,134 - 16,472,675 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462475416,454,304 - 16,472,721 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
Cul7
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v1483,199,660 - 83,213,559 (-)NCBIRrattus_CSIRO_v1

Variants

.
Variants in CUL7
858 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014780.5(CUL7):c.4476del (p.Leu1493fs) deletion not provided [RCV000520801] Chr6:43038657 [GRCh38]
Chr6:43006395 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.4333C>T (p.Arg1445Ter) single nucleotide variant 3M syndrome 1 [RCV000001680]|not provided [RCV000579106] Chr6:43038949 [GRCh38]
Chr6:43006687 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.4391A>C (p.His1464Pro) single nucleotide variant 3-M syndrome [RCV002281688]|3M syndrome 1 [RCV000001681]|not provided [RCV004719608] Chr6:43038891 [GRCh38]
Chr6:43006629 [GRCh37]
Chr6:6p21.1		 pathogenic|likely pathogenic
NM_014780.5(CUL7):c.4451_4452del (p.Val1484fs) microsatellite 3M syndrome 1 [RCV000001682]|CUL7-related disorder [RCV003390632] Chr6:43038681..43038682 [GRCh38]
Chr6:43006419..43006420 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.4581dup (p.Arg1528fs) duplication Yakut short stature syndrome [RCV000001683] Chr6:43038458..43038459 [GRCh38]
Chr6:43006196..43006197 [GRCh37]
Chr6:6p21.1		 pathogenic
CUL7, 2-BP DEL, 4449GT deletion Three M syndrome 1 [RCV000001684] Chr6:6p21.1 pathogenic
NM_014780.5(CUL7):c.3379_3380del (p.Trp1127fs) deletion 3M syndrome 1 [RCV000001685]|not provided [RCV001588795] Chr6:43043156..43043157 [GRCh38]
Chr6:43010894..43010895 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.1570-3C>A single nucleotide variant 3M syndrome 1 [RCV000001686] Chr6:43049665 [GRCh38]
Chr6:43017403 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.1782G>A (p.Ala594=) single nucleotide variant CUL7-related disorder [RCV003928215]|not provided [RCV000727889] Chr6:43049450 [GRCh38]
Chr6:43017188 [GRCh37]
Chr6:6p21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.618A>G (p.Gln206=) single nucleotide variant not provided [RCV000728247] Chr6:43051726 [GRCh38]
Chr6:43019464 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3769G>A (p.Gly1257Ser) single nucleotide variant Inborn genetic diseases [RCV004026944]|not provided [RCV000728397] Chr6:43040952 [GRCh38]
Chr6:43008690 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2647G>A (p.Gly883Ser) single nucleotide variant not provided [RCV000728674] Chr6:43046249 [GRCh38]
Chr6:43013987 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2130_2131delinsTGCCTG (p.Cys711fs) indel 3-M syndrome [RCV004767325]|3M syndrome 1 [RCV005044773]|not provided [RCV000519666] Chr6:43048186..43048187 [GRCh38]
Chr6:43015924..43015925 [GRCh37]
Chr6:6p21.1		 pathogenic|likely pathogenic
GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1 copy number loss See cases [RCV000051011] Chr6:42368558..44590544 [GRCh38]
Chr6:42336296..44558281 [GRCh37]
Chr6:42444274..44666259 [NCBI36]
Chr6:6p21.1		 pathogenic
GRCh38/hg38 6p21.1(chr6:42133625-44106194)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051899]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051899]|See cases [RCV000051899] Chr6:42133625..44106194 [GRCh38]
Chr6:42101363..44073931 [GRCh37]
Chr6:42209341..44181909 [NCBI36]
Chr6:6p21.1		 pathogenic
GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1 copy number loss See cases [RCV000052181] Chr6:37777369..45653843 [GRCh38]
Chr6:37745145..45621580 [GRCh37]
Chr6:37853123..45729558 [NCBI36]
Chr6:6p21.2-21.1		 pathogenic
GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1 copy number loss See cases [RCV000052182] Chr6:41638061..46512949 [GRCh38]
Chr6:41605799..46480686 [GRCh37]
Chr6:41713777..46588645 [NCBI36]
Chr6:6p21.1-12.3		 pathogenic
NM_014780.5(CUL7):c.2592T>G (p.Tyr864Ter) single nucleotide variant 3M syndrome 1 [RCV000115042]|not provided [RCV000171523] Chr6:43046304 [GRCh38]
Chr6:43014042 [GRCh37]
Chr6:6p21.1		 pathogenic|likely pathogenic|no classifications from unflagged records
NM_014780.5(CUL7):c.4529G>T (p.Gly1510Val) single nucleotide variant not provided [RCV000171397] Chr6:43038604 [GRCh38]
Chr6:43006342 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.2416G>A (p.Glu806Lys) single nucleotide variant 3M syndrome 1 [RCV001160388]|not provided [RCV000171398] Chr6:43046583 [GRCh38]
Chr6:43014321 [GRCh37]
Chr6:6p21.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) single nucleotide variant 3-M syndrome [RCV002509281]|3M syndrome 1 [RCV000755718]|Inborn genetic diseases [RCV000210570]|not provided [RCV000480559] Chr6:43044883 [GRCh38]
Chr6:43012621 [GRCh37]
Chr6:6p21.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.3490C>T (p.Arg1164Trp) single nucleotide variant 3M syndrome 1 [RCV000310009]|not provided [RCV000514995]|not specified [RCV000175461] Chr6:43042957 [GRCh38]
Chr6:43010695 [GRCh37]
Chr6:6p21.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.263del (p.Val88fs) deletion 3M syndrome 1 [RCV004798796]|not provided [RCV000171524] Chr6:43052526 [GRCh38]
Chr6:43020264 [GRCh37]
Chr6:6p21.1		 pathogenic|likely pathogenic
NM_014780.5(CUL7):c.4717C>T (p.Arg1573Ter) single nucleotide variant 3M syndrome 1 [RCV005230039]|Inborn genetic diseases [RCV000210557]|not provided [RCV000176574] Chr6:43038323 [GRCh38]
Chr6:43006061 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.4762C>A (p.Leu1588Ile) single nucleotide variant 3M syndrome 1 [RCV000286841]|not provided [RCV000514502]|not specified [RCV000176575] Chr6:43038278 [GRCh38]
Chr6:43006016 [GRCh37]
Chr6:6p21.1		 benign|likely benign|uncertain significance
NM_014780.5(CUL7):c.465A>T (p.Gly155=) single nucleotide variant 3M syndrome 1 [RCV000354361]|not provided [RCV000953795]|not specified [RCV000175862] Chr6:43052324 [GRCh38]
Chr6:43020062 [GRCh37]
Chr6:6p21.1		 benign|uncertain significance
NM_014780.5(CUL7):c.533G>T (p.Arg178Leu) single nucleotide variant 3M syndrome 1 [RCV000304448]|not provided [RCV000894602]|not specified [RCV000175865] Chr6:43052256 [GRCh38]
Chr6:43019994 [GRCh37]
Chr6:6p21.1		 likely benign|uncertain significance
NM_014780.5(CUL7):c.1542G>T (p.Gln514His) single nucleotide variant 3M syndrome 1 [RCV000332233]|not provided [RCV000895650]|not specified [RCV000179483] Chr6:43049990 [GRCh38]
Chr6:43017728 [GRCh37]
Chr6:6p21.1		 benign|likely benign|uncertain significance
NM_014780.5(CUL7):c.898_919del (p.Met300fs) deletion not provided [RCV000178294] Chr6:43051282..43051303 [GRCh38]
Chr6:43019020..43019041 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.1030G>A (p.Ala344Thr) single nucleotide variant 3M syndrome 1 [RCV000288139]|not provided [RCV000895651]|not specified [RCV000178296] Chr6:43051171 [GRCh38]
Chr6:43018909 [GRCh37]
Chr6:6p21.1		 benign|likely benign|uncertain significance
NM_014780.5(CUL7):c.2497G>A (p.Val833Met) single nucleotide variant not provided [RCV001348356] Chr6:43046399 [GRCh38]
Chr6:43014137 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2943_2944del (p.Cys982fs) microsatellite 3-M syndrome [RCV000487737] Chr6:43045321..43045322 [GRCh38]
Chr6:43013059..43013060 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.2318G>A (p.Arg773Gln) single nucleotide variant Inborn genetic diseases [RCV003258678]|not provided [RCV000173864] Chr6:43046959 [GRCh38]
Chr6:43014697 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2563A>G (p.Lys855Glu) single nucleotide variant 3M syndrome 1 [RCV000400507]|Short stature [RCV001270065]|not provided [RCV000174372]|not specified [RCV003987422] Chr6:43046333 [GRCh38]
Chr6:43014071 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2885G>A (p.Arg962Gln) single nucleotide variant 3M syndrome 1 [RCV001163965]|not provided [RCV000174925] Chr6:43045380 [GRCh38]
Chr6:43013118 [GRCh37]
Chr6:6p21.1		 uncertain significance
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
NM_014780.5(CUL7):c.3173-1G>C single nucleotide variant 3M syndrome 1 [RCV000202615] Chr6:43043631 [GRCh38]
Chr6:43011369 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.79C>T (p.Arg27Cys) single nucleotide variant not provided [RCV000175861] Chr6:43052710 [GRCh38]
Chr6:43020448 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.136C>T (p.Arg46Trp) single nucleotide variant 3M syndrome 1 [RCV001164150]|not provided [RCV000175863] Chr6:43052653 [GRCh38]
Chr6:43020391 [GRCh37]
Chr6:6p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.25G>C (p.Glu9Gln) single nucleotide variant not provided [RCV000175864]|not specified [RCV003488426] Chr6:43052764 [GRCh38]
Chr6:43020502 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4258G>A (p.Gly1420Ser) single nucleotide variant not provided [RCV000176317] Chr6:43040192 [GRCh38]
Chr6:43007930 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.935G>A (p.Arg312His) single nucleotide variant Inborn genetic diseases [RCV002517726]|not provided [RCV000178295] Chr6:43051266 [GRCh38]
Chr6:43019004 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1005G>A (p.Leu335=) single nucleotide variant 3M syndrome 1 [RCV001160496]|not provided [RCV000178297] Chr6:43051196 [GRCh38]
Chr6:43018934 [GRCh37]
Chr6:6p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.4713C>T (p.Ile1571=) single nucleotide variant not provided [RCV000176573] Chr6:43038327 [GRCh38]
Chr6:43006065 [GRCh37]
Chr6:6p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.4898C>T (p.Thr1633Met) single nucleotide variant 3M syndrome 1 [RCV000272797]|not provided [RCV000964285]|not specified [RCV000309429] Chr6:43037887 [GRCh38]
Chr6:43005625 [GRCh37]
Chr6:6p21.1		 benign|likely benign
NM_014780.5(CUL7):c.4318C>T (p.Arg1440Ter) single nucleotide variant 3-M syndrome [RCV003987494]|3M syndrome 1 [RCV003988842]|not provided [RCV000376423] Chr6:43038964 [GRCh38]
Chr6:43006702 [GRCh37]
Chr6:6p21.1		 pathogenic|likely pathogenic
NM_014780.5(CUL7):c.1859C>T (p.Pro620Leu) single nucleotide variant CUL7-related disorder [RCV003927944]|Inborn genetic diseases [RCV003160060]|not provided [RCV000595789] Chr6:43048536 [GRCh38]
Chr6:43016274 [GRCh37]
Chr6:6p21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.5072C>T (p.Thr1691Ile) single nucleotide variant 3M syndrome 1 [RCV000274028]|not provided [RCV001861279] Chr6:43037713 [GRCh38]
Chr6:43005451 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1590A>C (p.Leu530=) single nucleotide variant 3M syndrome 1 [RCV000260621]|not provided [RCV003765534]|not specified [RCV000251194] Chr6:43049642 [GRCh38]
Chr6:43017380 [GRCh37]
Chr6:6p21.1		 likely benign|uncertain significance
NM_014780.5(CUL7):c.2438_2439delinsGG (p.Gln813Arg) indel 3M syndrome 1 [RCV003238750]|not provided [RCV001519941]|not specified [RCV000253759] Chr6:43046560..43046561 [GRCh38]
Chr6:43014298..43014299 [GRCh37]
Chr6:6p21.1		 benign|uncertain significance
NM_014780.5(CUL7):c.3432G>A (p.Thr1144=) single nucleotide variant 3M syndrome 1 [RCV000270729]|not provided [RCV000725383]|not specified [RCV000246838] Chr6:43043104 [GRCh38]
Chr6:43010842 [GRCh37]
Chr6:6p21.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.3993G>A (p.Leu1331=) single nucleotide variant 3M syndrome 1 [RCV000368143]|not provided [RCV001518272]|not specified [RCV000242141] Chr6:43040560 [GRCh38]
Chr6:43008298 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.861G>A (p.Gly287=) single nucleotide variant 3M syndrome 1 [RCV000398520]|not provided [RCV000898634]|not specified [RCV000247159] Chr6:43051340 [GRCh38]
Chr6:43019078 [GRCh37]
Chr6:6p21.1		 benign|likely benign|uncertain significance
NM_014780.5(CUL7):c.339C>T (p.Asp113=) single nucleotide variant 3M syndrome 1 [RCV000300864]|not provided [RCV001522327]|not specified [RCV000242712] Chr6:43052450 [GRCh38]
Chr6:43020188 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.3876C>T (p.Ile1292=) single nucleotide variant 3M syndrome 1 [RCV000271146]|not provided [RCV000913557]|not specified [RCV000250177] Chr6:43040677 [GRCh38]
Chr6:43008415 [GRCh37]
Chr6:6p21.1		 benign|likely benign|uncertain significance
NM_014780.5(CUL7):c.2438A>G (p.Gln813Arg) single nucleotide variant 3M syndrome 1 [RCV000407177]|not provided [RCV001668532]|not specified [RCV000245796] Chr6:43046561 [GRCh38]
Chr6:43014299 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.2439A>G (p.Gln813=) single nucleotide variant 3M syndrome 1 [RCV000346815]|not provided [RCV001610688]|not specified [RCV000250730] Chr6:43046560 [GRCh38]
Chr6:43014298 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.1215C>T (p.Asn405=) single nucleotide variant 3M syndrome 1 [RCV000332665]|not provided [RCV000974211] Chr6:43050986 [GRCh38]
Chr6:43018724 [GRCh37]
Chr6:6p21.1		 benign|uncertain significance
NM_014780.5(CUL7):c.841G>A (p.Ala281Thr) single nucleotide variant 3M syndrome 1 [RCV000284391] Chr6:43051360 [GRCh38]
Chr6:43019098 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.-168C>T single nucleotide variant 3M syndrome 1 [RCV000370251] Chr6:43053781 [GRCh38]
Chr6:43021519 [GRCh37]
Chr6:6p21.1		 benign|likely benign
NM_014780.5(CUL7):c.*57A>G single nucleotide variant 3M syndrome 1 [RCV000370642]|not provided [RCV004695944] Chr6:43037631 [GRCh38]
Chr6:43005369 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1027C>T (p.Pro343Ser) single nucleotide variant 3M syndrome 1 [RCV000347674]|not provided [RCV000513793] Chr6:43051174 [GRCh38]
Chr6:43018912 [GRCh37]
Chr6:6p21.1		 benign|likely benign
NM_014780.5(CUL7):c.2115C>T (p.His705=) single nucleotide variant 3M syndrome 1 [RCV000301545]|CUL7-related disorder [RCV003957838]|not provided [RCV000730811]|not specified [RCV003993940] Chr6:43048202 [GRCh38]
Chr6:43015940 [GRCh37]
Chr6:6p21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.2803C>T (p.Leu935=) single nucleotide variant 3M syndrome 1 [RCV000374402]|not provided [RCV001515499] Chr6:43045646 [GRCh38]
Chr6:43013384 [GRCh37]
Chr6:6p21.1		 benign|uncertain significance
NM_014780.5(CUL7):c.3332C>T (p.Pro1111Leu) single nucleotide variant 3M syndrome 1 [RCV000380461]|Inborn genetic diseases [RCV004975479] Chr6:43043471 [GRCh38]
Chr6:43011209 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.4(CUL7):c.-269A>G single nucleotide variant 3M syndrome 1 [RCV000326259] Chr6:43053882 [GRCh38]
Chr6:43021620 [GRCh37]
Chr6:6p21.1		 benign|uncertain significance
NM_014780.5(CUL7):c.4463T>C (p.Leu1488Pro) single nucleotide variant 3M syndrome 1 [RCV000338154]|CUL7-related disorder [RCV003902388]|not provided [RCV000954663] Chr6:43038670 [GRCh38]
Chr6:43006408 [GRCh37]
Chr6:6p21.1		 benign|uncertain significance
NM_014780.5(CUL7):c.4323C>T (p.Gly1441=) single nucleotide variant 3M syndrome 1 [RCV000350656]|not provided [RCV000885155] Chr6:43038959 [GRCh38]
Chr6:43006697 [GRCh37]
Chr6:6p21.1		 benign|uncertain significance
NM_014780.5(CUL7):c.1202G>A (p.Arg401Gln) single nucleotide variant 3M syndrome 1 [RCV000382542]|not provided [RCV000514042] Chr6:43050999 [GRCh38]
Chr6:43018737 [GRCh37]
Chr6:6p21.1		 benign|likely benign
NM_014780.5(CUL7):c.4935C>T (p.Ser1645=) single nucleotide variant 3M syndrome 1 [RCV000383631]|not provided [RCV000960885] Chr6:43037850 [GRCh38]
Chr6:43005588 [GRCh37]
Chr6:6p21.1		 benign|likely benign|uncertain significance
NM_014780.5(CUL7):c.88G>A (p.Val30Met) single nucleotide variant 3M syndrome 1 [RCV000329703] Chr6:43052701 [GRCh38]
Chr6:43020439 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2603A>G (p.Asn868Ser) single nucleotide variant 3M syndrome 1 [RCV000352864]|CUL7-related disorder [RCV003950269]|not provided [RCV002524482]|not specified [RCV000595535] Chr6:43046293 [GRCh38]
Chr6:43014031 [GRCh37]
Chr6:6p21.1		 benign|likely benign|uncertain significance
NM_014780.5(CUL7):c.1664C>T (p.Ala555Val) single nucleotide variant 3M syndrome 1 [RCV000353153] Chr6:43049568 [GRCh38]
Chr6:43017306 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4794G>A (p.Lys1598=) single nucleotide variant 3M syndrome 1 [RCV000378932]|not provided [RCV000958854] Chr6:43037991 [GRCh38]
Chr6:43005729 [GRCh37]
Chr6:6p21.1		 benign|likely benign
NM_014780.5(CUL7):c.2146C>T (p.Arg716Trp) single nucleotide variant 3M syndrome 1 [RCV000407164]|not provided [RCV001300734] Chr6:43048171 [GRCh38]
Chr6:43015909 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.587G>A (p.Arg196Gln) single nucleotide variant 3M syndrome 1 [RCV000407926] Chr6:43051757 [GRCh38]
Chr6:43019495 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.4(CUL7):c.-298C>G single nucleotide variant 3M syndrome 1 [RCV000291192] Chr6:43053911 [GRCh38]
Chr6:43021649 [GRCh37]
Chr6:6p21.1		 likely benign|uncertain significance
NM_014780.4(CUL7):c.-272C>T single nucleotide variant 3M syndrome 1 [RCV000380852] Chr6:43053885 [GRCh38]
Chr6:43021623 [GRCh37]
Chr6:6p21.1		 likely benign|uncertain significance
NM_014780.5(CUL7):c.249C>T (p.Gly83=) single nucleotide variant 3M syndrome 1 [RCV000355639] Chr6:43052540 [GRCh38]
Chr6:43020278 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2287C>A (p.Leu763Met) single nucleotide variant 3M syndrome 1 [RCV000307276] Chr6:43046990 [GRCh38]
Chr6:43014728 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3416T>C (p.Ile1139Thr) single nucleotide variant 3M syndrome 1 [RCV000323508]|not provided [RCV000899777] Chr6:43043120 [GRCh38]
Chr6:43010858 [GRCh37]
Chr6:6p21.1		 benign|uncertain significance
NM_014780.5(CUL7):c.2767-14C>T single nucleotide variant 3M syndrome 1 [RCV000334910]|not provided [RCV002524481] Chr6:43045696 [GRCh38]
Chr6:43013434 [GRCh37]
Chr6:6p21.1		 likely benign|uncertain significance
NM_014780.5(CUL7):c.1780G>A (p.Ala594Thr) single nucleotide variant 3M syndrome 1 [RCV000261740]|not provided [RCV000971886] Chr6:43049452 [GRCh38]
Chr6:43017190 [GRCh37]
Chr6:6p21.1		 benign|uncertain significance
NM_014780.5(CUL7):c.1846A>G (p.Ser616Gly) single nucleotide variant 3M syndrome 1 [RCV000358713]|not provided [RCV000514627] Chr6:43048549 [GRCh38]
Chr6:43016287 [GRCh37]
Chr6:6p21.1		 benign|likely benign
NM_014780.5(CUL7):c.2555G>A (p.Arg852Gln) single nucleotide variant 3M syndrome 1 [RCV000294182]|not provided [RCV000958855] Chr6:43046341 [GRCh38]
Chr6:43014079 [GRCh37]
Chr6:6p21.1		 benign|likely benign
NM_014780.5(CUL7):c.4876C>G (p.Leu1626Val) single nucleotide variant 3M syndrome 1 [RCV000326602]|not provided [RCV000514630] Chr6:43037909 [GRCh38]
Chr6:43005647 [GRCh37]
Chr6:6p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.2693C>G (p.Ser898Trp) single nucleotide variant 3M syndrome 1 [RCV000295551]|not provided [RCV001850904]|not specified [RCV003987520] Chr6:43046059 [GRCh38]
Chr6:43013797 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.*71A>G single nucleotide variant 3M syndrome 1 [RCV000313601] Chr6:43037617 [GRCh38]
Chr6:43005355 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.4(CUL7):c.-300G>C single nucleotide variant 3M syndrome 1 [RCV000327528] Chr6:43053913 [GRCh38]
Chr6:43021651 [GRCh37]
Chr6:6p21.1		 benign|uncertain significance
NM_014780.5(CUL7):c.733-12T>G single nucleotide variant 3M syndrome 1 [RCV000339386] Chr6:43051480 [GRCh38]
Chr6:43019218 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3463-10T>C single nucleotide variant 3M syndrome 1 [RCV000362342]|not provided [RCV000885156] Chr6:43042994 [GRCh38]
Chr6:43010732 [GRCh37]
Chr6:6p21.1		 likely benign|uncertain significance
NM_014780.5(CUL7):c.4131T>C (p.Asn1377=) single nucleotide variant 3M syndrome 1 [RCV000310951]|not provided [RCV003708527] Chr6:43040319 [GRCh38]
Chr6:43008057 [GRCh37]
Chr6:6p21.1		 likely benign|uncertain significance
NM_014780.5(CUL7):c.3096C>T (p.Asp1032=) single nucleotide variant 3M syndrome 1 [RCV000264677]|not provided [RCV000972754] Chr6:43044828 [GRCh38]
Chr6:43012566 [GRCh37]
Chr6:6p21.1		 benign|likely benign
NM_014780.5(CUL7):c.4625G>A (p.Arg1542Gln) single nucleotide variant 3-M syndrome [RCV000280737]|Inborn genetic diseases [RCV002524480]|not provided [RCV000733439]|not specified [RCV003488570] Chr6:43038415 [GRCh38]
Chr6:43006153 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4346C>T (p.Thr1449Met) single nucleotide variant 3M syndrome 1 [RCV000298135]|not provided [RCV001295227] Chr6:43038936 [GRCh38]
Chr6:43006674 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4690C>T (p.Arg1564Trp) single nucleotide variant 3M syndrome 1 [RCV000339454]|not provided [RCV001850903] Chr6:43038350 [GRCh38]
Chr6:43006088 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2789G>A (p.Ser930Asn) single nucleotide variant 3M syndrome 1 [RCV000282176]|not provided [RCV001814150] Chr6:43045660 [GRCh38]
Chr6:43013398 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4443G>A (p.Ala1481=) single nucleotide variant 3M syndrome 1 [RCV000391301]|not provided [RCV002058612]|not specified [RCV004701445] Chr6:43038690 [GRCh38]
Chr6:43006428 [GRCh37]
Chr6:6p21.1		 likely benign|uncertain significance
NM_014780.5(CUL7):c.4295-14C>A single nucleotide variant 3M syndrome 1 [RCV000391293]|not provided [RCV002058613] Chr6:43039001 [GRCh38]
Chr6:43006739 [GRCh37]
Chr6:6p21.1		 benign|uncertain significance
NM_014780.5(CUL7):c.5041C>T (p.Arg1681Trp) single nucleotide variant 3M syndrome 1 [RCV000331430]|not provided [RCV001861280] Chr6:43037744 [GRCh38]
Chr6:43005482 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1716C>G (p.Ala572=) single nucleotide variant 3M syndrome 1 [RCV000319212]|not provided [RCV000888794] Chr6:43049516 [GRCh38]
Chr6:43017254 [GRCh37]
Chr6:6p21.1		 benign|uncertain significance
NM_014780.5(CUL7):c.2586G>T (p.Lys862Asn) single nucleotide variant 3M syndrome 1 [RCV001159046]|not provided [RCV000303823] Chr6:43046310 [GRCh38]
Chr6:43014048 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2472C>T (p.Leu824=) single nucleotide variant not provided [RCV000337815] Chr6:43046527 [GRCh38]
Chr6:43014265 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1073G>A (p.Arg358His) single nucleotide variant not provided [RCV000372753] Chr6:43051128 [GRCh38]
Chr6:43018866 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2644C>T (p.Arg882Trp) single nucleotide variant Inborn genetic diseases [RCV004609345]|not provided [RCV000305787] Chr6:43046252 [GRCh38]
Chr6:43013990 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3834C>T (p.Gly1278=) single nucleotide variant not provided [RCV000307122] Chr6:43040719 [GRCh38]
Chr6:43008457 [GRCh37]
Chr6:6p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.5088C>T (p.Thr1696=) single nucleotide variant 3M syndrome 1 [RCV001160195]|not provided [RCV000958853]|not specified [RCV000312045] Chr6:43037697 [GRCh38]
Chr6:43005435 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.981C>T (p.Pro327=) single nucleotide variant not provided [RCV000312065] Chr6:43051220 [GRCh38]
Chr6:43018958 [GRCh37]
Chr6:6p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.4068A>G (p.Glu1356=) single nucleotide variant not provided [RCV000380371] Chr6:43040382 [GRCh38]
Chr6:43008120 [GRCh37]
Chr6:6p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.2229C>G (p.Ala743=) single nucleotide variant not provided [RCV000280286] Chr6:43047048 [GRCh38]
Chr6:43014786 [GRCh37]
Chr6:6p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.2767-17_2767-13dup duplication not provided [RCV000348552] Chr6:43045694..43045695 [GRCh38]
Chr6:43013432..43013433 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2688G>A (p.Glu896=) single nucleotide variant not provided [RCV000351407] Chr6:43046064 [GRCh38]
Chr6:43013802 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2614G>A (p.Gly872Ser) single nucleotide variant 3M syndrome 1 [RCV000764650]|CUL7-related disorder [RCV003909930]|not provided [RCV000388367]|not specified [RCV004526653] Chr6:43046282 [GRCh38]
Chr6:43014020 [GRCh37]
Chr6:6p21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.161G>T (p.Gly54Val) single nucleotide variant 3M syndrome 1 [RCV000274584] Chr6:43052628 [GRCh38]
Chr6:43020366 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1047C>T (p.Pro349=) single nucleotide variant not provided [RCV000315456] Chr6:43051154 [GRCh38]
Chr6:43018892 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4146T>C (p.Tyr1382=) single nucleotide variant not provided [RCV000387956] Chr6:43040304 [GRCh38]
Chr6:43008042 [GRCh37]
Chr6:6p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.5080T>G (p.Phe1694Val) single nucleotide variant Inborn genetic diseases [RCV002521958]|not provided [RCV000390028] Chr6:43037705 [GRCh38]
Chr6:43005443 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2848A>T (p.Lys950Ter) single nucleotide variant not provided [RCV000350941] Chr6:43045601 [GRCh38]
Chr6:43013339 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.2885G>T (p.Arg962Leu) single nucleotide variant not provided [RCV000285422] Chr6:43045380 [GRCh38]
Chr6:43013118 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.-236G>A single nucleotide variant 3M syndrome 1 [RCV000275756] Chr6:43053849 [GRCh38]
Chr6:43021587 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.785C>T (p.Ser262Leu) single nucleotide variant not provided [RCV000356220] Chr6:43051416 [GRCh38]
Chr6:43019154 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.594G>A (p.Gln198=) single nucleotide variant not provided [RCV000395014] Chr6:43051750 [GRCh38]
Chr6:43019488 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3747G>A (p.Leu1249=) single nucleotide variant 3M syndrome 1 [RCV001160287]|CUL7-related disorder [RCV003930057]|not provided [RCV000290074] Chr6:43040974 [GRCh38]
Chr6:43008712 [GRCh37]
Chr6:6p21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.3695G>A (p.Arg1232Gln) single nucleotide variant 3M syndrome 1 [RCV001160288]|CUL7-related disorder [RCV003967708]|not provided [RCV000885600]|not specified [RCV000395339] Chr6:43041026 [GRCh38]
Chr6:43008764 [GRCh37]
Chr6:6p21.1		 benign|likely benign
NM_014780.5(CUL7):c.2164C>T (p.Arg722Ter) single nucleotide variant 3M syndrome 1 [RCV002503985]|not provided [RCV000385356] Chr6:43048153 [GRCh38]
Chr6:43015891 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.2645G>A (p.Arg882Gln) single nucleotide variant not provided [RCV000401634] Chr6:43046251 [GRCh38]
Chr6:43013989 [GRCh37]
Chr6:6p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.1570-8G>A single nucleotide variant CUL7-related disorder [RCV003957429]|not provided [RCV000364408] Chr6:43049670 [GRCh38]
Chr6:43017408 [GRCh37]
Chr6:6p21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.4482C>T (p.Ser1494=) single nucleotide variant not provided [RCV000366802] Chr6:43038651 [GRCh38]
Chr6:43006389 [GRCh37]
Chr6:6p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.2787del (p.Ser930fs) deletion not provided [RCV000266610] Chr6:43045662 [GRCh38]
Chr6:43013400 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.3861C>T (p.Ala1287=) single nucleotide variant not provided [RCV000300301] Chr6:43040692 [GRCh38]
Chr6:43008430 [GRCh37]
Chr6:6p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.3273G>A (p.Ser1091=) single nucleotide variant not provided [RCV000335036] Chr6:43043530 [GRCh38]
Chr6:43011268 [GRCh37]
Chr6:6p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.4659G>A (p.Glu1553=) single nucleotide variant 3M syndrome 1 [RCV001163875]|CUL7-related disorder [RCV003910041]|not provided [RCV000369713] Chr6:43038381 [GRCh38]
Chr6:43006119 [GRCh37]
Chr6:6p21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.2761_2765del (p.Asn921fs) microsatellite 3M syndrome 1 [RCV002283776] Chr6:43045987..43045991 [GRCh38]
Chr6:43013725..43013729 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.2862+1G>A single nucleotide variant 3M syndrome 1 [RCV002283875] Chr6:43045586 [GRCh38]
Chr6:43013324 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.934C>T (p.Arg312Cys) single nucleotide variant not provided [RCV000597034] Chr6:43051267 [GRCh38]
Chr6:43019005 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1067G>A (p.Arg356His) single nucleotide variant CUL7-related disorder [RCV003945447]|Inborn genetic diseases [RCV003160059]|not provided [RCV000596789] Chr6:43051134 [GRCh38]
Chr6:43018872 [GRCh37]
Chr6:6p21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.3847T>C (p.Trp1283Arg) single nucleotide variant 3M syndrome 1 [RCV003314263]|Inborn genetic diseases [RCV004978818] Chr6:43040706 [GRCh38]
Chr6:43008444 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1513G>A (p.Asp505Asn) single nucleotide variant 3M syndrome 1 [RCV000389161] Chr6:43050019 [GRCh38]
Chr6:43017757 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.384T>C (p.Cys128=) single nucleotide variant 3M syndrome 1 [RCV000407929] Chr6:43052405 [GRCh38]
Chr6:43020143 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1265G>T (p.Trp422Leu) single nucleotide variant 3-M syndrome [RCV000296430]|not provided [RCV003422347] Chr6:43050367 [GRCh38]
Chr6:43018105 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3027C>T (p.His1009=) single nucleotide variant 3M syndrome 1 [RCV000322142] Chr6:43045238 [GRCh38]
Chr6:43012976 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2720T>C (p.Val907Ala) single nucleotide variant 3-M syndrome [RCV000373688] Chr6:43046032 [GRCh38]
Chr6:43013770 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2169+5C>T single nucleotide variant 3M syndrome 1 [RCV000359938] Chr6:43048143 [GRCh38]
Chr6:43015881 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4683G>A (p.Glu1561=) single nucleotide variant 3M syndrome 1 [RCV000377546] Chr6:43038357 [GRCh38]
Chr6:43006095 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2802C>A (p.Leu934=) single nucleotide variant not provided [RCV000598348] Chr6:43045647 [GRCh38]
Chr6:43013385 [GRCh37]
Chr6:6p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.2384G>A (p.Gly795Glu) single nucleotide variant not provided [RCV000592212] Chr6:43046893 [GRCh38]
Chr6:43014631 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2901A>G (p.Leu967=) single nucleotide variant not provided [RCV000592716] Chr6:43045364 [GRCh38]
Chr6:43013102 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2559del (p.Ser854fs) deletion not provided [RCV000592771] Chr6:43046337 [GRCh38]
Chr6:43014075 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.1686C>T (p.Cys562=) single nucleotide variant not provided [RCV000592836] Chr6:43049546 [GRCh38]
Chr6:43017284 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.314C>T (p.Ser105Phe) single nucleotide variant Inborn genetic diseases [RCV004609444]|not provided [RCV000593321] Chr6:43052475 [GRCh38]
Chr6:43020213 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4003G>C (p.Asp1335His) single nucleotide variant Inborn genetic diseases [RCV004975702]|not provided [RCV000593501] Chr6:43040550 [GRCh38]
Chr6:43008288 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3548G>T (p.Ser1183Ile) single nucleotide variant Inborn genetic diseases [RCV005318444]|not provided [RCV000593667] Chr6:43042899 [GRCh38]
Chr6:43010637 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2753C>T (p.Thr918Met) single nucleotide variant Inborn genetic diseases [RCV005318439]|not provided [RCV000596866] Chr6:43045999 [GRCh38]
Chr6:43013737 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.156C>T (p.Asp52=) single nucleotide variant not provided [RCV000591187] Chr6:43052633 [GRCh38]
Chr6:43020371 [GRCh37]
Chr6:6p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.3610G>A (p.Ala1204Thr) single nucleotide variant not provided [RCV000591387] Chr6:43042837 [GRCh38]
Chr6:43010575 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2710C>T (p.Arg904Ter) single nucleotide variant 3-M syndrome [RCV004800561]|not provided [RCV000730551] Chr6:43046042 [GRCh38]
Chr6:43013780 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.509T>G (p.Leu170Trp) single nucleotide variant 3M syndrome 1 [RCV001162134]|Inborn genetic diseases [RCV003165989]|not provided [RCV000733012] Chr6:43052280 [GRCh38]
Chr6:43020018 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4936T>C (p.Tyr1646His) single nucleotide variant not provided [RCV000728849] Chr6:43037849 [GRCh38]
Chr6:43005587 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2682T>C (p.Ala894=) single nucleotide variant not provided [RCV000728900] Chr6:43046070 [GRCh38]
Chr6:43013808 [GRCh37]
Chr6:6p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.3097G>A (p.Glu1033Lys) single nucleotide variant CUL7-related disorder [RCV004754549]|not provided [RCV000733976] Chr6:43044827 [GRCh38]
Chr6:43012565 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1648C>T (p.Arg550Ter) single nucleotide variant 3M syndrome 1 [RCV001265587]|not provided [RCV000594591] Chr6:43049584 [GRCh38]
Chr6:43017322 [GRCh37]
Chr6:6p21.1		 pathogenic|likely pathogenic
NM_014780.5(CUL7):c.4419G>A (p.Leu1473=) single nucleotide variant not provided [RCV000729041] Chr6:43038863 [GRCh38]
Chr6:43006601 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.139C>T (p.Arg47Cys) single nucleotide variant not provided [RCV000594886] Chr6:43052650 [GRCh38]
Chr6:43020388 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2754G>A (p.Thr918=) single nucleotide variant not provided [RCV000730812]|not specified [RCV003994100] Chr6:43045998 [GRCh38]
Chr6:43013736 [GRCh37]
Chr6:6p21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_014780.5(CUL7):c.3436T>C (p.Cys1146Arg) single nucleotide variant not provided [RCV000484727] Chr6:43043100 [GRCh38]
Chr6:43010838 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.922G>T (p.Val308Leu) single nucleotide variant 3M syndrome 1 [RCV001160497]|not provided [RCV000478605] Chr6:43051279 [GRCh38]
Chr6:43019017 [GRCh37]
Chr6:6p21.1		 likely pathogenic|uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_014780.5(CUL7):c.367C>G (p.Arg123Gly) single nucleotide variant Inborn genetic diseases [RCV003277509] Chr6:43052422 [GRCh38]
Chr6:43020160 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2163T>C (p.Asp721=) single nucleotide variant not provided [RCV000594340] Chr6:43048154 [GRCh38]
Chr6:43015892 [GRCh37]
Chr6:6p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.2112G>A (p.Trp704Ter) single nucleotide variant not provided [RCV000596748] Chr6:43048205 [GRCh38]
Chr6:43015943 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.158G>A (p.Gly53Glu) single nucleotide variant Inborn genetic diseases [RCV003271820] Chr6:43052631 [GRCh38]
Chr6:43020369 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4914C>T (p.Asp1638=) single nucleotide variant not provided [RCV000912859]|not specified [RCV000595517] Chr6:43037871 [GRCh38]
Chr6:43005609 [GRCh37]
Chr6:6p21.1		 benign|likely benign
NM_014780.5(CUL7):c.4120GAG[2] (p.Glu1376del) microsatellite 3M syndrome 1 [RCV000714735]|not provided [RCV001862004] Chr6:43040322..43040324 [GRCh38]
Chr6:43008060..43008062 [GRCh37]
Chr6:6p21.1		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_014780.5(CUL7):c.1234-207GT[26] microsatellite not provided [RCV001612298] Chr6:43050550..43050553 [GRCh38]
Chr6:43018288..43018291 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.4770_4773del (p.Cys1590fs) microsatellite 3M syndrome 1 [RCV001644998] Chr6:43038267..43038270 [GRCh38]
Chr6:43006005..43006008 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.1602C>T (p.Ala534=) single nucleotide variant not provided [RCV000919072] Chr6:43049630 [GRCh38]
Chr6:43017368 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3038+109G>A single nucleotide variant not provided [RCV001680612] Chr6:43045118 [GRCh38]
Chr6:43012856 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.1392G>A (p.Trp464Ter) single nucleotide variant not provided [RCV001597550] Chr6:43050140 [GRCh38]
Chr6:43017878 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.2064-1G>A single nucleotide variant 3M syndrome 1 [RCV001667871] Chr6:43048254 [GRCh38]
Chr6:43015992 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.4406A>G (p.Gln1469Arg) single nucleotide variant 3M syndrome 1 [RCV000761425] Chr6:43038876 [GRCh38]
Chr6:43006614 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2434C>T (p.His812Tyr) single nucleotide variant 3M syndrome 1 [RCV000761426] Chr6:43046565 [GRCh38]
Chr6:43014303 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4440+13C>T single nucleotide variant 3M syndrome 1 [RCV001163879]|not provided [RCV002067993] Chr6:43038829 [GRCh38]
Chr6:43006567 [GRCh37]
Chr6:6p21.1		 likely benign|uncertain significance
NM_014780.5(CUL7):c.3080G>A (p.Arg1027His) single nucleotide variant 3M syndrome 1 [RCV001163964]|not provided [RCV002558582] Chr6:43044844 [GRCh38]
Chr6:43012582 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2661-5C>T single nucleotide variant not provided [RCV000884317] Chr6:43046096 [GRCh38]
Chr6:43013834 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1982G>A (p.Arg661Gln) single nucleotide variant 3M syndrome 1 [RCV001162038]|CUL7-related disorder [RCV003940490]|not provided [RCV000884318] Chr6:43048413 [GRCh38]
Chr6:43016151 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.2403G>A (p.Val801=) single nucleotide variant not provided [RCV000968842] Chr6:43046596 [GRCh38]
Chr6:43014334 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4261A>G (p.Thr1421Ala) single nucleotide variant 3M syndrome 1 [RCV001158946]|not provided [RCV000901232] Chr6:43040189 [GRCh38]
Chr6:43007927 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.3049G>A (p.Ala1017Thr) single nucleotide variant 3M syndrome 1 [RCV005036249]|CUL7-related disorder [RCV003930625]|not provided [RCV000884625] Chr6:43044875 [GRCh38]
Chr6:43012613 [GRCh37]
Chr6:6p21.1		 likely benign|uncertain significance
NM_014780.5(CUL7):c.4104G>A (p.Ala1368=) single nucleotide variant CUL7-related disorder [RCV003910772]|not provided [RCV000902348] Chr6:43040346 [GRCh38]
Chr6:43008084 [GRCh37]
Chr6:6p21.1		 likely benign
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1		 pathogenic
NM_014780.5(CUL7):c.3685C>T (p.Gln1229Ter) single nucleotide variant 3M syndrome 1 [RCV000778114] Chr6:43041036 [GRCh38]
Chr6:43008774 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.1482G>A (p.Trp494Ter) single nucleotide variant 3M syndrome 1 [RCV000778115] Chr6:43050050 [GRCh38]
Chr6:43017788 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.206dup (p.Met69fs) duplication 3M syndrome 1 [RCV000778116] Chr6:43052582..43052583 [GRCh38]
Chr6:43020320..43020321 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.4115del (p.Glu1372fs) deletion 3M syndrome 1 [RCV000778120] Chr6:43040335 [GRCh38]
Chr6:43008073 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.3089del (p.Pro1030fs) deletion 3M syndrome 1 [RCV000778121] Chr6:43044835 [GRCh38]
Chr6:43012573 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.4(CUL7):c.2767_2789delGTGAATGTGATGCCCTCTGCCAG deletion 3M syndrome 1 [RCV000778792] Chr6:43045660..43045682 [GRCh38]
Chr6:43013398..43013420 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2581C>T (p.Pro861Ser) single nucleotide variant not provided [RCV002061121]|not specified [RCV002265883] Chr6:43046315 [GRCh38]
Chr6:43014053 [GRCh37]
Chr6:6p21.1		 likely benign|uncertain significance
NM_014780.5(CUL7):c.3915G>A (p.Leu1305=) single nucleotide variant 3M syndrome 1 [RCV001160286]|not provided [RCV000920976] Chr6:43040638 [GRCh38]
Chr6:43008376 [GRCh37]
Chr6:6p21.1		 likely benign|uncertain significance
NM_014780.5(CUL7):c.87C>G (p.Arg29=) single nucleotide variant not provided [RCV000916383] Chr6:43052702 [GRCh38]
Chr6:43020440 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3368_3369del (p.Arg1123fs) deletion 3M syndrome 1 [RCV003314151] Chr6:43043167..43043168 [GRCh38]
Chr6:43010905..43010906 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.140G>A (p.Arg47His) single nucleotide variant Inborn genetic diseases [RCV003267696] Chr6:43052649 [GRCh38]
Chr6:43020387 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1753G>A (p.Ala585Thr) single nucleotide variant 3M syndrome 1 [RCV001164052]|not provided [RCV001859054] Chr6:43049479 [GRCh38]
Chr6:43017217 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1749A>G (p.Leu583=) single nucleotide variant 3M syndrome 1 [RCV001164053] Chr6:43049483 [GRCh38]
Chr6:43017221 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.140G>T (p.Arg47Leu) single nucleotide variant 3M syndrome 1 [RCV001164149]|Inborn genetic diseases [RCV002558587]|not provided [RCV002558586] Chr6:43052649 [GRCh38]
Chr6:43020387 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.60C>T (p.Ala20=) single nucleotide variant 3M syndrome 1 [RCV001164151] Chr6:43052729 [GRCh38]
Chr6:43020467 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4605G>A (p.Arg1535=) single nucleotide variant 3M syndrome 1 [RCV001163877]|not provided [RCV005093679] Chr6:43038435 [GRCh38]
Chr6:43006173 [GRCh37]
Chr6:6p21.1		 likely benign|uncertain significance
NM_014780.5(CUL7):c.4570G>A (p.Val1524Ile) single nucleotide variant 3M syndrome 1 [RCV001163878]|Inborn genetic diseases [RCV004609643]|not provided [RCV001351272] Chr6:43038470 [GRCh38]
Chr6:43006208 [GRCh37]
Chr6:6p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.2819G>A (p.Arg940His) single nucleotide variant 3M syndrome 1 [RCV001163966]|not provided [RCV002032509] Chr6:43045630 [GRCh38]
Chr6:43013368 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.652del (p.Arg218fs) deletion 3M syndrome 1 [RCV000987706] Chr6:43051692 [GRCh38]
Chr6:43019430 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.1689T>C (p.His563=) single nucleotide variant 3M syndrome 1 [RCV001164054] Chr6:43049543 [GRCh38]
Chr6:43017281 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4607C>T (p.Ser1536Leu) single nucleotide variant 3M syndrome 1 [RCV001163876] Chr6:43038433 [GRCh38]
Chr6:43006171 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4431C>T (p.Asn1477=) single nucleotide variant CUL7-related disorder [RCV003950843]|not provided [RCV000917175] Chr6:43038851 [GRCh38]
Chr6:43006589 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1144C>T (p.Arg382Ter) single nucleotide variant 3M syndrome 1 [RCV000985217]|not provided [RCV001858614] Chr6:43051057 [GRCh38]
Chr6:43018795 [GRCh37]
Chr6:6p21.1		 pathogenic|uncertain significance
NM_014780.5(CUL7):c.2988G>A (p.Trp996Ter) single nucleotide variant 3M syndrome 1 [RCV001028003]|not provided [RCV004720040] Chr6:43045277 [GRCh38]
Chr6:43013015 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.3184A>G (p.Ile1062Val) single nucleotide variant 3M syndrome 1 [RCV001161951]|Inborn genetic diseases [RCV004978074] Chr6:43043619 [GRCh38]
Chr6:43011357 [GRCh37]
Chr6:6p21.1		 likely benign|uncertain significance
NM_014780.5(CUL7):c.3283C>T (p.Arg1095Cys) single nucleotide variant 3M syndrome 1 [RCV001161950] Chr6:43043520 [GRCh38]
Chr6:43011258 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2754G>T (p.Thr918=) single nucleotide variant 3M syndrome 1 [RCV001159044] Chr6:43045998 [GRCh38]
Chr6:43013736 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1417G>A (p.Val473Met) single nucleotide variant 3M syndrome 1 [RCV001159143] Chr6:43050115 [GRCh38]
Chr6:43017853 [GRCh37]
Chr6:6p21.1		 uncertain significance
NC_000006.11:g.(?_42162409)_(44154249_?)del deletion not provided [RCV003107587] Chr6:42162409..44154249 [GRCh37]
Chr6:6p21.1		 uncertain significance
NC_000006.12:g.43037427CT[3] microsatellite not provided [RCV001612106] Chr6:43037425..43037426 [GRCh38]
Chr6:43005163..43005164 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.3173-271C>T single nucleotide variant not provided [RCV001617889] Chr6:43043901 [GRCh38]
Chr6:43011639 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.2489-32C>T single nucleotide variant not provided [RCV001688711] Chr6:43046439 [GRCh38]
Chr6:43014177 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.2169+180C>T single nucleotide variant not provided [RCV001717861] Chr6:43047968 [GRCh38]
Chr6:43015706 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.4295-257A>G single nucleotide variant not provided [RCV001643249] Chr6:43039244 [GRCh38]
Chr6:43006982 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.2766+62A>G single nucleotide variant not provided [RCV001694534] Chr6:43045924 [GRCh38]
Chr6:43013662 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.3010C>G (p.Arg1004Gly) single nucleotide variant Inborn genetic diseases [RCV003276053] Chr6:43045255 [GRCh38]
Chr6:43012993 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.426C>T (p.His142=) single nucleotide variant 3M syndrome 1 [RCV001162135]|CUL7-related disorder [RCV003970583]|not provided [RCV000933517] Chr6:43052363 [GRCh38]
Chr6:43020101 [GRCh37]
Chr6:6p21.1		 likely benign|uncertain significance
NM_014780.5(CUL7):c.2865T>C (p.Gly955=) single nucleotide variant not provided [RCV000925069] Chr6:43045400 [GRCh38]
Chr6:43013138 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4587T>C (p.Asp1529=) single nucleotide variant not provided [RCV000974570] Chr6:43038453 [GRCh38]
Chr6:43006191 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1317C>T (p.Asp439=) single nucleotide variant not provided [RCV000907978] Chr6:43050315 [GRCh38]
Chr6:43018053 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2550G>A (p.Pro850=) single nucleotide variant not provided [RCV000923689] Chr6:43046346 [GRCh38]
Chr6:43014084 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1168GAG[1] (p.Glu391del) microsatellite CUL7-related disorder [RCV003960657]|not provided [RCV000954923] Chr6:43051028..43051030 [GRCh38]
Chr6:43018766..43018768 [GRCh37]
Chr6:6p21.1		 benign|likely benign
NM_014780.5(CUL7):c.324G>A (p.Glu108=) single nucleotide variant not provided [RCV000887789] Chr6:43052465 [GRCh38]
Chr6:43020203 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4059C>T (p.Ser1353=) single nucleotide variant 3M syndrome 1 [RCV001158948]|CUL7-related disorder [RCV003928756] Chr6:43040391 [GRCh38]
Chr6:43008129 [GRCh37]
Chr6:6p21.1		 likely benign|uncertain significance
NM_014780.5(CUL7):c.4035G>A (p.Gly1345=) single nucleotide variant 3M syndrome 1 [RCV001158949] Chr6:43040415 [GRCh38]
Chr6:43008153 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2583C>G (p.Pro861=) single nucleotide variant 3M syndrome 1 [RCV001159047] Chr6:43046313 [GRCh38]
Chr6:43014051 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1165T>C (p.Tyr389His) single nucleotide variant 3M syndrome 1 [RCV001159144] Chr6:43051036 [GRCh38]
Chr6:43018774 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4972G>A (p.Glu1658Lys) single nucleotide variant 3M syndrome 1 [RCV001160196]|Inborn genetic diseases [RCV005318634] Chr6:43037813 [GRCh38]
Chr6:43005551 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3722_3749dup (p.Val1252fs) duplication 3M syndrome 1 [RCV001174508] Chr6:43040971..43040972 [GRCh38]
Chr6:43008709..43008710 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.1000C>A (p.Gln334Lys) single nucleotide variant 3M syndrome 1 [RCV001225304] Chr6:43051201 [GRCh38]
Chr6:43018939 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.687G>A (p.Thr229=) single nucleotide variant CUL7-related disorder [RCV003970586]|not provided [RCV000933922] Chr6:43051657 [GRCh38]
Chr6:43019395 [GRCh37]
Chr6:6p21.1		 benign|likely benign
NM_014780.5(CUL7):c.2948G>A (p.Arg983His) single nucleotide variant not provided [RCV000913646] Chr6:43045317 [GRCh38]
Chr6:43013055 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.246G>A (p.Leu82=) single nucleotide variant not provided [RCV000911441] Chr6:43052543 [GRCh38]
Chr6:43020281 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3768C>T (p.Ser1256=) single nucleotide variant CUL7-related disorder [RCV003923161]|not provided [RCV000911475] Chr6:43040953 [GRCh38]
Chr6:43008691 [GRCh37]
Chr6:6p21.1		 benign|likely benign
NM_014780.5(CUL7):c.2724C>T (p.Cys908=) single nucleotide variant not provided [RCV000911573] Chr6:43046028 [GRCh38]
Chr6:43013766 [GRCh37]
Chr6:6p21.1		 likely benign|conflicting interpretations of pathogenicity
NM_014780.5(CUL7):c.3386C>T (p.Ser1129Phe) single nucleotide variant Inborn genetic diseases [RCV003253031] Chr6:43043150 [GRCh38]
Chr6:43010888 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1234-207GT[27] microsatellite not provided [RCV001654577] Chr6:43050550..43050551 [GRCh38]
Chr6:43018288..43018289 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.3646-63T>C single nucleotide variant not provided [RCV001669583] Chr6:43041138 [GRCh38]
Chr6:43008876 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.3491G>A (p.Arg1164Gln) single nucleotide variant 3M syndrome 1 [RCV001160290] Chr6:43042956 [GRCh38]
Chr6:43010694 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.866G>C (p.Arg289Thr) single nucleotide variant 3M syndrome 1 [RCV001160498]|not provided [RCV002557371] Chr6:43051335 [GRCh38]
Chr6:43019073 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.268G>A (p.Gly90Arg) single nucleotide variant 3M syndrome 1 [RCV001162136]|not provided [RCV002032496] Chr6:43052521 [GRCh38]
Chr6:43020259 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3463-15G>T single nucleotide variant 3M syndrome 1 [RCV001161948] Chr6:43042999 [GRCh38]
Chr6:43010737 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1823A>G (p.Glu608Gly) single nucleotide variant 3M syndrome 1 [RCV001162040]|not provided [RCV002071009] Chr6:43049409 [GRCh38]
Chr6:43017147 [GRCh37]
Chr6:6p21.1		 benign|uncertain significance
NM_014780.5(CUL7):c.4069G>A (p.Glu1357Lys) single nucleotide variant 3M syndrome 1 [RCV001158947] Chr6:43040381 [GRCh38]
Chr6:43008119 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2612C>T (p.Ala871Val) single nucleotide variant 3M syndrome 1 [RCV001159045]|not provided [RCV001510503] Chr6:43046284 [GRCh38]
Chr6:43014022 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.1457G>A (p.Cys486Tyr) single nucleotide variant 3M syndrome 1 [RCV001159142]|not provided [RCV001859034]|not specified [RCV003994222] Chr6:43050075 [GRCh38]
Chr6:43017813 [GRCh37]
Chr6:6p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014780.5(CUL7):c.1101T>C (p.Asn367=) single nucleotide variant 3M syndrome 1 [RCV001159145] Chr6:43051100 [GRCh38]
Chr6:43018838 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.5093G>A (p.Arg1698Gln) single nucleotide variant 3M syndrome 1 [RCV001160194]|not provided [RCV001859038] Chr6:43037692 [GRCh38]
Chr6:43005430 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2360G>A (p.Arg787His) single nucleotide variant 3M syndrome 1 [RCV001160389]|Inborn genetic diseases [RCV004609642]|not provided [RCV002559536] Chr6:43046917 [GRCh38]
Chr6:43014655 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1234-207GT[18] microsatellite not provided [RCV001651893] Chr6:43050550..43050569 [GRCh38]
Chr6:43018288..43018307 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.3172+254del deletion not provided [RCV001691520] Chr6:43044498 [GRCh38]
Chr6:43012236 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.1234-207GT[25] microsatellite not provided [RCV001666303] Chr6:43050550..43050555 [GRCh38]
Chr6:43018288..43018293 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.3433C>T (p.Arg1145Cys) single nucleotide variant Inborn genetic diseases [RCV004980602]|not provided [RCV001572601] Chr6:43043103 [GRCh38]
Chr6:43010841 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3284G>A (p.Arg1095His) single nucleotide variant 3M syndrome 1 [RCV001161949]|Inborn genetic diseases [RCV004032855]|not provided [RCV002032493] Chr6:43043519 [GRCh38]
Chr6:43011257 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1234-207GT[19] microsatellite not provided [RCV001711052] Chr6:43050550..43050567 [GRCh38]
Chr6:43018288..43018305 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.3750_3762delinsGC (p.Ala1251fs) indel not provided [RCV001597540] Chr6:43040959..43040971 [GRCh38]
Chr6:43008697..43008709 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.4823G>A (p.Ser1608Asn) single nucleotide variant 3M syndrome 1 [RCV001163574]|not provided [RCV002032505] Chr6:43037962 [GRCh38]
Chr6:43005700 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1867C>T (p.Arg623Cys) single nucleotide variant 3M syndrome 1 [RCV001162039]|not provided [RCV002032495] Chr6:43048528 [GRCh38]
Chr6:43016266 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.463G>A (p.Gly155Arg) single nucleotide variant not provided [RCV001043082] Chr6:43052326 [GRCh38]
Chr6:43020064 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4417C>T (p.Leu1473=) single nucleotide variant 3M syndrome 1 [RCV001163880]|not provided [RCV001515430] Chr6:43038865 [GRCh38]
Chr6:43006603 [GRCh37]
Chr6:6p21.1		 benign|uncertain significance
NM_014780.5(CUL7):c.213G>C (p.Lys71Asn) single nucleotide variant 3M syndrome 1 [RCV001164148] Chr6:43052576 [GRCh38]
Chr6:43020314 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.-186A>C single nucleotide variant 3M syndrome 1 [RCV001159243] Chr6:43053799 [GRCh38]
Chr6:43021537 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.-206A>G single nucleotide variant 3M syndrome 1 [RCV001159244] Chr6:43053819 [GRCh38]
Chr6:43021557 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2818C>T (p.Arg940Cys) single nucleotide variant 3M syndrome 1 [RCV001163967]|Inborn genetic diseases [RCV004032871] Chr6:43045631 [GRCh38]
Chr6:43013369 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3605C>T (p.Ala1202Val) single nucleotide variant 3M syndrome 1 [RCV001160289]|not provided [RCV002032482] Chr6:43042842 [GRCh38]
Chr6:43010580 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.767G>A (p.Arg256Gln) single nucleotide variant 3M syndrome 1 [RCV001160499]|not provided [RCV002032485] Chr6:43051434 [GRCh38]
Chr6:43019172 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1093A>C (p.Ser365Arg) single nucleotide variant not provided [RCV001295235] Chr6:43051108 [GRCh38]
Chr6:43018846 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2965T>G (p.Tyr989Asp) single nucleotide variant 3M syndrome 1 [RCV001265588] Chr6:43045300 [GRCh38]
Chr6:43013038 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.2660+1G>C single nucleotide variant Inborn genetic diseases [RCV001266311]|not provided [RCV001381149] Chr6:43046235 [GRCh38]
Chr6:43013973 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.4504A>T (p.Ile1502Phe) single nucleotide variant 3M syndrome 1 [RCV001328793] Chr6:43038629 [GRCh38]
Chr6:43006367 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2636A>G (p.His879Arg) single nucleotide variant Inborn genetic diseases [RCV002546937]|not provided [RCV001341641] Chr6:43046260 [GRCh38]
Chr6:43013998 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.839C>G (p.Ser280Cys) single nucleotide variant not provided [RCV001318447] Chr6:43051362 [GRCh38]
Chr6:43019100 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4886T>G (p.Leu1629Arg) single nucleotide variant not provided [RCV001349106] Chr6:43037899 [GRCh38]
Chr6:43005637 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1372G>A (p.Ala458Thr) single nucleotide variant not provided [RCV001313469] Chr6:43050260 [GRCh38]
Chr6:43017998 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.373C>G (p.Leu125Val) single nucleotide variant not provided [RCV001340989] Chr6:43052416 [GRCh38]
Chr6:43020154 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2200C>T (p.Arg734Cys) single nucleotide variant 3M syndrome 1 [RCV001334786]|not provided [RCV001326109] Chr6:43047077 [GRCh38]
Chr6:43014815 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2546A>G (p.Asn849Ser) single nucleotide variant Inborn genetic diseases [RCV005318720]|not provided [RCV001305189] Chr6:43046350 [GRCh38]
Chr6:43014088 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3537G>A (p.Leu1179=) single nucleotide variant not provided [RCV001433465] Chr6:43042910 [GRCh38]
Chr6:43010648 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.427G>A (p.Val143Met) single nucleotide variant Inborn genetic diseases [RCV003169780]|not provided [RCV001359143] Chr6:43052362 [GRCh38]
Chr6:43020100 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3355+5G>A single nucleotide variant not provided [RCV001349446] Chr6:43043443 [GRCh38]
Chr6:43011181 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4888G>A (p.Gly1630Ser) single nucleotide variant Inborn genetic diseases [RCV004980372]|not provided [RCV001362570] Chr6:43037897 [GRCh38]
Chr6:43005635 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2267C>G (p.Ser756Cys) single nucleotide variant not provided [RCV001345769] Chr6:43047010 [GRCh38]
Chr6:43014748 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4763T>C (p.Leu1588Pro) single nucleotide variant 3-M syndrome [RCV003155388]|3M syndrome 1 [RCV001293688]|not provided [RCV001871747] Chr6:43038277 [GRCh38]
Chr6:43006015 [GRCh37]
Chr6:6p21.1		 pathogenic|likely pathogenic|uncertain significance
NM_014780.5(CUL7):c.2843G>A (p.Arg948His) single nucleotide variant not provided [RCV001361053] Chr6:43045606 [GRCh38]
Chr6:43013344 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.418_419del (p.Thr140fs) microsatellite 3M syndrome 1 [RCV001268949] Chr6:43052370..43052371 [GRCh38]
Chr6:43020108..43020109 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.3935A>T (p.Lys1312Met) single nucleotide variant not provided [RCV001297398] Chr6:43040618 [GRCh38]
Chr6:43008356 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.294G>C (p.Glu98Asp) single nucleotide variant not provided [RCV001363151] Chr6:43052495 [GRCh38]
Chr6:43020233 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3178del (p.Asp1060fs) deletion Three M syndrome 1 [RCV001328792] Chr6:43043625 [GRCh38]
Chr6:43011363 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.1825+3G>A single nucleotide variant not provided [RCV001370154] Chr6:43049404 [GRCh38]
Chr6:43017142 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2207C>T (p.Thr736Ile) single nucleotide variant not provided [RCV001347699] Chr6:43047070 [GRCh38]
Chr6:43014808 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2381T>G (p.Leu794Arg) single nucleotide variant 3M syndrome 1 [RCV001328791] Chr6:43046896 [GRCh38]
Chr6:43014634 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.5041C>G (p.Arg1681Gly) single nucleotide variant 3M syndrome 1 [RCV001328794] Chr6:43037744 [GRCh38]
Chr6:43005482 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.667G>T (p.Ala223Ser) single nucleotide variant not provided [RCV001350962] Chr6:43051677 [GRCh38]
Chr6:43019415 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3645+2T>C single nucleotide variant 3M syndrome 1 [RCV004797678] Chr6:43042800 [GRCh38]
Chr6:43010538 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NC_000006.11:g.(?_42928506)_(43737486_?)del deletion not provided [RCV001384708] Chr6:42928506..43737486 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.2064-5C>T single nucleotide variant CUL7-related disorder [RCV003938707]|not provided [RCV001413992] Chr6:43048258 [GRCh38]
Chr6:43015996 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4074A>T (p.Glu1358Asp) single nucleotide variant 3M syndrome 1 [RCV003145633]|Inborn genetic diseases [RCV004037064]|not provided [RCV001368903]|not specified [RCV005236838] Chr6:43040376 [GRCh38]
Chr6:43008114 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.580+48C>T single nucleotide variant 3M syndrome 1 [RCV001330435] Chr6:43052161 [GRCh38]
Chr6:43019899 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.733-7C>T single nucleotide variant not provided [RCV001504692] Chr6:43051475 [GRCh38]
Chr6:43019213 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1461A>G (p.Glu487=) single nucleotide variant not provided [RCV001417761] Chr6:43050071 [GRCh38]
Chr6:43017809 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.39C>T (p.Pro13=) single nucleotide variant not provided [RCV001459331] Chr6:43052750 [GRCh38]
Chr6:43020488 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1569+10G>A single nucleotide variant not provided [RCV001466977] Chr6:43049953 [GRCh38]
Chr6:43017691 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4731C>T (p.Ala1577=) single nucleotide variant CUL7-related disorder [RCV003940959]|not provided [RCV001521803] Chr6:43038309 [GRCh38]
Chr6:43006047 [GRCh37]
Chr6:6p21.1		 benign|likely benign
NM_014780.5(CUL7):c.4773+1G>A single nucleotide variant not provided [RCV001387417] Chr6:43038266 [GRCh38]
Chr6:43006004 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.4567+13G>A single nucleotide variant not provided [RCV005061901] Chr6:43038553 [GRCh38]
Chr6:43006291 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.480A>C (p.Pro160=) single nucleotide variant not provided [RCV001432141] Chr6:43052309 [GRCh38]
Chr6:43020047 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4295-174C>A single nucleotide variant not provided [RCV001619297] Chr6:43039161 [GRCh38]
Chr6:43006899 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.3172+211C>G single nucleotide variant not provided [RCV001671041] Chr6:43044541 [GRCh38]
Chr6:43012279 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.4294+257G>A single nucleotide variant not provided [RCV001716540] Chr6:43039899 [GRCh38]
Chr6:43007637 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.3531T>C (p.Asn1177=) single nucleotide variant not provided [RCV001501019] Chr6:43042916 [GRCh38]
Chr6:43010654 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1234-207GT[20] microsatellite not provided [RCV001652255] Chr6:43050550..43050565 [GRCh38]
Chr6:43018288..43018303 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.581-165G>A single nucleotide variant not provided [RCV001610081] Chr6:43051928 [GRCh38]
Chr6:43019666 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.4545C>T (p.His1515=) single nucleotide variant not provided [RCV001501983] Chr6:43038588 [GRCh38]
Chr6:43006326 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2074C>T (p.Gln692Ter) single nucleotide variant not provided [RCV001381090] Chr6:43048243 [GRCh38]
Chr6:43015981 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.2571G>A (p.Thr857=) single nucleotide variant not provided [RCV001462872] Chr6:43046325 [GRCh38]
Chr6:43014063 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.300G>A (p.Gly100=) single nucleotide variant not provided [RCV001499332] Chr6:43052489 [GRCh38]
Chr6:43020227 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.650del (p.Ser217fs) deletion not provided [RCV001385623] Chr6:43051694 [GRCh38]
Chr6:43019432 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.3907C>T (p.Gln1303Ter) single nucleotide variant not provided [RCV001384064] Chr6:43040646 [GRCh38]
Chr6:43008384 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.649_654del (p.Ser217_Arg218del) deletion 3-M syndrome [RCV002238638] Chr6:43051690..43051695 [GRCh38]
Chr6:43019428..43019433 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.3295del (p.Leu1099fs) deletion 3M syndrome 1 [RCV002238735] Chr6:43043508 [GRCh38]
Chr6:43011246 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.3061G>A (p.Glu1021Lys) single nucleotide variant 3M syndrome 1 [RCV002238736] Chr6:43044863 [GRCh38]
Chr6:43012601 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.3902C>G (p.Pro1301Arg) single nucleotide variant 3M syndrome 1 [RCV002238737] Chr6:43040651 [GRCh38]
Chr6:43008389 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3253C>T (p.Arg1085Cys) single nucleotide variant Inborn genetic diseases [RCV005315855]|not specified [RCV005237099] Chr6:43043550 [GRCh38]
Chr6:43011288 [GRCh37]
Chr6:6p21.1		 uncertain significance
GRCh37/hg19 6p21.1(chr6:42548155-43053728)x3 copy number gain not provided [RCV001834401] Chr6:42548155..43053728 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2428C>T (p.Arg810Ter) single nucleotide variant 3M syndrome 1 [RCV004596030] Chr6:43046571 [GRCh38]
Chr6:43014309 [GRCh37]
Chr6:6p21.1		 pathogenic|likely pathogenic
NM_014780.5(CUL7):c.2862+2T>G single nucleotide variant 3M syndrome 1 [RCV002249019] Chr6:43045585 [GRCh38]
Chr6:43013323 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.2363A>G (p.Lys788Arg) single nucleotide variant Inborn genetic diseases [RCV005320843]|not provided [RCV001766937] Chr6:43046914 [GRCh38]
Chr6:43014652 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.-182G>C single nucleotide variant not provided [RCV003238592] Chr6:43053795 [GRCh38]
Chr6:43021533 [GRCh37]
Chr6:6p21.1		 uncertain significance
NC_000006.12:g.43054341C>T single nucleotide variant not provided [RCV001760832] Chr6:43054341 [GRCh38]
Chr6:43022079 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3937G>T (p.Glu1313Ter) single nucleotide variant not provided [RCV003555252] Chr6:43040616 [GRCh38]
Chr6:43008354 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.2658C>T (p.Ile886=) single nucleotide variant not provided [RCV001814713] Chr6:43046238 [GRCh38]
Chr6:43013976 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3523C>T (p.His1175Tyr) single nucleotide variant not provided [RCV001815952] Chr6:43042924 [GRCh38]
Chr6:43010662 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1120C>T (p.Arg374Trp) single nucleotide variant not specified [RCV001819679] Chr6:43051081 [GRCh38]
Chr6:43018819 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4277_4278insG (p.Asn1427fs) insertion 3M syndrome 1 [RCV004799137] Chr6:43040172..43040173 [GRCh38]
Chr6:43007910..43007911 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.5011C>T (p.Leu1671Phe) single nucleotide variant not provided [RCV001896883] Chr6:43037774 [GRCh38]
Chr6:43005512 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2957G>A (p.Arg986His) single nucleotide variant Inborn genetic diseases [RCV002545798]|not provided [RCV001874097] Chr6:43045308 [GRCh38]
Chr6:43013046 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1412A>G (p.Tyr471Cys) single nucleotide variant CUL7-related disorder [RCV004754830]|Inborn genetic diseases [RCV002545581]|not provided [RCV002023024] Chr6:43050120 [GRCh38]
Chr6:43017858 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2667del (p.Thr890fs) deletion not provided [RCV001970024] Chr6:43046085 [GRCh38]
Chr6:43013823 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.447C>G (p.Ser149Arg) single nucleotide variant not provided [RCV002001996] Chr6:43052342 [GRCh38]
Chr6:43020080 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1387C>T (p.Arg463Cys) single nucleotide variant Inborn genetic diseases [RCV004975974]|not provided [RCV001987745] Chr6:43050145 [GRCh38]
Chr6:43017883 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2915C>T (p.Thr972Met) single nucleotide variant not provided [RCV002008388] Chr6:43045350 [GRCh38]
Chr6:43013088 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1123G>T (p.Asp375Tyr) single nucleotide variant Inborn genetic diseases [RCV005320944]|not provided [RCV001915270] Chr6:43051078 [GRCh38]
Chr6:43018816 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.815C>T (p.Ala272Val) single nucleotide variant not provided [RCV001863629] Chr6:43051386 [GRCh38]
Chr6:43019124 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1272C>A (p.His424Gln) single nucleotide variant not provided [RCV001970261] Chr6:43050360 [GRCh38]
Chr6:43018098 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2197C>T (p.His733Tyr) single nucleotide variant Inborn genetic diseases [RCV004980744]|not specified [RCV001844673] Chr6:43047080 [GRCh38]
Chr6:43014818 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1012G>A (p.Val338Met) single nucleotide variant not provided [RCV001911321] Chr6:43051189 [GRCh38]
Chr6:43018927 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3508C>G (p.Pro1170Ala) single nucleotide variant Inborn genetic diseases [RCV004612066]|not provided [RCV001988218] Chr6:43042939 [GRCh38]
Chr6:43010677 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.16C>T (p.Arg6Cys) single nucleotide variant not provided [RCV001890824] Chr6:43052773 [GRCh38]
Chr6:43020511 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2570C>T (p.Thr857Met) single nucleotide variant 3M syndrome 1 [RCV005038468]|not provided [RCV001893732] Chr6:43046326 [GRCh38]
Chr6:43014064 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.150G>C (p.Glu50Asp) single nucleotide variant Inborn genetic diseases [RCV002573403]|not provided [RCV002005503] Chr6:43052639 [GRCh38]
Chr6:43020377 [GRCh37]
Chr6:6p21.1		 likely benign|uncertain significance
NM_014780.5(CUL7):c.3895C>T (p.Arg1299Cys) single nucleotide variant 3M syndrome 1 [RCV001823435] Chr6:43040658 [GRCh38]
Chr6:43008396 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3421_3425delinsTTC (p.Arg1141fs) indel not provided [RCV001843674] Chr6:43043111..43043115 [GRCh38]
Chr6:43010849..43010853 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.805G>A (p.Asp269Asn) single nucleotide variant not provided [RCV002041732] Chr6:43051396 [GRCh38]
Chr6:43019134 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2791C>T (p.Arg931Trp) single nucleotide variant not provided [RCV001945797] Chr6:43045658 [GRCh38]
Chr6:43013396 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2744C>A (p.Ser915Tyr) single nucleotide variant not specified [RCV001844672] Chr6:43046008 [GRCh38]
Chr6:43013746 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3129G>A (p.Trp1043Ter) single nucleotide variant not provided [RCV001871753] Chr6:43044795 [GRCh38]
Chr6:43012533 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.3548G>A (p.Ser1183Asn) single nucleotide variant not provided [RCV002007766] Chr6:43042899 [GRCh38]
Chr6:43010637 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2549C>T (p.Pro850Leu) single nucleotide variant Inborn genetic diseases [RCV005321040]|not provided [RCV002005189] Chr6:43046347 [GRCh38]
Chr6:43014085 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4681G>C (p.Glu1561Gln) single nucleotide variant Inborn genetic diseases [RCV004976160]|not provided [RCV002022923] Chr6:43038359 [GRCh38]
Chr6:43006097 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3011G>A (p.Arg1004His) single nucleotide variant not provided [RCV001948775] Chr6:43045254 [GRCh38]
Chr6:43012992 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4024G>C (p.Val1342Leu) single nucleotide variant not provided [RCV002022960] Chr6:43040426 [GRCh38]
Chr6:43008164 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4103C>T (p.Ala1368Val) single nucleotide variant not provided [RCV001914274] Chr6:43040347 [GRCh38]
Chr6:43008085 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4848C>A (p.Cys1616Ter) single nucleotide variant 3M syndrome 1 [RCV001823434] Chr6:43037937 [GRCh38]
Chr6:43005675 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4733A>G (p.His1578Arg) single nucleotide variant not provided [RCV001926379] Chr6:43038307 [GRCh38]
Chr6:43006045 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.16C>A (p.Arg6Ser) single nucleotide variant Inborn genetic diseases [RCV002547901]|not provided [RCV001863311] Chr6:43052773 [GRCh38]
Chr6:43020511 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2767G>A (p.Val923Met) single nucleotide variant not provided [RCV002023916] Chr6:43045682 [GRCh38]
Chr6:43013420 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2614G>C (p.Gly872Arg) single nucleotide variant not provided [RCV001908062] Chr6:43046282 [GRCh38]
Chr6:43014020 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4044C>T (p.Gly1348=) single nucleotide variant not provided [RCV001969304] Chr6:43040406 [GRCh38]
Chr6:43008144 [GRCh37]
Chr6:6p21.1		 likely benign|uncertain significance
NM_014780.5(CUL7):c.1484G>A (p.Trp495Ter) single nucleotide variant not provided [RCV001946673] Chr6:43050048 [GRCh38]
Chr6:43017786 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.4582C>T (p.Arg1528Ter) single nucleotide variant not provided [RCV001892865] Chr6:43038458 [GRCh38]
Chr6:43006196 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.4886T>C (p.Leu1629Pro) single nucleotide variant not provided [RCV001963713] Chr6:43037899 [GRCh38]
Chr6:43005637 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4466C>T (p.Ala1489Val) single nucleotide variant not provided [RCV001961864] Chr6:43038667 [GRCh38]
Chr6:43006405 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.80G>A (p.Arg27His) single nucleotide variant not provided [RCV002037116] Chr6:43052709 [GRCh38]
Chr6:43020447 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2290G>A (p.Gly764Arg) single nucleotide variant not provided [RCV001880748] Chr6:43046987 [GRCh38]
Chr6:43014725 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3280C>T (p.Arg1094Cys) single nucleotide variant Inborn genetic diseases [RCV003289138]|not provided [RCV001902286] Chr6:43043523 [GRCh38]
Chr6:43011261 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2201G>A (p.Arg734His) single nucleotide variant not provided [RCV001888667] Chr6:43047076 [GRCh38]
Chr6:43014814 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3310G>A (p.Glu1104Lys) single nucleotide variant Inborn genetic diseases [RCV003269068]|not provided [RCV001999326] Chr6:43043493 [GRCh38]
Chr6:43011231 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4281C>G (p.Asn1427Lys) single nucleotide variant not provided [RCV001866735] Chr6:43040169 [GRCh38]
Chr6:43007907 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.711C>G (p.Phe237Leu) single nucleotide variant not provided [RCV001996639] Chr6:43051633 [GRCh38]
Chr6:43019371 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1322T>G (p.Val441Gly) single nucleotide variant not provided [RCV001943740] Chr6:43050310 [GRCh38]
Chr6:43018048 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2133C>T (p.Cys711=) single nucleotide variant not provided [RCV001907127] Chr6:43048184 [GRCh38]
Chr6:43015922 [GRCh37]
Chr6:6p21.1		 likely benign|uncertain significance
NM_014780.5(CUL7):c.1981C>T (p.Arg661Trp) single nucleotide variant not provided [RCV001867032]|not specified [RCV004690148] Chr6:43048414 [GRCh38]
Chr6:43016152 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3356-2A>C single nucleotide variant 3M syndrome 1 [RCV005032052]|not provided [RCV001977946] Chr6:43043182 [GRCh38]
Chr6:43010920 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.4871G>A (p.Cys1624Tyr) single nucleotide variant not provided [RCV002050542] Chr6:43037914 [GRCh38]
Chr6:43005652 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4919G>A (p.Arg1640Gln) single nucleotide variant Inborn genetic diseases [RCV002552908]|not provided [RCV001897779] Chr6:43037866 [GRCh38]
Chr6:43005604 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1587C>G (p.Ile529Met) single nucleotide variant not provided [RCV001957597] Chr6:43049645 [GRCh38]
Chr6:43017383 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4319G>A (p.Arg1440Gln) single nucleotide variant not provided [RCV001921227] Chr6:43038963 [GRCh38]
Chr6:43006701 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1569+1G>T single nucleotide variant not provided [RCV001993748] Chr6:43049962 [GRCh38]
Chr6:43017700 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NC_000006.11:g.(?_42928506)_(43020526_?)dup duplication not provided [RCV001920678] Chr6:42928506..43020526 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.338_340dup (p.Asp113dup) duplication not provided [RCV001922516] Chr6:43052448..43052449 [GRCh38]
Chr6:43020186..43020187 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2317C>T (p.Arg773Trp) single nucleotide variant not provided [RCV001973082] Chr6:43046960 [GRCh38]
Chr6:43014698 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3470A>G (p.Asn1157Ser) single nucleotide variant not provided [RCV002030924] Chr6:43042977 [GRCh38]
Chr6:43010715 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2766+3A>T single nucleotide variant not provided [RCV001866291] Chr6:43045983 [GRCh38]
Chr6:43013721 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1234-3C>T single nucleotide variant not provided [RCV001867662] Chr6:43050401 [GRCh38]
Chr6:43018139 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2722T>G (p.Cys908Gly) single nucleotide variant not provided [RCV002014682] Chr6:43046030 [GRCh38]
Chr6:43013768 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.49G>A (p.Gly17Ser) single nucleotide variant not provided [RCV001931697] Chr6:43052740 [GRCh38]
Chr6:43020478 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4759C>T (p.Gln1587Ter) single nucleotide variant not provided [RCV001954826] Chr6:43038281 [GRCh38]
Chr6:43006019 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.4502C>T (p.Ala1501Val) single nucleotide variant not provided [RCV002027936] Chr6:43038631 [GRCh38]
Chr6:43006369 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2230G>A (p.Val744Met) single nucleotide variant 3M syndrome 1 [RCV002492306]|not provided [RCV002010248] Chr6:43047047 [GRCh38]
Chr6:43014785 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4937A>G (p.Tyr1646Cys) single nucleotide variant not provided [RCV001955605] Chr6:43037848 [GRCh38]
Chr6:43005586 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4553A>G (p.Lys1518Arg) single nucleotide variant not provided [RCV001951714] Chr6:43038580 [GRCh38]
Chr6:43006318 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4774-8C>G single nucleotide variant not provided [RCV001921449] Chr6:43038019 [GRCh38]
Chr6:43005757 [GRCh37]
Chr6:6p21.1		 likely benign|uncertain significance
NM_014780.5(CUL7):c.4657_4658delinsAG (p.Glu1553Arg) indel not provided [RCV001937110] Chr6:43038382..43038383 [GRCh38]
Chr6:43006120..43006121 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3904C>T (p.Gln1302Ter) single nucleotide variant not provided [RCV001906397] Chr6:43040649 [GRCh38]
Chr6:43008387 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.679C>T (p.Gln227Ter) single nucleotide variant not provided [RCV001925725] Chr6:43051665 [GRCh38]
Chr6:43019403 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.785C>A (p.Ser262Ter) single nucleotide variant not provided [RCV001978751] Chr6:43051416 [GRCh38]
Chr6:43019154 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.2884C>T (p.Arg962Trp) single nucleotide variant not provided [RCV001902963] Chr6:43045381 [GRCh38]
Chr6:43013119 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3849G>T (p.Trp1283Cys) single nucleotide variant not provided [RCV001864773] Chr6:43040704 [GRCh38]
Chr6:43008442 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1835C>T (p.Pro612Leu) single nucleotide variant not provided [RCV002047578] Chr6:43048560 [GRCh38]
Chr6:43016298 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.548G>A (p.Arg183Gln) single nucleotide variant 3M syndrome 1 [RCV004720342]|Inborn genetic diseases [RCV002561422]|not provided [RCV001982103] Chr6:43052241 [GRCh38]
Chr6:43019979 [GRCh37]
Chr6:6p21.1		 likely benign|uncertain significance
NM_014780.5(CUL7):c.1407A>C (p.Glu469Asp) single nucleotide variant not provided [RCV001900056] Chr6:43050125 [GRCh38]
Chr6:43017863 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4440+3G>A single nucleotide variant not provided [RCV001877340]|not specified [RCV004699516] Chr6:43038839 [GRCh38]
Chr6:43006577 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3380G>A (p.Trp1127Ter) single nucleotide variant not provided [RCV001898710] Chr6:43043156 [GRCh38]
Chr6:43010894 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.1171G>A (p.Glu391Lys) single nucleotide variant not provided [RCV001920984] Chr6:43051030 [GRCh38]
Chr6:43018768 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1907T>C (p.Leu636Pro) single nucleotide variant Inborn genetic diseases [RCV002555305]|not provided [RCV001906571] Chr6:43048488 [GRCh38]
Chr6:43016226 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.97G>C (p.Asp33His) single nucleotide variant not provided [RCV001961303] Chr6:43052692 [GRCh38]
Chr6:43020430 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3272C>T (p.Ser1091Leu) single nucleotide variant not provided [RCV002035020] Chr6:43043531 [GRCh38]
Chr6:43011269 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2132dup (p.Cys711fs) duplication 3-M syndrome [RCV004766575] Chr6:43048184..43048185 [GRCh38]
Chr6:43015922..43015923 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.1079G>A (p.Arg360His) single nucleotide variant Inborn genetic diseases [RCV004612077]|not provided [RCV001980518] Chr6:43051122 [GRCh38]
Chr6:43018860 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3893A>G (p.Asn1298Ser) single nucleotide variant not provided [RCV001925263]|not specified [RCV003479363] Chr6:43040660 [GRCh38]
Chr6:43008398 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1913T>G (p.Leu638Arg) single nucleotide variant Inborn genetic diseases [RCV002550301]|not provided [RCV001934981] Chr6:43048482 [GRCh38]
Chr6:43016220 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2396A>G (p.Gln799Arg) single nucleotide variant not provided [RCV002010595] Chr6:43046881 [GRCh38]
Chr6:43014619 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2947C>T (p.Arg983Cys) single nucleotide variant Inborn genetic diseases [RCV002608082]|not provided [RCV002012487]|not specified [RCV003331265] Chr6:43045318 [GRCh38]
Chr6:43013056 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1649G>A (p.Arg550Gln) single nucleotide variant not provided [RCV001917699] Chr6:43049583 [GRCh38]
Chr6:43017321 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.547C>T (p.Arg183Trp) single nucleotide variant not provided [RCV001955634] Chr6:43052242 [GRCh38]
Chr6:43019980 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.629A>C (p.Glu210Ala) single nucleotide variant not provided [RCV001977737] Chr6:43051715 [GRCh38]
Chr6:43019453 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4060G>A (p.Glu1354Lys) single nucleotide variant not provided [RCV001870588] Chr6:43040390 [GRCh38]
Chr6:43008128 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1078C>T (p.Arg360Cys) single nucleotide variant not provided [RCV001904318] Chr6:43051123 [GRCh38]
Chr6:43018861 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3568C>T (p.Arg1190Trp) single nucleotide variant Inborn genetic diseases [RCV002562904]|not provided [RCV001956007] Chr6:43042879 [GRCh38]
Chr6:43010617 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1528C>T (p.Gln510Ter) single nucleotide variant not provided [RCV001920843] Chr6:43050004 [GRCh38]
Chr6:43017742 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.3038+10_3038+11del microsatellite not provided [RCV002188772] Chr6:43045216..43045217 [GRCh38]
Chr6:43012954..43012955 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1029C>T (p.Pro343=) single nucleotide variant not provided [RCV002147831] Chr6:43051172 [GRCh38]
Chr6:43018910 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2064-7C>T single nucleotide variant CUL7-related disorder [RCV003903468]|not provided [RCV002091886] Chr6:43048260 [GRCh38]
Chr6:43015998 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2488+17G>A single nucleotide variant not provided [RCV002189871] Chr6:43046494 [GRCh38]
Chr6:43014232 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.733-32_733-17del deletion not provided [RCV002073777] Chr6:43051485..43051500 [GRCh38]
Chr6:43019223..43019238 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2028G>A (p.Pro676=) single nucleotide variant not provided [RCV002111970] Chr6:43048367 [GRCh38]
Chr6:43016105 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1234-9A>G single nucleotide variant not provided [RCV002148850] Chr6:43050407 [GRCh38]
Chr6:43018145 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4467G>A (p.Ala1489=) single nucleotide variant not provided [RCV002085707] Chr6:43038666 [GRCh38]
Chr6:43006404 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3038+17G>A single nucleotide variant not provided [RCV002168717] Chr6:43045210 [GRCh38]
Chr6:43012948 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3463-18C>T single nucleotide variant not provided [RCV002087053] Chr6:43043002 [GRCh38]
Chr6:43010740 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3463-4C>G single nucleotide variant not provided [RCV002071505] Chr6:43042988 [GRCh38]
Chr6:43010726 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.438C>T (p.Ala146=) single nucleotide variant not provided [RCV002144788] Chr6:43052351 [GRCh38]
Chr6:43020089 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3443G>A (p.Arg1148Gln) single nucleotide variant Inborn genetic diseases [RCV002562263]|not provided [RCV002187803] Chr6:43043093 [GRCh38]
Chr6:43010831 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2091C>T (p.Pro697=) single nucleotide variant not provided [RCV002105131] Chr6:43048226 [GRCh38]
Chr6:43015964 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2031G>A (p.Glu677=) single nucleotide variant not provided [RCV002205989] Chr6:43048364 [GRCh38]
Chr6:43016102 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3765C>T (p.Phe1255=) single nucleotide variant not provided [RCV002117425] Chr6:43040956 [GRCh38]
Chr6:43008694 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2169+14G>C single nucleotide variant not provided [RCV002175161] Chr6:43048134 [GRCh38]
Chr6:43015872 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3039-16C>G single nucleotide variant not provided [RCV002209428] Chr6:43044901 [GRCh38]
Chr6:43012639 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1782G>C (p.Ala594=) single nucleotide variant CUL7-related disorder [RCV003903431]|not provided [RCV002134953] Chr6:43049450 [GRCh38]
Chr6:43017188 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3646-14C>T single nucleotide variant not provided [RCV002170999]|not specified [RCV005406353] Chr6:43041089 [GRCh38]
Chr6:43008827 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1119G>A (p.Val373=) single nucleotide variant not provided [RCV002113670] Chr6:43051082 [GRCh38]
Chr6:43018820 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4089A>T (p.Ala1363=) single nucleotide variant not provided [RCV002169840] Chr6:43040361 [GRCh38]
Chr6:43008099 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2223C>T (p.Asp741=) single nucleotide variant not provided [RCV002174608] Chr6:43047054 [GRCh38]
Chr6:43014792 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1695C>T (p.Tyr565=) single nucleotide variant not provided [RCV002216074] Chr6:43049537 [GRCh38]
Chr6:43017275 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3408A>T (p.Pro1136=) single nucleotide variant not provided [RCV002078885] Chr6:43043128 [GRCh38]
Chr6:43010866 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2802C>G (p.Leu934=) single nucleotide variant not provided [RCV002150592] Chr6:43045647 [GRCh38]
Chr6:43013385 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3646-11C>T single nucleotide variant not provided [RCV002212255] Chr6:43041086 [GRCh38]
Chr6:43008824 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3038+16C>T single nucleotide variant not provided [RCV002113906] Chr6:43045211 [GRCh38]
Chr6:43012949 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4644G>A (p.Thr1548=) single nucleotide variant not provided [RCV002091173] Chr6:43038396 [GRCh38]
Chr6:43006134 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4668C>T (p.Asp1556=) single nucleotide variant not provided [RCV002170456] Chr6:43038372 [GRCh38]
Chr6:43006110 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3807-19C>T single nucleotide variant not provided [RCV002076421] Chr6:43040765 [GRCh38]
Chr6:43008503 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.804C>T (p.Asn268=) single nucleotide variant not provided [RCV002151858] Chr6:43051397 [GRCh38]
Chr6:43019135 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4774-11C>A single nucleotide variant not provided [RCV002114084] Chr6:43038022 [GRCh38]
Chr6:43005760 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3756C>T (p.Val1252=) single nucleotide variant not provided [RCV002188692] Chr6:43040965 [GRCh38]
Chr6:43008703 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3038+18T>G single nucleotide variant not provided [RCV002210073]|not specified [RCV005419336] Chr6:43045209 [GRCh38]
Chr6:43012947 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2604C>T (p.Asn868=) single nucleotide variant not provided [RCV002124521] Chr6:43046292 [GRCh38]
Chr6:43014030 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2314C>T (p.Leu772=) single nucleotide variant not provided [RCV002165190] Chr6:43046963 [GRCh38]
Chr6:43014701 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4401C>T (p.Thr1467=) single nucleotide variant not provided [RCV002087476] Chr6:43038881 [GRCh38]
Chr6:43006619 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2232G>C (p.Val744=) single nucleotide variant not provided [RCV002179153] Chr6:43047045 [GRCh38]
Chr6:43014783 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2277G>A (p.Leu759=) single nucleotide variant not provided [RCV002154470] Chr6:43047000 [GRCh38]
Chr6:43014738 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.732+14del deletion not provided [RCV002117854] Chr6:43051598 [GRCh38]
Chr6:43019336 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.2979A>G (p.Ala993=) single nucleotide variant not provided [RCV002177676] Chr6:43045286 [GRCh38]
Chr6:43013024 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1651C>T (p.Leu551Phe) single nucleotide variant 3M syndrome 1 [RCV003445146] Chr6:43049581 [GRCh38]
Chr6:43017319 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1089C>T (p.Phe363=) single nucleotide variant not provided [RCV002158764] Chr6:43051112 [GRCh38]
Chr6:43018850 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4446C>A (p.Val1482=) single nucleotide variant not provided [RCV002156956] Chr6:43038687 [GRCh38]
Chr6:43006425 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2307T>C (p.Ala769=) single nucleotide variant not provided [RCV002143878] Chr6:43046970 [GRCh38]
Chr6:43014708 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.2488+16C>T single nucleotide variant not provided [RCV002122732] Chr6:43046495 [GRCh38]
Chr6:43014233 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.159G>A (p.Gly53=) single nucleotide variant not provided [RCV002120026] Chr6:43052630 [GRCh38]
Chr6:43020368 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4252C>T (p.Leu1418=) single nucleotide variant not provided [RCV002219891] Chr6:43040198 [GRCh38]
Chr6:43007936 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2397+11A>G single nucleotide variant not provided [RCV002099627] Chr6:43046869 [GRCh38]
Chr6:43014607 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1372+9_1372+10del deletion not provided [RCV002123377] Chr6:43050250..43050251 [GRCh38]
Chr6:43017988..43017989 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1557C>T (p.Asn519=) single nucleotide variant not provided [RCV002179415] Chr6:43049975 [GRCh38]
Chr6:43017713 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2398-9T>C single nucleotide variant not provided [RCV002183861] Chr6:43046610 [GRCh38]
Chr6:43014348 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.732+16G>A single nucleotide variant not provided [RCV002082114] Chr6:43051596 [GRCh38]
Chr6:43019334 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2334G>A (p.Lys778=) single nucleotide variant not provided [RCV002138162] Chr6:43046943 [GRCh38]
Chr6:43014681 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3463-11C>A single nucleotide variant not provided [RCV002082642] Chr6:43042995 [GRCh38]
Chr6:43010733 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3038+10A>T single nucleotide variant not provided [RCV002176627] Chr6:43045217 [GRCh38]
Chr6:43012955 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4515C>T (p.Leu1505=) single nucleotide variant not provided [RCV002159215] Chr6:43038618 [GRCh38]
Chr6:43006356 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1779C>T (p.Asp593=) single nucleotide variant not provided [RCV002122610] Chr6:43049453 [GRCh38]
Chr6:43017191 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1413T>C (p.Tyr471=) single nucleotide variant not provided [RCV003110825] Chr6:43050119 [GRCh38]
Chr6:43017857 [GRCh37]
Chr6:6p21.1		 likely benign
NC_000006.11:g.(?_41126341)_(43737486_?)dup duplication PRPH2-related disorder [RCV003111022] Chr6:41126341..43737486 [GRCh37]
Chr6:6p21.1		 uncertain significance
NC_000006.11:g.(?_41126341)_(43752536_?)del deletion Peroxisome biogenesis disorder [RCV003110948] Chr6:41126341..43752536 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.4210A>G (p.Ile1404Val) single nucleotide variant not provided [RCV003114811] Chr6:43040240 [GRCh38]
Chr6:43007978 [GRCh37]
Chr6:6p21.1		 uncertain significance
NC_000006.11:g.(?_43005426)_(43008833_?)dup duplication not provided [RCV003116769] Chr6:43005426..43008833 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4108G>A (p.Gly1370Arg) single nucleotide variant not provided [RCV003121891] Chr6:43040342 [GRCh38]
Chr6:43008080 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2359C>T (p.Arg787Cys) single nucleotide variant not provided [RCV003121908] Chr6:43046918 [GRCh38]
Chr6:43014656 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.175_179del (p.Asp59fs) deletion 3M syndrome 1 [RCV004797144] Chr6:43052610..43052614 [GRCh38]
Chr6:43020348..43020352 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.3247del (p.Gln1083fs) deletion 3M syndrome 1 [RCV002254374] Chr6:43043556 [GRCh38]
Chr6:43011294 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.4297C>T (p.Gln1433Ter) single nucleotide variant 3M syndrome 1 [RCV002251130] Chr6:43038985 [GRCh38]
Chr6:43006723 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.2150_2151insA (p.Asn719fs) insertion 3M syndrome 1 [RCV002283812] Chr6:43048166..43048167 [GRCh38]
Chr6:43015904..43015905 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.3000G>A (p.Met1000Ile) single nucleotide variant not specified [RCV002266466] Chr6:43045265 [GRCh38]
Chr6:43013003 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.777T>A (p.His259Gln) single nucleotide variant not specified [RCV002266465] Chr6:43051424 [GRCh38]
Chr6:43019162 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2642G>A (p.Arg881His) single nucleotide variant not provided [RCV002469567] Chr6:43046254 [GRCh38]
Chr6:43013992 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1609A>C (p.Ile537Leu) single nucleotide variant Inborn genetic diseases [RCV002755045]|not provided [RCV002727142] Chr6:43049623 [GRCh38]
Chr6:43017361 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.481A>G (p.Arg161Gly) single nucleotide variant not provided [RCV002304316] Chr6:43052308 [GRCh38]
Chr6:43020046 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3645+7C>T single nucleotide variant not provided [RCV002685910] Chr6:43042795 [GRCh38]
Chr6:43010533 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2397+1G>A single nucleotide variant 3M syndrome 1 [RCV005045011]|not provided [RCV002839151] Chr6:43046879 [GRCh38]
Chr6:43014617 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.2748T>C (p.Leu916=) single nucleotide variant not provided [RCV002994039] Chr6:43046004 [GRCh38]
Chr6:43013742 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3245C>T (p.Pro1082Leu) single nucleotide variant Inborn genetic diseases [RCV002729251] Chr6:43043558 [GRCh38]
Chr6:43011296 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4561C>T (p.Pro1521Ser) single nucleotide variant not provided [RCV002685763] Chr6:43038572 [GRCh38]
Chr6:43006310 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2771dup (p.Asn924fs) duplication not provided [RCV002862421] Chr6:43045677..43045678 [GRCh38]
Chr6:43013415..43013416 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.688C>T (p.Leu230Phe) single nucleotide variant Inborn genetic diseases [RCV002756481]|not provided [RCV002795190] Chr6:43051656 [GRCh38]
Chr6:43019394 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4809_4810insTTCTGCCA (p.Arg1604fs) insertion not provided [RCV003034558] Chr6:43037975..43037976 [GRCh38]
Chr6:43005713..43005714 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3842C>T (p.Ser1281Leu) single nucleotide variant Inborn genetic diseases [RCV002992838] Chr6:43040711 [GRCh38]
Chr6:43008449 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2488+4C>T single nucleotide variant not provided [RCV002947566] Chr6:43046507 [GRCh38]
Chr6:43014245 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2915C>A (p.Thr972Lys) single nucleotide variant not provided [RCV002975015] Chr6:43045350 [GRCh38]
Chr6:43013088 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.108T>C (p.Pro36=) single nucleotide variant not provided [RCV002820002] Chr6:43052681 [GRCh38]
Chr6:43020419 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3467A>G (p.Asn1156Ser) single nucleotide variant not provided [RCV002903946] Chr6:43042980 [GRCh38]
Chr6:43010718 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1233+12_1233+14del deletion not provided [RCV002681363] Chr6:43050954..43050956 [GRCh38]
Chr6:43018692..43018694 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1034C>T (p.Ala345Val) single nucleotide variant Inborn genetic diseases [RCV002754272] Chr6:43051167 [GRCh38]
Chr6:43018905 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2916G>A (p.Thr972=) single nucleotide variant not provided [RCV002971036] Chr6:43045349 [GRCh38]
Chr6:43013087 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4907G>A (p.Arg1636His) single nucleotide variant Inborn genetic diseases [RCV002990091] Chr6:43037878 [GRCh38]
Chr6:43005616 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1331A>T (p.Asp444Val) single nucleotide variant Inborn genetic diseases [RCV002684541]|not provided [RCV004593202] Chr6:43050301 [GRCh38]
Chr6:43018039 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4693A>T (p.Asn1565Tyr) single nucleotide variant not provided [RCV002903672] Chr6:43038347 [GRCh38]
Chr6:43006085 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1183G>A (p.Gly395Arg) single nucleotide variant Inborn genetic diseases [RCV005321263]|not provided [RCV002903324] Chr6:43051018 [GRCh38]
Chr6:43018756 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.735C>A (p.Val245=) single nucleotide variant not provided [RCV002862870] Chr6:43051466 [GRCh38]
Chr6:43019204 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.847G>A (p.Glu283Lys) single nucleotide variant not provided [RCV003015511] Chr6:43051354 [GRCh38]
Chr6:43019092 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2389T>C (p.Cys797Arg) single nucleotide variant Inborn genetic diseases [RCV002840507] Chr6:43046888 [GRCh38]
Chr6:43014626 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3064C>T (p.Gln1022Ter) single nucleotide variant not provided [RCV002953772] Chr6:43044860 [GRCh38]
Chr6:43012598 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.4333C>A (p.Arg1445=) single nucleotide variant not provided [RCV002663124] Chr6:43038949 [GRCh38]
Chr6:43006687 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.944A>G (p.Gln315Arg) single nucleotide variant not provided [RCV002927768] Chr6:43051257 [GRCh38]
Chr6:43018995 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2386G>A (p.Gly796Ser) single nucleotide variant not provided [RCV002795753] Chr6:43046891 [GRCh38]
Chr6:43014629 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3172+7A>G single nucleotide variant not provided [RCV002780930] Chr6:43044745 [GRCh38]
Chr6:43012483 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4440+14G>A single nucleotide variant not provided [RCV002639071] Chr6:43038828 [GRCh38]
Chr6:43006566 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2530del (p.Val844fs) deletion not provided [RCV003037155] Chr6:43046366 [GRCh38]
Chr6:43014104 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.1159G>C (p.Asp387His) single nucleotide variant Inborn genetic diseases [RCV002762072] Chr6:43051042 [GRCh38]
Chr6:43018780 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1882del (p.Tyr628fs) deletion not provided [RCV003021241] Chr6:43048513 [GRCh38]
Chr6:43016251 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.2622C>G (p.His874Gln) single nucleotide variant not provided [RCV002800100] Chr6:43046274 [GRCh38]
Chr6:43014012 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1330G>T (p.Asp444Tyr) single nucleotide variant not provided [RCV002639132] Chr6:43050302 [GRCh38]
Chr6:43018040 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2792G>A (p.Arg931Gln) single nucleotide variant Inborn genetic diseases [RCV002660880] Chr6:43045657 [GRCh38]
Chr6:43013395 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4033G>A (p.Gly1345Arg) single nucleotide variant not provided [RCV003037971] Chr6:43040417 [GRCh38]
Chr6:43008155 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.5029C>T (p.Gln1677Ter) single nucleotide variant not specified [RCV002510409] Chr6:43037756 [GRCh38]
Chr6:43005494 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3645+3A>G single nucleotide variant not provided [RCV002998977] Chr6:43042799 [GRCh38]
Chr6:43010537 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1817A>G (p.Lys606Arg) single nucleotide variant Inborn genetic diseases [RCV002844638] Chr6:43049415 [GRCh38]
Chr6:43017153 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.121C>T (p.Arg41Cys) single nucleotide variant Inborn genetic diseases [RCV004067866]|not provided [RCV002760841] Chr6:43052668 [GRCh38]
Chr6:43020406 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1585A>G (p.Ile529Val) single nucleotide variant Inborn genetic diseases [RCV004068866]|not provided [RCV002591569] Chr6:43049647 [GRCh38]
Chr6:43017385 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.120C>T (p.Ile40=) single nucleotide variant not provided [RCV002662637] Chr6:43052669 [GRCh38]
Chr6:43020407 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4441-16C>T single nucleotide variant not provided [RCV002621779] Chr6:43038708 [GRCh38]
Chr6:43006446 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4951A>C (p.Thr1651Pro) single nucleotide variant Inborn genetic diseases [RCV003058193]|not provided [RCV003037294]|not specified [RCV005059129] Chr6:43037834 [GRCh38]
Chr6:43005572 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3397C>T (p.Arg1133Trp) single nucleotide variant not provided [RCV002636623] Chr6:43043139 [GRCh38]
Chr6:43010877 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.328A>G (p.Met110Val) single nucleotide variant not provided [RCV002695720] Chr6:43052461 [GRCh38]
Chr6:43020199 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2660+16A>C single nucleotide variant not provided [RCV002761212] Chr6:43046220 [GRCh38]
Chr6:43013958 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3946C>T (p.Arg1316Cys) single nucleotide variant Inborn genetic diseases [RCV002999144]|not provided [RCV002983049] Chr6:43040607 [GRCh38]
Chr6:43008345 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2397+18C>T single nucleotide variant not provided [RCV003036919] Chr6:43046862 [GRCh38]
Chr6:43014600 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4955T>C (p.Val1652Ala) single nucleotide variant Inborn genetic diseases [RCV004973717]|not provided [RCV002927632] Chr6:43037830 [GRCh38]
Chr6:43005568 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2127_2129dup (p.Ala710_Cys711insAla) duplication not provided [RCV002620067] Chr6:43048187..43048188 [GRCh38]
Chr6:43015925..43015926 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3645+1G>A single nucleotide variant 3-M syndrome [RCV002510277] Chr6:43042801 [GRCh38]
Chr6:43010539 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.17G>A (p.Arg6His) single nucleotide variant not provided [RCV002927047] Chr6:43052772 [GRCh38]
Chr6:43020510 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4432G>A (p.Asp1478Asn) single nucleotide variant Inborn genetic diseases [RCV004067947]|not provided [RCV002761324] Chr6:43038850 [GRCh38]
Chr6:43006588 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4819G>A (p.Val1607Ile) single nucleotide variant not provided [RCV003079066] Chr6:43037966 [GRCh38]
Chr6:43005704 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1255C>T (p.Arg419Cys) single nucleotide variant not provided [RCV002952440] Chr6:43050377 [GRCh38]
Chr6:43018115 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2766+3A>G single nucleotide variant not provided [RCV002976509] Chr6:43045983 [GRCh38]
Chr6:43013721 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1216G>A (p.Gly406Ser) single nucleotide variant not provided [RCV003082563] Chr6:43050985 [GRCh38]
Chr6:43018723 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3257G>A (p.Gly1086Asp) single nucleotide variant CUL7-related disorder [RCV003420525]|Inborn genetic diseases [RCV002744463] Chr6:43043546 [GRCh38]
Chr6:43011284 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4464G>A (p.Leu1488=) single nucleotide variant not provided [RCV003059295] Chr6:43038669 [GRCh38]
Chr6:43006407 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.867G>A (p.Arg289=) single nucleotide variant not provided [RCV002800992] Chr6:43051334 [GRCh38]
Chr6:43019072 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4139T>C (p.Leu1380Pro) single nucleotide variant not provided [RCV002667054] Chr6:43040311 [GRCh38]
Chr6:43008049 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2027C>G (p.Pro676Arg) single nucleotide variant not provided [RCV002933023] Chr6:43048368 [GRCh38]
Chr6:43016106 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3442C>T (p.Arg1148Trp) single nucleotide variant Inborn genetic diseases [RCV002768100] Chr6:43043094 [GRCh38]
Chr6:43010832 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4729G>A (p.Ala1577Thr) single nucleotide variant not provided [RCV002805510] Chr6:43038311 [GRCh38]
Chr6:43006049 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.260A>G (p.Gln87Arg) single nucleotide variant Inborn genetic diseases [RCV002763460] Chr6:43052529 [GRCh38]
Chr6:43020267 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2398-6C>G single nucleotide variant not provided [RCV002574149] Chr6:43046607 [GRCh38]
Chr6:43014345 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3137T>C (p.Leu1046Pro) single nucleotide variant not provided [RCV002917519] Chr6:43044787 [GRCh38]
Chr6:43012525 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2932C>T (p.Arg978Trp) single nucleotide variant Inborn genetic diseases [RCV003274243]|not provided [RCV003083041] Chr6:43045333 [GRCh38]
Chr6:43013071 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.19T>G (p.Tyr7Asp) single nucleotide variant Inborn genetic diseases [RCV002788048] Chr6:43052770 [GRCh38]
Chr6:43020508 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3045C>T (p.Asn1015=) single nucleotide variant not provided [RCV002574020] Chr6:43044879 [GRCh38]
Chr6:43012617 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.931A>G (p.Met311Val) single nucleotide variant Inborn genetic diseases [RCV002983472] Chr6:43051270 [GRCh38]
Chr6:43019008 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1570-20G>A single nucleotide variant not provided [RCV002876364] Chr6:43049682 [GRCh38]
Chr6:43017420 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.869G>T (p.Gly290Val) single nucleotide variant Inborn genetic diseases [RCV005321178]|not provided [RCV002597061] Chr6:43051332 [GRCh38]
Chr6:43019070 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3300G>A (p.Leu1100=) single nucleotide variant not provided [RCV002596427] Chr6:43043503 [GRCh38]
Chr6:43011241 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.517C>A (p.Pro173Thr) single nucleotide variant not provided [RCV002985344] Chr6:43052272 [GRCh38]
Chr6:43020010 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2851C>T (p.Arg951Cys) single nucleotide variant Inborn genetic diseases [RCV003084271]|not provided [RCV003088438] Chr6:43045598 [GRCh38]
Chr6:43013336 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2881A>T (p.Ile961Phe) single nucleotide variant not provided [RCV003022235] Chr6:43045384 [GRCh38]
Chr6:43013122 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1613A>C (p.Glu538Ala) single nucleotide variant Inborn genetic diseases [RCV002809432] Chr6:43049619 [GRCh38]
Chr6:43017357 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3979G>C (p.Asp1327His) single nucleotide variant not provided [RCV002812139] Chr6:43040574 [GRCh38]
Chr6:43008312 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2638A>G (p.Met880Val) single nucleotide variant not provided [RCV002581919] Chr6:43046258 [GRCh38]
Chr6:43013996 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4079G>A (p.Gly1360Glu) single nucleotide variant Inborn genetic diseases [RCV002896960] Chr6:43040371 [GRCh38]
Chr6:43008109 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4774-10C>G single nucleotide variant not provided [RCV002582099] Chr6:43038021 [GRCh38]
Chr6:43005759 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3580T>C (p.Leu1194=) single nucleotide variant not provided [RCV002602845] Chr6:43042867 [GRCh38]
Chr6:43010605 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1372+14G>A single nucleotide variant not provided [RCV002966794] Chr6:43050246 [GRCh38]
Chr6:43017984 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1319T>G (p.Met440Arg) single nucleotide variant not provided [RCV002937142] Chr6:43050313 [GRCh38]
Chr6:43018051 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2489-5C>T single nucleotide variant not provided [RCV002602436] Chr6:43046412 [GRCh38]
Chr6:43014150 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4780dup (p.Glu1594fs) duplication not provided [RCV002835289] Chr6:43038004..43038005 [GRCh38]
Chr6:43005742..43005743 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.2492C>T (p.Ser831Phe) single nucleotide variant not provided [RCV002962007] Chr6:43046404 [GRCh38]
Chr6:43014142 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1913del (p.Leu638fs) deletion not provided [RCV003061556] Chr6:43048482 [GRCh38]
Chr6:43016220 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.4917C>T (p.Asp1639=) single nucleotide variant CUL7-related disorder [RCV003971329]|not provided [RCV002600421] Chr6:43037868 [GRCh38]
Chr6:43005606 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4774-18dup duplication not provided [RCV002856345] Chr6:43038028..43038029 [GRCh38]
Chr6:43005766..43005767 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1826-16T>C single nucleotide variant not provided [RCV002716009] Chr6:43048585 [GRCh38]
Chr6:43016323 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1876G>T (p.Glu626Ter) single nucleotide variant not provided [RCV002922172] Chr6:43048519 [GRCh38]
Chr6:43016257 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.416A>C (p.His139Pro) single nucleotide variant not provided [RCV002715478] Chr6:43052373 [GRCh38]
Chr6:43020111 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.109G>A (p.Glu37Lys) single nucleotide variant not provided [RCV003010020] Chr6:43052680 [GRCh38]
Chr6:43020418 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.661C>T (p.Leu221=) single nucleotide variant not provided [RCV003061023] Chr6:43051683 [GRCh38]
Chr6:43019421 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3410G>A (p.Ser1137Asn) single nucleotide variant Inborn genetic diseases [RCV002631998]|not provided [RCV002631999] Chr6:43043126 [GRCh38]
Chr6:43010864 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.85C>T (p.Arg29Cys) single nucleotide variant not provided [RCV003086738] Chr6:43052704 [GRCh38]
Chr6:43020442 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4138C>T (p.Leu1380Phe) single nucleotide variant not provided [RCV003027211] Chr6:43040312 [GRCh38]
Chr6:43008050 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3038+19G>A single nucleotide variant not provided [RCV002578507] Chr6:43045208 [GRCh38]
Chr6:43012946 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3877G>A (p.Gly1293Ser) single nucleotide variant not provided [RCV002578208] Chr6:43040676 [GRCh38]
Chr6:43008414 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4289A>G (p.Asn1430Ser) single nucleotide variant not provided [RCV002597607] Chr6:43040161 [GRCh38]
Chr6:43007899 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3148G>A (p.Val1050Met) single nucleotide variant not provided [RCV002577469] Chr6:43044776 [GRCh38]
Chr6:43012514 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3254G>A (p.Arg1085His) single nucleotide variant not provided [RCV002648187] Chr6:43043549 [GRCh38]
Chr6:43011287 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2488+15C>G single nucleotide variant not provided [RCV003011595] Chr6:43046496 [GRCh38]
Chr6:43014234 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.78C>T (p.Ile26=) single nucleotide variant not provided [RCV003087199] Chr6:43052711 [GRCh38]
Chr6:43020449 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2661-9C>A single nucleotide variant not provided [RCV002646694] Chr6:43046100 [GRCh38]
Chr6:43013838 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4568-18_4568-16dup duplication not provided [RCV003063712] Chr6:43038487..43038488 [GRCh38]
Chr6:43006225..43006226 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3995A>C (p.Lys1332Thr) single nucleotide variant Inborn genetic diseases [RCV004070579]|not provided [RCV002628376] Chr6:43040558 [GRCh38]
Chr6:43008296 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4518C>G (p.Thr1506=) single nucleotide variant not provided [RCV002653699] Chr6:43038615 [GRCh38]
Chr6:43006353 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2978C>T (p.Ala993Val) single nucleotide variant not provided [RCV002585642] Chr6:43045287 [GRCh38]
Chr6:43013025 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3046G>A (p.Gly1016Ser) single nucleotide variant 3M syndrome 1 [RCV004720378]|Inborn genetic diseases [RCV003294440]|not provided [RCV003067388]|not specified [RCV005239631] Chr6:43044878 [GRCh38]
Chr6:43012616 [GRCh37]
Chr6:6p21.1		 likely benign|uncertain significance
NM_014780.5(CUL7):c.3079C>T (p.Arg1027Cys) single nucleotide variant not provided [RCV002582764] Chr6:43044845 [GRCh38]
Chr6:43012583 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4402G>A (p.Val1468Met) single nucleotide variant not provided [RCV002603659] Chr6:43038880 [GRCh38]
Chr6:43006618 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4430A>G (p.Asn1477Ser) single nucleotide variant not provided [RCV002586825] Chr6:43038852 [GRCh38]
Chr6:43006590 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2121C>T (p.Ala707=) single nucleotide variant not provided [RCV002583640] Chr6:43048196 [GRCh38]
Chr6:43015934 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1582G>A (p.Glu528Lys) single nucleotide variant not provided [RCV002606786] Chr6:43049650 [GRCh38]
Chr6:43017388 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3665G>A (p.Arg1222Gln) single nucleotide variant not provided [RCV003073475] Chr6:43041056 [GRCh38]
Chr6:43008794 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3581T>C (p.Leu1194Ser) single nucleotide variant not provided [RCV002612976] Chr6:43042866 [GRCh38]
Chr6:43010604 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.5093G>T (p.Arg1698Leu) single nucleotide variant not provided [RCV002653012] Chr6:43037692 [GRCh38]
Chr6:43005430 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3147C>T (p.Pro1049=) single nucleotide variant not provided [RCV002607581] Chr6:43044777 [GRCh38]
Chr6:43012515 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4008A>C (p.Thr1336=) single nucleotide variant not provided [RCV003069658] Chr6:43040545 [GRCh38]
Chr6:43008283 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3267C>G (p.Phe1089Leu) single nucleotide variant not provided [RCV002604924] Chr6:43043536 [GRCh38]
Chr6:43011274 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.792G>A (p.Leu264=) single nucleotide variant not provided [RCV002589445] Chr6:43051409 [GRCh38]
Chr6:43019147 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4483G>A (p.Ala1495Thr) single nucleotide variant not provided [RCV002633172] Chr6:43038650 [GRCh38]
Chr6:43006388 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4024-16C>G single nucleotide variant not provided [RCV002608904] Chr6:43040442 [GRCh38]
Chr6:43008180 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2300A>G (p.Glu767Gly) single nucleotide variant Inborn genetic diseases [RCV003256783] Chr6:43046977 [GRCh38]
Chr6:43014715 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.5029_5030del (p.Gln1677fs) deletion 3M syndrome 1 [RCV003145930] Chr6:43037755..43037756 [GRCh38]
Chr6:43005493..43005494 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4184C>T (p.Ser1395Phe) single nucleotide variant Inborn genetic diseases [RCV003211057] Chr6:43040266 [GRCh38]
Chr6:43008004 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2288T>C (p.Leu763Pro) single nucleotide variant Inborn genetic diseases [RCV003191478] Chr6:43046989 [GRCh38]
Chr6:43014727 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.5029C>A (p.Gln1677Lys) single nucleotide variant Inborn genetic diseases [RCV003212296] Chr6:43037756 [GRCh38]
Chr6:43005494 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.-109C>T single nucleotide variant not provided [RCV003159464] Chr6:43053722 [GRCh38]
Chr6:43021460 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3499G>T (p.Asp1167Tyr) single nucleotide variant Inborn genetic diseases [RCV003208771] Chr6:43042948 [GRCh38]
Chr6:43010686 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.163T>C (p.Ser55Pro) single nucleotide variant Inborn genetic diseases [RCV003218358] Chr6:43052626 [GRCh38]
Chr6:43020364 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1569+76G>C single nucleotide variant 3M syndrome 1 [RCV003145931] Chr6:43049887 [GRCh38]
Chr6:43017625 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2495G>A (p.Ser832Asn) single nucleotide variant Inborn genetic diseases [RCV003308683] Chr6:43046401 [GRCh38]
Chr6:43014139 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.390C>T (p.Gly130=) single nucleotide variant not specified [RCV004586046] Chr6:43052399 [GRCh38]
Chr6:43020137 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4651C>T (p.Gln1551Ter) single nucleotide variant 3M syndrome 1 [RCV003330292] Chr6:43038389 [GRCh38]
Chr6:43006127 [GRCh37]
Chr6:6p21.1		 pathogenic|conflicting interpretations of pathogenicity
NM_014780.5(CUL7):c.1563_1569+5del deletion 3M syndrome 1 [RCV003337722] Chr6:43049958..43049969 [GRCh38]
Chr6:43017696..43017707 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.2558C>G (p.Ala853Gly) single nucleotide variant Inborn genetic diseases [RCV003359641] Chr6:43046338 [GRCh38]
Chr6:43014076 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3779T>C (p.Ile1260Thr) single nucleotide variant Inborn genetic diseases [RCV003378486] Chr6:43040942 [GRCh38]
Chr6:43008680 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3173A>G (p.Asp1058Gly) single nucleotide variant Inborn genetic diseases [RCV003364577] Chr6:43043630 [GRCh38]
Chr6:43011368 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1737C>T (p.Tyr579=) single nucleotide variant not provided [RCV003570099] Chr6:43049495 [GRCh38]
Chr6:43017233 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2475A>G (p.Arg825=) single nucleotide variant not provided [RCV003874940] Chr6:43046524 [GRCh38]
Chr6:43014262 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1182C>T (p.Ala394=) single nucleotide variant not provided [RCV003874249] Chr6:43051019 [GRCh38]
Chr6:43018757 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.167G>T (p.Gly56Val) single nucleotide variant 3M syndrome 1 [RCV003486050] Chr6:43052622 [GRCh38]
Chr6:43020360 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2955A>G (p.Thr985=) single nucleotide variant not provided [RCV003543100] Chr6:43045310 [GRCh38]
Chr6:43013048 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.278A>T (p.Gln93Leu) single nucleotide variant Inborn genetic diseases [RCV004364612]|not provided [RCV003428856] Chr6:43052511 [GRCh38]
Chr6:43020249 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1838del (p.Pro613fs) deletion 3M syndrome 1 [RCV003388660] Chr6:43048557 [GRCh38]
Chr6:43016295 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.97G>A (p.Asp33Asn) single nucleotide variant CUL7-related disorder [RCV003408512] Chr6:43052692 [GRCh38]
Chr6:43020430 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3991_3992del (p.Leu1331fs) deletion 3-M syndrome [RCV003405083]|not provided [RCV003669419] Chr6:43040561..43040562 [GRCh38]
Chr6:43008299..43008300 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.1090G>A (p.Ala364Thr) single nucleotide variant not provided [RCV003431869] Chr6:43051111 [GRCh38]
Chr6:43018849 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.973C>T (p.Arg325Trp) single nucleotide variant Inborn genetic diseases [RCV004364611]|not provided [RCV003428855] Chr6:43051228 [GRCh38]
Chr6:43018966 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2661-20T>G single nucleotide variant not provided [RCV003693328] Chr6:43046111 [GRCh38]
Chr6:43013849 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3039-5C>T single nucleotide variant not provided [RCV003829511] Chr6:43044890 [GRCh38]
Chr6:43012628 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3525C>T (p.His1175=) single nucleotide variant not provided [RCV003578602] Chr6:43042922 [GRCh38]
Chr6:43010660 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2616C>T (p.Gly872=) single nucleotide variant not provided [RCV003573207] Chr6:43046280 [GRCh38]
Chr6:43014018 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1022G>C (p.Gly341Ala) single nucleotide variant not provided [RCV003660346] Chr6:43051179 [GRCh38]
Chr6:43018917 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3246C>T (p.Pro1082=) single nucleotide variant not provided [RCV003661236] Chr6:43043557 [GRCh38]
Chr6:43011295 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2142_2161del (p.Cys714_Asp721delinsTer) deletion not provided [RCV003715166] Chr6:43048156..43048175 [GRCh38]
Chr6:43015894..43015913 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.78C>A (p.Ile26=) single nucleotide variant not provided [RCV003830587] Chr6:43052711 [GRCh38]
Chr6:43020449 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.882G>A (p.Leu294=) single nucleotide variant not provided [RCV003578414] Chr6:43051319 [GRCh38]
Chr6:43019057 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.51C>A (p.Gly17=) single nucleotide variant not provided [RCV003687131] Chr6:43052738 [GRCh38]
Chr6:43020476 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3573A>C (p.Ala1191=) single nucleotide variant not provided [RCV003830121] Chr6:43042874 [GRCh38]
Chr6:43010612 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3463-1G>T single nucleotide variant not provided [RCV003687995] Chr6:43042985 [GRCh38]
Chr6:43010723 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.4355G>A (p.Gly1452Asp) single nucleotide variant not specified [RCV003490841] Chr6:43038927 [GRCh38]
Chr6:43006665 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1072C>T (p.Arg358Cys) single nucleotide variant not provided [RCV003825267] Chr6:43051129 [GRCh38]
Chr6:43018867 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1826-15_1826-14del deletion not provided [RCV003690426] Chr6:43048583..43048584 [GRCh38]
Chr6:43016321..43016322 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.890G>C (p.Ser297Thr) single nucleotide variant not provided [RCV003829830] Chr6:43051311 [GRCh38]
Chr6:43019049 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2767-7dup duplication not provided [RCV003579057] Chr6:43045688..43045689 [GRCh38]
Chr6:43013426..43013427 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.3579C>T (p.Phe1193=) single nucleotide variant not provided [RCV003828035] Chr6:43042868 [GRCh38]
Chr6:43010606 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2757A>G (p.Glu919=) single nucleotide variant not provided [RCV003876915] Chr6:43045995 [GRCh38]
Chr6:43013733 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2592T>C (p.Tyr864=) single nucleotide variant not provided [RCV003882568] Chr6:43046304 [GRCh38]
Chr6:43014042 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.258C>T (p.Gly86=) single nucleotide variant not provided [RCV003714767] Chr6:43052531 [GRCh38]
Chr6:43020269 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.655del (p.Cys219fs) deletion not provided [RCV003549795] Chr6:43051689 [GRCh38]
Chr6:43019427 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.244C>T (p.Leu82=) single nucleotide variant not provided [RCV003717808] Chr6:43052545 [GRCh38]
Chr6:43020283 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2863-20T>C single nucleotide variant not provided [RCV003664288] Chr6:43045422 [GRCh38]
Chr6:43013160 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2766+17A>G single nucleotide variant not provided [RCV003811320] Chr6:43045969 [GRCh38]
Chr6:43013707 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1758A>G (p.Gln586=) single nucleotide variant not provided [RCV003674198] Chr6:43049474 [GRCh38]
Chr6:43017212 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.-157C>T single nucleotide variant not specified [RCV003995147] Chr6:43053770 [GRCh38]
Chr6:43021508 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2613C>T (p.Ala871=) single nucleotide variant not provided [RCV003856672] Chr6:43046283 [GRCh38]
Chr6:43014021 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1870C>T (p.Leu624=) single nucleotide variant not provided [RCV003814930] Chr6:43048525 [GRCh38]
Chr6:43016263 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1531G>A (p.Glu511Lys) single nucleotide variant not provided [RCV003854317] Chr6:43050001 [GRCh38]
Chr6:43017739 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.733-16A>C single nucleotide variant not provided [RCV003664046] Chr6:43051484 [GRCh38]
Chr6:43019222 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1989G>A (p.Pro663=) single nucleotide variant not provided [RCV003668074] Chr6:43048406 [GRCh38]
Chr6:43016144 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2729dup (p.Gly910_Asp911insTer) duplication not provided [RCV003669038] Chr6:43046022..43046023 [GRCh38]
Chr6:43013760..43013761 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.4440+10C>T single nucleotide variant not provided [RCV003697922] Chr6:43038832 [GRCh38]
Chr6:43006570 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3075T>C (p.Ala1025=) single nucleotide variant not provided [RCV003836520] Chr6:43044849 [GRCh38]
Chr6:43012587 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2409C>T (p.Gly803=) single nucleotide variant not provided [RCV003664733] Chr6:43046590 [GRCh38]
Chr6:43014328 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1269G>T (p.Val423=) single nucleotide variant not provided [RCV003730607] Chr6:43050363 [GRCh38]
Chr6:43018101 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3024G>A (p.Leu1008=) single nucleotide variant not provided [RCV003859793] Chr6:43045241 [GRCh38]
Chr6:43012979 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4774-8C>T single nucleotide variant not provided [RCV003819673] Chr6:43038019 [GRCh38]
Chr6:43005757 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3543C>T (p.Asn1181=) single nucleotide variant not provided [RCV003729364] Chr6:43042904 [GRCh38]
Chr6:43010642 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4365G>T (p.Glu1455Asp) single nucleotide variant not provided [RCV003846813] Chr6:43038917 [GRCh38]
Chr6:43006655 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4206C>T (p.Ala1402=) single nucleotide variant not provided [RCV003681360] Chr6:43040244 [GRCh38]
Chr6:43007982 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.627T>C (p.Ile209=) single nucleotide variant not provided [RCV003681383] Chr6:43051717 [GRCh38]
Chr6:43019455 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4179C>T (p.Val1393=) single nucleotide variant not provided [RCV003729213] Chr6:43040271 [GRCh38]
Chr6:43008009 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4767C>T (p.Val1589=) single nucleotide variant not provided [RCV003858099] Chr6:43038273 [GRCh38]
Chr6:43006011 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.5011C>A (p.Leu1671Ile) single nucleotide variant not provided [RCV003710063] Chr6:43037774 [GRCh38]
Chr6:43005512 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1569+17G>A single nucleotide variant not provided [RCV003681651] Chr6:43049946 [GRCh38]
Chr6:43017684 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4024-10G>C single nucleotide variant not provided [RCV003711956] Chr6:43040436 [GRCh38]
Chr6:43008174 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3979G>T (p.Asp1327Tyr) single nucleotide variant not provided [RCV003867632] Chr6:43040574 [GRCh38]
Chr6:43008312 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4302C>T (p.Ser1434=) single nucleotide variant not provided [RCV003564080] Chr6:43038980 [GRCh38]
Chr6:43006718 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3168C>T (p.Ser1056=) single nucleotide variant not provided [RCV003721681] Chr6:43044756 [GRCh38]
Chr6:43012494 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1197G>T (p.Glu399Asp) single nucleotide variant not provided [RCV003678100] Chr6:43051004 [GRCh38]
Chr6:43018742 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1137G>A (p.Pro379=) single nucleotide variant not provided [RCV003721770] Chr6:43051064 [GRCh38]
Chr6:43018802 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2397+18C>G single nucleotide variant not provided [RCV003684942] Chr6:43046862 [GRCh38]
Chr6:43014600 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1002G>A (p.Gln334=) single nucleotide variant not provided [RCV003719934] Chr6:43051199 [GRCh38]
Chr6:43018937 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4725C>T (p.Leu1575=) single nucleotide variant not provided [RCV003869805] Chr6:43038315 [GRCh38]
Chr6:43006053 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.816G>A (p.Ala272=) single nucleotide variant CUL7-related disorder [RCV003941382]|not provided [RCV005064821] Chr6:43051385 [GRCh38]
Chr6:43019123 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1274G>A (p.Trp425Ter) single nucleotide variant not provided [RCV003870103] Chr6:43050358 [GRCh38]
Chr6:43018096 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.3136del (p.Leu1046fs) deletion not provided [RCV003555253] Chr6:43044788 [GRCh38]
Chr6:43012526 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.4024-15C>T single nucleotide variant not provided [RCV003542888] Chr6:43040441 [GRCh38]
Chr6:43008179 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.355C>A (p.Gln119Lys) single nucleotide variant not provided [RCV003842291] Chr6:43052434 [GRCh38]
Chr6:43020172 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1372+13A>G single nucleotide variant not provided [RCV003824373] Chr6:43050247 [GRCh38]
Chr6:43017985 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.699C>T (p.His233=) single nucleotide variant not provided [RCV003550697] Chr6:43051645 [GRCh38]
Chr6:43019383 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1988C>T (p.Pro663Leu) single nucleotide variant Inborn genetic diseases [RCV004375258] Chr6:43048407 [GRCh38]
Chr6:43016145 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2822T>G (p.Phe941Cys) single nucleotide variant Inborn genetic diseases [RCV004375259] Chr6:43045627 [GRCh38]
Chr6:43013365 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.329T>G (p.Met110Arg) single nucleotide variant Inborn genetic diseases [RCV004375261] Chr6:43052460 [GRCh38]
Chr6:43020198 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3706G>T (p.Ala1236Ser) single nucleotide variant Inborn genetic diseases [RCV004375263] Chr6:43041015 [GRCh38]
Chr6:43008753 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3797A>G (p.His1266Arg) single nucleotide variant Inborn genetic diseases [RCV004375264] Chr6:43040924 [GRCh38]
Chr6:43008662 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4618A>G (p.Ile1540Val) single nucleotide variant Inborn genetic diseases [RCV004375268] Chr6:43038422 [GRCh38]
Chr6:43006160 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.791T>G (p.Leu264Arg) single nucleotide variant Inborn genetic diseases [RCV004375270] Chr6:43051410 [GRCh38]
Chr6:43019148 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3398G>A (p.Arg1133Gln) single nucleotide variant CUL7-related disorder [RCV003902024] Chr6:43043138 [GRCh38]
Chr6:43010876 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.617AAG[1] (p.Glu207del) microsatellite 3M syndrome 1 [RCV003991875] Chr6:43051722..43051724 [GRCh38]
Chr6:43019460..43019462 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1058G>A (p.Arg353Lys) single nucleotide variant Inborn genetic diseases [RCV004375255] Chr6:43051143 [GRCh38]
Chr6:43018881 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4718G>A (p.Arg1573Gln) single nucleotide variant Inborn genetic diseases [RCV004375269] Chr6:43038322 [GRCh38]
Chr6:43006060 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1109C>T (p.Ala370Val) single nucleotide variant Inborn genetic diseases [RCV004375256] Chr6:43051092 [GRCh38]
Chr6:43018830 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4225A>G (p.Asn1409Asp) single nucleotide variant Inborn genetic diseases [RCV004375265] Chr6:43040225 [GRCh38]
Chr6:43007963 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4234A>G (p.Thr1412Ala) single nucleotide variant Inborn genetic diseases [RCV004375266] Chr6:43040216 [GRCh38]
Chr6:43007954 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2875dup (p.Thr959fs) duplication 3M syndrome 1 [RCV004556173] Chr6:43045389..43045390 [GRCh38]
Chr6:43013127..43013128 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.4774-6C>T single nucleotide variant CUL7-related disorder [RCV003944722] Chr6:43038017 [GRCh38]
Chr6:43005755 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.711C>T (p.Phe237=) single nucleotide variant CUL7-related disorder [RCV003982263] Chr6:43051633 [GRCh38]
Chr6:43019371 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.123T>C (p.Arg41=) single nucleotide variant CUL7-related disorder [RCV003964735] Chr6:43052666 [GRCh38]
Chr6:43020404 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4617C>T (p.Asp1539=) single nucleotide variant CUL7-related disorder [RCV003964743]|not provided [RCV005064910] Chr6:43038423 [GRCh38]
Chr6:43006161 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3645+34C>A single nucleotide variant CUL7-related disorder [RCV003973927] Chr6:43042768 [GRCh38]
Chr6:43010506 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.789C>A (p.Leu263=) single nucleotide variant CUL7-related disorder [RCV003964258] Chr6:43051412 [GRCh38]
Chr6:43019150 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2863-1G>C single nucleotide variant 3M syndrome 1 [RCV003988791] Chr6:43045403 [GRCh38]
Chr6:43013141 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.2877G>A (p.Thr959=) single nucleotide variant CUL7-related disorder [RCV003977001] Chr6:43045388 [GRCh38]
Chr6:43013126 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2398-2A>G single nucleotide variant 3-M syndrome [RCV003988477]|not provided [RCV005064932] Chr6:43046603 [GRCh38]
Chr6:43014341 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.1672G>A (p.Asp558Asn) single nucleotide variant Inborn genetic diseases [RCV004375257] Chr6:43049560 [GRCh38]
Chr6:43017298 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1972C>T (p.Gln658Ter) single nucleotide variant 3M syndrome 1 [RCV004720617] Chr6:43048423 [GRCh38]
Chr6:43016161 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.2765C>T (p.Ser922Leu) single nucleotide variant Inborn genetic diseases [RCV004616109] Chr6:43045987 [GRCh38]
Chr6:43013725 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.364C>G (p.Leu122Val) single nucleotide variant Inborn genetic diseases [RCV004616112] Chr6:43052425 [GRCh38]
Chr6:43020163 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2213_2235del (p.Val738fs) deletion 3M syndrome 1 [RCV004596680] Chr6:43047042..43047064 [GRCh38]
Chr6:43014780..43014802 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.4142A>G (p.Tyr1381Cys) single nucleotide variant Inborn genetic diseases [RCV004616108] Chr6:43040308 [GRCh38]
Chr6:43008046 [GRCh37]
Chr6:6p21.1		 uncertain significance
NC_000006.11:g.(?_43007874)_(43008184_?)del deletion not provided [RCV004578863] Chr6:43007874..43008184 [GRCh37]
Chr6:6p21.1		 pathogenic
NC_000006.11:g.(?_43008382)_(43008663_?)del deletion not provided [RCV004578864] Chr6:43008382..43008663 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4186C>G (p.Arg1396Gly) single nucleotide variant Inborn genetic diseases [RCV004616107] Chr6:43040264 [GRCh38]
Chr6:43008002 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.5009C>T (p.Pro1670Leu) single nucleotide variant Inborn genetic diseases [RCV004616111] Chr6:43037776 [GRCh38]
Chr6:43005514 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3908A>G (p.Gln1303Arg) single nucleotide variant Inborn genetic diseases [RCV004616113] Chr6:43040645 [GRCh38]
Chr6:43008383 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4624C>T (p.Arg1542Trp) single nucleotide variant Inborn genetic diseases [RCV004616106]|not specified [RCV004701923] Chr6:43038416 [GRCh38]
Chr6:43006154 [GRCh37]
Chr6:6p21.1		 likely benign|uncertain significance
NM_014780.5(CUL7):c.2299G>A (p.Glu767Lys) single nucleotide variant Inborn genetic diseases [RCV004616110] Chr6:43046978 [GRCh38]
Chr6:43014716 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2836C>T (p.Gln946Ter) single nucleotide variant 3M syndrome 1 [RCV004799138] Chr6:43045613 [GRCh38]
Chr6:43013351 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.2725G>A (p.Gly909Arg) single nucleotide variant not specified [RCV004766704] Chr6:43046027 [GRCh38]
Chr6:43013765 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.354del (p.Gln119fs) deletion 3M syndrome 1 [RCV004797145] Chr6:43052435 [GRCh38]
Chr6:43020173 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.920_929del (p.Leu307fs) deletion 3M syndrome 1 [RCV004775649] Chr6:43051272..43051281 [GRCh38]
Chr6:43019010..43019019 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.2243del (p.Gln748fs) deletion 3M syndrome 1 [RCV005045691] Chr6:43047034 [GRCh38]
Chr6:43014772 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.1116T>G (p.Tyr372Ter) single nucleotide variant 3M syndrome 1 [RCV005045692] Chr6:43051085 [GRCh38]
Chr6:43018823 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.2939A>G (p.Gln980Arg) single nucleotide variant Inborn genetic diseases [RCV004981364] Chr6:43045326 [GRCh38]
Chr6:43013064 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1874T>C (p.Val625Ala) single nucleotide variant Inborn genetic diseases [RCV004981365] Chr6:43048521 [GRCh38]
Chr6:43016259 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.372G>C (p.Gln124His) single nucleotide variant Inborn genetic diseases [RCV004981366] Chr6:43052417 [GRCh38]
Chr6:43020155 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.737C>T (p.Pro246Leu) single nucleotide variant Inborn genetic diseases [RCV004981369] Chr6:43051464 [GRCh38]
Chr6:43019202 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3716T>C (p.Met1239Thr) single nucleotide variant Inborn genetic diseases [RCV004981368] Chr6:43041005 [GRCh38]
Chr6:43008743 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2030A>C (p.Glu677Ala) single nucleotide variant Inborn genetic diseases [RCV004981371] Chr6:43048365 [GRCh38]
Chr6:43016103 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4036G>T (p.Ala1346Ser) single nucleotide variant Inborn genetic diseases [RCV004981373] Chr6:43040414 [GRCh38]
Chr6:43008152 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4906C>T (p.Arg1636Cys) single nucleotide variant Inborn genetic diseases [RCV004981360] Chr6:43037879 [GRCh38]
Chr6:43005617 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3722G>A (p.Arg1241Lys) single nucleotide variant Inborn genetic diseases [RCV004981370] Chr6:43040999 [GRCh38]
Chr6:43008737 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3025C>T (p.His1009Tyr) single nucleotide variant Inborn genetic diseases [RCV004981372] Chr6:43045240 [GRCh38]
Chr6:43012978 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4023+1G>T single nucleotide variant 3M syndrome 1 [RCV005045688] Chr6:43040529 [GRCh38]
Chr6:43008267 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.4021C>T (p.Gln1341Ter) single nucleotide variant 3M syndrome 1 [RCV005045689] Chr6:43040532 [GRCh38]
Chr6:43008270 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.4949T>C (p.Val1650Ala) single nucleotide variant Inborn genetic diseases [RCV004981362] Chr6:43037836 [GRCh38]
Chr6:43005574 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4171G>A (p.Val1391Met) single nucleotide variant Inborn genetic diseases [RCV004981367] Chr6:43040279 [GRCh38]
Chr6:43008017 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3217C>G (p.Leu1073Val) single nucleotide variant Inborn genetic diseases [RCV004981359] Chr6:43043586 [GRCh38]
Chr6:43011324 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.436G>A (p.Ala146Thr) single nucleotide variant Inborn genetic diseases [RCV004981361] Chr6:43052353 [GRCh38]
Chr6:43020091 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2296C>G (p.Leu766Val) single nucleotide variant Inborn genetic diseases [RCV004981358] Chr6:43046981 [GRCh38]
Chr6:43014719 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.977C>A (p.Ser326Tyr) single nucleotide variant Inborn genetic diseases [RCV004981363] Chr6:43051224 [GRCh38]
Chr6:43018962 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2925A>C (p.Pro975=) single nucleotide variant not provided [RCV005175727] Chr6:43045340 [GRCh38]
Chr6:43013078 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2862+20G>C single nucleotide variant not provided [RCV005087240] Chr6:43045567 [GRCh38]
Chr6:43013305 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.291G>A (p.Gly97=) single nucleotide variant not provided [RCV005066291] Chr6:43052498 [GRCh38]
Chr6:43020236 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4533C>T (p.Pro1511=) single nucleotide variant not provided [RCV005173517] Chr6:43038600 [GRCh38]
Chr6:43006338 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1944G>A (p.Gln648=) single nucleotide variant not provided [RCV005066400] Chr6:43048451 [GRCh38]
Chr6:43016189 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.267C>T (p.Ile89=) single nucleotide variant not provided [RCV005087293] Chr6:43052522 [GRCh38]
Chr6:43020260 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4563A>G (p.Pro1521=) single nucleotide variant not provided [RCV005084789] Chr6:43038570 [GRCh38]
Chr6:43006308 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.129C>T (p.Leu43=) single nucleotide variant not provided [RCV005170570] Chr6:43052660 [GRCh38]
Chr6:43020398 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3806+11A>G single nucleotide variant not provided [RCV005089090] Chr6:43040904 [GRCh38]
Chr6:43008642 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3159C>T (p.Asn1053=) single nucleotide variant not provided [RCV005145185] Chr6:43044765 [GRCh38]
Chr6:43012503 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.762G>A (p.Val254=) single nucleotide variant not provided [RCV005171453] Chr6:43051439 [GRCh38]
Chr6:43019177 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2954C>G (p.Thr985Arg) single nucleotide variant not provided [RCV005065221] Chr6:43045311 [GRCh38]
Chr6:43013049 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2398-11T>C single nucleotide variant not provided [RCV005086936] Chr6:43046612 [GRCh38]
Chr6:43014350 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1066C>T (p.Arg356Cys) single nucleotide variant not specified [RCV005088491] Chr6:43051135 [GRCh38]
Chr6:43018873 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3987A>G (p.Glu1329=) single nucleotide variant not provided [RCV005085573] Chr6:43040566 [GRCh38]
Chr6:43008304 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4369C>T (p.Gln1457Ter) single nucleotide variant 3M syndrome 1 [RCV005039772] Chr6:43038913 [GRCh38]
Chr6:43006651 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.3924_3931del (p.Leu1308_Ser1309insTer) deletion 3M syndrome 1 [RCV005039774] Chr6:43040622..43040629 [GRCh38]
Chr6:43008360..43008367 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.4875C>T (p.Ile1625=) single nucleotide variant not provided [RCV005075723] Chr6:43037910 [GRCh38]
Chr6:43005648 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2673G>A (p.Leu891=) single nucleotide variant not provided [RCV005185629] Chr6:43046079 [GRCh38]
Chr6:43013817 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4568-19T>C single nucleotide variant not provided [RCV005160876] Chr6:43038491 [GRCh38]
Chr6:43006229 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3991C>T (p.Leu1331=) single nucleotide variant not provided [RCV005125088] Chr6:43040562 [GRCh38]
Chr6:43008300 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3519_3538del (p.Cys1173_Gln1180delinsTer) deletion 3M syndrome 1 [RCV005230779] Chr6:43042909..43042928 [GRCh38]
Chr6:43010647..43010666 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.2706G>A (p.Pro902=) single nucleotide variant not provided [RCV005191472] Chr6:43046046 [GRCh38]
Chr6:43013784 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3807-20C>G single nucleotide variant not provided [RCV005127659] Chr6:43040766 [GRCh38]
Chr6:43008504 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4176T>C (p.Leu1392=) single nucleotide variant not provided [RCV005187159] Chr6:43040274 [GRCh38]
Chr6:43008012 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2556G>A (p.Arg852=) single nucleotide variant not provided [RCV005205562] Chr6:43046340 [GRCh38]
Chr6:43014078 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.616C>G (p.Gln206Glu) single nucleotide variant not provided [RCV005078048] Chr6:43051728 [GRCh38]
Chr6:43019466 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3117C>T (p.Gly1039=) single nucleotide variant 3M syndrome 1 [RCV005417496]|not provided [RCV005071367] Chr6:43044807 [GRCh38]
Chr6:43012545 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3807-16G>A single nucleotide variant not provided [RCV005076946] Chr6:43040762 [GRCh38]
Chr6:43008500 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4024-14C>T single nucleotide variant not provided [RCV005075293] Chr6:43040440 [GRCh38]
Chr6:43008178 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.732+13G>T single nucleotide variant not provided [RCV005133331] Chr6:43051599 [GRCh38]
Chr6:43019337 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2837_2840dup (p.Arg948fs) duplication 3-M syndrome [RCV005239962] Chr6:43045608..43045609 [GRCh38]
Chr6:43013346..43013347 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.4235_4236delinsAG (p.Thr1412Lys) indel not provided [RCV005138091] Chr6:43040214..43040215 [GRCh38]
Chr6:43007952..43007953 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4242_4249del (p.Ser1416fs) deletion not provided [RCV005138090] Chr6:43040201..43040208 [GRCh38]
Chr6:43007939..43007946 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.296T>C (p.Val99Ala) single nucleotide variant not specified [RCV005240151] Chr6:43052493 [GRCh38]
Chr6:43020231 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.87C>T (p.Arg29=) single nucleotide variant not provided [RCV005177370] Chr6:43052702 [GRCh38]
Chr6:43020440 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4915G>A (p.Asp1639Asn) single nucleotide variant not provided [RCV005245369] Chr6:43037870 [GRCh38]
Chr6:43005608 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3274C>T (p.Arg1092Trp) single nucleotide variant not provided [RCV005074632] Chr6:43043529 [GRCh38]
Chr6:43011267 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.255T>C (p.Asp85=) single nucleotide variant not provided [RCV005075962] Chr6:43052534 [GRCh38]
Chr6:43020272 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3534T>C (p.Ile1178=) single nucleotide variant not provided [RCV005164264] Chr6:43042913 [GRCh38]
Chr6:43010651 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3039-3C>G single nucleotide variant not specified [RCV005241199] Chr6:43044888 [GRCh38]
Chr6:43012626 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2862+10G>C single nucleotide variant not provided [RCV005082441] Chr6:43045577 [GRCh38]
Chr6:43013315 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.580+12T>C single nucleotide variant not provided [RCV005071592] Chr6:43052197 [GRCh38]
Chr6:43019935 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4422G>A (p.Leu1474=) single nucleotide variant not provided [RCV005142328] Chr6:43038860 [GRCh38]
Chr6:43006598 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4453del (p.Glu1485fs) deletion not provided [RCV005160199] Chr6:43038680 [GRCh38]
Chr6:43006418 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.2862+15G>A single nucleotide variant not provided [RCV005083145] Chr6:43045572 [GRCh38]
Chr6:43013310 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1372+14G>T single nucleotide variant not provided [RCV005167527] Chr6:43050246 [GRCh38]
Chr6:43017984 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4613G>A (p.Trp1538Ter) single nucleotide variant not provided [RCV005135312] Chr6:43038427 [GRCh38]
Chr6:43006165 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.4347G>T (p.Thr1449=) single nucleotide variant not provided [RCV005191945] Chr6:43038935 [GRCh38]
Chr6:43006673 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2027C>T (p.Pro676Leu) single nucleotide variant not provided [RCV005078420] Chr6:43048368 [GRCh38]
Chr6:43016106 [GRCh37]
Chr6:6p21.1		 benign
NM_014780.5(CUL7):c.4295-14C>T single nucleotide variant not provided [RCV005069070] Chr6:43039001 [GRCh38]
Chr6:43006739 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2398-17_2398-16del deletion not provided [RCV005079041] Chr6:43046617..43046618 [GRCh38]
Chr6:43014355..43014356 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.914C>T (p.Ser305Leu) single nucleotide variant not provided [RCV005080884] Chr6:43051287 [GRCh38]
Chr6:43019025 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.865A>G (p.Arg289Gly) single nucleotide variant not provided [RCV005141692] Chr6:43051336 [GRCh38]
Chr6:43019074 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2014A>T (p.Ser672Cys) single nucleotide variant not provided [RCV005141698] Chr6:43048381 [GRCh38]
Chr6:43016119 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4295-9del deletion not provided [RCV005083329] Chr6:43038996 [GRCh38]
Chr6:43006734 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3612C>G (p.Ala1204=) single nucleotide variant not provided [RCV005119766] Chr6:43042835 [GRCh38]
Chr6:43010573 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.606A>G (p.Ser202=) single nucleotide variant not provided [RCV005079490] Chr6:43051738 [GRCh38]
Chr6:43019476 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3192C>A (p.Pro1064=) single nucleotide variant not provided [RCV005187530] Chr6:43043611 [GRCh38]
Chr6:43011349 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3759G>A (p.Leu1253=) single nucleotide variant not provided [RCV005158840] Chr6:43040962 [GRCh38]
Chr6:43008700 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1666C>T (p.Leu556Phe) single nucleotide variant not provided [RCV005141699] Chr6:43049566 [GRCh38]
Chr6:43017304 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4848C>T (p.Cys1616=) single nucleotide variant not provided [RCV005191670] Chr6:43037937 [GRCh38]
Chr6:43005675 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3663C>T (p.Ala1221=) single nucleotide variant not provided [RCV005178620] Chr6:43041058 [GRCh38]
Chr6:43008796 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2862+9A>G single nucleotide variant not provided [RCV005160446] Chr6:43045578 [GRCh38]
Chr6:43013316 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3890C>T (p.Pro1297Leu) single nucleotide variant not provided [RCV005070487] Chr6:43040663 [GRCh38]
Chr6:43008401 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.885G>A (p.Glu295=) single nucleotide variant not provided [RCV005130549] Chr6:43051316 [GRCh38]
Chr6:43019054 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.3173-12C>A single nucleotide variant not provided [RCV005203564] Chr6:43043642 [GRCh38]
Chr6:43011380 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.1282C>G (p.Leu428Val) single nucleotide variant not provided [RCV005200165] Chr6:43050350 [GRCh38]
Chr6:43018088 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1233+16T>C single nucleotide variant not provided [RCV005125317] Chr6:43050952 [GRCh38]
Chr6:43018690 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.678A>G (p.Ala226=) single nucleotide variant not provided [RCV005108176] Chr6:43051666 [GRCh38]
Chr6:43019404 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.4567+8_4567+11del deletion not provided [RCV005203810] Chr6:43038555..43038558 [GRCh38]
Chr6:43006293..43006296 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.373C>T (p.Leu125=) single nucleotide variant not provided [RCV005198953] Chr6:43052416 [GRCh38]
Chr6:43020154 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.561C>G (p.Ala187=) single nucleotide variant not provided [RCV005110624] Chr6:43052228 [GRCh38]
Chr6:43019966 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.2660+11C>G single nucleotide variant not provided [RCV005070165] Chr6:43046225 [GRCh38]
Chr6:43013963 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.443C>G (p.Ala148Gly) single nucleotide variant not provided [RCV005199362]|not specified [RCV005407414] Chr6:43052346 [GRCh38]
Chr6:43020084 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.308A>G (p.Asp103Gly) single nucleotide variant Inborn genetic diseases [RCV005320330] Chr6:43052481 [GRCh38]
Chr6:43020219 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.736C>T (p.Pro246Ser) single nucleotide variant Inborn genetic diseases [RCV005320343] Chr6:43051465 [GRCh38]
Chr6:43019203 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4558A>G (p.Ile1520Val) single nucleotide variant Inborn genetic diseases [RCV005320335] Chr6:43038575 [GRCh38]
Chr6:43006313 [GRCh37]
Chr6:6p21.1		 likely benign
NM_014780.5(CUL7):c.723G>C (p.Gln241His) single nucleotide variant Inborn genetic diseases [RCV005320332] Chr6:43051621 [GRCh38]
Chr6:43019359 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2968A>G (p.Met990Val) single nucleotide variant Inborn genetic diseases [RCV005320336] Chr6:43045297 [GRCh38]
Chr6:43013035 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1164T>G (p.Asp388Glu) single nucleotide variant Inborn genetic diseases [RCV005320342] Chr6:43051037 [GRCh38]
Chr6:43018775 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.558A>C (p.Gln186His) single nucleotide variant Inborn genetic diseases [RCV005320331] Chr6:43052231 [GRCh38]
Chr6:43019969 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4559T>C (p.Ile1520Thr) single nucleotide variant Inborn genetic diseases [RCV005320334] Chr6:43038574 [GRCh38]
Chr6:43006312 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.2983G>A (p.Ala995Thr) single nucleotide variant Inborn genetic diseases [RCV005320338] Chr6:43045282 [GRCh38]
Chr6:43013020 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4669G>A (p.Gly1557Ser) single nucleotide variant Inborn genetic diseases [RCV005320339] Chr6:43038371 [GRCh38]
Chr6:43006109 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.4915G>C (p.Asp1639His) single nucleotide variant Inborn genetic diseases [RCV005320340] Chr6:43037870 [GRCh38]
Chr6:43005608 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.1540C>T (p.Gln514Ter) single nucleotide variant 3M syndrome 1 [RCV005360097] Chr6:43049992 [GRCh38]
Chr6:43017730 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.1658A>C (p.Asp553Ala) single nucleotide variant Inborn genetic diseases [RCV005320329] Chr6:43049574 [GRCh38]
Chr6:43017312 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.968C>T (p.Ser323Leu) single nucleotide variant Inborn genetic diseases [RCV005320341] Chr6:43051233 [GRCh38]
Chr6:43018971 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.727_732+18del deletion 3M syndrome 1 [RCV005253449] Chr6:43051594..43051617 [GRCh38]
Chr6:43019332..43019355 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.4186C>T (p.Arg1396Ter) single nucleotide variant 3M syndrome 1 [RCV005417592] Chr6:43040264 [GRCh38]
Chr6:43008002 [GRCh37]
Chr6:6p21.1		 pathogenic
NM_014780.5(CUL7):c.694G>C (p.Glu232Gln) single nucleotide variant 3M syndrome 1 [RCV005039777] Chr6:43051650 [GRCh38]
Chr6:43019388 [GRCh37]
Chr6:6p21.1		 uncertain significance
NM_014780.5(CUL7):c.3646-1G>T single nucleotide variant 3M syndrome 1 [RCV005039775] Chr6:43041076 [GRCh38]
Chr6:43008814 [GRCh37]
Chr6:6p21.1		 likely pathogenic
NM_014780.5(CUL7):c.1454_1455del (p.Glu485fs) deletion 3M syndrome 1 [RCV005039776] Chr6:43050077..43050078 [GRCh38]
Chr6:43017815..43017816 [GRCh37]
Chr6:6p21.1		 likely pathogenic
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:917
Count of miRNA genes:489
Interacting mature miRNAs:549
Transcripts:ENST00000265348, ENST00000478630, ENST00000535468
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
616504111GWAS1900694_Hlevel of inactive tyrosine-protein kinase 7 in blood serum QTL GWAS1900694 (human)1e-18level of inactive tyrosine-protein kinase 7 in blood serum64303874743038748Human
625824797GWAS2245719_Hsize QTL GWAS2245719 (human)5e-12size64304399543043996Human
616990710GWAS2008209_Hsize QTL GWAS2008209 (human)5e-12size64304399543043996Human
597454877GWAS1550951_Hsize QTL GWAS1550951 (human)5e-12size64304399543043996Human
1358839MULTSCL5_HMultiple sclerosis susceptibility QTL 5 (human)Multiple sclerosis susceptibility61958431145584311Human
628552243GWAS2460472_Hlevel of inactive tyrosine-protein kinase 7 in blood QTL GWAS2460472 (human)1e-18level of inactive tyrosine-protein kinase 7 in blood64303874743038748Human
617205534GWAS2185974_Hlevel of inactive tyrosine-protein kinase 7 in blood QTL GWAS2185974 (human)1e-18level of inactive tyrosine-protein kinase 7 in blood64303874743038748Human
628750158GWAS2658387_Hsize QTL GWAS2658387 (human)5e-12size64304399543043996Human
596953247GWAS1072766_Hsize QTL GWAS1072766 (human)5e-12size64304399543043996Human
628751250GWAS2659479_Hhealth trait QTL GWAS2659479 (human)1e-10health trait64304399543043996Human
625824502GWAS2245424_Hhealth trait QTL GWAS2245424 (human)1e-10health trait64304399543043996Human
1358857MULTSCL19_HMultiple sclerosis susceptibility QTL 19 (human)Multiple sclerosis susceptibility61958431145584311Human

Markers in Region
RH46646  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37643,008,775 - 43,008,893UniSTSGRCh37
Build 36643,116,753 - 43,116,871RGDNCBI36
Celera644,561,018 - 44,561,136RGD
Cytogenetic Map6p21.1UniSTS
HuRef642,725,878 - 42,725,996UniSTS
GeneMap99-GB4 RH Map6164.26UniSTS
RH25305  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37643,005,490 - 43,005,708UniSTSGRCh37
Build 36643,113,468 - 43,113,686RGDNCBI36
Celera644,557,733 - 44,557,951RGD
Cytogenetic Map6p21.1UniSTS
HuRef642,722,593 - 42,722,811UniSTS
GeneMap99-GB4 RH Map6164.62UniSTS
WI-19676  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37643,005,388 - 43,005,663UniSTSGRCh37
Build 36643,113,366 - 43,113,641RGDNCBI36
Celera644,557,631 - 44,557,906RGD
Cytogenetic Map6p21.1UniSTS
HuRef642,722,491 - 42,722,766UniSTS
GeneMap99-GB4 RH Map6150.02UniSTS
Whitehead-RH Map6251.6UniSTS
NCBI RH Map6669.1UniSTS
CUL7_8997  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37643,005,156 - 43,005,704UniSTSGRCh37
Build 36643,113,134 - 43,113,682RGDNCBI36
Celera644,557,399 - 44,557,947RGD
HuRef642,722,259 - 42,722,807UniSTS
MRPL2_2872  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37643,021,770 - 43,022,259UniSTSGRCh37
Build 36643,129,748 - 43,130,237RGDNCBI36
Celera644,574,013 - 44,574,502RGD
HuRef642,738,763 - 42,739,251UniSTS
WI-16092  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p21.1UniSTS
HuRef642,725,944 - 42,726,085UniSTS
GeneMap99-GB4 RH Map6164.26UniSTS
Whitehead-RH Map6258.1UniSTS
MARC_14751-14752:1010684373:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37643,013,339 - 43,014,121UniSTSGRCh37
Celera644,565,582 - 44,566,364UniSTS
HuRef642,730,332 - 42,731,114UniSTS
MARC_16785-16786:1033500245:3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37643,019,430 - 43,020,037UniSTSGRCh37
Celera644,571,673 - 44,572,280UniSTS
HuRef642,736,423 - 42,737,030UniSTS


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 2437 2788 2250 4963 1724 2350 5 624 1951 465 2269 7300 6467 53 3725 1 851 1742 1616 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK292806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG424177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D38548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA496861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000265348   ⟹   ENSP00000265348
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,037,617 - 43,053,851 (-)Ensembl
Ensembl Acc Id: ENST00000478630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,037,644 - 43,048,160 (-)Ensembl
Ensembl Acc Id: ENST00000535468   ⟹   ENSP00000438788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,037,620 - 43,053,945 (-)Ensembl
Ensembl Acc Id: ENST00000673725   ⟹   ENSP00000500980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,037,859 - 43,048,343 (-)Ensembl
Ensembl Acc Id: ENST00000673753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,037,906 - 43,053,851 (-)Ensembl
Ensembl Acc Id: ENST00000674100   ⟹   ENSP00000501292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,037,662 - 43,053,943 (-)Ensembl
Ensembl Acc Id: ENST00000674112   ⟹   ENSP00000501166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,037,642 - 43,053,896 (-)Ensembl
Ensembl Acc Id: ENST00000674134   ⟹   ENSP00000501068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,037,642 - 43,053,890 (-)Ensembl
Ensembl Acc Id: ENST00000683160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,049,231 - 43,053,899 (-)Ensembl
Ensembl Acc Id: ENST00000683242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,037,643 - 43,039,679 (-)Ensembl
Ensembl Acc Id: ENST00000683320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,040,130 - 43,040,913 (-)Ensembl
Ensembl Acc Id: ENST00000683493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,049,121 - 43,053,654 (-)Ensembl
Ensembl Acc Id: ENST00000685042   ⟹   ENSP00000509871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,037,631 - 43,053,896 (-)Ensembl
Ensembl Acc Id: ENST00000686442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,037,716 - 43,053,896 (-)Ensembl
Ensembl Acc Id: ENST00000687225   ⟹   ENSP00000509364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,037,906 - 43,053,851 (-)Ensembl
Ensembl Acc Id: ENST00000688302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,037,825 - 43,053,896 (-)Ensembl
Ensembl Acc Id: ENST00000688707   ⟹   ENSP00000510608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,049,099 - 43,052,796 (-)Ensembl
Ensembl Acc Id: ENST00000689256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,037,631 - 43,053,816 (-)Ensembl
Ensembl Acc Id: ENST00000690231   ⟹   ENSP00000508461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,037,631 - 43,053,902 (-)Ensembl
Ensembl Acc Id: ENST00000692002   ⟹   ENSP00000508567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,037,618 - 43,040,565 (-)Ensembl
Ensembl Acc Id: ENST00000857866   ⟹   ENSP00000527925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,037,617 - 43,053,881 (-)Ensembl
Ensembl Acc Id: ENST00000857867   ⟹   ENSP00000527926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,037,618 - 43,053,861 (-)Ensembl
Ensembl Acc Id: ENST00000930001   ⟹   ENSP00000600060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,037,619 - 43,053,862 (-)Ensembl
Ensembl Acc Id: ENST00000930002   ⟹   ENSP00000600061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,037,622 - 43,053,632 (-)Ensembl
Ensembl Acc Id: ENST00000952316   ⟹   ENSP00000622375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,037,618 - 43,053,940 (-)Ensembl
Ensembl Acc Id: ENST00000952317   ⟹   ENSP00000622376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,037,618 - 43,053,899 (-)Ensembl
Ensembl Acc Id: ENST00000952318   ⟹   ENSP00000622377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,037,620 - 43,053,881 (-)Ensembl
Ensembl Acc Id: ENST00000952319   ⟹   ENSP00000622378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl643,037,618 - 43,053,673 (-)Ensembl
RefSeq Acc Id: NM_001168370   ⟹   NP_001161842
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,037,617 - 43,053,851 (-)NCBI
GRCh37643,005,355 - 43,021,683 (-)NCBI
HuRef642,722,458 - 42,738,676 (-)ENTREZGENE
CHM1_1643,007,804 - 43,024,128 (-)NCBI
T2T-CHM13v2.0642,866,701 - 42,882,922 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374872   ⟹   NP_001361801
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,037,617 - 43,053,851 (-)NCBI
T2T-CHM13v2.0642,866,701 - 42,882,922 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374873   ⟹   NP_001361802
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,037,617 - 43,053,851 (-)NCBI
T2T-CHM13v2.0642,866,701 - 42,882,922 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374874   ⟹   NP_001361803
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,037,617 - 43,053,851 (-)NCBI
T2T-CHM13v2.0642,866,701 - 42,882,922 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014780   ⟹   NP_055595
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,037,617 - 43,053,851 (-)NCBI
GRCh37643,005,355 - 43,021,683 (-)ENTREZGENE
Build 36643,113,333 - 43,129,632 (-)NCBI Archive
HuRef642,722,458 - 42,738,676 (-)ENTREZGENE
CHM1_1643,007,804 - 43,024,128 (-)NCBI
T2T-CHM13v2.0642,866,701 - 42,882,922 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005249503   ⟹   XP_005249560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,037,617 - 43,053,851 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515019   ⟹   XP_011513321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,037,617 - 43,053,851 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515020   ⟹   XP_011513322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,037,617 - 43,053,851 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515021   ⟹   XP_011513323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,037,617 - 43,048,239 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011533   ⟹   XP_016867022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,037,617 - 43,053,851 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011534   ⟹   XP_016867023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,037,617 - 43,053,851 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011535   ⟹   XP_016867024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,037,617 - 43,053,851 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047419600   ⟹   XP_047275556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,037,617 - 43,053,851 (-)NCBI
RefSeq Acc Id: XM_047419601   ⟹   XP_047275557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,037,617 - 43,048,239 (-)NCBI
RefSeq Acc Id: XM_054356895   ⟹   XP_054212870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0642,866,701 - 42,882,922 (-)NCBI
RefSeq Acc Id: XM_054356896   ⟹   XP_054212871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0642,866,701 - 42,882,922 (-)NCBI
RefSeq Acc Id: XM_054356897   ⟹   XP_054212872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0642,866,701 - 42,882,922 (-)NCBI
RefSeq Acc Id: XM_054356898   ⟹   XP_054212873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0642,866,701 - 42,882,922 (-)NCBI
RefSeq Acc Id: XM_054356899   ⟹   XP_054212874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0642,866,701 - 42,882,922 (-)NCBI
RefSeq Acc Id: XM_054356900   ⟹   XP_054212875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0642,866,701 - 42,882,922 (-)NCBI
RefSeq Acc Id: XM_054356901   ⟹   XP_054212876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0642,866,701 - 42,882,922 (-)NCBI
RefSeq Acc Id: XM_054356902   ⟹   XP_054212877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0642,866,701 - 42,877,312 (-)NCBI
RefSeq Acc Id: XM_054356903   ⟹   XP_054212878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0642,866,701 - 42,877,312 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001161842 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361801 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361802 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361803 (Get FASTA)   NCBI Sequence Viewer  
  NP_055595 (Get FASTA)   NCBI Sequence Viewer  
  XP_005249560 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513321 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513322 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513323 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867022 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867023 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867024 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275556 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275557 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212870 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212871 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212872 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212873 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212874 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212875 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212876 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212877 (Get FASTA)   NCBI Sequence Viewer  
  XP_054212878 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH33647 (Get FASTA)   NCBI Sequence Viewer  
  BAA07551 (Get FASTA)   NCBI Sequence Viewer  
  BAF85495 (Get FASTA)   NCBI Sequence Viewer  
  BAG63902 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43460 (Get FASTA)   NCBI Sequence Viewer  
  EAX04144 (Get FASTA)   NCBI Sequence Viewer  
  EAX04145 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000265348
  ENSP00000265348.4
  ENSP00000501068
  ENSP00000501292
  ENSP00000508461
  ENSP00000508461.1
  ENSP00000600060
  ENSP00000622377
GenBank Protein Q14999 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001161842   ⟸   NM_001168370
- Peptide Label: isoform 1
- UniProtKB: A0A669KBH4 (UniProtKB/TrEMBL),   A8K9U1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_055595   ⟸   NM_014780
- Peptide Label: isoform 2
- UniProtKB: F5H0L1 (UniProtKB/Swiss-Prot),   B4DYZ0 (UniProtKB/Swiss-Prot),   Q5T654 (UniProtKB/Swiss-Prot),   Q14999 (UniProtKB/Swiss-Prot),   A8K9U1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005249560   ⟸   XM_005249503
- Peptide Label: isoform X7
- UniProtKB: Q14999 (UniProtKB/Swiss-Prot),   F5H0L1 (UniProtKB/Swiss-Prot),   B4DYZ0 (UniProtKB/Swiss-Prot),   Q5T654 (UniProtKB/Swiss-Prot),   A8K9U1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513322   ⟸   XM_011515020
- Peptide Label: isoform X6
- UniProtKB: A8K9U1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513321   ⟸   XM_011515019
- Peptide Label: isoform X3
- UniProtKB: A8K9U1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513323   ⟸   XM_011515021
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016867022   ⟸   XM_017011533
- Peptide Label: isoform X1
- UniProtKB: A8K9U1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016867024   ⟸   XM_017011535
- Peptide Label: isoform X4
- UniProtKB: A8K9U1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016867023   ⟸   XM_017011534
- Peptide Label: isoform X2
- UniProtKB: A8K9U1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001361803   ⟸   NM_001374874
- Peptide Label: isoform 4
- UniProtKB: A8K9U1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001361802   ⟸   NM_001374873
- Peptide Label: isoform 3
- UniProtKB: A8K9U1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001361801   ⟸   NM_001374872
- Peptide Label: isoform 1
- UniProtKB: A0A669KBH4 (UniProtKB/TrEMBL),   A8K9U1 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000500980   ⟸   ENST00000673725
Ensembl Acc Id: ENSP00000501292   ⟸   ENST00000674100
Ensembl Acc Id: ENSP00000501166   ⟸   ENST00000674112
Ensembl Acc Id: ENSP00000501068   ⟸   ENST00000674134
Ensembl Acc Id: ENSP00000438788   ⟸   ENST00000535468
Ensembl Acc Id: ENSP00000265348   ⟸   ENST00000265348
Ensembl Acc Id: ENSP00000509871   ⟸   ENST00000685042
Ensembl Acc Id: ENSP00000508461   ⟸   ENST00000690231
Ensembl Acc Id: ENSP00000508567   ⟸   ENST00000692002
Ensembl Acc Id: ENSP00000509364   ⟸   ENST00000687225
Ensembl Acc Id: ENSP00000510608   ⟸   ENST00000688707
RefSeq Acc Id: XP_047275556   ⟸   XM_047419600
- Peptide Label: isoform X5
- UniProtKB: A8K9U1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275557   ⟸   XM_047419601
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054212876   ⟸   XM_054356901
- Peptide Label: isoform X7
- UniProtKB: A8K9U1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054212875   ⟸   XM_054356900
- Peptide Label: isoform X6
- UniProtKB: A8K9U1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054212874   ⟸   XM_054356899
- Peptide Label: isoform X5
- UniProtKB: A8K9U1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054212873   ⟸   XM_054356898
- Peptide Label: isoform X4
- UniProtKB: A8K9U1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054212872   ⟸   XM_054356897
- Peptide Label: isoform X3
- UniProtKB: A8K9U1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054212871   ⟸   XM_054356896
- Peptide Label: isoform X2
- UniProtKB: A8K9U1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054212870   ⟸   XM_054356895
- Peptide Label: isoform X1
- UniProtKB: A8K9U1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054212878   ⟸   XM_054356903
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054212877   ⟸   XM_054356902
- Peptide Label: isoform X8
Ensembl Acc Id: ENSP00000622376   ⟸   ENST00000952317
Ensembl Acc Id: ENSP00000600060   ⟸   ENST00000930001
Ensembl Acc Id: ENSP00000622378   ⟸   ENST00000952319
Ensembl Acc Id: ENSP00000622375   ⟸   ENST00000952316
Ensembl Acc Id: ENSP00000600061   ⟸   ENST00000930002
Ensembl Acc Id: ENSP00000527925   ⟸   ENST00000857866
Ensembl Acc Id: ENSP00000527926   ⟸   ENST00000857867
Ensembl Acc Id: ENSP00000622377   ⟸   ENST00000952318
Protein Domains
CPH   CUL7/CUL9 ARM-repeats   CUL7/CUL9 N-terminal beta-barrel   Cullin family profile   DOC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14999-F1-model_v2 AlphaFold Q14999 1-1698 view protein structure

Promoters
RGD ID:7208109
Promoter ID:EPDNEW_H9799
Type:initiation region
Name:CUL7_1
Description:cullin 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,053,741 - 43,053,801EPDNEW
RGD ID:6803913
Promoter ID:HG_KWN:53612
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:UC010JYG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36643,122,651 - 43,123,152 (-)MPROMDB
RGD ID:6803912
Promoter ID:HG_KWN:53613
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000040576
Position:
Human AssemblyChrPosition (strand)Source
Build 36643,123,701 - 43,124,201 (-)MPROMDB
RGD ID:6803911
Promoter ID:HG_KWN:53614
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:NM_001168370,   OTTHUMT00000040575,   UC010JYH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36643,129,311 - 43,129,811 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21024 AgrOrtholog
COSMIC CUL7 COSMIC
Ensembl Genes ENSG00000044090 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000265348 ENTREZGENE
  ENST00000265348.9 UniProtKB/Swiss-Prot
  ENST00000478630 ENTREZGENE
  ENST00000674100 ENTREZGENE
  ENST00000674134 ENTREZGENE
  ENST00000690231 ENTREZGENE
  ENST00000690231.1 UniProtKB/Swiss-Prot
  ENST00000930001 ENTREZGENE
  ENST00000952318 ENTREZGENE
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot
  2.30.30.30 UniProtKB/Swiss-Prot
  Cullin Repeats UniProtKB/Swiss-Prot
  Cullin, Chain C, Domain 2 UniProtKB/Swiss-Prot
  Galactose-binding domain-like UniProtKB/Swiss-Prot
GTEx ENSG00000044090 GTEx
HGNC ID HGNC:21024 ENTREZGENE
Human Proteome Map CUL7 Human Proteome Map
InterPro APC_su10/DOC_dom UniProtKB/Swiss-Prot
  ARM-type_fold UniProtKB/Swiss-Prot
  ARM_CUL7_CUL9 UniProtKB/Swiss-Prot
  CPH_domain UniProtKB/Swiss-Prot
  CUL7/CUL9_N UniProtKB/Swiss-Prot
  Cullin UniProtKB/Swiss-Prot
  Cullin_homology UniProtKB/Swiss-Prot
  Cullin_homology_sf UniProtKB/Swiss-Prot
  Cullin_N UniProtKB/Swiss-Prot
  Cullin_neddylation_domain UniProtKB/Swiss-Prot
  Galactose-bd-like_sf UniProtKB/Swiss-Prot
  Rib_L2_dom2 UniProtKB/Swiss-Prot
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot
KEGG Report hsa:9820 UniProtKB/Swiss-Prot
NCBI Gene 9820 ENTREZGENE
OMIM 609577 OMIM
PANTHER CULLIN AND GALACTOSE-BINDING DOMAIN-CONTAINING UniProtKB/Swiss-Prot
  PTHR22771:SF3 UniProtKB/Swiss-Prot
Pfam ANAPC10 UniProtKB/Swiss-Prot
  ARM_CUL7_CUL9 UniProtKB/Swiss-Prot
  Cul7 UniProtKB/Swiss-Prot
  Cullin UniProtKB/Swiss-Prot
  DUF7058 UniProtKB/Swiss-Prot
PharmGKB PA134897835 PharmGKB
PROSITE CULLIN_2 UniProtKB/Swiss-Prot
  DOC UniProtKB/Swiss-Prot
SMART APC10 UniProtKB/Swiss-Prot
  Cullin_Nedd8 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot
  SSF49785 UniProtKB/Swiss-Prot
  SSF75632 UniProtKB/Swiss-Prot
  Tudor/PWWP/MBT UniProtKB/Swiss-Prot
UniProt A0A669KAU7_HUMAN UniProtKB/TrEMBL
  A0A669KB95_HUMAN UniProtKB/TrEMBL
  A0A669KBH4 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KQF0_HUMAN UniProtKB/TrEMBL
  A0A8I5KS45_HUMAN UniProtKB/TrEMBL
  A0A8I5KUS3_HUMAN UniProtKB/TrEMBL
  A0A8I5KW87_HUMAN UniProtKB/TrEMBL
  A8K9U1 ENTREZGENE, UniProtKB/TrEMBL
  B4DYZ0 ENTREZGENE
  CUL7_HUMAN UniProtKB/Swiss-Prot
  F5H0L1 ENTREZGENE
  L8E835_HUMAN UniProtKB/TrEMBL
  Q14999 ENTREZGENE
  Q5T654 ENTREZGENE
UniProt Secondary B4DYZ0 UniProtKB/Swiss-Prot
  F5H0L1 UniProtKB/Swiss-Prot
  Q5T654 UniProtKB/Swiss-Prot